Incidental Mutation 'R4367:Git2'
| ID |
325795 |
| 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 |
041673-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.377)
|
| Stock # |
R4367 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114865469-114912647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 114902727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 138
(H138L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107803
(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: H138L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039718
Gene: ENSMUSG00000041890
AA Change: H138L
| Domain | Start | End | E-Value | Type |
|---|
|
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: H138L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000083754
Gene: ENSMUSG00000041890
AA Change: H138L
| Domain | Start | End | E-Value | Type |
|---|
|
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: H138L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107801
Gene: ENSMUSG00000041890
AA Change: H138L
| Domain | Start | End | E-Value | Type |
|---|
|
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: H138L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107803
Gene: ENSMUSG00000041890
AA Change: H138L
| Domain | Start | End | E-Value | Type |
|---|
|
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: H133L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116722
Gene: ENSMUSG00000041890
AA Change: H133L
| Domain | Start | End | E-Value | Type |
|---|
|
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
AA Change: H27L
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118812
Gene: ENSMUSG00000041890
AA Change: H27L
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000144191
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178440
AA Change: H138L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136796
Gene: ENSMUSG00000041890
AA Change: H138L
| Domain | Start | End | E-Value | Type |
|---|
|
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: H138L
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122302
Gene: ENSMUSG00000041890
AA Change: H138L
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000202581
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153756
|
| Meta Mutation Damage Score |
0.6755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
98% (54/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb2 |
T |
C |
18: 62,312,127 (GRCm39) |
I233V |
probably damaging |
Het |
| Alox5 |
T |
A |
6: 116,437,924 (GRCm39) |
Y21F |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,798 (GRCm39) |
T1942A |
probably benign |
Het |
| Aoc1l1 |
T |
C |
6: 48,953,064 (GRCm39) |
S330P |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
| Casp1 |
A |
G |
9: 5,299,333 (GRCm39) |
T21A |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,880,671 (GRCm39) |
H432R |
probably benign |
Het |
| Cttnbp2 |
A |
C |
6: 18,405,248 (GRCm39) |
C574G |
probably damaging |
Het |
| Cyp1a1 |
T |
C |
9: 57,607,432 (GRCm39) |
V20A |
probably benign |
Het |
| Dhx38 |
C |
T |
8: 110,279,763 (GRCm39) |
V976I |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,126,467 (GRCm39) |
S1287P |
possibly damaging |
Het |
| Dnttip2 |
T |
C |
3: 122,070,146 (GRCm39) |
S454P |
probably damaging |
Het |
| Drp2 |
A |
T |
X: 133,335,884 (GRCm39) |
|
probably benign |
Het |
| Flcn |
C |
T |
11: 59,694,610 (GRCm39) |
V121I |
possibly damaging |
Het |
| Fmo1 |
G |
C |
1: 162,661,217 (GRCm39) |
Y355* |
probably null |
Het |
| Gpr162 |
G |
A |
6: 124,838,658 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,797,638 (GRCm39) |
I881T |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,646,747 (GRCm39) |
C1754S |
probably damaging |
Het |
| Mpp3 |
A |
T |
11: 101,914,246 (GRCm39) |
D116E |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,036,747 (GRCm39) |
D985G |
probably damaging |
Het |
| Necap1 |
T |
C |
6: 122,864,337 (GRCm39) |
V273A |
probably damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,203,192 (GRCm39) |
S431P |
probably damaging |
Het |
| Nutm2 |
A |
T |
13: 50,623,920 (GRCm39) |
T206S |
probably benign |
Het |
| Or2d3 |
GAACAACAACAA |
GAACAACAA |
7: 106,490,567 (GRCm39) |
|
probably benign |
Het |
| Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
| Or8g19 |
G |
A |
9: 39,055,725 (GRCm39) |
A110T |
probably damaging |
Het |
| Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,853,897 (GRCm39) |
R89H |
probably benign |
Het |
| Prpf38b |
T |
C |
3: 108,818,487 (GRCm39) |
Y91C |
probably damaging |
Het |
| Radil |
C |
T |
5: 142,480,560 (GRCm39) |
A632T |
probably benign |
Het |
| Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
| Sdf2 |
C |
T |
11: 78,141,863 (GRCm39) |
T66I |
probably damaging |
Het |
| Specc1 |
T |
C |
11: 62,009,356 (GRCm39) |
S371P |
probably damaging |
Het |
| Suco |
T |
C |
1: 161,674,799 (GRCm39) |
E416G |
probably damaging |
Het |
| Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
| Tars3 |
C |
T |
7: 65,332,567 (GRCm39) |
T556M |
probably damaging |
Het |
| Tcirg1 |
C |
T |
19: 3,949,069 (GRCm39) |
D407N |
probably damaging |
Het |
| Tefm |
G |
T |
11: 80,031,156 (GRCm39) |
L27I |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,918,225 (GRCm39) |
I1845T |
probably benign |
Het |
| Tfam |
A |
T |
10: 71,069,233 (GRCm39) |
I119N |
probably damaging |
Het |
| Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,804,889 (GRCm39) |
I947T |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,611,202 (GRCm39) |
T1205A |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,805,496 (GRCm39) |
R454G |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,217,781 (GRCm39) |
V477A |
probably benign |
Het |
|
| Other mutations in Git2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
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'- ATCTGTCCTGCTTTGGAGGC -3'
(R):5'- AGCCTGAAGCCATTGTAAACAG -3'
Sequencing Primer
(F):5'- AGTGGAGTGCTTCCTTTTTCCTAAG -3'
(R):5'- CTGAAGCCATTGTAAACAGCAAAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation