Mutagenetix > Incidental Mutation

Incidental Mutation 'R7278:Gpr37'

571543

Institutional Source

Beutler Lab

Gene Symbol

Gpr37

Ensembl Gene

ENSMUSG00000039904

Gene Name

G protein-coupled receptor 37

Synonyms

parkin-associated endothelin B-like receptor, Pael-R

MMRRC Submission

045360-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R7278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25665878-25690729 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25669342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 501 (V501A)

Ref Sequence

ENSEMBL: ENSMUSP00000052185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054867] [ENSMUST00000200812]

AlphaFold

Q9QY42

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054867
AA Change: V501A

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000052185
Gene: ENSMUSG00000039904
AA Change: V501A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	101	116	N/A	INTRINSIC
Pfam:7tm_1	265	536	5.2e-33	PFAM
low complexity region	549	558	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200812

SMART Domains

Protein: ENSMUSP00000144683
Gene: ENSMUSG00000039904

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	101	116	N/A	INTRINSIC
Pfam:7tm_1	265	421	3.4e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the G protein-coupled receptor family. The encoded protein contains seven transmembrane domains and is found in cell and endoplasmic reticulum membranes. G protein-coupled receptors are involved in translating outside signals into G protein mediated intracellular effects. This gene product interacts with Parkin and is involved in juvenile Parkinson disease. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit reduced striatal dopamine content, enhanced amphetamine sensitivity, reduced motor activity and coordination and increased percentage of body fat in females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,065,476 (GRCm38)	L142P	probably benign	Het
Abca13	A	T	11: 9,291,126 (GRCm38)	R996S	possibly damaging	Het
Abcb6	A	G	1: 75,174,373 (GRCm38)	F558L	possibly damaging	Het
Acp7	T	A	7: 28,630,882 (GRCm38)	D2V	unknown	Het
Acvr1c	T	C	2: 58,284,936 (GRCm38)	D280G	probably damaging	Het
Atp8a1	A	G	5: 67,624,037 (GRCm38)	S1124P		Het
B4galnt1	A	T	10: 127,167,788 (GRCm38)	T207S	probably benign	Het
C2cd4d	C	A	3: 94,364,138 (GRCm38)	T237N	probably benign	Het
C8b	T	C	4: 104,780,627 (GRCm38)	C99R	probably damaging	Het
Ccnk	C	A	12: 108,193,705 (GRCm38)	Q149K	possibly damaging	Het
Chfr	A	G	5: 110,140,360 (GRCm38)	D47G	probably benign	Het
Chid1	A	T	7: 141,529,488 (GRCm38)		probably null	Het
Cmya5	T	A	13: 93,095,700 (GRCm38)	E960V	probably damaging	Het
Col18a1	A	G	10: 77,096,284 (GRCm38)	S112P	unknown	Het
Cps1	G	A	1: 67,170,921 (GRCm38)	V637I	probably damaging	Het
Crispld1	A	G	1: 17,752,878 (GRCm38)	T390A	probably benign	Het
Cyp2c54	A	T	19: 40,070,253 (GRCm38)	L245*	probably null	Het
Ddr2	G	T	1: 169,984,961 (GRCm38)	T654K	probably damaging	Het
Dnah10	T	C	5: 124,791,791 (GRCm38)		probably null	Het
Elavl4	C	T	4: 110,211,425 (GRCm38)		probably null	Het
Emilin1	T	C	5: 30,920,660 (GRCm38)	V921A	probably benign	Het
Evpl	T	A	11: 116,223,113 (GRCm38)	E1250D	probably damaging	Het
Fam228a	C	T	12: 4,732,790 (GRCm38)	G101E	probably benign	Het
Fam92b	T	A	8: 120,168,603 (GRCm38)	T187S	possibly damaging	Het
