Mutagenetix > Incidental Mutation

Incidental Mutation 'R6047:Gpr179'

483350

Institutional Source

Beutler Lab

Gene Symbol

Gpr179

Ensembl Gene

ENSMUSG00000070337

Gene Name

G protein-coupled receptor 179

Synonyms

5330439C02Rik

MMRRC Submission

044215-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97222935-97242903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 97229242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 971 (P971Q)

Ref Sequence

ENSEMBL: ENSMUSP00000091474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093942]

AlphaFold

E9PY61

Predicted Effect

probably damaging
Transcript: ENSMUST00000093942
AA Change: P971Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: P971Q

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	28	41	N/A	INTRINSIC
EGF	281	357	1.91e1	SMART
Pfam:7tm_3	391	633	3.2e-40	PFAM
low complexity region	735	759	N/A	INTRINSIC
low complexity region	868	880	N/A	INTRINSIC
low complexity region	896	916	N/A	INTRINSIC
low complexity region	959	988	N/A	INTRINSIC
low complexity region	1107	1125	N/A	INTRINSIC
internal_repeat_2	1156	1467	1.99e-12	PROSPERO
internal_repeat_1	1235	1674	2.85e-27	PROSPERO
internal_repeat_2	1569	1879	1.99e-12	PROSPERO
internal_repeat_1	1756	2284	2.85e-27	PROSPERO

Meta Mutation Damage Score

0.1150

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (36/36)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit absence of b wave without retinal abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,856,066 (GRCm39)	I58T	probably damaging	Het
Adgrb2	G	T	4: 129,912,498 (GRCm39)	G1208C	probably damaging	Het
Antxrl	T	C	14: 33,775,433 (GRCm39)		probably benign	Het
Appl2	C	T	10: 83,448,765 (GRCm39)		probably null	Het
Bloc1s2	T	C	19: 44,130,629 (GRCm39)	I112V	possibly damaging	Het
Cblb	G	T	16: 51,932,611 (GRCm39)		probably null	Het
Cdk9	T	C	2: 32,598,285 (GRCm39)		probably null	Het
Dok7	G	A	5: 35,236,651 (GRCm39)	G206D	probably damaging	Het
Ftsj3	C	T	11: 106,143,144 (GRCm39)	R390H	probably damaging	Het
Hic1	A	T	11: 75,057,675 (GRCm39)	S405T	possibly damaging	Het
Ifngr1	T	C	10: 19,482,061 (GRCm39)	L217P	probably damaging	Het
Insrr	A	G	3: 87,711,483 (GRCm39)	K468E	probably damaging	Het
Lce1j	G	C	3: 92,696,503 (GRCm39)	R92G	unknown	Het
Lrp12	T	C	15: 39,735,463 (GRCm39)	E823G	probably damaging	Het
Lrp1b	A	G	2: 40,527,787 (GRCm39)	I98T	probably benign	Het
Mbd3l2	A	T	9: 18,356,212 (GRCm39)	H179L	possibly damaging	Het
Med24	A	T	11: 98,598,591 (GRCm39)	C691*	probably null	Het
Mical1	T	C	10: 41,357,703 (GRCm39)		probably null	Het
Msantd2	A	T	9: 37,434,738 (GRCm39)	Y326F	probably damaging	Het
Nfyc	T	A	4: 120,636,314 (GRCm39)		probably null	Het
Nrg3	T	A	14: 38,119,309 (GRCm39)		probably null	Het
Nt5c3	G	A	6: 56,859,964 (GRCm39)	S291L	probably damaging	Het
Pak4	A	G	7: 28,262,461 (GRCm39)	Y384H	probably benign	Het
Pdia5	T	C	16: 35,217,848 (GRCm39)	K512E	probably damaging	Het
Pfpl	T	C	19: 12,406,597 (GRCm39)	F283L	probably damaging	Het
Pick1	A	G	15: 79,139,895 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,814,059 (GRCm39)	V4143A	probably damaging	Het
Ptprc	C	T	1: 138,028,779 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,451,897 (GRCm39)	F1342S	probably benign	Het
Slc17a7	A	T	7: 44,822,830 (GRCm39)	I436F	probably benign	Het
Slc34a1	G	T	13: 55,559,884 (GRCm39)	A403S	probably damaging	Het
Stmn3	A	T	2: 180,950,952 (GRCm39)	Y35N	possibly damaging	Het
Tldc2	A	G	2: 156,938,382 (GRCm39)	E207G	probably damaging	Het
Unc79	A	G	12: 103,027,717 (GRCm39)	N436S	probably damaging	Het
Uty	G	T	Y: 1,158,288 (GRCm39)	P538Q	probably damaging	Het
Zzef1	A	G	11: 72,756,921 (GRCm39)	D1142G	probably damaging	Het

