Incidental Mutation 'R5236:Git2'
ID 398379
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 044393-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.415) question?
Stock # R5236 (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 A at 114905233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 75 (I75L)
Ref Sequence ENSEMBL: ENSMUSP00000039718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043283] [ENSMUST00000086564] [ENSMUST00000112183] [ENSMUST00000112185] [ENSMUST00000131016] [ENSMUST00000131993] [ENSMUST00000178440] [ENSMUST00000155908]
AlphaFold Q9JLQ2
Predicted Effect probably damaging
Transcript: ENSMUST00000043283
AA Change: I75L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039718
Gene: ENSMUSG00000041890
AA Change: I75L

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 possibly damaging
Transcript: ENSMUST00000086564
AA Change: I75L

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083754
Gene: ENSMUSG00000041890
AA Change: I75L

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 possibly damaging
Transcript: ENSMUST00000112183
AA Change: I75L

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107801
Gene: ENSMUSG00000041890
AA Change: I75L

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: I75L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107803
Gene: ENSMUSG00000041890
AA Change: I75L

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: I70L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116722
Gene: ENSMUSG00000041890
AA Change: I70L

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: 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: ENSMUST00000133096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153756
Predicted Effect probably damaging
Transcript: ENSMUST00000178440
AA Change: I75L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136796
Gene: ENSMUSG00000041890
AA Change: I75L

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: I75L

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122302
Gene: ENSMUSG00000041890
AA Change: I75L

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.4%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik T A 9: 101,820,120 (GRCm39) I180N possibly damaging Het
Actl9 T C 17: 33,653,073 (GRCm39) S378P probably damaging Het
Agrn A T 4: 156,263,315 (GRCm39) C263S possibly damaging Het
Ahnak A G 19: 8,978,048 (GRCm39) I56V possibly damaging Het
Arid4b A G 13: 14,301,034 (GRCm39) probably null Het
Bin2 T C 15: 100,560,415 (GRCm39) N49D probably damaging Het
Ccdc39 T C 3: 33,884,251 (GRCm39) T364A probably damaging Het
Cdcp1 A T 9: 123,014,258 (GRCm39) V172D probably damaging Het
Cdh23 A G 10: 60,148,351 (GRCm39) L2670P probably damaging Het
Cmtm4 G C 8: 105,084,378 (GRCm39) F105L probably damaging Het
Cspg4b A G 13: 113,502,754 (GRCm39) Y153C probably benign Het
Ctsa G A 2: 164,680,831 (GRCm39) V453M probably damaging Het
Cyp3a59 A G 5: 146,039,635 (GRCm39) I303V probably benign Het
Cyp4f17 T C 17: 32,739,606 (GRCm39) probably null Het
Dst C T 1: 34,203,498 (GRCm39) R447C probably damaging Het
E2f7 C T 10: 110,603,070 (GRCm39) P362S probably damaging Het
Fbxw9 A G 8: 85,792,974 (GRCm39) T407A probably damaging Het
Fyb2 T C 4: 104,805,957 (GRCm39) S346P probably benign Het
H2-DMa T A 17: 34,356,913 (GRCm39) L137Q probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hrg T C 16: 22,780,263 (GRCm39) probably benign Het
Htr7 A T 19: 36,034,169 (GRCm39) I162N probably damaging Het
Itpripl1 A T 2: 126,983,770 (GRCm39) F117L probably damaging Het
Kri1 T C 9: 21,187,237 (GRCm39) Y392C probably damaging Het
Krt27 A C 11: 99,241,641 (GRCm39) S87A possibly damaging Het
Lama1 T C 17: 68,111,487 (GRCm39) V2246A probably benign Het
Lcn2 A T 2: 32,275,973 (GRCm39) M119K probably benign Het
Lrp2 T C 2: 69,287,163 (GRCm39) probably null Het
Lrp6 T C 6: 134,488,227 (GRCm39) N290D probably damaging Het
Macf1 T C 4: 123,291,614 (GRCm39) E2517G probably damaging Het
Melk G A 4: 44,344,959 (GRCm39) C363Y probably benign Het
Mettl22 T A 16: 8,306,597 (GRCm39) L351* probably null Het
Mms22l A G 4: 24,588,347 (GRCm39) Q953R probably benign Het
Ndufaf7 T C 17: 79,247,060 (GRCm39) S107P probably benign Het
Opa3 A G 7: 18,978,682 (GRCm39) Y49C probably damaging Het
Or2a12 A C 6: 42,904,715 (GRCm39) R183S probably benign Het
Or9a2 C A 6: 41,749,045 (GRCm39) G63C probably benign Het
Pabpn1 T A 14: 55,132,399 (GRCm39) M145K possibly damaging Het
Plce1 A C 19: 38,758,791 (GRCm39) M1982L probably benign Het
Ppcdc A C 9: 57,321,937 (GRCm39) I201S probably benign Het
Rag2 A T 2: 101,460,005 (GRCm39) D105V probably damaging Het
Rnf130 C T 11: 49,986,805 (GRCm39) T383I probably damaging Het
Sgip1 T G 4: 102,784,784 (GRCm39) probably null Het
Slc23a2 T A 2: 131,917,504 (GRCm39) I245F probably damaging Het
Slc4a9 A G 18: 36,663,900 (GRCm39) Y308C probably benign Het
Slc7a15 C T 12: 8,589,005 (GRCm39) V181M probably benign Het
Sprr2b G A 3: 92,224,943 (GRCm39) C63Y unknown Het
Stpg2 A T 3: 138,937,984 (GRCm39) Y181F probably damaging Het
Sult2a5 A T 7: 13,398,974 (GRCm39) T194S probably benign Het
Tbx15 A T 3: 99,259,362 (GRCm39) Q411L possibly damaging Het
Tln2 T A 9: 67,273,205 (GRCm39) E427V probably damaging Het
Trpv4 A C 5: 114,760,856 (GRCm39) V825G possibly damaging Het
Trrap A G 5: 144,754,596 (GRCm39) I1968V probably benign Het
Ttn G A 2: 76,619,146 (GRCm39) L16078F probably damaging Het
Unc45b T A 11: 82,805,888 (GRCm39) F132I possibly damaging Het
Unc79 T A 12: 103,060,654 (GRCm39) probably null Het
Vmn2r71 A T 7: 85,272,877 (GRCm39) N564Y probably damaging Het
Zfp638 G T 6: 83,953,557 (GRCm39) E1221* probably null Het
Zfp934 A T 13: 62,665,527 (GRCm39) H371Q probably damaging Het
Zranb3 A G 1: 127,968,726 (GRCm39) L63P probably 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
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'- GAGCATCCAAAGTTATGGTCCC -3'
(R):5'- TCTCACTGTGCAGTCAGACG -3'

Sequencing Primer
(F):5'- AAAGTTATGGTCCCCCTGCC -3'
(R):5'- GCAGTGGCGGGAGGTCC -3'
Posted On 2016-07-06