Incidental Mutation 'R9234:Git2'
ID 700970
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.377) question?
Stock # R9234 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 114865469-114912647 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114899682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 224 (Y224N)
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: Y224N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039718
Gene: ENSMUSG00000041890
AA Change: Y224N

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: Y224N

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083754
Gene: ENSMUSG00000041890
AA Change: Y224N

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: Y224N

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107801
Gene: ENSMUSG00000041890
AA Change: Y224N

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 possibly damaging
Transcript: ENSMUST00000112185
AA Change: Y224N

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107803
Gene: ENSMUSG00000041890
AA Change: Y224N

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 possibly damaging
Transcript: ENSMUST00000131993
AA Change: Y113N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118812
Gene: ENSMUSG00000041890
AA Change: Y113N

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: Y224N

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 possibly damaging
Transcript: ENSMUST00000178440
AA Change: Y224N

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136796
Gene: ENSMUSG00000041890
AA Change: Y224N

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: 99.7%
  • 20x: 99.0%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik A G 2: 155,845,798 (GRCm39) Y20H probably benign Het
Arid5b A G 10: 67,964,628 (GRCm39) F348L possibly damaging Het
Bms1 C A 6: 118,375,044 (GRCm39) A777S probably damaging Het
C2cd3 A G 7: 100,049,012 (GRCm39) Y61C Het
Caprin2 A T 6: 148,744,337 (GRCm39) Y1029* probably null Het
Casp1 A T 9: 5,303,128 (GRCm39) D194V probably benign Het
Crkl A G 16: 17,286,822 (GRCm39) E126G probably damaging Het
Crp A T 1: 172,526,413 (GRCm39) D166V probably damaging Het
Dnah10 A C 5: 124,818,989 (GRCm39) D425A possibly damaging Het
Dnah11 A T 12: 117,951,095 (GRCm39) L3071Q probably damaging Het
Dnah9 T A 11: 65,924,751 (GRCm39) I2168F possibly damaging Het
Elp3 T A 14: 65,788,920 (GRCm39) I388F probably damaging Het
Espn C A 4: 152,217,380 (GRCm39) probably null Het
Fbrsl1 G T 5: 110,511,250 (GRCm39) F504L probably benign Het
Fzd9 A C 5: 135,279,540 (GRCm39) M115R probably damaging Het
Gm9195 A T 14: 72,695,786 (GRCm39) Y1415* probably null Het
Gnpat T A 8: 125,610,179 (GRCm39) L454Q probably damaging Het
Grm5 C T 7: 87,723,440 (GRCm39) P577S probably damaging Het
Hfm1 T C 5: 107,041,334 (GRCm39) N683S probably benign Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Leng8 C A 7: 4,145,247 (GRCm39) P216T probably damaging Het
Letm2 C A 8: 26,084,102 (GRCm39) R43L probably benign Het
Lims2 A T 18: 32,090,943 (GRCm39) Y309F probably benign Het
Llgl1 T C 11: 60,600,956 (GRCm39) probably null Het
Ltn1 A T 16: 87,194,089 (GRCm39) D1417E probably damaging Het
Map4k4 T A 1: 40,029,261 (GRCm39) N345K unknown Het
Mapre2 T C 18: 23,937,236 (GRCm39) I26T probably benign Het
Nfe2 A G 15: 103,159,636 (GRCm39) probably benign Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Ntrk1 A G 3: 87,695,622 (GRCm39) probably null Het
Or51b6b T A 7: 103,309,950 (GRCm39) Y169F possibly damaging Het
Or52e18 A G 7: 104,609,651 (GRCm39) F96S probably damaging Het
Or5h19 T C 16: 58,856,789 (GRCm39) N104D probably benign Het
Otud7b G T 3: 96,047,771 (GRCm39) Q43H probably damaging Het
Pcdhb5 T C 18: 37,453,695 (GRCm39) V25A probably benign Het
Pcolce2 A G 9: 95,560,439 (GRCm39) T163A probably benign Het
Pdgfra T A 5: 75,324,262 (GRCm39) V39E possibly damaging Het
Pdgfrb T A 18: 61,194,300 (GRCm39) W26R probably null Het
Pigp T A 16: 94,165,522 (GRCm39) *206Y probably null Het
Pip5kl1 G T 2: 32,468,211 (GRCm39) G126C probably benign Het
Plekhg2 G T 7: 28,064,215 (GRCm39) T442K probably benign Het
Prmt5 A T 14: 54,748,674 (GRCm39) S375T possibly damaging Het
Rnf213 T A 11: 119,340,943 (GRCm39) M3529K Het
Ror2 C A 13: 53,265,374 (GRCm39) D573Y probably damaging Het
Shank1 A G 7: 43,962,579 (GRCm39) T98A unknown Het
Shcbp1 A T 8: 4,798,800 (GRCm39) I373K possibly damaging Het
Slc25a42 A G 8: 70,642,736 (GRCm39) S64P probably damaging Het
Smco3 T A 6: 136,808,410 (GRCm39) I155F probably damaging Het
Snx4 C A 16: 33,087,161 (GRCm39) S102* probably null Het
Snx4 T A 16: 33,108,069 (GRCm39) S288T probably benign Het
Socs4 A G 14: 47,527,716 (GRCm39) N217S probably benign Het
Tatdn2 G A 6: 113,679,683 (GRCm39) probably null Het
Tmprss2 A G 16: 97,379,821 (GRCm39) Y160H probably damaging Het
Trim37 T C 11: 87,036,393 (GRCm39) I158T possibly damaging Het
Trip11 C T 12: 101,811,990 (GRCm39) probably null Het
Ubr3 G A 2: 69,727,990 (GRCm39) A118T probably benign Het
Ubxn7 T C 16: 32,178,895 (GRCm39) probably null Het
Unc5cl C T 17: 48,770,658 (GRCm39) H369Y probably damaging Het
Unc5d A T 8: 29,250,877 (GRCm39) N263K probably damaging Het
Vmn2r59 A G 7: 41,661,907 (GRCm39) I636T possibly damaging Het
Vps13d G T 4: 144,875,792 (GRCm39) Q1578K Het
Wnk2 T C 13: 49,224,274 (GRCm39) D1171G probably damaging Het
Zfpm2 A G 15: 40,966,470 (GRCm39) Y985C probably damaging Het
Zpbp2 A T 11: 98,443,398 (GRCm39) N77I 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
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
R9488:Git2 UTSW 5 114,904,533 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TTACACTGTCTGCCCAAATACA -3'
(R):5'- AAACTATCTTGGGTGGGAGCC -3'

Sequencing Primer
(F):5'- CAAACCCTACTGATAATCATCTTCTC -3'
(R):5'- AAGTGATGGTGATAGTCCGCC -3'
Posted On 2022-03-25