Mutagenetix > Incidental Mutations

Incidental Mutation 'R7658:Git2'

591337

Institutional Source

Beutler Lab

Gene Symbol

Git2

Ensembl Gene

ENSMUSG00000041890

Gene Name

G protein-coupled receptor kinase-interactor 2

Synonyms

5830420E16Rik, Cool associated tyrosine phosphorylated-2, ARF GTPase activating protein 2, 9630056M03Rik, B230104M05Rik, 1500036H07Rik, Cat-2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R7658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114727407-114775517 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114766489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 123 (R123H)

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: R123H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039718
Gene: ENSMUSG00000041890
AA Change: R123H

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

probably damaging
Transcript: ENSMUST00000086564
AA Change: R123H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083754
Gene: ENSMUSG00000041890
AA Change: R123H

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

probably damaging
Transcript: ENSMUST00000112183
AA Change: R123H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107801
Gene: ENSMUSG00000041890
AA Change: R123H

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: R123H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107803
Gene: ENSMUSG00000041890
AA Change: R123H

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: R118H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116722
Gene: ENSMUSG00000041890
AA Change: R118H

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

probably damaging
Transcript: ENSMUST00000131993
AA Change: R12H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118812
Gene: ENSMUSG00000041890
AA Change: R12H

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

SMART Domains

Protein: ENSMUSP00000122302
Gene: ENSMUSG00000041890
AA Change: R123H

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

probably damaging
Transcript: ENSMUST00000178440
AA Change: R123H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136796
Gene: ENSMUSG00000041890
AA Change: R123H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	G	T	16: 89,063,730	S72Y	unknown	Het
6430531B16Rik	T	C	7: 139,976,618	N152S	probably benign	Het
Abca8b	T	A	11: 109,935,717	K1568N	probably benign	Het
Adcy6	T	A	15: 98,596,067	Y865F	probably benign	Het
Adgrf3	A	T	5: 30,197,206	V608D	probably benign	Het
Agbl1	G	T	7: 76,766,369	A965S	unknown	Het
Agbl3	C	T	6: 34,832,508	P690L	probably benign	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Amt	A	C	9: 108,297,231	H65P	probably damaging	Het
Ankrd11	T	A	8: 122,893,664	T1150S	probably benign	Het
Arhgap15	A	C	2: 44,142,268	H288P	probably benign	Het
Arhgap39	A	T	15: 76,737,417	M328K	probably benign	Het
Arhgef12	T	C	9: 42,992,536	K743R	probably damaging	Het
Atg2a	T	G	19: 6,251,263	V789G	probably damaging	Het
Ccdc54	T	C	16: 50,590,481	T141A	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cdh5	T	C	8: 104,129,401		probably null	Het
Cdkl3	T	C	11: 52,027,182	V404A	not run	Het
Chrm2	A	T	6: 36,523,249	I14F	probably benign	Het
Cnbp	T	C	6: 87,845,276	K89E	possibly damaging	Het
Cntn6	T	A	6: 104,650,483	D92E	probably benign	Het
Col15a1	T	C	4: 47,245,591	F114S	possibly damaging	Het
Csrnp1	A	G	9: 119,972,403	F530S	probably benign	Het
Dcun1d3	C	T	7: 119,857,668	V274M	probably damaging	Het
Dph2	T	A	4: 117,890,281	H302L	possibly damaging	Het
Fam162a	A	T	16: 36,046,400	Y118*	probably null	Het
