Incidental Mutation 'R6195:Git2'
ID 502842
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 044335-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.377) question?
Stock # R6195 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 114865469-114912647 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114905175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 94 (N94S)
Ref Sequence ENSEMBL: ENSMUSP00000107803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043283] [ENSMUST00000086564] [ENSMUST00000112183] [ENSMUST00000112185] [ENSMUST00000131016] [ENSMUST00000178440] [ENSMUST00000155908] [ENSMUST00000131993]
AlphaFold Q9JLQ2
Predicted Effect probably benign
Transcript: ENSMUST00000043283
AA Change: N94S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000039718
Gene: ENSMUSG00000041890
AA Change: N94S

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
AA Change: N94S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000083754
Gene: ENSMUSG00000041890
AA Change: N94S

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
AA Change: N94S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107801
Gene: ENSMUSG00000041890
AA Change: N94S

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 benign
Transcript: ENSMUST00000112185
AA Change: N94S

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107803
Gene: ENSMUSG00000041890
AA Change: N94S

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
AA Change: N89S

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000116722
Gene: ENSMUSG00000041890
AA Change: N89S

DomainStartEndE-ValueType
ArfGap 9 119 4.52e-41 SMART
ANK 127 156 2.55e2 SMART
ANK 161 190 1.21e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131582
Predicted Effect probably benign
Transcript: ENSMUST00000178440
AA Change: N94S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000136796
Gene: ENSMUSG00000041890
AA Change: N94S

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 probably benign
Transcript: ENSMUST00000155908
AA Change: N94S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000122302
Gene: ENSMUSG00000041890
AA Change: N94S

