Incidental Mutation 'R9084:Git2'
ID 690452
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 068903-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.377) question?
Stock # R9084 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 114865469-114912647 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 114902515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 172 (H172Q)
Ref Sequence ENSEMBL: ENSMUSP00000107803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043283] [ENSMUST00000086564] [ENSMUST00000112183] [ENSMUST00000112185] [ENSMUST00000131016] [ENSMUST00000131993] [ENSMUST00000155908] [ENSMUST00000178440]
AlphaFold Q9JLQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000043283
AA Change: H172Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000039718
Gene: ENSMUSG00000041890
AA Change: H172Q

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: H172Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000083754
Gene: ENSMUSG00000041890
AA Change: H172Q

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: H172Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107801
Gene: ENSMUSG00000041890
AA Change: H172Q

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: H172Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107803
Gene: ENSMUSG00000041890
AA Change: H172Q

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 probably damaging
Transcript: ENSMUST00000131016
AA Change: H167Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116722
Gene: ENSMUSG00000041890
AA Change: H167Q

DomainStartEndE-ValueType
ArfGap 9 119 4.52e-41 SMART
ANK 127 156 2.55e2 SMART
ANK 161 190 1.21e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131993
AA Change: H61Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118812
Gene: ENSMUSG00000041890
AA Change: H61Q

DomainStartEndE-ValueType
ANK 21 50 2.55e2 SMART
ANK 55 84 1.21e1 SMART
ANK 88 117 3.95e1 SMART
Pfam:GIT_SHD 156 186 7.9e-19 PFAM
Pfam:GIT_SHD 220 249 3.5e-17 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000122302
Gene: ENSMUSG00000041890
AA Change: H172Q

