Mutagenetix > Incidental Mutation

Incidental Mutation 'R8065:Gpr87'

619934

Institutional Source

Beutler Lab

Gene Symbol

Gpr87

Ensembl Gene

ENSMUSG00000051431

Gene Name

G protein-coupled receptor 87

Synonyms

MMRRC Submission

067501-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8065 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59178923-59195104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59179887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 66 (I66F)

Ref Sequence

ENSEMBL: ENSMUSP00000143683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040325] [ENSMUST00000056898] [ENSMUST00000164225] [ENSMUST00000199659] [ENSMUST00000200095]

AlphaFold

Q99MT7

Predicted Effect

probably benign
Transcript: ENSMUST00000040325

SMART Domains

Protein: ENSMUSP00000042269
Gene: ENSMUSG00000056476

Domain	Start	End	E-Value	Type
Med12	101	161	1.71e-24	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:Med12-LCEWAV	282	730	2.6e-207	PFAM
low complexity region	744	758	N/A	INTRINSIC
low complexity region	853	872	N/A	INTRINSIC
low complexity region	1455	1466	N/A	INTRINSIC
low complexity region	1728	1742	N/A	INTRINSIC
low complexity region	1769	1783	N/A	INTRINSIC
Pfam:Med12-PQL	1803	2029	2.3e-14	PFAM
low complexity region	2055	2076	N/A	INTRINSIC
low complexity region	2083	2101	N/A	INTRINSIC
low complexity region	2116	2136	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000056898
AA Change: I67F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059272
Gene: ENSMUSG00000051431
AA Change: I67F

Domain	Start	End	E-Value	Type
Pfam:7tm_1	60	315	1.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164225

SMART Domains

Protein: ENSMUSP00000127038
Gene: ENSMUSG00000056476

Domain	Start	End	E-Value	Type
Med12	101	161	1.71e-24	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:Med12-LCEWAV	283	765	5e-187	PFAM
low complexity region	779	793	N/A	INTRINSIC
low complexity region	888	907	N/A	INTRINSIC
low complexity region	1490	1501	N/A	INTRINSIC
low complexity region	1763	1777	N/A	INTRINSIC
low complexity region	1804	1818	N/A	INTRINSIC
Pfam:Med12-PQL	1840	2063	9.7e-66	PFAM
low complexity region	2090	2111	N/A	INTRINSIC
low complexity region	2118	2136	N/A	INTRINSIC
low complexity region	2151	2171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199659

SMART Domains

Protein: ENSMUSP00000142903
Gene: ENSMUSG00000056476

Domain	Start	End	E-Value	Type
Med12	101	161	1.71e-24	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:Med12-LCEWAV	282	765	5.5e-209	PFAM
low complexity region	779	793	N/A	INTRINSIC
low complexity region	888	907	N/A	INTRINSIC
low complexity region	1490	1501	N/A	INTRINSIC
low complexity region	1761	1775	N/A	INTRINSIC
low complexity region	1802	1816	N/A	INTRINSIC
Pfam:Med12-PQL	1836	2062	1.7e-15	PFAM
low complexity region	2088	2130	N/A	INTRINSIC
low complexity region	2144	2164	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000200095
AA Change: I66F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143683
Gene: ENSMUSG00000051431
AA Change: I66F

