Mutagenetix > Incidental Mutation

Incidental Mutation 'R1801:Gpatch2'

203106

Institutional Source

Beutler Lab

Gene Symbol

Gpatch2

Ensembl Gene

ENSMUSG00000039210

Gene Name

G patch domain containing 2

Synonyms

5830433G22Rik, Gpatc2, 5830436K05Rik

MMRRC Submission

039831-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R1801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

187215508-187351704 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 187225831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 128 (S128T)

Ref Sequence

ENSEMBL: ENSMUSP00000137858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044812] [ENSMUST00000065573] [ENSMUST00000110943] [ENSMUST00000159748] [ENSMUST00000160471] [ENSMUST00000160481] [ENSMUST00000160570]

AlphaFold

Q7TQC7

Predicted Effect

probably benign
Transcript: ENSMUST00000044812
AA Change: S128T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048979
Gene: ENSMUSG00000039210
AA Change: S128T

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
low complexity region	107	118	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
low complexity region	205	214	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000065573
AA Change: S128T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065009
Gene: ENSMUSG00000039210
AA Change: S128T

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
low complexity region	107	118	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
low complexity region	205	214	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC
G_patch	464	510	3.95e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097443

SMART Domains

Protein: ENSMUSP00000095052
Gene: ENSMUSG00000039210

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
low complexity region	107	118	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
low complexity region	205	214	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110943
AA Change: S128T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106568
Gene: ENSMUSG00000039210
AA Change: S128T

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
low complexity region	107	118	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
low complexity region	205	214	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC
G_patch	427	473	3.95e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159748
AA Change: S128T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000137858
Gene: ENSMUSG00000039210
AA Change: S128T

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
low complexity region	107	118	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
low complexity region	205	214	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160471
AA Change: S105T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124407
Gene: ENSMUSG00000039210
AA Change: S105T

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
low complexity region	84	95	N/A	INTRINSIC
low complexity region	132	142	N/A	INTRINSIC
low complexity region	182	191	N/A	INTRINSIC
low complexity region	227	242	N/A	INTRINSIC
G_patch	441	487	3.95e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160481
AA Change: S128T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000137801
Gene: ENSMUSG00000039210
AA Change: S128T

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC
low complexity region	107	118	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
low complexity region	205	214	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160570

SMART Domains

Protein: ENSMUSP00000125750
Gene: ENSMUSG00000039210

Domain	Start	End	E-Value	Type
G_patch	133	179	3.95e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161260

