Incidental Mutation 'R1783:Git2'
ID 195713
Institutional Source Beutler Lab
Gene Symbol Git2
Ensembl Gene ENSMUSG00000041890
Gene Name GIT ArfGAP 2
Synonyms 1500036H07Rik, B230104M05Rik, 9630056M03Rik, 5830420E16Rik, Cool associated tyrosine phosphorylated-2, ARF GTPase activating protein 2, Cat-2
MMRRC Submission 039814-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.377) question?
Stock # R1783 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 114865469-114912647 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114877185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 99 (E99G)
Ref Sequence ENSEMBL: ENSMUSP00000115988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043283] [ENSMUST00000086564] [ENSMUST00000112183] [ENSMUST00000112185] [ENSMUST00000146044] [ENSMUST00000178440] [ENSMUST00000155908]
AlphaFold Q9JLQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000043283
AA Change: E467G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039718
Gene: ENSMUSG00000041890
AA Change: E467G

DomainStartEndE-ValueType
ArfGap 1 124 1.42e-56 SMART
ANK 132 161 2.55e2 SMART
ANK 166 195 1.21e1 SMART
ANK 199 228 3.95e1 SMART
GIT 266 296 4.96e-10 SMART
GIT 330 360 1.27e-7 SMART
Pfam:GIT1_C 550 674 2.4e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000086564
AA Change: E517G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083754
Gene: ENSMUSG00000041890
AA Change: E517G

DomainStartEndE-ValueType
ArfGap 1 124 1.42e-56 SMART
ANK 132 161 2.55e2 SMART
ANK 166 195 1.21e1 SMART
ANK 199 228 3.95e1 SMART
GIT 266 296 4.96e-10 SMART
GIT 330 360 1.27e-7 SMART
Pfam:GIT_CC 414 478 3.7e-31 PFAM
low complexity region 555 570 N/A INTRINSIC
Pfam:GIT1_C 636 752 6.4e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112183
AA Change: E469G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107801
Gene: ENSMUSG00000041890
AA Change: E469G

DomainStartEndE-ValueType
ArfGap 1 124 1.42e-56 SMART
ANK 132 161 2.55e2 SMART
ANK 166 195 1.21e1 SMART
ANK 199 228 3.95e1 SMART
GIT 268 298 4.96e-10 SMART
GIT 332 362 1.27e-7 SMART
Pfam:GIT1_C 552 676 1e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112185
AA Change: E466G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107803
Gene: ENSMUSG00000041890
AA Change: E466G

DomainStartEndE-ValueType
ArfGap 1 124 1.42e-56 SMART
ANK 132 161 2.55e2 SMART
ANK 166 195 1.21e1 SMART
ANK 199 228 3.95e1 SMART
GIT 265 295 4.96e-10 SMART
GIT 329 359 1.27e-7 SMART
low complexity region 504 519 N/A INTRINSIC
Pfam:GIT1_C 579 703 3e-64 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000130925
AA Change: E164G
SMART Domains Protein: ENSMUSP00000115185
Gene: ENSMUSG00000041890
AA Change: E164G

DomainStartEndE-ValueType
Pfam:GIT_SHD 1 21 9.7e-5 PFAM
Pfam:GIT_CC 77 115 7.7e-14 PFAM
low complexity region 203 218 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135793
Predicted Effect probably damaging
Transcript: ENSMUST00000146044
AA Change: E99G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115988
Gene: ENSMUSG00000041890
AA Change: E99G

DomainStartEndE-ValueType
PDB:2W6A|B 3 59 5e-16 PDB
