Mutagenetix > Incidental Mutations

Incidental Mutation 'R1819:Gpr171'

204681

Institutional Source

Beutler Lab

Gene Symbol

Gpr171

Ensembl Gene

ENSMUSG00000050075

Gene Name

G protein-coupled receptor 171

Synonyms

F730001G15Rik, H963

MMRRC Submission

039847-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R1819 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59096448-59101821 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59097920 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 145 (I145V)

Ref Sequence

ENSEMBL: ENSMUSP00000082115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029393] [ENSMUST00000040325] [ENSMUST00000040846] [ENSMUST00000085040] [ENSMUST00000164225] [ENSMUST00000199659]

Predicted Effect

probably benign
Transcript: ENSMUST00000029393

SMART Domains

Protein: ENSMUSP00000029393
Gene: ENSMUSG00000056476

Domain	Start	End	E-Value	Type
Med12	101	172	1.54e-17	SMART
low complexity region	227	235	N/A	INTRINSIC
low complexity region	280	289	N/A	INTRINSIC
Pfam:Med12-LCEWAV	293	737	1.6e-200	PFAM

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 benign
Transcript: ENSMUST00000040846

SMART Domains

Protein: ENSMUSP00000041859
Gene: ENSMUSG00000056476

Domain	Start	End	E-Value	Type
Med12	101	172	1.54e-17	SMART
low complexity region	227	235	N/A	INTRINSIC
low complexity region	280	289	N/A	INTRINSIC
Pfam:Med12-LCEWAV	293	728	9e-201	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085040
AA Change: I145V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000082115
Gene: ENSMUSG00000050075
AA Change: I145V

Domain	Start	End	E-Value	Type
Pfam:7tm_1	31	285	4e-26	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

Meta Mutation Damage Score

0.0866

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

100% (91/91)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,981,056		probably null	Het
Abhd17a	T	C	10: 80,586,636	T71A	probably benign	Het
Acad11	G	A	9: 104,114,539		probably null	Het
Adgrf1	C	A	17: 43,310,033	T387K	probably benign	Het
Afdn	A	G	17: 13,850,848	T783A	probably damaging	Het
Akap13	T	A	7: 75,608,705	M359K	probably benign	Het
Asxl3	A	T	18: 22,522,376	N1148Y	probably damaging	Het
Atl1	T	C	12: 69,963,300	S547P	probably benign	Het
Bace1	A	T	9: 45,857,162	T252S	possibly damaging	Het
BC034090	A	G	1: 155,225,829	S230P	possibly damaging	Het
Bnc2	A	G	4: 84,291,874	F778L	possibly damaging	Het
Capn2	T	A	1: 182,472,597	K609N	probably benign	Het
Capn8	T	A	1: 182,598,826	I242N	probably damaging	Het
Car9	G	T	4: 43,512,439		probably null	Het
Ccdc180	A	G	4: 45,926,195	E1135G	possibly damaging	Het
Ccdc181	C	T	1: 164,282,478	Q385*	probably null	Het
Cdh10	G	T	15: 18,991,965	G437*	probably null	Het
Ceacam1	T	A	7: 25,463,860	Q316L	possibly damaging	Het
Cecr2	A	G	6: 120,731,267	T77A	probably damaging	Het
Cers4	T	A	8: 4,521,232	M267K	probably benign	Het
Csmd3	T	C	15: 47,753,735	D1930G	possibly damaging	Het
Cyp2j11	A	T	4: 96,297,739	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,315,636	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,432,507	I420V	probably damaging	Het
Dnah5	T	A	15: 28,246,400	L628*	probably null	Het
Dnah7a	A	C	1: 53,559,148	D1409E	probably benign	Het
Dus2	T	A	8: 106,051,848	W377R	probably damaging	Het
E330034G19Rik	A	G	14: 24,298,013	D111G	probably damaging	Het
Erich4	C	T	7: 25,615,290	R66Q	possibly damaging	Het
Fcgbp	G	T	7: 28,085,283	R256L	probably benign	Het
Fdxr	A	T	11: 115,276,104	F53Y	probably damaging	Het
Fkbp10	G	T	11: 100,415,889	A36S	probably benign	Het
Foxo3	A	T	10: 42,197,611	D84E	probably benign	Het
Gin1	A	G	1: 97,785,226		probably null	Het
Gli3	C	T	13: 15,725,792	Q1255*	probably null	Het
Gm4847	T	A	1: 166,638,219	H267L	probably damaging	Het
Gpr68	T	A	12: 100,878,403	H294L	possibly damaging	Het
Gys2	T	C	6: 142,461,186	E148G	probably damaging	Het
Heatr5b	T	C	17: 78,791,511	D1320G	probably damaging	Het
Ifnlr1	G	T	4: 135,686,523		probably benign	Het
Ift88	G	A	14: 57,455,519	E392K	probably damaging	Het
Igsf9b	T	A	9: 27,311,593	S97T	probably damaging	Het
Il18rap	A	G	1: 40,531,527	I210V	probably benign	Het
Kcnj11	C	T	7: 46,099,156	G248S	probably benign	Het
Kif28	T	C	1: 179,705,754	K541E	possibly damaging	Het
Lilrb4a	A	G	10: 51,496,028	Y205C	probably damaging	Het
Lima1	T	A	15: 99,819,936	H63L	probably benign	Het
Lonrf3	A	G	X: 36,358,708	I687V	probably damaging	Het
Lrba	A	G	3: 86,542,634	T2099A	possibly damaging	Het
Morn5	C	T	2: 36,052,975	T29M	probably damaging	Het
Neurl1b	G	A	17: 26,438,700	R22H	probably benign	Het
Nr2e3	T	C	9: 59,943,437	I380V	probably damaging	Het
Oas1c	G	A	5: 120,808,735	A10V	possibly damaging	Het
Olfr395	T	C	11: 73,906,679	E271G	probably benign	Het
Olfr671	C	T	7: 104,975,398	V196I	probably benign	Het
P3h3	T	C	6: 124,854,932	T297A	probably benign	Het
Pdpk1	T	C	17: 24,110,904	K53E	probably damaging	Het
Plec	C	T	15: 76,179,906	R2056Q	probably damaging	Het
Plxna2	T	A	1: 194,790,186	N1079K	probably benign	Het
Prr12	G	C	7: 45,048,697		probably benign	Het
Psip1	A	G	4: 83,458,163	S480P	probably benign	Het
Ptpre	A	G	7: 135,668,993		probably benign	Het
Pvalb	A	C	15: 78,202,584	V44G	probably damaging	Het
Rab3c	T	G	13: 110,084,135	Q164P	possibly damaging	Het
Rubcn	T	C	16: 32,826,914	K703R	possibly damaging	Het
Setd7	T	G	3: 51,542,639	H122P	probably benign	Het
Slc26a8	A	T	17: 28,684,834	F19I	probably benign	Het
Slc6a14	A	G	X: 21,741,047	D625G	probably benign	Het
Snx6	C	T	12: 54,783,474	V67I	possibly damaging	Het
Syngr3	A	G	17: 24,687,722	F40L	possibly damaging	Het
Syt8	G	A	7: 142,438,234	G21R	possibly damaging	Het
Tagln	A	G	9: 45,930,840	F152L	probably benign	Het
Tcf12	G	A	9: 72,109,717	T36M	probably damaging	Het
Tdrd6	C	T	17: 43,626,551	S1202N	probably benign	Het
Tekt2	T	C	4: 126,323,736	K179E	probably damaging	Het
Tekt4	G	T	17: 25,473,811		probably null	Het
Tmprss5	G	T	9: 49,107,164	R98L	probably benign	Het
Tns1	G	T	1: 73,916,476		probably benign	Het
Tpcn1	A	C	5: 120,536,227		probably null	Het
Ttc6	T	C	12: 57,694,500		probably null	Het
Ttf1	A	G	2: 29,074,784	N706S	possibly damaging	Het
Washc4	C	T	10: 83,550,884	T124I	probably benign	Het
Wdr17	A	T	8: 54,690,124	S140T	probably benign	Het
Wdr19	A	T	5: 65,212,891	I123F	possibly damaging	Het
Zer1	C	T	2: 30,110,218	A317T	probably benign	Het
Zfp474	A	G	18: 52,638,800	D175G	probably damaging	Het
Zfp598	T	C	17: 24,681,130		probably benign	Het
Zfp646	G	A	7: 127,883,120	G1490S	probably benign	Het
Zranb3	A	T	1: 128,017,556		probably null	Het

