Mutagenetix > Incidental Mutation

Incidental Mutation 'R6807:Gpr162'

533593

Institutional Source

Beutler Lab

Gene Symbol

Gpr162

Ensembl Gene

ENSMUSG00000038390

Gene Name

G protein-coupled receptor 162

Synonyms

Grca, A-2

MMRRC Submission

044920-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R6807 (G1)

Quality Score

188.009

Status

Validated

Chromosome

Chromosomal Location

124835407-124840900 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 124838164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 162 (R162H)

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: R162H

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038536
Gene: ENSMUSG00000038390
AA Change: R162H

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: R162H

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145267
Gene: ENSMUSG00000038390
AA Change: R162H

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

Meta Mutation Damage Score

0.2730

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.9%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,282,356 (GRCm39)	T2158A	probably benign	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Apol7a	T	C	15: 77,277,520 (GRCm39)		probably null	Het
Bicdl1	C	T	5: 115,810,202 (GRCm39)		probably null	Het
Bop1	T	A	15: 76,339,183 (GRCm39)	Q362L	probably damaging	Het
C4b	T	C	17: 34,949,930 (GRCm39)	D1418G	probably benign	Het
Cdh23	A	G	10: 60,214,650 (GRCm39)	V1455A	possibly damaging	Het
Cecr2	T	G	6: 120,711,503 (GRCm39)		probably null	Het
Cer1	T	C	4: 82,801,052 (GRCm39)	S204G	probably benign	Het
Cers3	G	C	7: 66,413,968 (GRCm39)	W15C	probably damaging	Het
Csn1s2a	A	T	5: 87,929,731 (GRCm39)	H110L	probably benign	Het
Dnah10	T	G	5: 124,867,064 (GRCm39)		probably null	Het
Dync2h1	T	C	9: 7,041,718 (GRCm39)	N3315S	probably benign	Het
Dynlrb2	T	C	8: 117,234,299 (GRCm39)	M21T	probably benign	Het
Emilin1	T	A	5: 31,072,871 (GRCm39)	F103I	probably benign	Het
Esrra	T	A	19: 6,889,142 (GRCm39)	M416L	probably benign	Het
Etaa1	C	A	11: 17,902,680 (GRCm39)	V86L	probably benign	Het
Extl3	A	G	14: 65,314,211 (GRCm39)	S324P	probably damaging	Het
Fam90a1a	T	C	8: 22,453,368 (GRCm39)	V241A	probably benign	Het
Fat4	C	A	3: 39,036,589 (GRCm39)	Q3414K	probably benign	Het
Gpr21	T	A	2: 37,407,974 (GRCm39)	Y173*	probably null	Het
Gprc6a	G	A	10: 51,502,841 (GRCm39)	Q341*	probably null	Het
Herc2	T	A	7: 55,814,670 (GRCm39)	S2674R	probably damaging	Het
Hnrnpdl	A	T	5: 100,186,995 (GRCm39)	H9Q	probably null	Het
Hps1	A	G	19: 42,759,217 (GRCm39)	V125A	possibly damaging	Het
Iba57	G	T	11: 59,049,440 (GRCm39)	P243H	probably damaging	Het
Incenp	G	T	19: 9,855,120 (GRCm39)	A597E	unknown	Het
Kat6a	T	A	8: 23,430,384 (GRCm39)	M1913K	unknown	Het
Klb	G	A	5: 65,536,877 (GRCm39)	V736M	probably damaging	Het
Krt33a	T	A	11: 99,903,209 (GRCm39)	T278S	possibly damaging	Het