Fam186a	A	G	15: 99,939,844	Y2840H	unknown	Het
Fto	A	G	8: 91,666,322	K466E	probably benign	Het
Gal	T	A	19: 3,413,309	Y41F	probably damaging	Het
Gigyf2	A	T	1: 87,419,138	L620F	unknown	Het
Glud1	A	T	14: 34,311,157	E87V	probably benign	Het
Gm21190	T	G	5: 15,527,925	E94A	possibly damaging	Het
Gm5592	T	C	7: 41,288,710	V472A	probably benign	Het
Gpc5	T	A	14: 115,428,208	N481K	possibly damaging	Het
Gpn2	A	G	4: 133,591,376	E304G	probably benign	Het
Gsdmc2	T	C	15: 63,825,054	T423A	probably damaging	Het
Gucy2e	G	A	11: 69,226,229	Q789*	probably null	Het
Gxylt2	T	A	6: 100,783,143	V213E	probably damaging	Het
Ighv1-75	G	A	12: 115,834,111	L64F	possibly damaging	Het
Il17re	T	C	6: 113,458,982	C30R	probably benign	Het
Il7	G	T	3: 7,604,082	D31E	probably benign	Het
Ints4	T	C	7: 97,529,253	Y687H	possibly damaging	Het
Kdelr1	T	G	7: 45,882,977	V202G	probably benign	Het
Khnyn	C	A	14: 55,887,139	Y283*	probably null	Het
Klf11	T	C	12: 24,653,671	V52A	probably damaging	Het
Klhl7	A	G	5: 24,141,286	N310S	probably benign	Het
Krt27	A	T	11: 99,349,486	L202Q	possibly damaging	Het
Lce1d	A	G	3: 92,686,047	C20R	unknown	Het
Lim2	A	T	7: 43,433,630	I80F	possibly damaging	Het
Lrrk2	T	A	15: 91,700,358	F326Y	possibly damaging	Het
Lyst	A	T	13: 13,730,476	Y3246F	possibly damaging	Het
Mafb	T	A	2: 160,366,435	H81L	possibly damaging	Het
Mfsd5	G	A	15: 102,280,877	R228H	probably benign	Het
Mmp1b	A	T	9: 7,386,675	F150I	possibly damaging	Het
Mthfd1	T	A	12: 76,270,435	L20Q	probably damaging	Het
Mxra8	A	G	4: 155,842,963	T402A	probably benign	Het
Ndc80	A	T	17: 71,508,663	L376M	probably damaging	Het
Nsd1	A	T	13: 55,277,639	R1536S	probably damaging	Het
Nup210l	C	A	3: 90,211,993	H1874Q	probably benign	Het
Nyap1	T	C	5: 137,732,974	H776R	probably benign	Het
Patj	C	A	4: 98,688,179	H1773Q	probably damaging	Het
Pax8	T	A	2: 24,436,511	T280S	probably benign	Het
Pcdhb19	A	G	18: 37,498,981	T610A	probably damaging	Het
Pde2a	A	G	7: 101,511,581	D919G	possibly damaging	Het
Pdk2	T	A	11: 95,028,965	Y240F	probably damaging	Het
Peg3	A	T	7: 6,709,610	I871N	probably damaging	Het
Pex1	A	T	5: 3,596,244		probably benign	Het
Pgm2l1	C	T	7: 100,250,328	R50W	probably damaging	Het
Phkg1	T	A	5: 129,865,923	K262N	probably damaging	Het
Pik3r4	A	G	9: 105,644,511	E92G	probably damaging	Het
Prmt6	A	T	3: 110,250,385	V196E	possibly damaging	Het
Ptprn2	T	G	12: 116,722,119	M66R	probably benign	Het
Rai14	C	T	15: 10,593,103	G152R	probably damaging	Het
Recql5	A	T	11: 115,923,276	S348T	probably damaging	Het
Rfk	T	G	19: 17,398,682		probably null	Het
Selenbp1	A	T	3: 94,944,102	M389L	probably benign	Het
Sipa1l2	G	A	8: 125,492,290	R103C	probably benign	Het
Slc10a6	T	A	5: 103,629,190	S15C	probably damaging	Het
Slc12a2	G	T	18: 57,932,524	V944L	probably benign	Het
Slc16a11	T	A	11: 70,215,317	L127Q	possibly damaging	Het
St6gal1	A	G	16: 23,356,228	Y272C	probably damaging	Het
Stab2	C	A	10: 86,981,135	V133F	probably benign	Het
Stradb	G	A	1: 58,992,726	V266I	probably damaging	Het
Tmem150b	A	G	7: 4,720,759	W140R	probably benign	Het
Tnnt3	A	T	7: 142,512,096	K157*	probably null	Het
Trove2	T	C	1: 143,770,873	T45A	probably damaging	Het
Ttn	T	G	2: 76,723,769	K30863N	probably damaging	Het
Vldlr	G	A	19: 27,243,136	R592H	probably benign	Het
Vmn1r12	A	T	6: 57,158,898		probably benign	Het
Vmn2r63	A	C	7: 42,925,269	S519R	probably damaging	Het
Zbtb22	G	C	17: 33,918,497	E539Q	probably damaging	Het
Zbtb44	G	A	9: 31,054,079	A262T	probably benign	Het
Zfp280d	A	T	9: 72,324,072	N455I	probably damaging	Het
Zfp287	T	C	11: 62,725,263	N201D	probably damaging	Het
Zfp988	T	C	4: 147,332,294	L395P	probably damaging	Het