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 noncoding transcript
Transcript: ENSMUST00000144191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133096
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 noncoding transcript
Transcript: ENSMUST00000153756
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 97% (76/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,857,142 (GRCm39) probably null Het
Aadacl2fm2 G A 3: 59,659,623 (GRCm39) V359I probably damaging Het
Abtb1 T C 6: 88,817,718 (GRCm39) E50G probably benign Het
Agbl2 T A 2: 90,643,657 (GRCm39) D792E probably benign Het
Aoc1 C A 6: 48,885,611 (GRCm39) N705K probably damaging Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Arhgef7 C T 8: 11,872,017 (GRCm39) T701I probably damaging Het
Atg10 G T 13: 91,356,555 (GRCm39) probably null Het
Atp5f1c T C 2: 10,068,926 (GRCm39) I116M possibly damaging Het
Baz2b T A 2: 59,737,855 (GRCm39) Q1818L possibly damaging Het
Bod1 A G 11: 31,616,740 (GRCm39) *174Q probably null Het
Cacna1a A G 8: 85,315,382 (GRCm39) Y1539C probably damaging Het
Creb3 A G 4: 43,566,346 (GRCm39) D260G probably benign Het
Cyp1b1 G T 17: 80,021,695 (GRCm39) L16M probably damaging Het
Dhx29 T A 13: 113,101,071 (GRCm39) S1205T probably benign Het
Dlec1 A G 9: 118,966,321 (GRCm39) K1097E probably benign Het
Dnah7b G A 1: 46,243,429 (GRCm39) D1578N probably damaging Het
Dok3 T C 13: 55,671,389 (GRCm39) N394S probably benign Het
Dpcd A G 19: 45,565,458 (GRCm39) D144G probably damaging Het
Efhb A G 17: 53,769,580 (GRCm39) F243S possibly damaging Het
Eif2ak2 A T 17: 79,178,662 (GRCm39) Y137* probably null Het
Eif4e1b A G 13: 54,932,018 (GRCm39) N34S probably null Het
F2rl3 A G 8: 73,489,513 (GRCm39) T247A probably benign Het
Fan1 A T 7: 64,004,119 (GRCm39) H782Q probably damaging Het
Fer1l5 T C 1: 36,414,367 (GRCm39) probably null Het
Fer1l6 T C 15: 58,509,806 (GRCm39) S1423P probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fgfbp1 T C 5: 44,136,704 (GRCm39) D196G possibly damaging Het
Fxn G A 19: 24,239,407 (GRCm39) R162C probably damaging Het
Fxr2 C T 11: 69,543,099 (GRCm39) T632M probably benign Het
Gab1 A T 8: 81,606,161 (GRCm39) Y24* probably null Het
Gcc2 T C 10: 58,106,806 (GRCm39) S681P probably damaging Het
Gm5799 T G 14: 43,782,088 (GRCm39) L87V probably damaging Het
Golga7b A T 19: 42,251,886 (GRCm39) D44V probably benign Het
Hace1 T A 10: 45,546,539 (GRCm39) I391N possibly damaging Het
Hmcn2 T C 2: 31,274,127 (GRCm39) S1416P probably damaging Het
Hoxa11 G A 6: 52,222,681 (GRCm39) R7C probably damaging Het
Igkv14-126 A T 6: 67,873,475 (GRCm39) T68S possibly damaging Het
Insyn2a T C 7: 134,520,377 (GRCm39) D51G probably damaging Het
Itpr3 T C 17: 27,305,934 (GRCm39) I164T probably damaging Het
Kif22 A G 7: 126,628,131 (GRCm39) S540P probably damaging Het
Ldlr T A 9: 21,643,077 (GRCm39) C34* probably null Het
Lrrtm4 T C 6: 79,998,939 (GRCm39) L117P probably damaging Het
Mad2l1 G T 6: 66,514,612 (GRCm39) G94C possibly damaging Het
Malrd1 C A 2: 15,700,137 (GRCm39) H661Q probably damaging Het
Mical3 T A 6: 120,993,796 (GRCm39) probably benign Het
Mipep T A 14: 61,109,554 (GRCm39) W644R probably damaging Het
Mycl A G 4: 122,893,713 (GRCm39) D171G probably damaging Het
Myof A G 19: 37,901,805 (GRCm39) F997L possibly damaging Het
Nagpa C T 16: 5,021,613 (GRCm39) R46H probably damaging Het
Nf1 A G 11: 79,456,801 (GRCm39) Y629C probably damaging Het
Obscn T A 11: 58,888,033 (GRCm39) E2164V probably damaging Het
Or52h1 A T 7: 103,828,961 (GRCm39) V218D possibly damaging Het
Or5ac23 A G 16: 59,149,785 (GRCm39) V29A possibly damaging Het
Or5w19 T C 2: 87,698,904 (GRCm39) S190P possibly damaging Het
Or8k25 T C 2: 86,243,551 (GRCm39) I282V probably damaging Het
Pcdh20 T C 14: 88,705,488 (GRCm39) E604G probably benign Het
Pcdhb7 G A 18: 37,475,709 (GRCm39) V282I probably benign Het
Pcnx4 A G 12: 72,603,648 (GRCm39) D523G possibly damaging Het
Pigx G A 16: 31,903,404 (GRCm39) T219I probably damaging Het
Plch1 G T 3: 63,648,210 (GRCm39) P399Q probably damaging Het
Pvrig-ps T A 5: 138,340,537 (GRCm39) F74I possibly damaging Het
Rsrp1 T A 4: 134,654,113 (GRCm39) I255K probably damaging Het
Scn1a T A 2: 66,107,962 (GRCm39) Y1588F possibly damaging Het
Serpina9 T A 12: 103,967,666 (GRCm39) H243L probably damaging Het
Tapbp T C 17: 34,138,956 (GRCm39) L41P probably damaging Het
Tbc1d16 T A 11: 119,101,391 (GRCm39) K40* probably null Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tbc1d23 T C 16: 57,051,713 (GRCm39) E6G possibly damaging Het
Tdrd6 A G 17: 43,940,643 (GRCm39) V135A probably damaging Het
Tmem87a A T 2: 120,222,656 (GRCm39) probably null Het
Tnrc18 T A 5: 142,750,928 (GRCm39) K1217N unknown Het
Trim33 G A 3: 103,244,848 (GRCm39) probably null Het
Ttn T A 2: 76,567,997 (GRCm39) Y27632F probably benign Het
Tubgcp6 A T 15: 89,006,994 (GRCm39) D9E probably benign Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Zfp655 T A 5: 145,180,572 (GRCm39) F143L 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
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
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'- AACTTCAATTGGGTGAGCATCC -3'
(R):5'- AGGTCCCCAGATATGGAGTG -3'

Sequencing Primer
(F):5'- GTGAGCATCCAAAGTTATGGTCCC -3'
(R):5'- CCCCAGATATGGAGTGTTTTTAGTGC -3'
Posted On 2018-02-27