Mutagenetix > Incidental Mutation

Incidental Mutation 'R1875:Gpr68'

211172

Institutional Source

Beutler Lab

Gene Symbol

Gpr68

Ensembl Gene

ENSMUSG00000047415

Gene Name

G protein-coupled receptor 68

Synonyms

OGR1

MMRRC Submission

039897-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100842941-100874457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100845049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 165 (D165V)

Ref Sequence

ENSEMBL: ENSMUSP00000105693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053668] [ENSMUST00000110065] [ENSMUST00000110066] [ENSMUST00000110070]

AlphaFold

Q8BFQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000053668
AA Change: D165V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057510
Gene: ENSMUSG00000047415
AA Change: D165V

Domain	Start	End	E-Value	Type
low complexity region	26	34	N/A	INTRINSIC
Pfam:7tm_1	38	286	2.3e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110065
AA Change: D165V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105692
Gene: ENSMUSG00000047415
AA Change: D165V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	29	162	3e-6	PFAM
Pfam:7tm_1	38	286	1.8e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110066
AA Change: D165V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105693
Gene: ENSMUSG00000047415
AA Change: D165V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	29	162	3e-6	PFAM
Pfam:7tm_1	38	286	1.8e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110070

SMART Domains

Protein: ENSMUSP00000105697
Gene: ENSMUSG00000021185

Domain	Start	End	E-Value	Type
Pfam:DUF1445	115	257	2.8e-51	PFAM
Pfam:DUF4392	298	563	2.5e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124957

SMART Domains

Protein: ENSMUSP00000122512
Gene: ENSMUSG00000021185

Domain	Start	End	E-Value	Type
Pfam:DUF4392	4	65	9.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135684