Other mutations in Git2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01669:Git2	APN	5	114767105	missense	probably damaging	1.00
IGL02538:Git2	APN	5	114730986	splice site	probably benign
IGL03114:Git2	APN	5	114733857	splice site	probably benign
IGL03278:Git2	APN	5	114745579	splice site	probably benign
IGL03278:Git2	APN	5	114745580	splice site	probably null
ponto	UTSW	5	114739101	missense	probably damaging	1.00
vecchio	UTSW	5	114769698	nonsense	probably null
R0184:Git2	UTSW	5	114739037	missense	possibly damaging	0.47
R0241:Git2	UTSW	5	114733229	missense	probably damaging	1.00
R0241:Git2	UTSW	5	114733229	missense	probably damaging	1.00
R0540:Git2	UTSW	5	114748274	missense	probably damaging	1.00
R0543:Git2	UTSW	5	114745531	missense	probably damaging	0.97
R0612:Git2	UTSW	5	114752281	missense	probably damaging	1.00
R1144:Git2	UTSW	5	114753314	missense	probably benign	0.27
R1225:Git2	UTSW	5	114733178	splice site	probably benign
R1783:Git2	UTSW	5	114739124	missense	probably damaging	1.00
R1923:Git2	UTSW	5	114739101	missense	probably damaging	1.00
R1956:Git2	UTSW	5	114749337	nonsense	probably null
R1981:Git2	UTSW	5	114749559	splice site	probably benign
R2029:Git2	UTSW	5	114766450	critical splice donor site	probably null
R3150:Git2	UTSW	5	114730349	missense	probably damaging	1.00
R4087:Git2	UTSW	5	114764405	missense	probably damaging	0.99
R4367:Git2	UTSW	5	114764666	missense	probably damaging	1.00
R4400:Git2	UTSW	5	114733909	missense	possibly damaging	0.94
R4702:Git2	UTSW	5	114745482	missense	probably damaging	1.00
R4758:Git2	UTSW	5	114730351	missense	probably damaging	1.00
R4840:Git2	UTSW	5	114745482	missense	probably damaging	1.00
R5236:Git2	UTSW	5	114767172	missense	probably damaging	1.00
R5427:Git2	UTSW	5	114730328	missense	possibly damaging	0.82
R5510:Git2	UTSW	5	114743774	critical splice donor site	probably null
R6014:Git2	UTSW	5	114733877	missense	probably benign	0.32
R6162:Git2	UTSW	5	114761656	missense	probably damaging	0.99
R6195:Git2	UTSW	5	114767114	missense	probably benign	0.27
R6198:Git2	UTSW	5	114745495	nonsense	probably null
R6233:Git2	UTSW	5	114767114	missense	probably benign	0.27
R6277:Git2	UTSW	5	114733247	missense	probably damaging	1.00
R6603:Git2	UTSW	5	114730991	critical splice donor site	probably null
R7141:Git2	UTSW	5	114769698	nonsense	probably null
R7420:Git2	UTSW	5	114730370	missense	probably benign	0.00
R7468:Git2	UTSW	5	114733897	missense	probably damaging	1.00
R7574:Git2	UTSW	5	114766489	missense	probably damaging	1.00
R7575:Git2	UTSW	5	114766489	missense	probably damaging	1.00
R7577:Git2	UTSW	5	114766489	missense	probably damaging	1.00
R7651:Git2	UTSW	5	114733235	missense	probably damaging	1.00
R7893:Git2	UTSW	5	114769676	missense	possibly damaging	0.83
R8067:Git2	UTSW	5	114766518	missense	probably damaging	0.99
R8415:Git2	UTSW	5	114733928	missense	possibly damaging	0.80
R8878:Git2	UTSW	5	114761588	missense	possibly damaging	0.95
R8984:Git2	UTSW	5	114730195	missense	probably damaging	0.99
R9022:Git2	UTSW	5	114769615	critical splice donor site	probably null
R9084:Git2	UTSW	5	114764454	missense	probably damaging	0.99
R9117:Git2	UTSW	5	114749560	critical splice donor site	probably null
R9234:Git2	UTSW	5	114761621	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TCCAGTGTGTCTGAGAGGAG -3'
(R):5'- TTGACTCTGCTGCAGTGGAG -3'

Sequencing Primer
(F):5'- CCAGTGTGTCTGAGAGGAGTGAATG -3'
(R):5'- TTGTTTCCAAACCAGCC -3'

Posted On

2019-11-12