Pfam:GIT1_C 182 306 2.4e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178440
AA Change: E468G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136796
Gene: ENSMUSG00000041890
AA Change: E468G

DomainStartEndE-ValueType
ArfGap 1 124 1.42e-56 SMART
ANK 132 161 2.55e2 SMART
ANK 166 195 1.21e1 SMART
ANK 199 228 3.95e1 SMART
GIT 267 297 4.96e-10 SMART
GIT 331 361 1.27e-7 SMART
Pfam:GIT1_C 551 675 2.4e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201442
Predicted Effect probably benign
Transcript: ENSMUST00000155908
SMART Domains Protein: ENSMUSP00000122302
Gene: ENSMUSG00000041890

DomainStartEndE-ValueType
ArfGap 1 96 2.04e-25 SMART
ANK 104 133 2.55e2 SMART
ANK 138 167 1.21e1 SMART
ANK 171 200 3.95e1 SMART
GIT 238 268 4.96e-10 SMART
GIT 302 332 1.27e-7 SMART
Pfam:GIT1_C 474 598 8.3e-65 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a null allele show frequent splenomegaly, extramedullary hematopoiesis, impaired neutrophil chemotaxis, misoriented hyperproduction of superoxide anions and increased susceptibility to fungal infection. Homozygotes for a gene trap allele have reduced marginal zone B cell numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 226 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,088,286 (GRCm39) T307S probably damaging Het
4930590J08Rik T C 6: 91,896,259 (GRCm39) I369T possibly damaging Het
Abhd17a T A 10: 80,419,860 (GRCm39) I115F probably benign Het
Acacb TGGGG TGGG 5: 114,347,828 (GRCm39) probably null Het
Adgrb2 C T 4: 129,903,098 (GRCm39) T566I possibly damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Aspm A G 1: 139,401,312 (GRCm39) I1111V probably benign Het
Bbs9 T C 9: 22,570,415 (GRCm39) V587A possibly damaging Het
C4bp C G 1: 130,570,725 (GRCm39) V284L probably benign Het
Cacna1s T C 1: 136,046,454 (GRCm39) F1761S probably benign Het
Camsap2 C T 1: 136,209,053 (GRCm39) R802Q probably benign Het
Capn8 T C 1: 182,426,387 (GRCm39) S241P probably damaging Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Cars1 C A 7: 143,146,211 (GRCm39) R71M probably damaging Het
Ccdc93 C T 1: 121,383,855 (GRCm39) P192L probably benign Het
Ccdc93 T C 1: 121,389,668 (GRCm39) V237A probably benign Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cd55 C A 1: 130,387,370 (GRCm39) A143S probably benign Het
Cdh19 C A 1: 110,821,114 (GRCm39) E541D probably damaging Het
Cdh20 C G 1: 109,993,465 (GRCm39) L307V possibly damaging Het
Cep350 A C 1: 155,804,611 (GRCm39) L824R probably damaging Het
Cfh C T 1: 140,075,435 (GRCm39) V268I possibly damaging Het
Cfhr2 A G 1: 139,741,180 (GRCm39) M265T probably benign Het
Cfhr2 A C 1: 139,741,197 (GRCm39) N259K probably benign Het
Chi3l1 C T 1: 134,116,267 (GRCm39) A250V probably damaging Het
Chit1 A G 1: 134,077,132 (GRCm39) R312G possibly damaging Het
Chit1 G T 1: 134,077,133 (GRCm39) R312I probably benign Het
Cntnap5a C T 1: 116,382,873 (GRCm39) T1047I probably benign Het
Cntnap5a T C 1: 116,382,831 (GRCm39) L1033S probably benign Het
Cntnap5a C A 1: 116,382,734 (GRCm39) L1001I probably benign Het
Crb1 T C 1: 139,162,517 (GRCm39) M1214V probably benign Het
Crb1 C T 1: 139,171,155 (GRCm39) R684H probably benign Het