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
Predicted Effect
SMART Domains Protein: ENSMUSP00000136796
Gene: ENSMUSG00000041890
AA Change: H172Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,892,016 (GRCm39) K93E probably damaging Het
Adam21 T C 12: 81,606,160 (GRCm39) Y534C probably damaging Het
Add1 A G 5: 34,763,186 (GRCm39) T125A probably damaging Het
Ank3 T C 10: 69,786,879 (GRCm39) V981A probably benign Het
Ankrd34b T A 13: 92,575,720 (GRCm39) D317E probably benign Het
Arhgap9 T C 10: 127,158,114 (GRCm39) S44P possibly damaging Het
Atg7 T C 6: 114,678,896 (GRCm39) S370P probably damaging Het
Atp1b2 T C 11: 69,492,388 (GRCm39) D224G probably damaging Het
C1qtnf6 T C 15: 78,409,283 (GRCm39) Y188C probably damaging Het
Col22a1 T C 15: 71,691,929 (GRCm39) D1297G unknown Het
Cpne7 C T 8: 123,856,951 (GRCm39) P402L probably damaging Het
Csmd1 T C 8: 16,138,325 (GRCm39) I1576V probably benign Het
Cyp2a12 T C 7: 26,735,944 (GRCm39) F451S probably damaging Het
Dusp6 T C 10: 99,099,692 (GRCm39) S47P probably benign Het
Fam163a T A 1: 155,955,730 (GRCm39) I21F probably damaging Het
Fer1l5 A G 1: 36,429,619 (GRCm39) D457G probably benign Het
Fyn C T 10: 39,402,845 (GRCm39) R206C probably damaging Het
Gm21698 T A 5: 26,190,244 (GRCm39) H151L probably damaging Het
Gm4924 T A 10: 82,213,953 (GRCm39) C584S unknown Het
Hspb8 A G 5: 116,560,492 (GRCm39) L16P probably benign Het
Ipo9 T C 1: 135,334,563 (GRCm39) H282R probably benign Het
Kcnn1 GTCCTCCTCCTCCTCCTCCTC GTCCTCCTCCTCCTCCTC 8: 71,307,810 (GRCm39) probably benign Het
Kmt2a T C 9: 44,740,130 (GRCm39) D1871G unknown Het
Lrrk2 A T 15: 91,634,469 (GRCm39) Q1411L Het
Med13 A G 11: 86,191,621 (GRCm39) S914P probably damaging Het
Med15 T C 16: 17,471,072 (GRCm39) H706R probably damaging Het
Mfsd2a T C 4: 122,843,994 (GRCm39) Y325C probably damaging Het
Mrpl9 T A 3: 94,354,558 (GRCm39) probably benign Het
Ncoa2 A C 1: 13,244,653 (GRCm39) S682A probably damaging Het
Nfe2l1 A T 11: 96,710,957 (GRCm39) M424K probably damaging Het
Nid1 T C 13: 13,652,925 (GRCm39) probably null Het
Or1f19 T G 16: 3,410,617 (GRCm39) M119R probably damaging Het
Or4f7 A G 2: 111,644,996 (GRCm39) L25P probably damaging Het
Or4k15b T C 14: 50,271,916 (GRCm39) I315V probably benign Het
Or6c69c A T 10: 129,910,941 (GRCm39) M221L probably benign Het
Or6c69c G C 10: 129,910,969 (GRCm39) S230T probably benign Het
Or6d15 C T 6: 116,559,232 (GRCm39) R225H probably benign Het
Or8g33 A T 9: 39,337,521 (GRCm39) V282E probably damaging Het
Pcnt T C 10: 76,235,826 (GRCm39) D1385G probably benign Het
Pcx A G 19: 4,669,868 (GRCm39) Y846C probably damaging Het
Prune2 A G 19: 17,097,741 (GRCm39) M1082V probably damaging Het
Ptprm A C 17: 67,263,948 (GRCm39) V433G possibly damaging Het
Pvr G T 7: 19,650,937 (GRCm39) Q196K possibly damaging Het
Reck A G 4: 43,922,809 (GRCm39) probably benign Het
Ripk2 T C 4: 16,123,795 (GRCm39) D460G probably damaging Het
Ryr2 T C 13: 11,616,724 (GRCm39) D3898G probably damaging Het
Skint8 A G 4: 111,794,210 (GRCm39) H200R probably benign Het
Slamf1 A T 1: 171,602,522 (GRCm39) D83V probably damaging Het
Snx25 T C 8: 46,521,203 (GRCm39) *143W probably null Het
Spata31d1c A G 13: 65,182,959 (GRCm39) D167G probably benign Het
Sting1 A T 18: 35,869,155 (GRCm39) I178N probably damaging Het
Syne1 T A 10: 5,289,240 (GRCm39) D1420V probably benign Het
Tlcd5 C T 9: 43,022,664 (GRCm39) R230Q probably benign Het
Tmem116 A G 5: 121,627,387 (GRCm39) S211G Het
Tmprss6 C T 15: 78,338,417 (GRCm39) V310M probably damaging Het
Ttn A G 2: 76,612,722 (GRCm39) I17119T probably damaging Het
Tubb1 T A 2: 174,299,197 (GRCm39) M293K possibly damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Uncx T C 5: 139,529,753 (GRCm39) M2T possibly damaging Het
Washc4 T C 10: 83,422,499 (GRCm39) F943L possibly damaging Het
Xkr9 G A 1: 13,742,733 (GRCm39) C6Y probably benign Het
Zfp458 A T 13: 67,407,633 (GRCm39) V74E probably benign 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
R1783:Git2 UTSW 5 114,877,185 (GRCm39) missense probably damaging 1.00
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
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'- CCATACCCAGAGTAGTCGCTTAG -3'
(R):5'- TCCATTCAAGTGTGAGAACAGG -3'

Sequencing Primer
(F):5'- CCCAGAGTAGTCGCTTAGCAAGG -3'
(R):5'- GAATCTTGAGACCTGTCTGAGAC -3'
Posted On 2021-12-30