Mutagenetix > Incidental Mutation

Incidental Mutation 'R1933:Gpr162'

215559

Institutional Source

Beutler Lab

Gene Symbol

Gpr162

Ensembl Gene

ENSMUSG00000038390

Gene Name

G protein-coupled receptor 162

Synonyms

Grca, A-2

MMRRC Submission

039951-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R1933 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124835407-124840900 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124838410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 80 (S80F)

Ref Sequence

ENSEMBL: ENSMUSP00000145267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023958] [ENSMUST00000024044] [ENSMUST00000046893] [ENSMUST00000135127] [ENSMUST00000204667]

AlphaFold

Q3UN16

Predicted Effect

probably benign
Transcript: ENSMUST00000023958

SMART Domains

Protein: ENSMUSP00000023958
Gene: ENSMUSG00000023191

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	58	76	N/A	INTRINSIC
low complexity region	127	142	N/A	INTRINSIC
low complexity region	222	242	N/A	INTRINSIC
low complexity region	256	277	N/A	INTRINSIC
P4Hc	460	670	8.51e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000024044

SMART Domains

Protein: ENSMUSP00000024044
Gene: ENSMUSG00000023274

Domain	Start	End	E-Value	Type
low complexity region	6	21	N/A	INTRINSIC
IGv	37	114	7.02e-8	SMART
IG	131	206	3.63e-1	SMART
IG	212	317	3.36e0	SMART
transmembrane domain	394	416	N/A	INTRINSIC
Pfam:Tcell_CD4_C	425	452	2.2e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000046893
AA Change: S80F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038536
Gene: ENSMUSG00000038390
AA Change: S80F

Domain	Start	End	E-Value	Type
Pfam:7tm_1	30	337	1.1e-19	PFAM
low complexity region	348	362	N/A	INTRINSIC
low complexity region	462	477	N/A	INTRINSIC
low complexity region	482	504	N/A	INTRINSIC
low complexity region	513	540	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135127

SMART Domains

Protein: ENSMUSP00000116338
Gene: ENSMUSG00000023191

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	58	76	N/A	INTRINSIC
low complexity region	127	142	N/A	INTRINSIC
low complexity region	222	242	N/A	INTRINSIC
low complexity region	256	277	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204253

Predicted Effect

probably damaging
Transcript: ENSMUST00000204667
AA Change: S80F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145267
Gene: ENSMUSG00000038390
AA Change: S80F