Crb1 C T 1: 139,170,733 (GRCm39) G825R probably damaging Het
Crb1 G A 1: 139,168,876 (GRCm39) P881S probably damaging Het
Crb1 A T 1: 139,165,360 (GRCm39) H921Q probably benign Het
Cxcr4 C T 1: 128,517,014 (GRCm39) V216I probably benign Het
Cyb5r1 C T 1: 134,335,405 (GRCm39) R147W probably damaging Het
Ddx59 T C 1: 136,344,791 (GRCm39) V154A probably benign Het
Dock10 T G 1: 80,551,897 (GRCm39) Y659S probably benign Het
Dsel G C 1: 111,787,724 (GRCm39) T937S probably benign Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Dsg2 G A 18: 20,724,937 (GRCm39) V448I probably benign Het
Dstyk C T 1: 132,384,722 (GRCm39) L739F probably damaging Het
Efnb2 G T 8: 8,673,237 (GRCm39) T140K probably damaging Het
En1 A G 1: 120,531,350 (GRCm39) S197G unknown Het
Eogt T C 6: 97,090,825 (GRCm39) D438G probably damaging Het
Etnk2 A G 1: 133,291,661 (GRCm39) S54G probably benign Het
Etnk2 G T 1: 133,304,784 (GRCm39) A336S probably benign Het
Etnk2 T A 1: 133,304,653 (GRCm39) V292E probably benign Het
Etnk2 G A 1: 133,293,555 (GRCm39) R166Q probably benign Het
Etnk2 C T 1: 133,293,554 (GRCm39) R166* probably null Het
Etnk2 C A 1: 133,293,325 (GRCm39) D89E probably benign Het
Etnk2 G T 1: 133,293,503 (GRCm39) G149W probably damaging Het
Etnppl A G 3: 130,414,398 (GRCm39) T98A probably damaging Het
Fam131b T G 6: 42,295,514 (GRCm39) Q221P possibly damaging Het
Fam72a T C 1: 131,458,406 (GRCm39) I56T probably benign Het
Fam72a C T 1: 131,466,633 (GRCm39) T139M probably benign Het
Fam90a1a A G 8: 22,453,479 (GRCm39) N278S probably benign Het
Fbxo40 T A 16: 36,786,584 (GRCm39) M662L probably damaging Het
Fcamr G A 1: 130,740,366 (GRCm39) G262S probably benign Het
Fcamr A G 1: 130,740,429 (GRCm39) I283V probably benign Het
Fcamr T C 1: 130,740,475 (GRCm39) V298A probably benign Het
Fcamr A G 1: 130,740,546 (GRCm39) M322V probably benign Het
Fcamr C T 1: 130,740,553 (GRCm39) P324L probably benign Het
Fcamr A G 1: 130,742,334 (GRCm39) N574D probably benign Het
Fcamr A C 1: 130,732,364 (GRCm39) N117T probably benign Het
Fcamr A G 1: 130,739,317 (GRCm39) I206V probably benign Het
Fcmr A G 1: 130,803,711 (GRCm39) T172A probably benign Het
Fcmr T C 1: 130,806,006 (GRCm39) S321P probably benign Het
Fmo9 A T 1: 166,501,217 (GRCm39) F192L probably benign Het
Gabarap C T 11: 69,882,515 (GRCm39) probably benign Het
Gatad2a G T 8: 70,362,586 (GRCm39) H600N probably damaging Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Gli2 G T 1: 118,929,774 (GRCm39) H44Q probably benign Het
Gli2 C T 1: 118,795,817 (GRCm39) A113T possibly damaging Het
Glrx2 C T 1: 143,615,478 (GRCm39) A27V possibly damaging Het
Gm10961 T C 3: 107,540,310 (GRCm39) probably benign Het
Gpr25 G A 1: 136,188,448 (GRCm39) P55L probably benign Het
Gpsm3 G A 17: 34,809,728 (GRCm39) R52H possibly damaging Het
Grm7 G C 6: 111,335,256 (GRCm39) D556H probably damaging Het
Hdac5 A G 11: 102,091,342 (GRCm39) F683L probably benign Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Igfn1 G A 1: 135,887,666 (GRCm39) P2466L probably damaging Het
Igfn1 C T 1: 135,899,865 (GRCm39) R482Q probably benign Het
Igfn1 T C 1: 135,898,149 (GRCm39) S806G probably benign Het
