Mutagenetix > Incidental Mutation

Incidental Mutation 'R2091:Gpr37'

231774

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

040096-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R2091 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25668522-25689979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25689062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 12 (S12P)

Ref Sequence

ENSEMBL: ENSMUSP00000144683 (fasta)

Gene Model

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

AlphaFold

Q9QY42

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054867
AA Change: S12P

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

SMART Domains

Protein: ENSMUSP00000052185
Gene: ENSMUSG00000039904
AA Change: S12P

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

possibly damaging
Transcript: ENSMUST00000200812
AA Change: S12P

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

SMART Domains

Protein: ENSMUSP00000144683
Gene: ENSMUSG00000039904
AA Change: S12P

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

0.2370

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (50/51)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	C	2: 19,522,357 (GRCm39)	N247K	probably damaging	Het
4930402F06Rik	T	C	2: 35,266,079 (GRCm39)	K197R	probably benign	Het
Adam9	A	T	8: 25,485,200 (GRCm39)		probably benign	Het
Adgrl1	T	C	8: 84,661,093 (GRCm39)	I862T	probably damaging	Het
Agbl1	G	A	7: 76,239,248 (GRCm39)	V583M	probably damaging	Het
Angpt4	A	T	2: 151,778,703 (GRCm39)		probably benign	Het
Apba2	T	A	7: 64,345,341 (GRCm39)	V177D	probably benign	Het
Atg14	A	T	14: 47,780,352 (GRCm39)	I474N	probably damaging	Het
Bicdl1	A	G	5: 115,862,638 (GRCm39)	S206P	probably damaging	Het
Bltp1	C	T	3: 37,042,405 (GRCm39)	T2797I	probably damaging	Het
Calhm3	T	A	19: 47,140,430 (GRCm39)	D221V	probably damaging	Het
Ccdc93	T	A	1: 121,411,071 (GRCm39)		probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dido1	A	T	2: 180,303,677 (GRCm39)	V1409E	probably benign	Het
Dsc2	G	A	18: 20,166,351 (GRCm39)	T760I	possibly damaging	Het
Etnk2	T	G	1: 133,304,791 (GRCm39)		probably null	Het
Gbp7	A	T	3: 142,240,383 (GRCm39)	I34F	probably damaging	Het
Gbp7	A	T	3: 142,251,316 (GRCm39)		probably benign	Het
Grxcr1	T	C	5: 68,267,755 (GRCm39)	I168T	probably damaging	Het
Hat1	T	C	2: 71,264,378 (GRCm39)	V272A	probably benign	Het
Hook3	A	T	8: 26,549,422 (GRCm39)		probably benign	Het
Igkv8-30	A	C	6: 70,094,070 (GRCm39)	C114G	probably damaging	Het
Lrrc4	T	G	6: 28,830,586 (GRCm39)	D343A	probably benign	Het
Mars1	A	G	10: 127,135,154 (GRCm39)	S646P	probably damaging	Het
Mterf1b	A	T	5: 4,247,057 (GRCm39)	T233S	possibly damaging	Het
Myrf	A	T	19: 10,201,964 (GRCm39)	V171D	possibly damaging	Het
Nbas	G	A	12: 13,411,046 (GRCm39)	D897N	probably benign	Het
Nfx1	T	C	4: 40,977,004 (GRCm39)	V226A	probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Ntrk2	A	G	13: 59,007,115 (GRCm39)	H239R	possibly damaging	Het
Or10g9	T	C	9: 39,912,500 (GRCm39)	T8A	probably benign	Het
Pcdhb18	T	C	18: 37,623,653 (GRCm39)	S328P	probably damaging	Het
Pigm	T	C	1: 172,205,100 (GRCm39)	Y279H	probably damaging	Het
Pik3cd	A	G	4: 149,737,156 (GRCm39)	L880P	probably damaging	Het
Plaat3	A	G	19: 7,556,474 (GRCm39)	I92V	probably damaging	Het
Polh	A	T	17: 46,492,380 (GRCm39)		probably benign	Het
Prom1	T	C	5: 44,171,428 (GRCm39)		probably benign	Het
Ptger4	T	A	15: 5,272,326 (GRCm39)	I98F	possibly damaging	Het
Rasl11a	T	A	5: 146,783,927 (GRCm39)	I124N	probably damaging	Het
Rest	A	G	5: 77,429,126 (GRCm39)	K515R	possibly damaging	Het
Ryr1	A	G	7: 28,785,474 (GRCm39)	L1746P	probably damaging	Het
Ryr2	G	T	13: 11,960,863 (GRCm39)	T25K	probably benign	Het
Serpina3g	A	T	12: 104,205,417 (GRCm39)	D52V	probably damaging	Het
Skint6	T	C	4: 112,703,881 (GRCm39)	N998S	probably benign	Het
Sntg1	T	A	1: 8,665,763 (GRCm39)	T184S	probably benign	Het
Ssbp1	A	G	6: 40,453,433 (GRCm39)	Y73C	probably null	Het
Suclg1	A	G	6: 73,241,259 (GRCm39)	K193R	probably benign	Het
Tnrc18	A	C	5: 142,759,396 (GRCm39)	S813R	unknown	Het
Tnrc6a	T	C	7: 122,771,343 (GRCm39)		probably null	Het
Trap1	A	C	16: 3,863,903 (GRCm39)	Y472*	probably null	Het
Trpm8	T	C	1: 88,271,048 (GRCm39)	I446T	probably damaging	Het
Tti2	T	C	8: 31,644,294 (GRCm39)	L297P	probably damaging	Het
Umodl1	A	G	17: 31,190,893 (GRCm39)	M247V	probably benign	Het
Unc80	T	A	1: 66,710,874 (GRCm39)		probably benign	Het
Zfp174	A	G	16: 3,672,506 (GRCm39)	R352G	possibly damaging	Het
Zfp955a	T	A	17: 33,461,731 (GRCm39)	K134*	probably null	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
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
R7754:Gpr37	UTSW	6	25,689,049 (GRCm39)	missense	probably damaging	0.99
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'- ATGCTCAGAACATGAAACGTGG -3'

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

Posted On

2014-09-18