Mutagenetix > Incidental Mutation

Incidental Mutation 'R5431:Gpr152'

428076

Institutional Source

Beutler Lab

Gene Symbol

Gpr152

Ensembl Gene

ENSMUSG00000044724

Gene Name

G protein-coupled receptor 152

Synonyms

A930009H15Rik, LOC269053

MMRRC Submission

042847-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5431 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4139799-4145738 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4143747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 429 (V429D)

Ref Sequence

ENSEMBL: ENSMUSP00000094062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008893] [ENSMUST00000025761] [ENSMUST00000096338] [ENSMUST00000123874]

AlphaFold

Q8BXS7

Predicted Effect

probably benign
Transcript: ENSMUST00000008893

SMART Domains

Protein: ENSMUSP00000008893
Gene: ENSMUSG00000024835

Domain	Start	End	E-Value	Type
DUF1899	5	69	1.48e-37	SMART
WD40	68	111	2.1e-7	SMART
WD40	121	161	1.44e-5	SMART
WD40	164	204	4.08e-5	SMART
DUF1900	258	392	6.41e-88	SMART
coiled coil region	445	482	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025761

SMART Domains

Protein: ENSMUSP00000025761
Gene: ENSMUSG00000024842

Domain	Start	End	E-Value	Type
low complexity region	45	67	N/A	INTRINSIC
low complexity region	79	97	N/A	INTRINSIC
EFh	129	157	1.08e-6	SMART
Blast:EFh	165	193	2e-7	BLAST
EFh	206	234	1.05e-4	SMART
EFh	243	271	1.55e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096338
AA Change: V429D

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000094062
Gene: ENSMUSG00000044724
AA Change: V429D

Domain	Start	End	E-Value	Type
Pfam:7tm_1	47	295	7e-19	PFAM
low complexity region	347	361	N/A	INTRINSIC
low complexity region	419	433	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123874

SMART Domains

Protein: ENSMUSP00000118450
Gene: ENSMUSG00000024835

Domain	Start	End	E-Value	Type
DUF1899	5	69	1.48e-37	SMART
WD40	68	111	2.1e-7	SMART
WD40	121	161	1.44e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148733

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,707,538	S124G	possibly damaging	Het
4921539E11Rik	T	C	4: 103,270,848	T27A	probably benign	Het
Aspg	T	A	12: 112,123,412	N461K	probably benign	Het
B4galnt3	T	A	6: 120,218,967	T300S	probably damaging	Het
BC035044	A	G	6: 128,885,007		probably benign	Het
Bmp5	C	T	9: 75,893,709	P374S	probably damaging	Het
C330018D20Rik	A	T	18: 56,957,856	F78L	probably benign	Het
Cds2	T	A	2: 132,302,170	S289T	probably benign	Het
Cerkl	C	T	2: 79,341,335	C393Y	probably damaging	Het
Ciita	C	T	16: 10,523,792	R1020C	probably damaging	Het
Dcaf13	C	A	15: 39,123,224	D130E	probably benign	Het
Dnal4	C	T	15: 79,762,447	G50R	probably damaging	Het
Elfn1	A	G	5: 139,971,568	N109S	probably damaging	Het
Ep400	A	G	5: 110,676,554	V2435A	unknown	Het
Fam178b	T	C	1: 36,632,485	E185G	probably damaging	Het
Fam227b	C	A	2: 126,126,931	L74F	probably benign	Het
Fam92b	C	A	8: 120,167,303		probably null	Het
Fgfr4	G	A	13: 55,156,651	V138I	probably benign	Het
Flnc	A	G	6: 29,456,384	I2161V	possibly damaging	Het
Frmd5	T	C	2: 121,562,909	N235S	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Ggt6	A	G	11: 72,437,738	T355A	possibly damaging	Het
Gm14393	G	A	2: 175,063,876	T41I	probably damaging	Het
Gpr151	A	C	18: 42,578,867	S249A	probably damaging	Het
Grm7	G	A	6: 111,358,426	M599I	probably benign	Het
Hdac4	T	A	1: 91,972,790	R54*	probably null	Het
Ice1	A	G	13: 70,592,650	L2146S	probably damaging	Het
Igfbpl1	C	T	4: 45,815,588	V183I	probably benign	Het
Kel	G	A	6: 41,698,420	S299F	probably benign	Het
Kif14	T	C	1: 136,496,695	I1016T	possibly damaging	Het
Lhx3	T	C	2: 26,201,118	D395G	probably damaging	Het
Micu1	T	C	10: 59,750,521	Y140H	possibly damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nbn	C	T	4: 15,986,593	H665Y	probably benign	Het
Pkhd1	G	T	1: 20,117,836	T3416K	probably benign	Het
Plxnb1	T	C	9: 109,100,772	F232S	probably damaging	Het
Pus7l	T	C	15: 94,529,486	N472D	probably damaging	Het
Rfx1	C	T	8: 84,082,720	Q225*	probably null	Het
Rnase2a	T	C	14: 51,255,563	Y115C	possibly damaging	Het
Ryr1	T	A	7: 29,109,812	D386V	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Homo
Sgcz	T	A	8: 37,639,984	T125S	probably damaging	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Syt2	A	G	1: 134,740,957	S36G	probably benign	Het
Tcaf3	A	G	6: 42,597,185	L31P	probably damaging	Het
Tenm3	C	A	8: 48,367,377	E142*	probably null	Het
Tgfbr2	G	T	9: 116,131,601	S94R	probably damaging	Het
Vmn2r12	A	G	5: 109,091,818	I293T	probably damaging	Het
Wrap73	G	A	4: 154,145,274	R34Q	probably damaging	Het
Zc3h14	A	G	12: 98,780,065	D511G	possibly damaging	Het
Zcchc11	T	A	4: 108,491,412	I297N	probably damaging	Het