Igfn1 G A 1: 135,895,937 (GRCm39) A1543V probably benign Het
Igfn1 C T 1: 135,907,653 (GRCm39) A231T probably benign Het
Igfn1 G A 1: 135,910,213 (GRCm39) R124W probably benign Het
Igfn1 T C 1: 135,926,363 (GRCm39) E29G probably benign Het
Igfn1 T C 1: 135,926,421 (GRCm39) I10V unknown Het
Ikbke C A 1: 131,193,674 (GRCm39) A459S probably benign Het
Ikbke T C 1: 131,197,560 (GRCm39) S447G probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Irx5 A C 8: 93,086,316 (GRCm39) E133A probably damaging Het
Itgb5 C T 16: 33,760,932 (GRCm39) T589I probably benign Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcna5 A T 6: 126,510,823 (GRCm39) I435N probably damaging Het
Kcnj5 T C 9: 32,233,488 (GRCm39) I276V probably damaging Het
Kcnt2 G A 1: 140,282,285 (GRCm39) S90N probably benign Het
Kif14 A G 1: 136,396,017 (GRCm39) N108D probably benign Het
Kif14 T C 1: 136,453,521 (GRCm39) V1433A probably benign Het
Kif14 T C 1: 136,443,699 (GRCm39) F1291L probably benign Het
Kif14 C T 1: 136,431,169 (GRCm39) L1189F probably benign Het
Kif14 A G 1: 136,418,070 (GRCm39) S868G probably benign Het
Kif14 G A 1: 136,406,103 (GRCm39) A556T probably benign Het
Kif14 A G 1: 136,396,713 (GRCm39) K340E probably damaging Het
Krt1c T C 15: 101,722,408 (GRCm39) R426G probably damaging Het
Lad1 C T 1: 135,755,761 (GRCm39) R346C probably damaging Het
Lad1 C T 1: 135,755,119 (GRCm39) P132S possibly damaging Het
Lax1 G A 1: 133,611,372 (GRCm39) P67S probably damaging Het
Lax1 T C 1: 133,607,716 (GRCm39) R342G probably benign Het
Lax1 T C 1: 133,608,307 (GRCm39) N145D probably benign Het
Lgr6 G T 1: 134,918,373 (GRCm39) H263N probably benign Het
Lgr6 C T 1: 134,931,214 (GRCm39) S3N probably benign Het
Lgr6 C T 1: 134,914,826 (GRCm39) V641I probably benign Het
Lgr6 A T 1: 134,915,747 (GRCm39) S334T probably benign Het
Lin7b A T 7: 45,019,351 (GRCm39) H72Q probably benign Het
Lmod1 C T 1: 135,291,811 (GRCm39) T222I probably benign Het
Map3k9 A T 12: 81,769,000 (GRCm39) V1016E probably damaging Het
Mcam T C 9: 44,046,003 (GRCm39) L6P probably damaging Het
Mgam A G 6: 40,641,794 (GRCm39) H549R possibly damaging Het
Miip G A 4: 147,950,231 (GRCm39) P122S probably damaging Het
Mkrn1 T A 6: 39,377,390 (GRCm39) N282Y probably null Het
Mrc1 T C 2: 14,332,655 (GRCm39) V1285A probably benign Het
Mroh3 G C 1: 136,119,882 (GRCm39) Q440E possibly damaging Het
Mybpc1 T C 10: 88,406,430 (GRCm39) D152G probably damaging Het
Mybph C T 1: 134,125,218 (GRCm39) R249C probably benign Het
Myh7b A G 2: 155,467,592 (GRCm39) D739G possibly damaging Het
Nav1 A T 1: 135,512,465 (GRCm39) D198E possibly damaging Het
Nfkbib A T 7: 28,461,480 (GRCm39) Y86N probably damaging Het
Nr5a2 C A 1: 136,879,863 (GRCm39) R35L probably benign Het
Nrip1 G T 16: 76,089,778 (GRCm39) T593K probably benign Het
Obscn A G 11: 58,964,459 (GRCm39) Y726H probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc C G 1: 133,832,908 (GRCm39) S64T probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or4f14b T C 2: 111,775,633 (GRCm39) H56R probably benign Het
Or8d2 T A 9: 38,760,268 (GRCm39) I286K probably damaging Het