Domain	Start	End	E-Value	Type
Pfam:7tm_1	30	337	1.1e-19	PFAM
low complexity region	348	362	N/A	INTRINSIC
low complexity region	462	477	N/A	INTRINSIC
low complexity region	482	504	N/A	INTRINSIC
low complexity region	513	540	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified upon genomic analysis of a gene-dense region at human chromosome 12p13. It appears to be mainly expressed in the brain; however, its function is not known. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 41,207,922 (GRCm39)	Y396F	probably benign	Het
Adra2a	T	A	19: 54,034,837 (GRCm39)	F64L	probably damaging	Het
Ankrd45	A	T	1: 160,978,870 (GRCm39)	N103I	probably damaging	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Bsn	A	G	9: 107,993,643 (GRCm39)	V703A	possibly damaging	Het
Btaf1	T	A	19: 36,950,357 (GRCm39)	I529K	probably damaging	Het
Ccdc110	A	G	8: 46,396,287 (GRCm39)	N726S	probably damaging	Het
Ccdc78	T	A	17: 26,006,044 (GRCm39)	S71T	probably damaging	Het
Cct5	G	T	15: 31,591,154 (GRCm39)	Q516K	probably benign	Het
Cd300c2	A	T	11: 114,891,685 (GRCm39)	V63E	probably benign	Het
Cdh16	A	G	8: 105,344,595 (GRCm39)	V7A	possibly damaging	Het
Clec16a	T	C	16: 10,506,403 (GRCm39)	F710L	probably damaging	Het
Clpb	T	G	7: 101,428,418 (GRCm39)	F393V	probably damaging	Het
Commd9	G	A	2: 101,731,376 (GRCm39)	R187H	probably damaging	Het
Crx	T	A	7: 15,602,301 (GRCm39)	K126*	probably null	Het
Dcaf13	T	A	15: 39,001,483 (GRCm39)	Y264N	probably damaging	Het
Dnah12	T	A	14: 26,455,650 (GRCm39)	I791N	probably damaging	Het
Dpy19l1	A	T	9: 24,345,683 (GRCm39)	D456E	probably damaging	Het
Dscam	A	G	16: 96,394,414 (GRCm39)	S1963P	probably benign	Het
Efl1	C	T	7: 82,412,325 (GRCm39)	Q905*	probably null	Het
Farsa	T	C	8: 85,587,780 (GRCm39)	F104L	probably benign	Het
Fbxl19	C	A	7: 127,350,101 (GRCm39)	A231E	probably benign	Het
Fbxw19	A	T	9: 109,310,718 (GRCm39)	N401K	probably benign	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,926 (GRCm39)		probably benign	Het
Frem3	A	G	8: 81,339,519 (GRCm39)	N604S	probably benign	Het
Gad1	T	G	2: 70,417,736 (GRCm39)	C312G	possibly damaging	Het
Garem2	G	T	5: 30,319,860 (GRCm39)	E441*	probably null	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm8206	A	T	14: 6,022,475 (GRCm38)	M8K	probably benign	Het
Grpr	C	A	X: 162,332,137 (GRCm39)	V53L	probably benign	Het
Il21	C	T	3: 37,286,635 (GRCm39)	R27H	probably benign	Het
Il21r	C	T	7: 125,228,153 (GRCm39)	T208I	possibly damaging	Het
Kcnab2	T	C	4: 152,520,323 (GRCm39)	T6A	possibly damaging	Het
Klra4	T	A	6: 130,042,207 (GRCm39)	Q20L	possibly damaging	Het
Lrrtm1	A	T	6: 77,221,949 (GRCm39)		probably null	Het
Lrrtm3	A	G	10: 63,924,292 (GRCm39)	F292L	possibly damaging	Het
Mpeg1	A	T	19: 12,440,011 (GRCm39)	K490*	probably null	Het
Myh14	C	T	7: 44,264,772 (GRCm39)	M1671I	probably benign	Het
Nebl	A	T	2: 17,380,103 (GRCm39)	M757K	probably damaging	Het
Or51m1	G	T	7: 103,578,337 (GRCm39)	M102I	probably damaging	Het
Or56b1b	A	C	7: 108,164,730 (GRCm39)	F91V	possibly damaging	Het
Or5aq1	T	A	2: 86,966,188 (GRCm39)	H159L	probably damaging	Het
Pkhd1l1	A	T	15: 44,404,280 (GRCm39)	H2303L	possibly damaging	Het
Podxl2	C	T	6: 88,826,587 (GRCm39)	V240M	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prss53	T	C	7: 127,485,434 (GRCm39)	*553W	probably null	Het
Psma3	T	A	12: 71,031,468 (GRCm39)	M43K	probably benign	Het
Rad50	G	T	11: 53,570,888 (GRCm39)	T790K	probably benign	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Rpn1	T	A	6: 88,070,841 (GRCm39)	V237E	probably damaging	Het
Scn10a	T	A	9: 119,439,064 (GRCm39)	M1601L	probably damaging	Het
Sema4f	G	T	6: 82,907,908 (GRCm39)	P180Q	probably damaging	Het
Serpinb5	A	G	1: 106,803,851 (GRCm39)	E8G	probably damaging	Het
Sgcg	C	T	14: 61,469,861 (GRCm39)	V167I	possibly damaging	Het
Slc25a13	C	T	6: 6,109,262 (GRCm39)	V367M	probably damaging	Het
Spata31	T	C	13: 65,068,424 (GRCm39)	S191P	probably benign	Het
Srbd1	A	G	17: 86,410,321 (GRCm39)	V537A	probably damaging	Het
Srgap1	G	T	10: 121,761,808 (GRCm39)	D113E	possibly damaging	Het
Srl	A	G	16: 4,310,214 (GRCm39)	I505T	probably damaging	Het
St14	G	A	9: 31,017,508 (GRCm39)	T226I	probably benign	Het
Stard9	T	A	2: 120,529,137 (GRCm39)	I1798N	possibly damaging	Het
Sugp1	A	G	8: 70,509,225 (GRCm39)	E166G	possibly damaging	Het
Susd1	A	T	4: 59,351,695 (GRCm39)	N455K	possibly damaging	Het
Sytl3	T	A	17: 7,000,445 (GRCm39)	V205E	probably damaging	Het
Tenm4	A	G	7: 96,544,533 (GRCm39)	Y2183C	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tlcd3b	T	A	7: 126,426,844 (GRCm39)		probably null	Het
Tlr1	T	G	5: 65,082,781 (GRCm39)	T599P	possibly damaging	Het
Trpc6	G	A	9: 8,656,546 (GRCm39)	D658N	probably damaging	Het
Ttc39b	A	G	4: 83,150,957 (GRCm39)	V546A	possibly damaging	Het
Ube3c	T	C	5: 29,824,657 (GRCm39)	Y561H	probably damaging	Het
Vmn1r29	T	A	6: 58,284,405 (GRCm39)	S42T	probably benign	Het
Vps4a	T	C	8: 107,771,190 (GRCm39)	V392A	probably benign	Het
Wdfy4	T	C	14: 32,855,301 (GRCm39)	E771G	probably benign	Het
Whrn	G	A	4: 63,333,876 (GRCm39)	Q415*	probably null	Het
Wnt5a	C	T	14: 28,233,802 (GRCm39)	P10L	probably benign	Het
Zfhx2	T	C	14: 55,312,695 (GRCm39)		probably benign	Het
Zfp451	T	C	1: 33,816,903 (GRCm39)	K132R	probably damaging	Het

