Mutagenetix > Incidental Mutation

Incidental Mutation 'R6363:Gpr171'

512567

Institutional Source

Beutler Lab

Gene Symbol

Gpr171

Ensembl Gene

ENSMUSG00000050075

Gene Name

G protein-coupled receptor 171

Synonyms

H963, F730001G15Rik

MMRRC Submission

044513-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6363 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59003869-59009242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59005313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 154 (I154T)

Ref Sequence

ENSEMBL: ENSMUSP00000082115 (fasta)

Gene Model

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

AlphaFold

Q8BG55

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

possibly damaging
Transcript: ENSMUST00000085040
AA Change: I154T

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000082115
Gene: ENSMUSG00000050075
AA Change: I154T

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

0.1285

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	A	G	4: 111,423,982 (GRCm39)		probably benign	Het
Antxrl	G	T	14: 33,791,244 (GRCm39)	C379F	probably damaging	Het
Camsap3	T	C	8: 3,651,971 (GRCm39)	C256R	probably damaging	Het
Ccdc33	T	C	9: 58,021,618 (GRCm39)	E254G	probably benign	Het
Ccndbp1	C	T	2: 120,843,454 (GRCm39)	P282L	probably damaging	Het
Col5a1	C	T	2: 27,818,207 (GRCm39)	T144I	unknown	Het
Csmd2	A	T	4: 128,294,172 (GRCm39)	H1167L	probably benign	Het
Ctsk	A	T	3: 95,408,862 (GRCm39)	T82S	probably damaging	Het
Cyp3a41b	A	T	5: 145,507,197 (GRCm39)	F248I	probably damaging	Het
Dchs1	A	G	7: 105,407,679 (GRCm39)	I2051T	probably benign	Het
Dnah17	A	G	11: 118,001,331 (GRCm39)	F871L	probably benign	Het
Eif2b4	A	G	5: 31,348,583 (GRCm39)	V210A	probably damaging	Het
Eral1	A	G	11: 77,965,143 (GRCm39)	I385T	probably damaging	Het
Ercc8	T	C	13: 108,320,404 (GRCm39)	L330P	probably damaging	Het
Etfa	A	G	9: 55,407,417 (GRCm39)	V24A	probably damaging	Het
Fcrl1	A	T	3: 87,292,475 (GRCm39)	I156F	probably damaging	Het
Gm7298	A	G	6: 121,765,565 (GRCm39)	Y1465C	probably damaging	Het
Gpr17	A	G	18: 32,080,625 (GRCm39)	L146P	probably damaging	Het
Hid1	T	A	11: 115,243,422 (GRCm39)	Y542F	probably damaging	Het
Hspa8	T	C	9: 40,714,361 (GRCm39)	V219A	probably damaging	Het
Klhl24	C	T	16: 19,938,933 (GRCm39)	T496I	possibly damaging	Het
Krtcap2	T	C	3: 89,156,413 (GRCm39)	S64P	probably damaging	Het
Msh3	C	A	13: 92,349,032 (GRCm39)	D1066Y	probably damaging	Het
Naaladl2	C	T	3: 24,389,481 (GRCm39)	G323R	possibly damaging	Het
Nbas	A	G	12: 13,532,577 (GRCm39)	T1762A	probably benign	Het
Nr4a1	C	T	15: 101,171,996 (GRCm39)	R557C	probably damaging	Het
Ogfrl1	T	A	1: 23,409,194 (GRCm39)	H344L	probably benign	Het
Or13a25	T	A	7: 140,247,995 (GRCm39)	F265Y	possibly damaging	Het
Or5a1	T	A	19: 12,097,530 (GRCm39)	H182L	possibly damaging	Het
Or5p55	A	G	7: 107,566,957 (GRCm39)	M118V	possibly damaging	Het
Or9k7	A	C	10: 130,046,906 (GRCm39)	V31G	possibly damaging	Het
Orm2	G	A	4: 63,280,841 (GRCm39)		probably null	Het
Patj	T	A	4: 98,320,097 (GRCm39)	S455T	probably benign	Het
Pdgfra	G	T	5: 75,331,497 (GRCm39)	V336L	possibly damaging	Het
Prkaa1	T	C	15: 5,206,437 (GRCm39)	L431S	probably damaging	Het
Ptgfrn	A	G	3: 100,952,894 (GRCm39)	V780A	possibly damaging	Het
Rb1	A	T	14: 73,525,081 (GRCm39)	V184E	probably benign	Het
Rev1	T	A	1: 38,110,570 (GRCm39)	H560L	probably damaging	Het
Serpinb13	A	T	1: 106,928,504 (GRCm39)	R375*	probably null	Het
Slc8a2	C	A	7: 15,867,970 (GRCm39)	D67E	probably benign	Het
Sos2	A	T	12: 69,678,885 (GRCm39)	N307K	probably benign	Het
Srgap2	G	A	1: 131,226,206 (GRCm39)	R36W	probably damaging	Het
Tas2r119	G	T	15: 32,178,034 (GRCm39)	W200L	possibly damaging	Het
Tep1	T	G	14: 51,062,005 (GRCm39)	K2575T	probably benign	Het
Ttc36	T	A	9: 44,710,936 (GRCm39)	R131S	probably damaging	Het
Ttyh3	A	T	5: 140,620,979 (GRCm39)	L195Q	probably damaging	Het
Uba7	G	A	9: 107,857,382 (GRCm39)		probably null	Het
Utp20	A	C	10: 88,592,942 (GRCm39)	V2249G	probably damaging	Het
Wwc2	A	T	8: 48,340,197 (GRCm39)		probably null	Het
Zdhhc21	A	T	4: 82,765,911 (GRCm39)	V8D	probably damaging	Het
Zfp719	A	G	7: 43,239,290 (GRCm39)	T293A	probably benign	Het