Other mutations in Gpr152

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Gpr152	APN	19	4143507	missense	probably benign
IGL01400:Gpr152	APN	19	4143627	missense	probably benign	0.33
IGL01538:Gpr152	APN	19	4142952	missense	probably damaging	1.00
IGL02288:Gpr152	APN	19	4143695	missense	probably benign
IGL02513:Gpr152	APN	19	4142844	missense	probably damaging	1.00
IGL03335:Gpr152	APN	19	4143771	missense	possibly damaging	0.69
R0318:Gpr152	UTSW	19	4143542	missense	possibly damaging	0.73
R1216:Gpr152	UTSW	19	4143555	missense	possibly damaging	0.86
R1936:Gpr152	UTSW	19	4142532	missense	probably damaging	1.00
R2248:Gpr152	UTSW	19	4143806	missense	probably benign	0.00
R3161:Gpr152	UTSW	19	4142714	missense	probably benign	0.00
R4193:Gpr152	UTSW	19	4142907	missense	probably damaging	1.00
R4719:Gpr152	UTSW	19	4143224	missense	possibly damaging	0.92
R4852:Gpr152	UTSW	19	4143791	missense	probably benign	0.00
R5014:Gpr152	UTSW	19	4143507	missense	probably benign	0.00
R5381:Gpr152	UTSW	19	4142517	missense	probably damaging	1.00
R5470:Gpr152	UTSW	19	4143129	missense	probably damaging	1.00
R7331:Gpr152	UTSW	19	4142609	missense	probably damaging	0.99
R7350:Gpr152	UTSW	19	4142964	missense	possibly damaging	0.89
R7806:Gpr152	UTSW	19	4143488	missense	probably benign
R8315:Gpr152	UTSW	19	4143470	missense	probably damaging	1.00
R8889:Gpr152	UTSW	19	4142724	missense	probably damaging	1.00
R9455:Gpr152	UTSW	19	4143845	missense	probably benign	0.01
R9651:Gpr152	UTSW	19	4142615	missense	probably damaging	1.00
R9709:Gpr152	UTSW	19	4142641	missense	probably benign	0.00
R9761:Gpr152	UTSW	19	4143228	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCAGCTACAGTCAGATTCTG -3'
(R):5'- CAGCTGGTCTGTCTAGGTTCTC -3'

Sequencing Primer
(F):5'- ACAGTCAGATTCTGTGGTCCAGC -3'
(R):5'- TCTAGGTTCTCAGGGGTCCCAG -3'

Posted On

2016-09-01