Mutagenetix > Incidental Mutation

Incidental Mutation 'R9418:Gpr171'

712154

Institutional Source

Beutler Lab

Gene Symbol

Gpr171

Ensembl Gene

ENSMUSG00000050075

Gene Name

G protein-coupled receptor 171

Synonyms

H963, F730001G15Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9418 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59003869-59009242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59004999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 259 (T259A)

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: T259A

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082115
Gene: ENSMUSG00000050075
AA Change: T259A

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: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	A	5: 138,645,317 (GRCm39)	G401R	probably damaging	Het
Adgrf5	G	A	17: 43,737,864 (GRCm39)	V233I	probably benign	Het
Ankrd34b	A	G	13: 92,575,232 (GRCm39)	K155E	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc141	A	T	2: 76,871,766 (GRCm39)	H839Q	probably benign	Het
Ccdc18	T	C	5: 108,303,669 (GRCm39)	L251P	probably damaging	Het
Ciita	G	T	16: 10,319,765 (GRCm39)	E63*	probably null	Het
Cmya5	T	C	13: 93,226,209 (GRCm39)	T2960A	probably benign	Het
Cyp2b13	A	T	7: 25,761,110 (GRCm39)	I56F	probably benign	Het
Dcaf4	A	T	12: 83,586,606 (GRCm39)	Y422F	probably benign	Het
Dhrs7b	A	T	11: 60,746,594 (GRCm39)	I228F	probably damaging	Het
Drosha	T	C	15: 12,885,167 (GRCm39)	S853P	probably benign	Het
Dzank1	C	T	2: 144,355,408 (GRCm39)	V96M	probably damaging	Het
Fap	G	A	2: 62,385,181 (GRCm39)	Q65*	probably null	Het
Fbxo47	T	A	11: 97,747,067 (GRCm39)	N333I	possibly damaging	Het
Fem1al	C	T	11: 29,774,632 (GRCm39)	C275Y	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Hectd2	T	A	19: 36,589,574 (GRCm39)	S595T	probably benign	Het
Hexa	A	G	9: 59,464,592 (GRCm39)	I161V	probably benign	Het
Hira	A	G	16: 18,770,025 (GRCm39)	T777A	probably benign	Het
Il2ra	T	C	2: 11,689,203 (GRCm39)	F244S	possibly damaging	Het
Kcne3	A	G	7: 99,833,385 (GRCm39)	M1V	probably null	Het
Kcnj1	G	A	9: 32,308,203 (GRCm39)	C209Y	probably damaging	Het
Kcnj2	A	T	11: 110,963,357 (GRCm39)	I250F	probably damaging	Het
Krt26	C	T	11: 99,228,741 (GRCm39)		probably benign	Het
Leng9	T	C	7: 4,151,354 (GRCm39)	T441A	probably benign	Het
Lingo2	T	C	4: 35,709,035 (GRCm39)	H315R	probably benign	Het
Lrrc7	A	T	3: 157,908,023 (GRCm39)	S266T	possibly damaging	Het
Mab21l4	A	C	1: 93,087,710 (GRCm39)	L48V	probably benign	Het
Mib1	A	G	18: 10,812,064 (GRCm39)	D987G	probably damaging	Het
Mrc1	T	C	2: 14,234,358 (GRCm39)	V12A	probably benign	Het
Mta1	G	T	12: 113,094,987 (GRCm39)	R415L	probably damaging	Het
Mug2	T	A	6: 122,017,700 (GRCm39)	V479E	probably benign	Het
Mylk3	C	A	8: 86,091,444 (GRCm39)	M120I	possibly damaging	Het
Or13c7c	C	T	4: 43,835,879 (GRCm39)	V204M	probably benign	Het
Or2v2	G	T	11: 49,004,484 (GRCm39)	P23Q	probably benign	Het
Otog	A	T	7: 45,938,024 (GRCm39)	Q1911L	probably benign	Het
Pcdh20	C	T	14: 88,705,455 (GRCm39)	C615Y	probably benign	Het
Pde1b	A	G	15: 103,433,464 (GRCm39)	H294R	probably damaging	Het
Phldb3	A	T	7: 24,328,354 (GRCm39)	I633F	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pip5k1b	A	G	19: 24,327,581 (GRCm39)	V425A	probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rab23	A	T	1: 33,777,424 (GRCm39)	E179D	probably benign	Het
Slc12a6	C	A	2: 112,174,555 (GRCm39)	L522I		Het
Slc22a19	A	T	19: 7,660,210 (GRCm39)	M400K	possibly damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Spsb2	C	A	6: 124,786,282 (GRCm39)	A5D	probably damaging	Het
Tgfb1	A	G	7: 25,391,952 (GRCm39)	E169G	probably damaging	Het
Tm4sf5	T	A	11: 70,401,134 (GRCm39)	C117S	probably damaging	Het
Tmcc3	T	C	10: 94,415,087 (GRCm39)	L294P	possibly damaging	Het
Ubc	T	C	5: 125,464,466 (GRCm39)	Y287C	probably damaging	Het
Uroc1	G	T	6: 90,313,880 (GRCm39)	V56F	probably benign	Het
Ush1c	A	T	7: 45,872,292 (GRCm39)	F237I	probably damaging	Het
Xxylt1	A	T	16: 30,826,624 (GRCm39)	Y230*	probably null	Het
Zfp467	A	T	6: 48,415,990 (GRCm39)	C221S	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AAGGACTAACGTGCAAAGCCTG -3'
(R):5'- TGATATCCAACTTCCTTGCAATCAG -3'

Sequencing Primer
(F):5'- CAAAGCCTGCATTTTACACATCATTC -3'
(R):5'- TCCTTGCAATCAGACAACTCTATAG -3'

Posted On

2022-05-16