Mutagenetix > Incidental Mutation

Incidental Mutation 'R7754:Gpr37'

597436

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

045810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R7754 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25668522-25689979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25689049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 16 (L16H)

Ref Sequence

ENSEMBL: ENSMUSP00000052185 (fasta)

Gene Model

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

AlphaFold

Q9QY42

Predicted Effect

probably damaging
Transcript: ENSMUST00000054867
AA Change: L16H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052185
Gene: ENSMUSG00000039904
AA Change: L16H

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 damaging
Transcript: ENSMUST00000200812
AA Change: L16H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144683
Gene: ENSMUSG00000039904
AA Change: L16H

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

Meta Mutation Damage Score

0.3544

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	T	4: 88,786,496 (GRCm39)	W41R	unknown	Het
Aatf	G	A	11: 84,402,335 (GRCm39)	S117L	possibly damaging	Het
Abca12	C	A	1: 71,342,046 (GRCm39)	V972L	probably benign	Het
Abcb11	T	A	2: 69,117,162 (GRCm39)	R495S	probably damaging	Het
Acss2	T	A	2: 155,403,086 (GRCm39)	H621Q	probably benign	Het
Akap9	T	C	5: 4,096,736 (GRCm39)	L2537P	probably benign	Het
Apbb1	C	T	7: 105,208,509 (GRCm39)	A597T	probably damaging	Het
Cacna1d	A	T	14: 29,797,809 (GRCm39)	I1448N	probably damaging	Het
Cacna1e	C	T	1: 154,288,863 (GRCm39)	E1841K	probably damaging	Het
Ccdc162	G	T	10: 41,463,371 (GRCm39)	P1457Q	probably damaging	Het
Cep70	A	G	9: 99,163,145 (GRCm39)	K331E	probably damaging	Het
Cplane1	C	A	15: 8,273,310 (GRCm39)	Q2534K	possibly damaging	Het
Cstpp1	A	T	2: 91,135,188 (GRCm39)		probably null	Het
D430041D05Rik	A	T	2: 104,087,504 (GRCm39)	Y491N	probably benign	Het
Dnah6	T	C	6: 73,002,703 (GRCm39)	I3898V	probably benign	Het
Drd2	A	G	9: 49,316,277 (GRCm39)	T346A	probably benign	Het
Efcab9	T	C	11: 32,472,941 (GRCm39)	T169A	possibly damaging	Het
Fam163a	A	T	1: 155,955,729 (GRCm39)	I21N	probably damaging	Het
Fam171a2	C	T	11: 102,329,389 (GRCm39)	D457N	probably benign	Het
Fbn1	A	T	2: 125,321,200 (GRCm39)		probably null	Het
Gtf3c2	T	C	5: 31,330,175 (GRCm39)	D265G	probably benign	Het
Idh1	G	T	1: 65,198,649 (GRCm39)	A407D	probably benign	Het
Ifna12	A	G	4: 88,521,415 (GRCm39)	M44T	probably damaging	Het
Il22ra1	A	G	4: 135,461,561 (GRCm39)	M109V	probably benign	Het
Jag2	A	T	12: 112,879,089 (GRCm39)		probably null	Het
Lca5l	T	C	16: 95,960,761 (GRCm39)	D572G	unknown	Het
Lcn11	G	A	2: 25,667,830 (GRCm39)	V73I	probably benign	Het
Lrba	A	G	3: 86,352,704 (GRCm39)	T1951A	probably damaging	Het
Ltbp2	A	G	12: 84,860,012 (GRCm39)		probably null	Het
Malrd1	G	A	2: 15,802,610 (GRCm39)		probably null	Het
Morc2b	C	A	17: 33,356,218 (GRCm39)	G518V	probably benign	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myo5b	A	T	18: 74,767,630 (GRCm39)	T313S	probably benign	Het
Neto2	C	A	8: 86,396,329 (GRCm39)	L140F	probably damaging	Het
Nlgn1	C	T	3: 25,488,467 (GRCm39)	V623I	probably damaging	Het
Optc	A	G	1: 133,834,730 (GRCm39)	S15P	possibly damaging	Het
Or1e25	C	T	11: 73,494,332 (GRCm39)	Q309*	probably null	Het
Or1l4b	A	G	2: 37,036,858 (GRCm39)	I211M	possibly damaging	Het
Or52e19b	C	A	7: 103,032,945 (GRCm39)	W88L	probably damaging	Het
Or7c19	T	A	8: 85,957,427 (GRCm39)	M101K	possibly damaging	Het
Or9k2	T	G	10: 129,998,698 (GRCm39)	T166P	probably damaging	Het
Otogl	A	G	10: 107,705,407 (GRCm39)	V640A	probably damaging	Het
Pcdhgb2	T	C	18: 37,823,023 (GRCm39)	S5P	probably benign	Het
Pde3a	A	T	6: 141,404,975 (GRCm39)	E400V	probably benign	Het
Pkhd1l1	A	G	15: 44,449,804 (GRCm39)	I3856V	possibly damaging	Het
Pld2	G	A	11: 70,443,695 (GRCm39)		probably null	Het
Plxna4	G	T	6: 32,129,807 (GRCm39)	H1839N	probably damaging	Het
Ppp6r2	T	C	15: 89,140,904 (GRCm39)	V89A	probably benign	Het
Rapgef3	T	C	15: 97,655,627 (GRCm39)	D420G	probably damaging	Het
Rnf17	T	A	14: 56,699,529 (GRCm39)		probably null	Het
Rps6ka2	T	A	17: 7,544,848 (GRCm39)		probably null	Het
Rptn	A	T	3: 93,303,228 (GRCm39)	D187V	probably damaging	Het
Rtn1	T	C	12: 72,355,203 (GRCm39)	K248E	probably damaging	Het
Rtn4rl1	A	T	11: 75,155,871 (GRCm39)	H101L	probably benign	Het
Septin3	A	G	15: 82,174,974 (GRCm39)	N305S	probably benign	Het
Serpina3f	G	T	12: 104,183,565 (GRCm39)	K142N	possibly damaging	Het
Ssh1	C	A	5: 114,104,295 (GRCm39)	R116L	probably benign	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tlr6	T	C	5: 65,111,693 (GRCm39)	K405E	possibly damaging	Het
Trbv13-2	G	A	6: 41,098,634 (GRCm39)	A70T	probably benign	Het
Ttn	A	T	2: 76,618,540 (GRCm39)	I16248N	probably damaging	Het
Ttn	A	T	2: 76,655,849 (GRCm39)		probably null	Het
Vldlr	A	T	19: 27,195,015 (GRCm39)	M1L	probably benign	Het
Wscd1	A	G	11: 71,675,191 (GRCm39)	H366R	probably damaging	Het
Zbtb8a	A	G	4: 129,251,496 (GRCm39)		probably null	Het
Zfp827	T	C	8: 79,916,958 (GRCm39)	V511A		Het