Other mutations in Gpr171

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01808:Gpr171	APN	3	59,005,572 (GRCm39)	missense	probably damaging	1.00
IGL02635:Gpr171	APN	3	59,005,017 (GRCm39)	missense	probably benign	0.04
IGL02858:Gpr171	APN	3	59,005,288 (GRCm39)	missense	probably benign	0.26
R1491:Gpr171	UTSW	3	59,005,016 (GRCm39)	missense	probably benign	0.01
R1539:Gpr171	UTSW	3	59,005,142 (GRCm39)	missense	possibly damaging	0.50
R1819:Gpr171	UTSW	3	59,005,341 (GRCm39)	missense	probably benign	0.02
R2255:Gpr171	UTSW	3	59,005,628 (GRCm39)	missense	probably benign	0.01
R3721:Gpr171	UTSW	3	59,005,091 (GRCm39)	missense	possibly damaging	0.95
R3856:Gpr171	UTSW	3	59,005,506 (GRCm39)	missense	probably damaging	0.96
R4259:Gpr171	UTSW	3	59,004,948 (GRCm39)	missense	probably damaging	1.00
R4749:Gpr171	UTSW	3	59,004,887 (GRCm39)	missense	probably benign	0.11
R4816:Gpr171	UTSW	3	59,005,517 (GRCm39)	missense	probably damaging	1.00
R4972:Gpr171	UTSW	3	59,005,386 (GRCm39)	missense	probably damaging	1.00
R6414:Gpr171	UTSW	3	59,005,544 (GRCm39)	missense	probably damaging	0.97
R7076:Gpr171	UTSW	3	59,005,577 (GRCm39)	missense	probably damaging	0.98
R7290:Gpr171	UTSW	3	59,005,147 (GRCm39)	missense	probably benign	0.00
R7404:Gpr171	UTSW	3	59,005,622 (GRCm39)	missense	probably damaging	0.99
R7447:Gpr171	UTSW	3	59,005,860 (GRCm39)	critical splice acceptor site	probably null
R7721:Gpr171	UTSW	3	59,005,320 (GRCm39)	missense	probably benign	0.40
R8120:Gpr171	UTSW	3	59,005,406 (GRCm39)	missense	probably damaging	0.96
R8548:Gpr171	UTSW	3	59,005,400 (GRCm39)	missense	probably damaging	1.00
R8897:Gpr171	UTSW	3	59,005,116 (GRCm39)	missense	probably benign
R9126:Gpr171	UTSW	3	59,005,488 (GRCm39)	missense	probably damaging	1.00
R9339:Gpr171	UTSW	3	59,005,362 (GRCm39)	missense	probably damaging	1.00
R9411:Gpr171	UTSW	3	59,005,311 (GRCm39)	nonsense	probably null
R9418:Gpr171	UTSW	3	59,004,999 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GCTGATTTCACACTTGGATAGTTTG -3'
(R):5'- AAGTGACAGCCTGCCTCATC -3'

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

Posted On

2018-04-27