Other mutations in Gpr171

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01808:Gpr171	APN	3	59098151	missense	probably damaging	1.00
IGL02635:Gpr171	APN	3	59097596	missense	probably benign	0.04
IGL02858:Gpr171	APN	3	59097867	missense	probably benign	0.26
R1491:Gpr171	UTSW	3	59097595	missense	probably benign	0.01
R1539:Gpr171	UTSW	3	59097721	missense	possibly damaging	0.50
R2255:Gpr171	UTSW	3	59098207	missense	probably benign	0.01
R3721:Gpr171	UTSW	3	59097670	missense	possibly damaging	0.95
R3856:Gpr171	UTSW	3	59098085	missense	probably damaging	0.96
R4259:Gpr171	UTSW	3	59097527	missense	probably damaging	1.00
R4749:Gpr171	UTSW	3	59097466	missense	probably benign	0.11
R4816:Gpr171	UTSW	3	59098096	missense	probably damaging	1.00
R4972:Gpr171	UTSW	3	59097965	missense	probably damaging	1.00
R6363:Gpr171	UTSW	3	59097892	missense	possibly damaging	0.91
R6414:Gpr171	UTSW	3	59098123	missense	probably damaging	0.97
R7076:Gpr171	UTSW	3	59098156	missense	probably damaging	0.98
R7290:Gpr171	UTSW	3	59097726	missense	probably benign	0.00
R7404:Gpr171	UTSW	3	59098201	missense	probably damaging	0.99
R7447:Gpr171	UTSW	3	59098439	critical splice acceptor site	probably null
R7721:Gpr171	UTSW	3	59097899	missense	probably benign	0.40
R8120:Gpr171	UTSW	3	59097985	missense	probably damaging	0.96
R8548:Gpr171	UTSW	3	59097979	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGAGCTGATTTCACACTTG -3'
(R):5'- TGACAGCCTGCCTCATCTAC -3'

Sequencing Primer
(F):5'- GCAGAGCTGATTTCACACTTGGATAG -3'
(R):5'- AGCCTGCCTCATCTACATCAATATG -3'

Posted On

2014-06-23