Mutagenetix > Incidental Mutation

Incidental Mutation 'R7721:Gpr171'

595210

Institutional Source

Beutler Lab

Gene Symbol

Gpr171

Ensembl Gene

ENSMUSG00000050075

Gene Name

G protein-coupled receptor 171

Synonyms

H963, F730001G15Rik

MMRRC Submission

045777-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7721 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59003869-59009242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59005320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 152 (I152L)

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

probably benign
Transcript: ENSMUST00000085040
AA Change: I152L

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000082115
Gene: ENSMUSG00000050075
AA Change: I152L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	C	5: 121,784,929 (GRCm39)		probably null	Het
Adamtsl3	T	G	7: 82,255,728 (GRCm39)	M1580R	possibly damaging	Het
Alg9	T	C	9: 50,687,942 (GRCm39)	I78T	probably damaging	Het
Ankmy2	G	T	12: 36,207,143 (GRCm39)		probably benign	Het
Ankrd11	G	T	8: 123,621,498 (GRCm39)	L785M	probably damaging	Het
Atrnl1	T	A	19: 57,684,763 (GRCm39)	D796E	probably benign	Het
C1s2	A	G	6: 124,607,017 (GRCm39)	V277A	possibly damaging	Het
Ccdc121rt3	A	G	5: 112,503,383 (GRCm39)	I107T	probably benign	Het
Cldn15	A	G	5: 136,997,015 (GRCm39)	M19V	probably benign	Het
Cldn23	T	G	8: 36,293,417 (GRCm39)	S24R	possibly damaging	Het
Cnr1	T	A	4: 33,944,416 (GRCm39)	I268N	probably damaging	Het
Csf2ra	A	T	19: 61,215,024 (GRCm39)	W147R	probably damaging	Het
Ctsb	G	T	14: 63,370,765 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,088,874 (GRCm39)	M34T	probably benign	Het
Dmtf1	T	C	5: 9,176,564 (GRCm39)	I463V	probably damaging	Het
Dnah7a	T	A	1: 53,670,842 (GRCm39)	D470V	probably benign	Het
Dtx4	A	G	19: 12,459,500 (GRCm39)	S435P	probably benign	Het
Ear2	T	A	14: 44,340,495 (GRCm39)	M51K	probably damaging	Het
Efcab3	T	A	11: 104,615,366 (GRCm39)	L711*	probably null	Het
Elmo1	T	A	13: 20,464,973 (GRCm39)		probably null	Het
Faf1	T	A	4: 109,593,794 (GRCm39)	I124N	probably damaging	Het
Gkap1	A	C	13: 58,384,799 (GRCm39)		probably null	Het
Glipr2	T	C	4: 43,957,770 (GRCm39)	S4P	probably benign	Het
Gm38119	A	T	3: 92,645,337 (GRCm39)	C86S	unknown	Het
Hes7	T	A	11: 69,012,352 (GRCm39)	T9S	unknown	Het
Homer3	T	C	8: 70,743,662 (GRCm39)	V180A	probably benign	Het
Irx1	T	A	13: 72,108,176 (GRCm39)	M169L	probably benign	Het
Kap	A	G	6: 133,828,690 (GRCm39)		probably null	Het
Mgat5b	A	G	11: 116,857,627 (GRCm39)	M2V		Het
Mob4	C	T	1: 55,187,479 (GRCm39)	Q76*	probably null	Het
Or10w3	T	A	19: 13,704,207 (GRCm39)	I194N	possibly damaging	Het
Or8b47	A	T	9: 38,435,013 (GRCm39)		probably null	Het
Or8g26	A	G	9: 39,096,056 (GRCm39)	D191G	probably benign	Het
Pate14	C	T	9: 36,549,159 (GRCm39)	G34R	possibly damaging	Het
Pcdha9	A	T	18: 37,132,689 (GRCm39)	Q586L	probably benign	Het
Pgk2	T	A	17: 40,518,409 (GRCm39)	I340F	probably benign	Het
Prex1	G	A	2: 166,419,810 (GRCm39)	Q1289*	probably null	Het
Prr22	A	G	17: 57,078,819 (GRCm39)	D324G	possibly damaging	Het
Rab2b	A	T	14: 52,501,217 (GRCm39)	S201T	probably benign	Het
Rdh1	T	A	10: 127,596,121 (GRCm39)		probably null	Het
Rhbdl1	G	T	17: 26,055,123 (GRCm39)	N82K	probably benign	Het
Rspo1	C	A	4: 124,885,210 (GRCm39)	Q29K	possibly damaging	Het
Rtp3	A	T	9: 110,814,948 (GRCm39)	Y472*	probably null	Het
Senp5	T	A	16: 31,809,252 (GRCm39)	M1L	unknown	Het
Slfn4	A	T	11: 83,078,389 (GRCm39)		probably null	Het
Stab1	A	G	14: 30,863,413 (GRCm39)	V2091A	possibly damaging	Het
Stk32c	A	G	7: 138,768,069 (GRCm39)	S71P	possibly damaging	Het
Tpr	A	G	1: 150,320,180 (GRCm39)	T2243A	probably benign	Het
Tubgcp6	A	T	15: 88,985,604 (GRCm39)	N1544K	probably damaging	Het
Uqcc1	T	C	2: 155,700,066 (GRCm39)	N202S	probably benign	Het
Vmn2r18	C	T	5: 151,510,158 (GRCm39)	E72K	possibly damaging	Het
Zfp654	C	A	16: 64,606,570 (GRCm39)	C3F	probably damaging	Het
Zfp804b	T	C	5: 6,821,263 (GRCm39)	E600G	possibly damaging	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
R6363:Gpr171	UTSW	3	59,005,313 (GRCm39)	missense	possibly damaging	0.91
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
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'- CAGAGCTGATTTCACACTTGG -3'
(R):5'- GACAGCCTGCCTCATCTACATC -3'

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

Posted On

2019-11-12