Other mutations in Gpr162

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01134:Gpr162	APN	6	124,835,820 (GRCm39)	splice site	probably null
IGL01879:Gpr162	APN	6	124,838,204 (GRCm39)	missense	probably damaging	1.00
IGL01901:Gpr162	APN	6	124,838,370 (GRCm39)	missense	possibly damaging	0.95
IGL01930:Gpr162	APN	6	124,838,575 (GRCm39)	missense	possibly damaging	0.82
IGL02334:Gpr162	APN	6	124,838,123 (GRCm39)	missense	probably damaging	1.00
R1036:Gpr162	UTSW	6	124,837,823 (GRCm39)	missense	probably damaging	0.99
R1322:Gpr162	UTSW	6	124,835,864 (GRCm39)	missense	probably damaging	0.96
R1351:Gpr162	UTSW	6	124,838,161 (GRCm39)	missense	probably damaging	1.00
R1549:Gpr162	UTSW	6	124,837,051 (GRCm39)	missense	probably damaging	1.00
R4214:Gpr162	UTSW	6	124,837,031 (GRCm39)	missense	probably damaging	1.00
R4367:Gpr162	UTSW	6	124,838,658 (GRCm39)	start gained	probably benign
R4628:Gpr162	UTSW	6	124,838,405 (GRCm39)	missense	probably benign	0.03
R5290:Gpr162	UTSW	6	124,838,232 (GRCm39)	missense	probably benign	0.17
R5354:Gpr162	UTSW	6	124,836,600 (GRCm39)	missense	probably benign	0.06
R5404:Gpr162	UTSW	6	124,838,606 (GRCm39)	missense	possibly damaging	0.73
R5465:Gpr162	UTSW	6	124,838,134 (GRCm39)	missense	probably damaging	1.00
R5520:Gpr162	UTSW	6	124,837,876 (GRCm39)	missense	probably damaging	1.00
R5566:Gpr162	UTSW	6	124,837,901 (GRCm39)	nonsense	probably null
R6184:Gpr162	UTSW	6	124,838,204 (GRCm39)	missense	probably damaging	1.00
R6450:Gpr162	UTSW	6	124,838,152 (GRCm39)	missense	possibly damaging	0.84
R6685:Gpr162	UTSW	6	124,838,494 (GRCm39)	missense	probably damaging	1.00
R6807:Gpr162	UTSW	6	124,838,164 (GRCm39)	missense	probably damaging	0.97
R6972:Gpr162	UTSW	6	124,838,272 (GRCm39)	missense	probably damaging	0.99
R6982:Gpr162	UTSW	6	124,837,919 (GRCm39)	missense	probably damaging	1.00
R7543:Gpr162	UTSW	6	124,838,355 (GRCm39)	nonsense	probably null
R7650:Gpr162	UTSW	6	124,838,806 (GRCm39)	start gained	probably benign
R8974:Gpr162	UTSW	6	124,837,876 (GRCm39)	missense	probably damaging	1.00
R9096:Gpr162	UTSW	6	124,836,570 (GRCm39)	missense	probably benign	0.11
R9097:Gpr162	UTSW	6	124,836,570 (GRCm39)	missense	probably benign	0.11
R9233:Gpr162	UTSW	6	124,836,014 (GRCm39)	missense	possibly damaging	0.68
R9356:Gpr162	UTSW	6	124,838,297 (GRCm39)	missense	possibly damaging	0.71
R9389:Gpr162	UTSW	6	124,838,357 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGAAGCTGACCATCCAGATGC -3'
(R):5'- GCTCAAACGCATTGTCCTGG -3'

Sequencing Primer
(F):5'- ATCCAGATGCCCATGACGG -3'
(R):5'- CATTGTCCTGGCTGGCCTG -3'

Posted On

2014-07-14