Meta Mutation Damage Score

0.2729

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.1%

Validation Efficiency

98% (85/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor for sphingosylphosphorylcholine. The encoded protein is a proton-sensing receptor, inactive at pH 7.8 but active at pH 6.8. Mutations in this gene are a cause of amelogenesis imperfecta. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased osteoclastogenesis, abnormal pH-sensitive osteoclast survival, and background sensitive alterations in brown adipose tissue, monocytes, and macrophages. Mice homozygous for a different allele exhibit attenuated glucose-stimulated insulin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,847,190 (GRCm39)	M685L	possibly damaging	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Adam26a	C	A	8: 44,022,888 (GRCm39)	V201L	probably benign	Het
Adamts20	G	T	15: 94,229,277 (GRCm39)	D947E	probably benign	Het
Ankrd26	A	G	6: 118,517,410 (GRCm39)		probably null	Het
Apol11a	C	A	15: 77,397,766 (GRCm39)	T39N	possibly damaging	Het
Arhgef38	T	A	3: 132,839,501 (GRCm39)		probably null	Het
Armh4	T	C	14: 49,919,815 (GRCm39)	D772G	probably damaging	Het
Atp11b	T	C	3: 35,893,296 (GRCm39)	L883P	probably damaging	Het
Btnl10	T	A	11: 58,814,586 (GRCm39)	I422N	probably damaging	Het
C2cd3	A	G	7: 100,056,232 (GRCm39)	K547E	possibly damaging	Het
Cdh2	T	A	18: 16,757,934 (GRCm39)	L549F	probably benign	Het
Celsr3	T	C	9: 108,713,037 (GRCm39)	V1825A	probably benign	Het
Cfap221	T	C	1: 119,881,389 (GRCm39)	I358V	probably benign	Het
Cimap2	G	A	4: 106,470,453 (GRCm39)		probably benign	Het
Csmd1	T	C	8: 15,979,101 (GRCm39)	K2828E	probably damaging	Het
Ddah2	T	C	17: 35,279,821 (GRCm39)	F137S	probably damaging	Het
Ddx21	A	G	10: 62,429,847 (GRCm39)	I299T	probably damaging	Het
Dnah7a	A	T	1: 53,495,691 (GRCm39)		probably benign	Het
Elmod1	A	G	9: 53,843,151 (GRCm39)	I9T	probably benign	Het
Epha2	A	G	4: 141,036,290 (GRCm39)	E242G	probably benign	Het
Erbb3	T	C	10: 128,410,335 (GRCm39)	H641R	possibly damaging	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Fli1	T	C	9: 32,335,209 (GRCm39)	M408V	probably benign	Het
Fmo4	T	C	1: 162,631,187 (GRCm39)	N260S	possibly damaging	Het
Fry	A	G	5: 150,249,597 (GRCm39)	E136G	probably damaging	Het
Gm10477	T	A	X: 55,570,127 (GRCm39)	F9Y	probably damaging	Het
Gm8258	A	G	5: 104,924,320 (GRCm39)		noncoding transcript	Het
Htt	T	A	5: 34,951,456 (GRCm39)	M139K	probably benign	Het
Jup	A	G	11: 100,263,120 (GRCm39)		probably null	Het
Kifc5b	G	A	17: 27,136,264 (GRCm39)		probably null	Het
Krba1	T	A	6: 48,390,983 (GRCm39)		probably null	Het
Lamp1	G	A	8: 13,217,257 (GRCm39)	G89R	probably damaging	Het
Lrrc17	C	T	5: 21,765,650 (GRCm39)	S44F	possibly damaging	Het
Mdga1	T	C	17: 30,071,581 (GRCm39)	T347A	probably damaging	Het
Mical3	A	T	6: 121,019,025 (GRCm39)	W66R	probably damaging	Het
Mpl	A	G	4: 118,314,026 (GRCm39)	Y73H	probably benign	Het
Mterf1b	T	A	5: 4,247,364 (GRCm39)	I335N	possibly damaging	Het
Mylk3	A	G	8: 86,079,494 (GRCm39)	I388T	probably damaging	Het
Myo15a	C	T	11: 60,398,354 (GRCm39)	R2775W	probably damaging	Het
Myoz2	A	T	3: 122,819,765 (GRCm39)	S65T	probably damaging	Het
Ndrg1	T	C	15: 66,802,940 (GRCm39)	T137A	possibly damaging	Het
Neil3	G	T	8: 54,052,454 (GRCm39)	N381K	probably damaging	Het
Obsl1	T	C	1: 75,474,877 (GRCm39)	Y841C	probably damaging	Het
Or2b4	A	G	17: 38,115,996 (GRCm39)		probably benign	Het
Or6b6	G	A	7: 106,571,389 (GRCm39)	S54F	possibly damaging	Het
Otogl	T	C	10: 107,735,451 (GRCm39)	D111G	probably damaging	Het
Parp10	T	C	15: 76,127,051 (GRCm39)	E103G	probably damaging	Het
Pars2	T	C	4: 106,510,913 (GRCm39)	F232L	possibly damaging	Het
Pcdh18	A	T	3: 49,709,154 (GRCm39)	F720L	probably damaging	Het
Phf3	T	C	1: 30,869,704 (GRCm39)	E448G	possibly damaging	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Pik3c2a	A	T	7: 116,017,206 (GRCm39)	S184T	probably benign	Het
Pkd1l1	A	G	11: 8,794,670 (GRCm39)		probably benign	Het
Plch2	G	A	4: 155,082,965 (GRCm39)	S485F	probably damaging	Het
Plxnd1	G	T	6: 115,955,045 (GRCm39)		probably null	Het
Pnliprp2	G	T	19: 58,751,821 (GRCm39)	V189L	probably benign	Het
Prl8a2	T	C	13: 27,535,037 (GRCm39)	V103A	probably benign	Het
Psg23	G	A	7: 18,344,375 (GRCm39)	T360I	probably benign	Het
Rad51c	A	T	11: 87,279,469 (GRCm39)	I323N	probably damaging	Het
Rsbn1l	C	T	5: 21,156,696 (GRCm39)	E30K	probably benign	Het
Serpina3c	C	A	12: 104,118,145 (GRCm39)	L64F	probably damaging	Het
Shroom1	A	G	11: 53,356,502 (GRCm39)	D392G	probably damaging	Het
Slc26a5	T	A	5: 22,020,725 (GRCm39)	I540L	probably benign	Het
Slc37a4	A	G	9: 44,312,808 (GRCm39)	T321A	probably damaging	Het
Slc41a2	A	G	10: 83,091,949 (GRCm39)	L438S	probably damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Spef2	C	T	15: 9,597,487 (GRCm39)	G1390R	possibly damaging	Het
Spmap2l	A	T	5: 77,202,431 (GRCm39)	K284M	probably benign	Het
Synj2	G	T	17: 6,078,825 (GRCm39)	A740S	possibly damaging	Het
Tigd4	A	C	3: 84,502,394 (GRCm39)	D437A	probably benign	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem106a	CAGCTCAACACGACGGTA	CAGCTCAACACGACGGTAAGCTCAACACGACGGTA	11: 101,477,204 (GRCm39)		probably benign	Het
Tmem131l	A	T	3: 83,812,383 (GRCm39)	C1313*	probably null	Het
Tmem86b	A	T	7: 4,632,698 (GRCm39)	I47N	possibly damaging	Het
Tspan13	T	C	12: 36,070,550 (GRCm39)		probably null	Het
Vps54	A	G	11: 21,250,251 (GRCm39)	T396A	probably benign	Het
Zfp106	A	T	2: 120,344,096 (GRCm39)		probably null	Het
Zfp668	T	C	7: 127,465,654 (GRCm39)		probably null	Het
Zfp809	A	T	9: 22,150,027 (GRCm39)	R175*	probably null	Het