Or8g32 T C 9: 39,305,518 (GRCm39) Y144H probably benign Het
Pard6g T A 18: 80,123,040 (GRCm39) F25I probably damaging Het
Parp6 C A 9: 59,540,821 (GRCm39) C291* probably null Het
Perm1 C T 4: 156,302,988 (GRCm39) R511* probably null Het
Pigr C T 1: 130,772,259 (GRCm39) A159V possibly damaging Het
Pik3c2b C T 1: 132,994,365 (GRCm39) P110S probably benign Het
Plekha6 C G 1: 133,215,584 (GRCm39) T792S probably benign Het
Pole T A 5: 110,445,296 (GRCm39) L481Q probably damaging Het
Polr2i T C 7: 29,932,493 (GRCm39) C67R probably damaging Het
Ppfia4 G A 1: 134,227,059 (GRCm39) P1159S probably benign Het
Pramel31 G T 4: 144,088,295 (GRCm39) E30D probably benign Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptgfrn T C 3: 100,963,758 (GRCm39) N618S possibly damaging Het
Ptpn7 A G 1: 135,062,213 (GRCm39) Q53R probably benign Het
Ptprc T G 1: 138,027,414 (GRCm39) N478T probably benign Het
Ptprc T C 1: 138,039,992 (GRCm39) K212E possibly damaging Het
Ptprc A G 1: 138,035,575 (GRCm39) V400A probably benign Het
Ptprc C A 1: 138,035,562 (GRCm39) E402D probably benign Het
Ptprc A G 1: 138,035,561 (GRCm39) S405P probably benign Het
Rab29 A G 1: 131,799,848 (GRCm39) Q141R probably benign Het
Ren1 T A 1: 133,281,944 (GRCm39) W22R probably damaging Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Ren1 C G 1: 133,287,745 (GRCm39) L360V probably benign Het
Ren1 A T 1: 133,287,721 (GRCm39) N352Y probably benign Het
Ren1 A T 1: 133,286,817 (GRCm39) E315D probably benign Het
Ren1 C T 1: 133,281,975 (GRCm39) T32I probably benign Het
Rims1 C T 1: 22,416,753 (GRCm39) probably null Het
Rnpep C T 1: 135,190,834 (GRCm39) A571T possibly damaging Het
Rnpep G C 1: 135,211,715 (GRCm39) A11G probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Ro60 C T 1: 143,635,752 (GRCm39) V465I probably benign Het
Rps19bp1 CCTTCTTCTTCTTCTTCTTCTT CCTTCTTCTTCTTCTTCTT 15: 80,145,250 (GRCm39) probably benign Het
Rsph4a T C 10: 33,787,632 (GRCm39) I596T probably damaging Het
Ryr2 A T 13: 11,715,257 (GRCm39) Y2770* probably null Het
Sctr T C 1: 119,959,386 (GRCm39) F110L probably benign Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Serpinb10 C T 1: 107,466,203 (GRCm39) S63F probably damaging Het
Serpinb2 G A 1: 107,443,365 (GRCm39) A55T probably damaging Het
Serpinb2 A C 1: 107,452,273 (GRCm39) S284R probably benign Het
Serpinb2 C T 1: 107,451,624 (GRCm39) T259I probably benign Het
Serpinb2 C T 1: 107,451,620 (GRCm39) H258Y probably benign Het
Serpinb2 C A 1: 107,451,564 (GRCm39) A239E probably benign Het
Serpinb8 A G 1: 107,525,257 (GRCm39) S20G probably benign Het
Serpinb8 A C 1: 107,534,734 (GRCm39) L268F probably benign Het
Serpinb8 G A 1: 107,526,684 (GRCm39) A75T probably benign Het
Sertad4 T C 1: 192,529,340 (GRCm39) T159A probably benign Het
Setd1a T A 7: 127,384,296 (GRCm39) Y382* probably null Het
Sfswap T A 5: 129,590,304 (GRCm39) V267E possibly damaging Het
Shank1 T A 7: 44,002,161 (GRCm39) D1293E possibly damaging Het
Slc26a9 C T 1: 131,691,608 (GRCm39) A617V probably benign Het
Slc26a9 C A 1: 131,693,750 (GRCm39) R747S probably benign Het
Slc36a1 A G 11: 55,114,498 (GRCm39) D192G probably damaging Het