Domain	Start	End	E-Value	Type
Pfam:7tm_1	59	314	3.5e-37	PFAM

Meta Mutation Damage Score

0.3965

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor and is located in a cluster of G protein-couple receptor genes on chromosome 3. The encoded protein has been shown to be overexpressed in lung squamous cell carcinoma (PMID:18057535) and regulated by p53 (PMID:19602589). [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased mean vertebral and femoral bone measurements. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cap2	T	C	13: 46,637,861 (GRCm38)	V280A	probably damaging	Het
Cbx7	A	T	15: 79,933,898 (GRCm38)	V1D	unknown	Het
Chodl	A	T	16: 78,946,713 (GRCm38)	L229F	probably damaging	Het
Depdc5	C	A	5: 32,895,908 (GRCm38)	N197K	possibly damaging	Het
Diaph3	A	T	14: 87,037,495 (GRCm38)	L175Q	probably damaging	Het
Dlat	A	T	9: 50,657,849 (GRCm38)	M218K	possibly damaging	Het
Dnaic1	T	A	4: 41,614,258 (GRCm38)	D311E	probably damaging	Het
Dpp10	A	G	1: 123,352,660 (GRCm38)	S646P	probably benign	Het
Ebf1	G	A	11: 44,620,547 (GRCm38)	V90M	probably benign	Het
Efhd1	C	T	1: 87,264,591 (GRCm38)	P48S	probably benign	Het
Fbxl16	G	A	17: 25,817,983 (GRCm38)	V313I	probably damaging	Het
Flrt2	A	G	12: 95,780,774 (GRCm38)	T629A	probably benign	Het
Hmmr	G	A	11: 40,721,672 (GRCm38)	S206F	probably damaging	Het
Hsd17b4	A	T	18: 50,170,752 (GRCm38)	I431F	possibly damaging	Het
Iba57	T	C	11: 59,163,260 (GRCm38)		probably benign	Het
Ibtk	A	C	9: 85,720,863 (GRCm38)	S696R	probably benign	Het
Igkv11-125	C	A	6: 67,913,830 (GRCm38)	T44N	probably benign	Het
Itih2	T	A	2: 10,123,483 (GRCm38)	I136F	probably damaging	Het
Itpr3	T	A	17: 27,110,862 (GRCm38)	D1543E	probably benign	Het
Ldlr	T	A	9: 21,737,945 (GRCm38)	C339S	probably damaging	Het
Myh2	G	A	11: 67,181,344 (GRCm38)	E633K	probably null	Het
Myl10	G	C	5: 136,697,971 (GRCm38)	V70L	probably benign	Het
Mylk	A	T	16: 34,972,019 (GRCm38)	E1570V	probably benign	Het
Myo15b	G	A	11: 115,887,943 (GRCm38)		probably null	Het
N4bp2	T	A	5: 65,807,296 (GRCm38)	L896H	probably damaging	Het
Naip2	A	T	13: 100,189,222 (GRCm38)	S59R	probably damaging	Het
Ndc1	T	A	4: 107,390,398 (GRCm38)	S468T	probably benign	Het
Ndst3	T	C	3: 123,601,445 (GRCm38)	N512S	probably damaging	Het
Olfr1138	T	A	2: 87,737,803 (GRCm38)	I174F	probably damaging	Het
Olfr65	A	G	7: 103,906,403 (GRCm38)		probably benign	Het
Plekhn1	T	C	4: 156,228,240 (GRCm38)	I54V	possibly damaging	Het
Polr3c	T	C	3: 96,715,652 (GRCm38)	E350G	probably null	Het
Pskh1	T	G	8: 105,929,855 (GRCm38)	S388A	possibly damaging	Het
Pum1	T	C	4: 130,751,525 (GRCm38)	V486A	possibly damaging	Het
Rin2	T	G	2: 145,861,057 (GRCm38)	S558A	probably damaging	Het
Ripk4	A	T	16: 97,763,537 (GRCm38)	V58D	probably damaging	Het
Slc17a3	A	G	13: 23,858,087 (GRCm38)	R491G	unknown	Het
Smyd3	A	G	1: 179,410,463 (GRCm38)	M113T	possibly damaging	Het
Ssh2	A	G	11: 77,441,985 (GRCm38)	R431G	probably damaging	Het
Timm22	G	A	11: 76,414,105 (GRCm38)	D190N	probably damaging	Het
Ube2g1	G	A	11: 72,677,765 (GRCm38)	G103D	probably benign	Het
Zbtb5	A	T	4: 44,994,972 (GRCm38)	S137R	probably benign	Het
Zfp105	A	G	9: 122,925,129 (GRCm38)	T8A	probably benign	Het
Zfp286	A	T	11: 62,753,519 (GRCm38)	I192K	unknown	Het
Zfp942	T	C	17: 21,930,410 (GRCm38)	Y38C	probably damaging	Het
Zfpm1	T	C	8: 122,335,584 (GRCm38)	S461P	probably benign	Het

Other mutations in Gpr87

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Gpr87	APN	3	59,179,790 (GRCm38)	missense	probably damaging	1.00
IGL02309:Gpr87	APN	3	59,179,554 (GRCm38)	missense	possibly damaging	0.74
IGL02614:Gpr87	APN	3	59,179,317 (GRCm38)	missense	probably damaging	1.00
R0097:Gpr87	UTSW	3	59,179,085 (GRCm38)	missense	probably damaging	1.00
R0097:Gpr87	UTSW	3	59,179,085 (GRCm38)	missense	probably damaging	1.00
R0113:Gpr87	UTSW	3	59,179,511 (GRCm38)	missense	possibly damaging	0.86
R1801:Gpr87	UTSW	3	59,179,392 (GRCm38)	missense	possibly damaging	0.92
R2213:Gpr87	UTSW	3	59,179,044 (GRCm38)	missense	probably damaging	0.99
R2698:Gpr87	UTSW	3	59,179,166 (GRCm38)	missense	probably damaging	1.00
R5459:Gpr87	UTSW	3	59,179,727 (GRCm38)	missense	possibly damaging	0.89
R5490:Gpr87	UTSW	3	59,179,326 (GRCm38)	missense	probably damaging	0.99
R5963:Gpr87	UTSW	3	59,179,269 (GRCm38)	nonsense	probably null
R6189:Gpr87	UTSW	3	59,179,229 (GRCm38)	missense	probably damaging	1.00
R6251:Gpr87	UTSW	3	59,179,107 (GRCm38)	missense	probably damaging	0.99
R7863:Gpr87	UTSW	3	59,179,896 (GRCm38)	missense	probably damaging	1.00
R8008:Gpr87	UTSW	3	59,180,045 (GRCm38)	missense	probably benign
R8067:Gpr87	UTSW	3	59,179,887 (GRCm38)	missense	probably damaging	1.00
R8096:Gpr87	UTSW	3	59,179,808 (GRCm38)	missense	possibly damaging	0.70
R8141:Gpr87	UTSW	3	59,179,599 (GRCm38)	missense	probably damaging	1.00
R8326:Gpr87	UTSW	3	59,194,974 (GRCm38)	start gained	probably benign
R9326:Gpr87	UTSW	3	59,179,188 (GRCm38)	missense	probably damaging	1.00
R9485:Gpr87	UTSW	3	59,179,584 (GRCm38)	missense	possibly damaging	0.85
Z1177:Gpr87	UTSW	3	59,180,070 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCACCAAAGGGCTTTACCAC -3'
(R):5'- TGGCTGTCCCTAATGTGAATG -3'

Sequencing Primer
(F):5'- AAGGGCTTTACCACCTTTAGATACCG -3'
(R):5'- GCTGTCCCTAATGTGAATGTTTCTAC -3'

Posted On

2020-01-23