Other mutations in Gpr68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02368:Gpr68	APN	12	100,845,026 (GRCm39)	missense	probably damaging	1.00
R0581:Gpr68	UTSW	12	100,844,815 (GRCm39)	missense	probably damaging	1.00
R1800:Gpr68	UTSW	12	100,845,167 (GRCm39)	missense	probably damaging	1.00
R1819:Gpr68	UTSW	12	100,844,662 (GRCm39)	missense	possibly damaging	0.55
R4029:Gpr68	UTSW	12	100,845,475 (GRCm39)	missense	probably damaging	1.00
R4030:Gpr68	UTSW	12	100,845,475 (GRCm39)	missense	probably damaging	1.00
R4431:Gpr68	UTSW	12	100,865,650 (GRCm39)	unclassified	probably benign
R5000:Gpr68	UTSW	12	100,844,596 (GRCm39)	missense	probably benign	0.04
R5770:Gpr68	UTSW	12	100,845,080 (GRCm39)	missense	probably benign	0.00
R6812:Gpr68	UTSW	12	100,844,670 (GRCm39)	missense	probably damaging	1.00
R7217:Gpr68	UTSW	12	100,845,058 (GRCm39)	missense	possibly damaging	0.91
R7567:Gpr68	UTSW	12	100,844,623 (GRCm39)	missense	probably benign
R7814:Gpr68	UTSW	12	100,845,302 (GRCm39)	missense	probably damaging	0.99
R7869:Gpr68	UTSW	12	100,845,497 (GRCm39)	missense	probably benign	0.37
R7899:Gpr68	UTSW	12	100,844,707 (GRCm39)	missense	probably damaging	1.00
R8690:Gpr68	UTSW	12	100,845,292 (GRCm39)	missense	probably benign	0.25
X0018:Gpr68	UTSW	12	100,845,128 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AAGATGACCACGGTGCTGAG -3'
(R):5'- GAACATTTACATCAGCGTGGG -3'

Sequencing Primer
(F):5'- AGCCGCTGAATCTGGTCCTTG -3'
(R):5'- CGTGGGCTTCCTCTGCTG -3'

Posted On

2014-06-30