Slc4a4 T A 5: 89,280,273 (GRCm39) L366Q probably damaging Het
Sorcs1 T C 19: 50,216,747 (GRCm39) probably null Het
Steap3 T C 1: 120,155,480 (GRCm39) N493S probably benign Het
Steap3 G A 1: 120,162,108 (GRCm39) A350V probably benign Het
Svep1 T A 4: 58,073,333 (GRCm39) Y1992F probably benign Het
Syce1l A G 8: 114,381,466 (GRCm39) R152G possibly damaging Het
Tbc1d17 A C 7: 44,494,555 (GRCm39) S227A probably damaging Het
Telo2 A T 17: 25,321,712 (GRCm39) probably null Het
Thsd7b G C 1: 129,605,920 (GRCm39) A554P probably benign Het
Thsd7b A C 1: 130,044,368 (GRCm39) Q1116P probably benign Het
Thsd7b C T 1: 129,556,628 (GRCm39) T328I probably damaging Het
Thsd7b T A 1: 129,595,674 (GRCm39) F498Y probably benign Het
Tmem143 G A 7: 45,556,426 (GRCm39) D144N possibly damaging Het
Tmprss11a T A 5: 86,567,891 (GRCm39) I279F probably damaging Het
Tnc A G 4: 63,936,333 (GRCm39) L201P probably damaging Het
Tnnt2 C T 1: 135,773,244 (GRCm39) probably benign Het
Ttn A G 2: 76,619,245 (GRCm39) probably null Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ube2t C T 1: 134,899,905 (GRCm39) A149V probably benign Het
Unc80 G A 1: 66,722,432 (GRCm39) M3015I probably benign Het
Usp9y A T Y: 1,367,093 (GRCm39) V998D probably benign Het
Utrn A G 10: 12,339,083 (GRCm39) F2858S probably damaging Het
Vmn1r224 T C 17: 20,639,447 (GRCm39) I8T probably benign Het
Vmn2r107 T C 17: 20,576,775 (GRCm39) S258P possibly damaging Het
Wars1 A C 12: 108,841,667 (GRCm39) F160C probably damaging Het
Xirp1 T G 9: 120,016,907 (GRCm38) Q970P probably benign Het
Zc3h11a G A 1: 133,549,892 (GRCm39) P695S probably benign Het
Zc3h11a C T 1: 133,552,359 (GRCm39) V583I probably benign Het
Zfp28 A T 7: 6,397,791 (GRCm39) Y742F probably damaging Het
Zfp541 A G 7: 15,811,898 (GRCm39) T184A probably damaging Het
Zfp623 T C 15: 75,819,760 (GRCm39) S239P probably damaging Het
Zfp804b T C 5: 6,821,938 (GRCm39) D375G probably damaging Het
Zp3r A G 1: 130,524,551 (GRCm39) L164P probably benign Het
Zp3r C A 1: 130,547,151 (GRCm39) E8D possibly damaging Het
Other mutations in Git2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01669:Git2 APN 5 114,905,166 (GRCm39) missense probably damaging 1.00
IGL02538:Git2 APN 5 114,869,047 (GRCm39) splice site probably benign
IGL03114:Git2 APN 5 114,871,918 (GRCm39) splice site probably benign
IGL03278:Git2 APN 5 114,883,641 (GRCm39) splice site probably null
IGL03278:Git2 APN 5 114,883,640 (GRCm39) splice site probably benign
bridge UTSW 5 114,887,621 (GRCm39) critical splice donor site probably null
hashi UTSW 5 114,907,676 (GRCm39) critical splice donor site probably null
ponto UTSW 5 114,877,162 (GRCm39) missense probably damaging 1.00
vecchio UTSW 5 114,907,759 (GRCm39) nonsense probably null
R0184:Git2 UTSW 5 114,877,098 (GRCm39) missense possibly damaging 0.47
R0241:Git2 UTSW 5 114,871,290 (GRCm39) missense probably damaging 1.00
R0241:Git2 UTSW 5 114,871,290 (GRCm39) missense probably damaging 1.00
R0540:Git2 UTSW 5 114,886,335 (GRCm39) missense probably damaging 1.00
R0543:Git2 UTSW 5 114,883,592 (GRCm39) missense probably damaging 0.97
R0612:Git2 UTSW 5 114,890,342 (GRCm39) missense probably damaging 1.00