Gemin4	T	C	11: 76,212,106 (GRCm38)	T610A	probably damaging	Het
Glis1	T	C	4: 107,435,683 (GRCm38)	M1T	probably null	Het
Gm14399	C	T	2: 175,130,459 (GRCm38)		probably benign	Het
Gorasp2	C	T	2: 70,679,505 (GRCm38)	T170I	probably damaging	Het
Grik4	T	A	9: 42,622,060 (GRCm38)	Q388L	probably benign	Het
Hspg2	T	A	4: 137,551,125 (GRCm38)	D3035E	probably damaging	Het
Htr4	A	T	18: 62,412,176 (GRCm38)	N11Y	probably benign	Het
Itgb2l	A	G	16: 96,429,043 (GRCm38)	S356P	probably damaging	Het
Klk1b22	A	G	7: 44,114,749 (GRCm38)	N34D	probably benign	Het
Lmcd1	A	G	6: 112,310,539 (GRCm38)	D62G	possibly damaging	Het
Lrp2	C	T	2: 69,486,352 (GRCm38)	G2095E	probably damaging	Het
Macf1	T	A	4: 123,440,743 (GRCm38)	E4407V	possibly damaging	Het
Mcm5	T	C	8: 75,124,859 (GRCm38)	F631L	probably benign	Het
Mov10l1	A	G	15: 88,993,868 (GRCm38)	S170G	probably benign	Het
Muc5b	A	T	7: 141,857,502 (GRCm38)	D1395V	unknown	Het
Muc6	G	A	7: 141,640,575 (GRCm38)	T1395M	probably benign	Het
Myh15	A	G	16: 49,091,105 (GRCm38)	D300G	probably damaging	Het
Nat6	T	C	9: 107,583,299 (GRCm38)	L131P	probably damaging	Het
Ndst4	A	G	3: 125,438,303 (GRCm38)	T174A	probably benign	Het
Nek5	T	A	8: 22,090,484 (GRCm38)	N406I	probably benign	Het
Nr2c2	G	A	6: 92,159,378 (GRCm38)	V400I	probably damaging	Het
Olfr364-ps1	G	T	2: 37,147,009 (GRCm38)	V266L	probably benign	Het
Olfr365	T	C	2: 37,202,080 (GRCm38)	Y280H	probably damaging	Het
Olfr449	G	A	6: 42,834,396 (GRCm38)		probably null	Het
Olfr554	T	C	7: 102,640,983 (GRCm38)	S246P	probably damaging	Het
Olfr612	A	T	7: 103,538,728 (GRCm38)	Y169N	probably benign	Het
Olfr787	T	A	10: 129,462,751 (GRCm38)	I25N	probably damaging	Het
Parn	T	C	16: 13,626,063 (GRCm38)		probably null	Het
Pfkl	T	C	10: 77,992,023 (GRCm38)	T468A	probably damaging	Het
Pi16	C	A	17: 29,319,234 (GRCm38)	P7Q	possibly damaging	Het
Plce1	T	C	19: 38,779,896 (GRCm38)	I2205T	possibly damaging	Het
Prss16	A	T	13: 22,003,147 (GRCm38)	N442K	probably damaging	Het
Pus7	A	G	5: 23,752,344 (GRCm38)	S370P	probably damaging	Het
Ripk3	G	T	14: 55,787,284 (GRCm38)	Y210*	probably null	Het
Rps6ka2	C	A	17: 7,271,635 (GRCm38)	F317L	probably damaging	Het
Slc13a3	G	A	2: 165,445,528 (GRCm38)	R169W	possibly damaging	Het
Slc6a21	T	A	7: 45,282,480 (GRCm38)	I256N	possibly damaging	Het
Slc6a9	G	A	4: 117,868,106 (GRCm38)	R589Q	probably benign	Het
Slc8a2	T	C	7: 16,141,152 (GRCm38)	S442P	probably damaging	Het
Snupn	T	A	9: 56,982,744 (GRCm38)	M283K	probably damaging	Het
Steap3	A	T	1: 120,234,357 (GRCm38)	M395K	probably damaging	Het
Sv2b	G	A	7: 75,147,654 (GRCm38)	P331S	probably damaging	Het
Tlr1	A	G	5: 64,926,772 (GRCm38)	V154A	probably benign	Het
Tmem131	A	G	1: 36,796,301 (GRCm38)	S1580P	probably damaging	Het
Tmem51	TCCCC	TCCC	4: 142,037,685 (GRCm38)		probably null	Het
Trav14d-3-dv8	G	A	14: 53,078,761 (GRCm38)	R26H	probably benign	Het
Trp53	C	T	11: 69,591,255 (GRCm38)	L365F	probably benign	Het
Trp53bp1	A	T	2: 121,199,035 (GRCm38)	I1838N	probably damaging	Het
Ugt1a5	A	T	1: 88,166,886 (GRCm38)	K279*	probably null	Het
Unc80	A	G	1: 66,552,209 (GRCm38)	E1141G	possibly damaging	Het
Vti1b	T	C	12: 79,166,379 (GRCm38)	D49G	probably benign	Het
Wnt10a	A	T	1: 74,793,482 (GRCm38)	H78L	possibly damaging	Het
Zfp869	G	A	8: 69,706,478 (GRCm38)	H482Y	probably damaging	Het
Zfyve1	A	G	12: 83,551,540 (GRCm38)	V638A	probably damaging	Het

