Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Gpr162'

710482

Institutional Source

Beutler Lab

Gene Symbol

Gpr162

Ensembl Gene

ENSMUSG00000038390

Gene Name

G protein-coupled receptor 162

Synonyms

A-2, Grca

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124858444-124863983 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124861394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 98 (Y98H)

Ref Sequence

ENSEMBL: ENSMUSP00000038536 (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: Y98H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038536
Gene: ENSMUSG00000038390
AA Change: Y98H

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

probably damaging
Transcript: ENSMUST00000204667
AA Change: Y98H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145267
Gene: ENSMUSG00000038390
AA Change: Y98H

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	T	6: 41,033,145	G85D	probably benign	Het
4931440F15Rik	A	G	11: 29,825,107	S117P	probably damaging	Het
Abcb1b	G	A	5: 8,825,614	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,466,070	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,603,523	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,916,823	E828D	probably damaging	Het
Ces1f	A	T	8: 93,269,972		probably null	Het
Cfap53	T	A	18: 74,299,343		probably null	Het
Col6a4	T	C	9: 106,000,784	Y1998C	probably damaging	Het
Col9a2	A	G	4: 121,054,751	T675A	probably benign	Het
Dusp6	G	A	10: 99,263,977	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,185,491	M22R	probably benign	Het
Gm19965	A	G	1: 116,821,836	N416D		Het
Igfals	G	A	17: 24,881,626	V564I	probably benign	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Itgb1	T	A	8: 128,707,156	N50K	probably benign	Het
Itpr3	A	T	17: 27,095,925	Y682F	possibly damaging	Het
Jak3	C	T	8: 71,684,052	P668S	probably damaging	Het
Malrd1	A	T	2: 15,703,156	N932I	unknown	Het
Mast4	C	A	13: 103,333,930	R88L	probably benign	Het
Mfsd11	T	G	11: 116,873,335	S381A	probably benign	Het
Mrm3	A	G	11: 76,250,030	D288G	probably damaging	Het
Myg1	G	T	15: 102,336,937	V198F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Npy6r	T	C	18: 44,275,692	I60T	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr1308	G	T	2: 111,960,527	P182H	probably damaging	Het
Olfr1341	A	T	4: 118,710,156	M250L	probably benign	Het
Olfr177	C	T	16: 58,872,613	C179Y	probably damaging	Het
Olfr530	T	C	7: 140,373,017	T198A	probably benign	Het
Olfr811	G	A	10: 129,801,671	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,986,525		probably benign	Het
Oxtr	C	A	6: 112,489,349	R150L	probably damaging	Het
Pappa	A	T	4: 65,180,888	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,908,079	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,302,300	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,779,315	L81Q	probably damaging	Het
Ptprf	C	A	4: 118,236,039	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,223	N322K	probably damaging	Het
Rev3l	T	A	10: 39,822,971	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,003,012	Y96C	probably damaging	Het
Runx1	C	T	16: 92,613,680	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,645,722	Q125P	probably damaging	Het
Spef2	A	T	15: 9,725,221	M150K	probably damaging	Het
Srcap	T	G	7: 127,542,283	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,355,627	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,229,193	D4427G	possibly damaging	Het
Tg	T	A	15: 66,689,324	M1065K	probably benign	Het
Tgm2	T	C	2: 158,117,896	T656A	probably benign	Het
Ttc37	A	G	13: 76,127,039	D403G	probably benign	Het
Ubr4	A	G	4: 139,425,924	K809E		Het
Vmn1r88	T	C	7: 13,178,619	S301P	probably damaging	Het
Wdr27	A	G	17: 14,891,718	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,465,820	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,997,908	I379N	probably damaging	Het

Other mutations in Gpr162

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01134:Gpr162	APN	6	124858857	splice site	probably null
IGL01879:Gpr162	APN	6	124861241	missense	probably damaging	1.00
IGL01901:Gpr162	APN	6	124861407	missense	possibly damaging	0.95
IGL01930:Gpr162	APN	6	124861612	missense	possibly damaging	0.82
IGL02334:Gpr162	APN	6	124861160	missense	probably damaging	1.00
R1036:Gpr162	UTSW	6	124860860	missense	probably damaging	0.99
R1322:Gpr162	UTSW	6	124858901	missense	probably damaging	0.96
R1351:Gpr162	UTSW	6	124861198	missense	probably damaging	1.00
R1549:Gpr162	UTSW	6	124860088	missense	probably damaging	1.00
R1933:Gpr162	UTSW	6	124861447	missense	probably damaging	0.98
R4214:Gpr162	UTSW	6	124860068	missense	probably damaging	1.00
R4367:Gpr162	UTSW	6	124861695	start gained	probably benign
R4628:Gpr162	UTSW	6	124861442	missense	probably benign	0.03
R5290:Gpr162	UTSW	6	124861269	missense	probably benign	0.17
R5354:Gpr162	UTSW	6	124859637	missense	probably benign	0.06
R5404:Gpr162	UTSW	6	124861643	missense	possibly damaging	0.73
R5465:Gpr162	UTSW	6	124861171	missense	probably damaging	1.00
R5520:Gpr162	UTSW	6	124860913	missense	probably damaging	1.00
R5566:Gpr162	UTSW	6	124860938	nonsense	probably null
R6184:Gpr162	UTSW	6	124861241	missense	probably damaging	1.00
R6450:Gpr162	UTSW	6	124861189	missense	possibly damaging	0.84
R6685:Gpr162	UTSW	6	124861531	missense	probably damaging	1.00
R6807:Gpr162	UTSW	6	124861201	missense	probably damaging	0.97
R6972:Gpr162	UTSW	6	124861309	missense	probably damaging	0.99
R6982:Gpr162	UTSW	6	124860956	missense	probably damaging	1.00
R7543:Gpr162	UTSW	6	124861392	nonsense	probably null
R7650:Gpr162	UTSW	6	124861843	start gained	probably benign
R8974:Gpr162	UTSW	6	124860913	missense	probably damaging	1.00
R9096:Gpr162	UTSW	6	124859607	missense	probably benign	0.11
R9097:Gpr162	UTSW	6	124859607	missense	probably benign	0.11
R9233:Gpr162	UTSW	6	124859051	missense	possibly damaging	0.68
R9356:Gpr162	UTSW	6	124861334	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ACTATGAACTGGCAGCCTCG -3'
(R):5'- GATCATCCTTAGCATCTCAGCC -3'

Sequencing Primer
(F):5'- ATAGTAGCGCTCCCCGTTG -3'
(R):5'- TCCTTAGCATCTCAGCCAAACAG -3'

Posted On

2022-04-18