Incidental Mutation 'R4702:Git2'
ID 356120
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 041950-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.377) question?
Stock # R4702 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 114865469-114912647 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114883543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 396 (S396P)
Ref Sequence ENSEMBL: ENSMUSP00000107803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043283] [ENSMUST00000086564] [ENSMUST00000112183] [ENSMUST00000112185] [ENSMUST00000131993] [ENSMUST00000178440] [ENSMUST00000155908] [ENSMUST00000146044]
AlphaFold Q9JLQ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000043283
AA Change: S397P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039718
Gene: ENSMUSG00000041890
AA Change: S397P

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: S397P

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083754
Gene: ENSMUSG00000041890
AA Change: S397P

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: S399P

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107801
Gene: ENSMUSG00000041890
AA Change: S399P

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: S396P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107803
Gene: ENSMUSG00000041890
AA Change: S396P

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: S59P
SMART Domains Protein: ENSMUSP00000115185
Gene: ENSMUSG00000041890
AA Change: S59P

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 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 possibly damaging
Transcript: ENSMUST00000178440
AA Change: S398P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136796
Gene: ENSMUSG00000041890
AA Change: S398P

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 unknown
Transcript: ENSMUST00000155908
AA Change: S397P
SMART Domains Protein: ENSMUSP00000122302
Gene: ENSMUSG00000041890
AA Change: S397P

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: ENSMUST00000201442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153756
Predicted Effect probably benign
Transcript: ENSMUST00000146044
SMART Domains Protein: ENSMUSP00000115988
Gene: ENSMUSG00000041890