Other mutations in Gpr37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Gpr37	APN	6	25,669,317 (GRCm39)	missense	possibly damaging	0.65
IGL01595:Gpr37	APN	6	25,669,572 (GRCm39)	missense	probably damaging	1.00
IGL01670:Gpr37	APN	6	25,669,833 (GRCm39)	missense	probably damaging	1.00
IGL02552:Gpr37	APN	6	25,688,686 (GRCm39)	missense	probably benign	0.05
IGL03331:Gpr37	APN	6	25,669,728 (GRCm39)	missense	probably benign	0.26
R0375:Gpr37	UTSW	6	25,669,290 (GRCm39)	missense	probably benign	0.08
R0534:Gpr37	UTSW	6	25,669,823 (GRCm39)	nonsense	probably null
R0892:Gpr37	UTSW	6	25,688,206 (GRCm39)	missense	probably damaging	1.00
R1481:Gpr37	UTSW	6	25,669,137 (GRCm39)	missense	probably damaging	0.99
R1700:Gpr37	UTSW	6	25,669,623 (GRCm39)	missense	probably benign	0.09
R2083:Gpr37	UTSW	6	25,688,416 (GRCm39)	missense	possibly damaging	0.62
R2089:Gpr37	UTSW	6	25,689,062 (GRCm39)	missense	possibly damaging	0.73
R2091:Gpr37	UTSW	6	25,689,062 (GRCm39)	missense	possibly damaging	0.73
R2091:Gpr37	UTSW	6	25,689,062 (GRCm39)	missense	possibly damaging	0.73
R2112:Gpr37	UTSW	6	25,669,380 (GRCm39)	missense	possibly damaging	0.91
R2847:Gpr37	UTSW	6	25,666,945 (GRCm39)	unclassified	probably benign
R2848:Gpr37	UTSW	6	25,666,945 (GRCm39)	unclassified	probably benign
R4119:Gpr37	UTSW	6	25,688,425 (GRCm39)	missense	possibly damaging	0.90
R4611:Gpr37	UTSW	6	25,669,623 (GRCm39)	missense	probably benign	0.09
R4734:Gpr37	UTSW	6	25,689,085 (GRCm39)	missense	possibly damaging	0.53
R4765:Gpr37	UTSW	6	25,669,107 (GRCm39)	missense	probably damaging	1.00
R5163:Gpr37	UTSW	6	25,669,614 (GRCm39)	missense	possibly damaging	0.87
R5669:Gpr37	UTSW	6	25,669,351 (GRCm39)	missense	probably benign	0.05
R6548:Gpr37	UTSW	6	25,688,812 (GRCm39)	missense	probably benign	0.32
R6760:Gpr37	UTSW	6	25,669,168 (GRCm39)	missense	probably benign	0.00
R7030:Gpr37	UTSW	6	25,689,004 (GRCm39)	missense	possibly damaging	0.92
R7278:Gpr37	UTSW	6	25,669,341 (GRCm39)	missense	possibly damaging	0.68
R7392:Gpr37	UTSW	6	25,688,786 (GRCm39)	missense	probably benign	0.34
R7726:Gpr37	UTSW	6	25,669,116 (GRCm39)	missense	possibly damaging	0.94
R7757:Gpr37	UTSW	6	25,688,207 (GRCm39)	missense	probably benign	0.26
R8344:Gpr37	UTSW	6	25,669,530 (GRCm39)	missense	probably damaging	1.00
R8734:Gpr37	UTSW	6	25,688,201 (GRCm39)	missense	probably benign	0.17
R8839:Gpr37	UTSW	6	25,669,369 (GRCm39)	missense	probably benign	0.15
V7732:Gpr37	UTSW	6	25,669,122 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCTCTCTGGGCACATGGAC -3'
(R):5'- GCTCAGAACATGAAACGTGG -3'

Sequencing Primer
(F):5'- TGGGCACATGGACTCGCAG -3'
(R):5'- GATGACACCGTCCTTCCCCAAG -3'

Posted On

2019-11-26