Incidental Mutation 'R9022:Git2'
ID 686273
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 068852-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.415) question?
Stock # R9022 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 114865469-114912647 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 114907676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000043283
SMART Domains Protein: ENSMUSP00000039718
Gene: ENSMUSG00000041890

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 benign
Transcript: ENSMUST00000086564
SMART Domains Protein: ENSMUSP00000083754
Gene: ENSMUSG00000041890

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 benign
Transcript: ENSMUST00000112183
SMART Domains Protein: ENSMUSP00000107801
Gene: ENSMUSG00000041890

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 null
Transcript: ENSMUST00000112185
SMART Domains Protein: ENSMUSP00000107803
Gene: ENSMUSG00000041890

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 benign
Transcript: ENSMUST00000131016
SMART Domains Protein: ENSMUSP00000116722
Gene: ENSMUSG00000041890

DomainStartEndE-ValueType
ArfGap 9 119 4.52e-41 SMART
ANK 127 156 2.55e2 SMART
ANK 161 190 1.21e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131993
SMART Domains Protein: ENSMUSP00000118812
Gene: ENSMUSG00000041890

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 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
Predicted Effect probably benign
Transcript: ENSMUST00000178440
SMART Domains Protein: ENSMUSP00000136796
Gene: ENSMUSG00000041890