Krt73	T	G	15: 101,704,842 (GRCm39)	E348A	probably damaging	Het
Lig3	T	A	11: 82,674,577 (GRCm39)	D134E	probably benign	Het
Limd2	T	C	11: 106,049,771 (GRCm39)	T73A	probably benign	Het
Lrpprc	A	G	17: 85,056,531 (GRCm39)	S787P	possibly damaging	Het
Macf1	A	G	4: 123,268,208 (GRCm39)	M6735T	probably damaging	Het
Mapkbp1	C	A	2: 119,851,640 (GRCm39)	Q861K	probably damaging	Het
Mc4r	T	A	18: 66,992,927 (GRCm39)	N62I	probably damaging	Het
Metap1d	G	A	2: 71,341,858 (GRCm39)	V151I	probably damaging	Het
Nek2	T	C	1: 191,554,729 (GRCm39)	V147A	probably damaging	Het
Nlrp1b	A	T	11: 71,108,530 (GRCm39)	W324R	probably damaging	Het
Nol4l	G	T	2: 153,325,746 (GRCm39)	S113*	probably null	Het
Oc90	T	A	15: 65,761,463 (GRCm39)	D185V	probably damaging	Het
Or2a52	T	C	6: 43,144,172 (GRCm39)	F60S	probably damaging	Het
Or2v1	G	A	11: 49,025,805 (GRCm39)	R262K	probably damaging	Het
Or4a71	G	A	2: 89,357,932 (GRCm39)	T274M	probably damaging	Het
Or5m13	A	T	2: 85,748,382 (GRCm39)	T38S	possibly damaging	Het
Or5p51	T	A	7: 107,444,797 (GRCm39)	T48S	possibly damaging	Het
Or8g50	A	T	9: 39,648,914 (GRCm39)	K268*	probably null	Het
Pcdha8	A	G	18: 37,127,401 (GRCm39)	T628A	probably damaging	Het
Pcsk5	A	T	19: 17,549,986 (GRCm39)		probably null	Het
Pdgfrb	T	C	18: 61,211,721 (GRCm39)		probably null	Het
Pgm3	A	T	9: 86,438,555 (GRCm39)		probably null	Het
Pin1rt1	T	A	2: 104,545,063 (GRCm39)	Y23F	probably benign	Het
Poli	T	A	18: 70,663,222 (GRCm39)		probably null	Het
Pom121	C	A	5: 135,409,978 (GRCm39)		probably benign	Het
Ppp2r5c	A	G	12: 110,535,456 (GRCm39)	D407G	possibly damaging	Het
Pramel28	A	G	4: 143,691,581 (GRCm39)	S381P	probably damaging	Het
Rgs12	A	G	5: 35,180,515 (GRCm39)	D116G	probably null	Het
Serpina3b	A	T	12: 104,099,251 (GRCm39)	E255D	probably benign	Het
Sft2d1rt	T	C	11: 45,942,859 (GRCm39)	Q88R	probably damaging	Het
Slc46a1	A	G	11: 78,357,790 (GRCm39)	H281R	probably damaging	Het
Spata6	T	C	4: 111,642,012 (GRCm39)	I294T	probably benign	Het
Srgap1	T	A	10: 121,664,631 (GRCm39)		probably null	Het
Stag1	C	T	9: 100,826,903 (GRCm39)	R957C	probably damaging	Het
Stk35	G	A	2: 129,643,573 (GRCm39)	E186K	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tenm4	G	A	7: 96,544,478 (GRCm39)	V2165I	probably damaging	Het
Tmem53	T	C	4: 117,125,528 (GRCm39)	S207P	probably benign	Het
Ugt2a3	A	G	5: 87,484,617 (GRCm39)	F136L	probably benign	Het
Unc13d	T	C	11: 115,957,577 (GRCm39)	K795E	probably damaging	Het
Zbtb11	C	A	16: 55,810,865 (GRCm39)	T341K	probably benign	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
R1933:Gpr162	UTSW	6	124,838,410 (GRCm39)	missense	probably damaging	0.98
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
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'- CAATGGCTGGCACCTCAAAAG -3'
(R):5'- TGTGTCCACCTACTACACGC -3'

Sequencing Primer
(F):5'- TCAAAAGCTGGCCGGGTAC -3'
(R):5'- TACTACACGCTGGCCCTG -3'

Posted On

2018-09-12