Mutagenetix > Incidental Mutations

Incidental Mutation 'R5404:Gpr162'

428624

Institutional Source

Beutler Lab

Gene Symbol

Gpr162

Ensembl Gene

ENSMUSG00000038390

Gene Name

G protein-coupled receptor 162

Synonyms

A-2, Grca

MMRRC Submission

042975-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R5404 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124858444-124863983 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124861643 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 15 (S15P)

Ref Sequence

ENSEMBL: ENSMUSP00000145267 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000046893
AA Change: S15P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038536
Gene: ENSMUSG00000038390
AA Change: S15P

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: ENSMUST00000145977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204253

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204667
AA Change: S15P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000145267
Gene: ENSMUSG00000038390
AA Change: S15P

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,919,696	H297R	probably benign	Het
Ccnk	A	T	12: 108,195,623	K262N	possibly damaging	Het
Clec4b2	A	T	6: 123,181,349	Y58F	probably benign	Het
Cp	A	C	3: 19,989,128	T1027P	possibly damaging	Het
Cpox	G	A	16: 58,675,286	G322D	probably damaging	Het
Cry1	T	C	10: 85,184,419	N18S	probably damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dock10	A	G	1: 80,503,913		probably benign	Het
Fance	A	T	17: 28,318,060	R58W	probably null	Het
Fermt1	T	C	2: 132,934,869	D233G	possibly damaging	Het
Gabpa	T	A	16: 84,860,463	Y409N	probably damaging	Het
Grid2	T	A	6: 63,930,910	I178N	probably damaging	Het
Il17re	T	C	6: 113,469,102	V233A	probably benign	Het
Lemd3	G	A	10: 120,931,958	Q672*	probably null	Het
Myh15	A	G	16: 49,159,978	T1488A	probably benign	Het
Narf	T	A	11: 121,242,626	H84Q	probably benign	Het
Nedd1	C	T	10: 92,716,192	V69I	probably benign	Het
Nfil3	G	A	13: 52,968,055	S271F	probably damaging	Het
Npc1	A	G	18: 12,213,299	L280P	possibly damaging	Het
Olfr1181	C	T	2: 88,423,801	V75M	probably damaging	Het
Olfr138	T	A	17: 38,275,626	L285*	probably null	Het
Olfr559	T	A	7: 102,723,600	I297F	possibly damaging	Het
Poli	A	G	18: 70,509,432	S503P	probably benign	Het
Rbm5	T	C	9: 107,765,553	E94G	probably damaging	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Rps6ka5	T	C	12: 100,616,093	I173M	probably damaging	Het
Slc40a1	A	G	1: 45,912,328	L223P	probably damaging	Het
Smg1	T	C	7: 118,206,908	K213E	probably damaging	Het
Spem1	T	A	11: 69,820,937	K300N	probably damaging	Het
Tchh	A	G	3: 93,447,675	E1474G	unknown	Het
Tenm4	A	T	7: 96,894,680	R1968W	probably damaging	Het
Tshz2	A	T	2: 169,884,320	M279L	probably benign	Het
Tuba3a	G	T	6: 125,281,592	T145K	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ATAGTCAGAGGAAGCCTGGC -3'
(R):5'- CATGCAATGCTGAGAAGTAAGC -3'

Sequencing Primer
(F):5'- AGTAACTCCAGTGGCTTG -3'
(R):5'- CAAGACTTGGGGTCAGCTTGC -3'

Posted On

2016-09-06