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
Meta Mutation Damage Score 0.9502 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (84/84)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a G T 3: 32,769,649 (GRCm39) A155S probably benign Het
Adar A G 3: 89,643,045 (GRCm39) T309A probably benign Het
Adgrv1 A T 13: 81,303,312 (GRCm39) W6125R probably damaging Het
Adprhl1 A G 8: 13,274,352 (GRCm39) L802P probably benign Het
Ahcy A G 2: 154,910,779 (GRCm39) L63P probably damaging Het
Ang5 G A 14: 44,200,352 (GRCm39) D139N probably damaging Het
Ankrd31 A G 13: 96,962,655 (GRCm39) D482G probably benign Het
Arhgef7 A G 8: 11,850,469 (GRCm39) N257D probably benign Het
Art3 C A 5: 92,540,393 (GRCm39) S45R probably benign Het
Atxn1 T C 13: 45,720,891 (GRCm39) R335G probably damaging Het
Bag6 T A 17: 35,363,641 (GRCm39) L775H probably damaging Het
BC004004 T G 17: 29,501,130 (GRCm39) H26Q possibly damaging Het
Camsap3 T C 8: 3,656,575 (GRCm39) L986S probably benign Het
Cbx5 T C 15: 103,121,586 (GRCm39) E17G probably damaging Het
Cc2d1b T C 4: 108,484,617 (GRCm39) probably null Het
Ccdc59 T C 10: 105,683,007 (GRCm39) Y231H probably damaging Het
Cemip2 T C 19: 21,789,986 (GRCm39) probably null Het
Csnk1g1 T C 9: 65,917,854 (GRCm39) probably null Het
Cybrd1 A G 2: 70,967,904 (GRCm39) I158M possibly damaging Het
Disp2 T A 2: 118,621,179 (GRCm39) I637N probably benign Het
Dll4 TC T 2: 119,163,054 (GRCm39) probably null Het
Dnah7a T C 1: 53,512,116 (GRCm39) probably null Het
Duox2 C A 2: 122,110,919 (GRCm39) *1518L probably null Het
Dym A G 18: 75,258,507 (GRCm39) I422V probably benign Het
Entpd8 A C 2: 24,975,144 (GRCm39) I492L probably benign Het
Fabp12 A G 3: 10,317,333 (GRCm39) S13P probably damaging Het
Fam124b A G 1: 80,190,705 (GRCm39) I226T probably damaging Het
Fer1l6 T C 15: 58,455,329 (GRCm39) L763P probably damaging Het
Gltpd2 A T 11: 70,410,153 (GRCm39) Y37F probably benign Het
Gm44511 T G 6: 128,797,271 (GRCm39) Q72H possibly damaging Het
Grid2ip A T 5: 143,366,204 (GRCm39) T565S probably benign Het
Grk6 T C 13: 55,606,877 (GRCm39) S532P possibly damaging Het
Haspin A T 11: 73,026,831 (GRCm39) F753I probably damaging Het
Herpud1 T A 8: 95,116,197 (GRCm39) S92T possibly damaging Het
Heyl C T 4: 123,139,768 (GRCm39) A109V probably damaging Het
Hivep3 T C 4: 119,955,304 (GRCm39) S1207P probably benign Het
Hk1 A G 10: 62,105,768 (GRCm39) S893P probably damaging Het
Itih1 C A 14: 30,652,327 (GRCm39) V789L probably benign Het
Kif12 T C 4: 63,090,121 (GRCm39) D10G possibly damaging Het
Kif16b C T 2: 142,554,537 (GRCm39) E754K possibly damaging Het
Kif20a A G 18: 34,760,898 (GRCm39) Q191R probably benign Het
Lap3 A G 5: 45,652,548 (GRCm39) D48G probably benign Het
Matn3 T A 12: 9,002,355 (GRCm39) V189E probably damaging Het
Mbp G A 18: 82,597,067 (GRCm39) E143K possibly damaging Het
Mrgprd A G 7: 144,875,555 (GRCm39) H142R probably benign Het
Nbea A T 3: 55,551,110 (GRCm39) C2685S possibly damaging Het
Nhsl1 A C 10: 18,403,409 (GRCm39) I1381L possibly damaging Het
Npc1 A G 18: 12,346,422 (GRCm39) M258T probably benign Het
Or2w3 T C 11: 58,556,550 (GRCm39) L55P probably damaging Het
Or7e178 T A 9: 20,225,268 (GRCm39) N316I probably damaging Het
Osbpl10 C T 9: 114,807,939 (GRCm39) A65V unknown Het
Pdia4 C G 6: 47,785,149 (GRCm39) A73P probably benign Het
Plxnb2 T C 15: 89,048,471 (GRCm39) Y646C possibly damaging Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Pold2 T C 11: 5,824,121 (GRCm39) D228G probably benign Het
Popdc2 T G 16: 38,194,508 (GRCm39) C310G probably benign Het
Prdm10 A G 9: 31,268,424 (GRCm39) Y791C probably benign Het
Psg19 C T 7: 18,530,762 (GRCm39) V131I probably benign Het
Psg19 T A 7: 18,531,044 (GRCm39) T37S probably benign Het
Psme1 A G 14: 55,817,271 (GRCm39) E39G probably damaging Het
Rabep2 A G 7: 126,043,719 (GRCm39) E472G probably damaging Het
Rap1gap T C 4: 137,445,309 (GRCm39) F297S probably damaging Het
Reln A G 5: 22,181,613 (GRCm39) S1757P possibly damaging Het
Rybp G T 6: 100,210,074 (GRCm39) D95E possibly damaging Het
Slc12a8 T A 16: 33,466,934 (GRCm39) D480E probably benign Het
Slc25a1 A G 16: 17,745,294 (GRCm39) V80A probably benign Het
Slc25a24 A T 3: 109,070,757 (GRCm39) D372V probably benign Het
Slc49a4 T C 16: 35,570,912 (GRCm39) T131A probably benign Het
Stab1 T C 14: 30,882,226 (GRCm39) T490A probably benign Het
Stat5b A T 11: 100,681,634 (GRCm39) I540N probably benign Het
Tasor2 A G 13: 3,626,659 (GRCm39) V1097A probably benign Het
Thy1 T A 9: 43,957,947 (GRCm39) L25Q probably damaging Het
Trim30a A G 7: 104,084,956 (GRCm39) S85P probably benign Het
Use1 G A 8: 71,819,942 (GRCm39) V36I probably benign Het
Vmn1r228 T A 17: 20,996,778 (GRCm39) I247F probably damaging Het
Vmn2r13 T A 5: 109,304,242 (GRCm39) T730S possibly damaging Het
Vmn2r9 T C 5: 108,992,923 (GRCm39) D529G possibly damaging Het
Washc5 A G 15: 59,217,233 (GRCm39) I778T possibly damaging Het
Washc5 A T 15: 59,233,069 (GRCm39) M294K probably damaging Het
Wnt8a A T 18: 34,680,298 (GRCm39) D221V probably damaging Het
Zfp616 A G 11: 73,976,539 (GRCm39) K936R probably damaging Het
Zfp618 G A 4: 63,012,687 (GRCm39) C133Y probably damaging Het
Zfp82 A G 7: 29,761,714 (GRCm39) S56P probably damaging Het
Zkscan16 T A 4: 58,957,021 (GRCm39) D434E 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
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'- GTCTATGTATAACTGAATGTGGGGAAC -3'
(R):5'- CTGTACACAGCAGCCAATTGG -3'

Sequencing Primer
(F):5'- GGGGAACACAATTATGTTAGGTAAAC -3'
(R):5'- CAGCAGCCAATTGGTGTCCTTG -3'
Posted On 2021-10-11