R1144:Git2 UTSW 5 114,891,375 (GRCm39) missense probably benign 0.27
R1225:Git2 UTSW 5 114,871,239 (GRCm39) splice site probably benign
R1923:Git2 UTSW 5 114,877,162 (GRCm39) missense probably damaging 1.00
R1956:Git2 UTSW 5 114,887,398 (GRCm39) nonsense probably null
R1981:Git2 UTSW 5 114,887,620 (GRCm39) splice site probably benign
R2029:Git2 UTSW 5 114,904,511 (GRCm39) critical splice donor site probably null
R3150:Git2 UTSW 5 114,868,410 (GRCm39) missense probably damaging 1.00
R4087:Git2 UTSW 5 114,902,466 (GRCm39) missense probably damaging 0.99
R4367:Git2 UTSW 5 114,902,727 (GRCm39) missense probably damaging 1.00
R4400:Git2 UTSW 5 114,871,970 (GRCm39) missense possibly damaging 0.94
R4702:Git2 UTSW 5 114,883,543 (GRCm39) missense probably damaging 1.00
R4758:Git2 UTSW 5 114,868,412 (GRCm39) missense probably damaging 1.00
R4840:Git2 UTSW 5 114,883,543 (GRCm39) missense probably damaging 1.00
R5236:Git2 UTSW 5 114,905,233 (GRCm39) missense probably damaging 1.00
R5427:Git2 UTSW 5 114,868,389 (GRCm39) missense possibly damaging 0.82
R5510:Git2 UTSW 5 114,881,835 (GRCm39) critical splice donor site probably null
R6014:Git2 UTSW 5 114,871,938 (GRCm39) missense probably benign 0.32
R6162:Git2 UTSW 5 114,899,717 (GRCm39) missense probably damaging 0.99
R6195:Git2 UTSW 5 114,905,175 (GRCm39) missense probably benign 0.27
R6198:Git2 UTSW 5 114,883,556 (GRCm39) nonsense probably null
R6233:Git2 UTSW 5 114,905,175 (GRCm39) missense probably benign 0.27
R6277:Git2 UTSW 5 114,871,308 (GRCm39) missense probably damaging 1.00
R6603:Git2 UTSW 5 114,869,052 (GRCm39) critical splice donor site probably null
R7141:Git2 UTSW 5 114,907,759 (GRCm39) nonsense probably null
R7420:Git2 UTSW 5 114,868,431 (GRCm39) missense probably benign 0.00
R7468:Git2 UTSW 5 114,871,958 (GRCm39) missense probably damaging 1.00
R7574:Git2 UTSW 5 114,904,550 (GRCm39) missense probably damaging 1.00
R7575:Git2 UTSW 5 114,904,550 (GRCm39) missense probably damaging 1.00
R7577:Git2 UTSW 5 114,904,550 (GRCm39) missense probably damaging 1.00
R7651:Git2 UTSW 5 114,871,296 (GRCm39) missense probably damaging 1.00
R7658:Git2 UTSW 5 114,904,550 (GRCm39) missense probably damaging 1.00
R7893:Git2 UTSW 5 114,907,737 (GRCm39) missense possibly damaging 0.83
R8067:Git2 UTSW 5 114,904,579 (GRCm39) missense probably damaging 0.99
R8415:Git2 UTSW 5 114,871,989 (GRCm39) missense possibly damaging 0.80
R8878:Git2 UTSW 5 114,899,649 (GRCm39) missense possibly damaging 0.95
R8984:Git2 UTSW 5 114,868,256 (GRCm39) missense probably damaging 0.99
R9022:Git2 UTSW 5 114,907,676 (GRCm39) critical splice donor site probably null
R9084:Git2 UTSW 5 114,902,515 (GRCm39) missense probably damaging 0.99
R9117:Git2 UTSW 5 114,887,621 (GRCm39) critical splice donor site probably null
R9234:Git2 UTSW 5 114,899,682 (GRCm39) missense possibly damaging 0.91
R9488:Git2 UTSW 5 114,904,533 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCTCAGGAAGGAAGCTCTACACAAC -3'
(R):5'- TCCAGAGTGAGAACTCAAGCCTCAG -3'

Sequencing Primer
(F):5'- CTGCCTGGGAATGACATCATAG -3'
(R):5'- CTCAAGCCTCAGGAGACAGG -3'
Posted On 2014-05-23