Other mutations in Gpr37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Gpr37	APN	6	25,669,318 (GRCm38)	missense	possibly damaging	0.65
IGL01595:Gpr37	APN	6	25,669,573 (GRCm38)	missense	probably damaging	1.00
IGL01670:Gpr37	APN	6	25,669,834 (GRCm38)	missense	probably damaging	1.00
IGL02552:Gpr37	APN	6	25,688,687 (GRCm38)	missense	probably benign	0.05
IGL03331:Gpr37	APN	6	25,669,729 (GRCm38)	missense	probably benign	0.26
R0375:Gpr37	UTSW	6	25,669,291 (GRCm38)	missense	probably benign	0.08
R0534:Gpr37	UTSW	6	25,669,824 (GRCm38)	nonsense	probably null
R0892:Gpr37	UTSW	6	25,688,207 (GRCm38)	missense	probably damaging	1.00
R1481:Gpr37	UTSW	6	25,669,138 (GRCm38)	missense	probably damaging	0.99
R1700:Gpr37	UTSW	6	25,669,624 (GRCm38)	missense	probably benign	0.09
R2083:Gpr37	UTSW	6	25,688,417 (GRCm38)	missense	possibly damaging	0.62
R2089:Gpr37	UTSW	6	25,689,063 (GRCm38)	missense	possibly damaging	0.73
R2091:Gpr37	UTSW	6	25,689,063 (GRCm38)	missense	possibly damaging	0.73
R2091:Gpr37	UTSW	6	25,689,063 (GRCm38)	missense	possibly damaging	0.73
R2112:Gpr37	UTSW	6	25,669,381 (GRCm38)	missense	possibly damaging	0.91
R2847:Gpr37	UTSW	6	25,666,946 (GRCm38)	unclassified	probably benign
R2848:Gpr37	UTSW	6	25,666,946 (GRCm38)	unclassified	probably benign
R4119:Gpr37	UTSW	6	25,688,426 (GRCm38)	missense	possibly damaging	0.90
R4611:Gpr37	UTSW	6	25,669,624 (GRCm38)	missense	probably benign	0.09
R4734:Gpr37	UTSW	6	25,689,086 (GRCm38)	missense	possibly damaging	0.53
R4765:Gpr37	UTSW	6	25,669,108 (GRCm38)	missense	probably damaging	1.00
R5163:Gpr37	UTSW	6	25,669,615 (GRCm38)	missense	possibly damaging	0.87
R5669:Gpr37	UTSW	6	25,669,352 (GRCm38)	missense	probably benign	0.05
R6548:Gpr37	UTSW	6	25,688,813 (GRCm38)	missense	probably benign	0.32
R6760:Gpr37	UTSW	6	25,669,169 (GRCm38)	missense	probably benign	0.00
R7030:Gpr37	UTSW	6	25,689,005 (GRCm38)	missense	possibly damaging	0.92
R7392:Gpr37	UTSW	6	25,688,787 (GRCm38)	missense	probably benign	0.34
R7726:Gpr37	UTSW	6	25,669,117 (GRCm38)	missense	possibly damaging	0.94
R7754:Gpr37	UTSW	6	25,689,050 (GRCm38)	missense	probably damaging	0.99
R7757:Gpr37	UTSW	6	25,688,208 (GRCm38)	missense	probably benign	0.26
R8344:Gpr37	UTSW	6	25,669,531 (GRCm38)	missense	probably damaging	1.00
R8734:Gpr37	UTSW	6	25,688,202 (GRCm38)	missense	probably benign	0.17
R8839:Gpr37	UTSW	6	25,669,370 (GRCm38)	missense	probably benign	0.15
V7732:Gpr37	UTSW	6	25,669,123 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCGTTGTCGTCACTGGTCAC -3'
(R):5'- CCTATGATGGTGCAAGGCTTTG -3'

Sequencing Primer
(F):5'- GTGGAAGACTTCTGGATACACTCC -3'
(R):5'- GGCTGCTACTTTTGTCTGCC -3'

Posted On

2019-09-13