DomainStartEndE-ValueType
PDB:2W6A|B 3 59 5e-16 PDB
Pfam:GIT1_C 182 306 2.4e-65 PFAM
Meta Mutation Damage Score 0.0887 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,509 (GRCm39) T390A probably benign Het
Adam25 G T 8: 41,207,163 (GRCm39) C143F probably damaging Het
Adra1a T C 14: 66,875,008 (GRCm39) probably benign Het
Aff1 T C 5: 103,958,935 (GRCm39) Y343H probably damaging Het
Antxr2 C T 5: 98,097,028 (GRCm39) probably null Het
Ap1m2 A G 9: 21,209,591 (GRCm39) F362L probably benign Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Armc3 A G 2: 19,314,792 (GRCm39) N822S probably damaging Het
Atr A C 9: 95,802,408 (GRCm39) T1767P possibly damaging Het
B4galnt1 G T 10: 127,003,394 (GRCm39) V172F possibly damaging Het
Bloc1s1 T A 10: 128,759,267 (GRCm39) Q13L probably damaging Het
Blvra A C 2: 126,933,982 (GRCm39) I125L probably benign Het
Caps2 T C 10: 112,044,252 (GRCm39) F484L probably damaging Het
Cep76 A T 18: 67,767,968 (GRCm39) I188K possibly damaging Het
Cidea T A 18: 67,500,498 (GRCm39) F187I probably benign Het
Cntn3 T A 6: 102,142,292 (GRCm39) N1025I probably benign Het
Cntnap3 A T 13: 64,926,676 (GRCm39) C565S probably benign Het
Cyp2d22 A C 15: 82,260,118 (GRCm39) L22R probably damaging Het
Cyp2d26 C T 15: 82,676,648 (GRCm39) probably benign Het
Cyp2j12 A T 4: 96,021,230 (GRCm39) probably null Het
Dnajb13 T C 7: 100,153,748 (GRCm39) N229S probably benign Het
Dpys A G 15: 39,656,798 (GRCm39) V423A possibly damaging Het
Eif4e1b A T 13: 54,935,138 (GRCm39) I222F probably damaging Het
Eif5b A T 1: 38,057,958 (GRCm39) N87Y unknown Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Epha7 T A 4: 28,961,425 (GRCm39) L890Q probably damaging Het
Fancm T A 12: 65,168,826 (GRCm39) S1730T possibly damaging Het
Flrt3 A G 2: 140,503,575 (GRCm39) F18L probably benign Het
H2-M10.4 A G 17: 36,772,874 (GRCm39) I36T probably benign Het
Igfn1 G A 1: 135,894,947 (GRCm39) S1873L possibly damaging Het
Ints12 A T 3: 132,802,546 (GRCm39) D10V probably damaging Het
Kbtbd2 A G 6: 56,756,288 (GRCm39) S483P probably benign Het
Kcnv2 G C 19: 27,300,967 (GRCm39) A273P probably damaging Het
Klc3 T G 7: 19,129,756 (GRCm39) D371A probably damaging Het
Lama3 T A 18: 12,711,086 (GRCm39) L1567* probably null Het
Ldhal6b G T 17: 5,468,582 (GRCm39) H117Q probably damaging Het
Lrriq1 G T 10: 103,051,610 (GRCm39) Q381K possibly damaging Het
Mrps31 T A 8: 22,909,754 (GRCm39) L140Q probably damaging Het
Myo15b A G 11: 115,774,834 (GRCm39) T2119A probably benign Het
Nkx6-2 T C 7: 139,161,456 (GRCm39) D243G probably damaging Het
Or1ab2 T A 8: 72,864,044 (GRCm39) F211L probably damaging Het
Or8b3b A T 9: 38,584,776 (GRCm39) M1K probably null Het
Papln C T 12: 83,828,757 (GRCm39) T821I probably benign Het
Pitpnb T G 5: 111,519,218 (GRCm39) V166G probably benign Het
Pla2g15 T A 8: 106,889,691 (GRCm39) M321K probably benign Het
Plcxd3 C A 15: 4,405,269 (GRCm39) S25R probably benign Het
Ppargc1a T C 5: 51,653,038 (GRCm39) I175V possibly damaging Het
Ppp1r13b T A 12: 111,799,715 (GRCm39) Q687H probably benign Het
Prpf3 A G 3: 95,741,404 (GRCm39) V584A probably damaging Het
Psen2 A G 1: 180,055,289 (GRCm39) L399S probably damaging Het
Ptchd3 G A 11: 121,727,235 (GRCm39) V370I probably damaging Het
Rasa3 G T 8: 13,620,394 (GRCm39) D758E probably benign Het
Reck T C 4: 43,898,060 (GRCm39) C113R probably damaging Het
Resf1 A G 6: 149,230,901 (GRCm39) T1316A probably benign Het
Ric1 T A 19: 29,575,417 (GRCm39) F1009I possibly damaging Het
Rrp12 T C 19: 41,859,975 (GRCm39) N1035S probably damaging Het
Rtel1 T A 2: 180,993,962 (GRCm39) S849T probably benign Het
Scn10a A T 9: 119,462,857 (GRCm39) Y1060N possibly damaging Het
Selenov A G 7: 27,987,436 (GRCm39) L314P probably damaging Het
Selplg T C 5: 113,957,094 (GRCm39) D404G probably benign Het
Slc7a14 T A 3: 31,284,547 (GRCm39) Y263F probably damaging Het
Slco3a1 A G 7: 73,970,315 (GRCm39) S431P probably damaging Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Spopl A T 2: 23,405,309 (GRCm39) probably null Het
Stk10 A T 11: 32,505,172 (GRCm39) T69S probably benign Het
Tbxas1 T C 6: 39,060,791 (GRCm39) probably null Het
Tec G A 5: 72,941,074 (GRCm39) P161L possibly damaging Het
Tnip1 A G 11: 54,815,228 (GRCm39) S339P probably benign Het
Tsen34 T A 7: 3,703,632 (GRCm39) V290D probably damaging Het
Tuba1a T A 15: 98,849,563 (GRCm39) I5F possibly damaging Het
Vmn1r31 C A 6: 58,448,953 (GRCm39) *304L probably null Het
Vmn1r63 T C 7: 5,806,516 (GRCm39) R39G possibly damaging Het
Xylt2 A G 11: 94,560,355 (GRCm39) Y307H possibly damaging Het
Zfp65 A G 13: 67,872,341 (GRCm39) M1T probably null Het
Zmym4 T C 4: 126,816,958 (GRCm39) I247V 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
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'- AGCCTAACTTGAGCCCTCTC -3'
(R):5'- TGGCTAAACCAGAAAGTCACCTTAG -3'

Sequencing Primer
(F):5'- CTTCTGGTGGCACTGGGAAATAAAC -3'
(R):5'- GAGAACAGTCAGTACCCA -3'
Posted On 2015-10-21