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 79,067,396	E362G	probably damaging	Het
Abcc5	T	C	16: 20,338,887	M1307V	probably benign	Het
Adamts9	A	G	6: 92,863,376	V1142A	probably benign	Het
Ano10	T	C	9: 122,253,030	N525S	probably damaging	Het
Bpifa2	T	C	2: 154,011,504		probably null	Het
C7	C	T	15: 5,012,021	V468I	possibly damaging	Het
Carf	A	T	1: 60,141,505	H362L	possibly damaging	Het
Ccdc171	A	C	4: 83,546,895	I37L	probably benign	Het
Ccdc182	T	C	11: 88,294,190	L32P	possibly damaging	Het
Celsr3	A	T	9: 108,834,626	D1678V	possibly damaging	Het
Col7a1	A	T	9: 108,960,997	Y920F	unknown	Het
Cpsf3	T	C	12: 21,313,790	V627A	probably benign	Het
D7Ertd443e	A	G	7: 134,270,212	M640T	probably damaging	Het
Ddi2	T	C	4: 141,683,972	D543G	probably damaging	Het
Dnah9	T	C	11: 65,955,297	N2972D	probably damaging	Het
Dnajc18	T	C	18: 35,680,804	D304G	probably damaging	Het
Epg5	T	C	18: 77,983,490	V1232A	possibly damaging	Het
Ezr	T	C	17: 6,742,372	T358A	possibly damaging	Het
Filip1	A	G	9: 79,815,846	S1164P	probably damaging	Het
Gm14085	C	T	2: 122,521,652	R324C	possibly damaging	Het
Gm5346	A	T	8: 43,625,917	C423*	probably null	Het
Gmip	T	C	8: 69,814,477	V341A	probably benign	Het
Gnb3	A	C	6: 124,835,636	F286V	probably benign	Het
Gpr87	T	C	3: 59,179,392	R231G	possibly damaging	Het
Hip1r	G	A	5: 123,998,808	R613Q	probably benign	Het
Hsd3b7	T	C	7: 127,803,034	Y284H	possibly damaging	Het
Il1rap	A	T	16: 26,698,875	D275V	probably damaging	Het
Il4	G	T	11: 53,618,538	H23Q	possibly damaging	Het
Kit	A	G	5: 75,648,393	Y749C	probably damaging	Het
Klb	A	G	5: 65,349,235	K275R	probably null	Het
Klhl12	G	T	1: 134,489,070	R510L	probably damaging	Het
Lrrc8b	A	G	5: 105,480,823	Y345C	probably damaging	Het
Med15	T	C	16: 17,680,735	T98A	possibly damaging	Het
Mmp1a	T	A	9: 7,475,390	Y387N	probably damaging	Het
Myrf	C	A	19: 10,214,191	V928L	probably benign	Het
Nr1d1	T	C	11: 98,771,499	K134E	probably damaging	Het
Nrxn3	A	T	12: 90,283,582	D305V	probably damaging	Het
Obscn	A	C	11: 58,998,321	S7542A	unknown	Het
Olfr1197	T	A	2: 88,729,264	I112F	probably damaging	Het
Pak4	G	A	7: 28,565,190	R96C	probably damaging	Het
Papd5	T	G	8: 88,250,788	V406G	probably benign	Het
Pde6b	A	T	5: 108,427,847	D691V	possibly damaging	Het
Pdss2	A	G	10: 43,345,605	E171G	probably benign	Het
Pdzd2	C	T	15: 12,387,654	V873I	possibly damaging	Het
Plb1	A	T	5: 32,293,243	D376V	probably damaging	Het
Plekhg1	T	C	10: 3,963,904	Y1209H	probably damaging	Het
Prickle2	A	G	6: 92,416,904	C263R	probably damaging	Het
Psma2	A	T	13: 14,623,605	Y104F	probably benign	Het
Ptger4	T	A	15: 5,242,800	M113L	possibly damaging	Het
Rgs10	T	G	7: 128,404,477	D17A	possibly damaging	Het
Rpap3	A	G	15: 97,694,209	S189P	possibly damaging	Het
Rsbn1	T	C	3: 103,914,872	L102P	probably damaging	Het
Ryr2	T	C	13: 11,595,281	S655G	probably benign	Het
Samd4b	A	T	7: 28,407,331		probably null	Het
Sema4a	C	T	3: 88,436,749	D732N	probably benign	Het
Sh3bp5l	A	G	11: 58,346,351	D378G	probably benign	Het
Sh3gl3	C	T	7: 82,284,119	T230I	possibly damaging	Het
Slc5a1	A	T	5: 33,146,953	Q299L	probably damaging	Het
Ssc5d	C	A	7: 4,936,607	H681N	probably benign	Het
Sugp2	T	C	8: 70,236,710	S10P	possibly damaging	Het
Supt5	A	G	7: 28,317,214		probably null	Het
Syna	A	G	5: 134,560,089	V2A	probably benign	Het
Tcp1	T	A	17: 12,922,202	Y299*	probably null	Het
Tenm3	C	A	8: 48,276,256	V1572L	probably benign	Het
Trp53rka	A	G	2: 165,491,613	S119P	probably damaging	Het
Ubr4	T	A	4: 139,452,563		probably null	Het
Uchl4	T	A	9: 64,235,475	D79E	probably benign	Het
Vmn2r17	C	A	5: 109,428,478	T405K	probably damaging	Het
Xpnpep1	A	G	19: 53,010,133	L228P	probably damaging	Het
Xrcc4	T	G	13: 89,992,579	E170D	probably damaging	Het
Zfp945	T	C	17: 22,851,762	T388A	probably damaging	Het
Zfp947	G	A	17: 22,146,462	A77V	probably benign	Het
Zkscan5	G	A	5: 145,220,205	G433R	probably damaging	Het

Other mutations in Gpatch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01588:Gpatch2	APN	1	187230794	missense	probably damaging	1.00
IGL02324:Gpatch2	APN	1	187225739	missense	probably damaging	1.00
IGL02493:Gpatch2	APN	1	187233128	splice site	probably benign
IGL02583:Gpatch2	APN	1	187233317	splice site	probably null
IGL02583:Gpatch2	APN	1	187233318	splice site	probably null
IGL02632:Gpatch2	APN	1	187225981	missense	probably damaging	1.00
R0100:Gpatch2	UTSW	1	187225817	missense	probably damaging	1.00
R1966:Gpatch2	UTSW	1	187322301	missense	probably damaging	1.00
R3870:Gpatch2	UTSW	1	187322294	missense	probably damaging	1.00
R4028:Gpatch2	UTSW	1	187226140	missense	possibly damaging	0.53
R4471:Gpatch2	UTSW	1	187233140	missense	probably damaging	1.00
R5346:Gpatch2	UTSW	1	187225868	missense	probably benign	0.00
R6338:Gpatch2	UTSW	1	187225514	missense	probably damaging	0.99
R6936:Gpatch2	UTSW	1	187233236	missense	probably benign	0.04
R7185:Gpatch2	UTSW	1	187226197	missense	probably damaging	1.00
R7708:Gpatch2	UTSW	1	187232766	missense	probably benign
R7885:Gpatch2	UTSW	1	187225501	critical splice acceptor site	probably null
R8508:Gpatch2	UTSW	1	187304355	missense	probably benign	0.04
R9236:Gpatch2	UTSW	1	187233780	missense	probably benign	0.06
R9274:Gpatch2	UTSW	1	187230832	missense	probably damaging	1.00
R9647:Gpatch2	UTSW	1	187322345	missense	probably damaging	1.00
Z1177:Gpatch2	UTSW	1	187225691	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCGGAGATCCTACAATGTTC -3'
(R):5'- TAAACTCTGGATACTGGCTGGC -3'

Sequencing Primer
(F):5'- TACAATGTTCACCACCCGTG -3'
(R):5'- CTGGATACTGGCTGGCTCTATC -3'

Posted On

2014-06-23