Other mutations in Gpr179

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Gpr179	APN	11	97,228,627 (GRCm39)	missense	probably damaging	0.99
IGL01152:Gpr179	APN	11	97,228,237 (GRCm39)	missense	probably benign	0.08
IGL01402:Gpr179	APN	11	97,229,012 (GRCm39)	nonsense	probably null
IGL01404:Gpr179	APN	11	97,229,012 (GRCm39)	nonsense	probably null
IGL01773:Gpr179	APN	11	97,232,192 (GRCm39)	missense	probably benign	0.05
IGL02682:Gpr179	APN	11	97,242,691 (GRCm39)	missense	probably benign
IGL02728:Gpr179	APN	11	97,228,726 (GRCm39)	missense	probably damaging	0.99
IGL03243:Gpr179	APN	11	97,242,301 (GRCm39)	missense	probably benign	0.02
IGL03272:Gpr179	APN	11	97,227,419 (GRCm39)	missense	possibly damaging	0.89
IGL03347:Gpr179	APN	11	97,242,664 (GRCm39)	missense	probably damaging	1.00
IGL03355:Gpr179	APN	11	97,228,434 (GRCm39)	missense	possibly damaging	0.57
PIT4280001:Gpr179	UTSW	11	97,234,941 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Gpr179	UTSW	11	97,227,677 (GRCm39)	missense	probably benign
R0042:Gpr179	UTSW	11	97,225,757 (GRCm39)	missense	probably benign	0.04
R0042:Gpr179	UTSW	11	97,225,757 (GRCm39)	missense	probably benign	0.04
R0080:Gpr179	UTSW	11	97,242,295 (GRCm39)	missense	probably benign	0.08
R0255:Gpr179	UTSW	11	97,226,892 (GRCm39)	missense	probably benign	0.24
R0412:Gpr179	UTSW	11	97,229,633 (GRCm39)	missense	probably damaging	1.00
R0481:Gpr179	UTSW	11	97,240,544 (GRCm39)	missense	probably damaging	1.00
R0612:Gpr179	UTSW	11	97,229,264 (GRCm39)	missense	possibly damaging	0.86
R0786:Gpr179	UTSW	11	97,234,100 (GRCm39)	missense	probably damaging	1.00
R1753:Gpr179	UTSW	11	97,237,404 (GRCm39)	missense	probably damaging	1.00
R1761:Gpr179	UTSW	11	97,225,932 (GRCm39)	missense	probably benign	0.00
R1796:Gpr179	UTSW	11	97,227,382 (GRCm39)	missense	possibly damaging	0.86
R1969:Gpr179	UTSW	11	97,228,784 (GRCm39)	missense	probably benign
R2240:Gpr179	UTSW	11	97,242,559 (GRCm39)	missense	probably damaging	1.00
R3855:Gpr179	UTSW	11	97,232,260 (GRCm39)	missense	probably damaging	1.00
R3913:Gpr179	UTSW	11	97,225,591 (GRCm39)	missense	probably benign	0.01
R4484:Gpr179	UTSW	11	97,226,537 (GRCm39)	missense	probably benign	0.28
R4806:Gpr179	UTSW	11	97,240,610 (GRCm39)	missense	possibly damaging	0.55
R4816:Gpr179	UTSW	11	97,230,074 (GRCm39)	missense	probably damaging	0.99
R4906:Gpr179	UTSW	11	97,237,487 (GRCm39)	missense	possibly damaging	0.87
R4945:Gpr179	UTSW	11	97,240,544 (GRCm39)	missense	probably damaging	1.00
R5191:Gpr179	UTSW	11	97,228,975 (GRCm39)	missense	possibly damaging	0.76
R5273:Gpr179	UTSW	11	97,238,256 (GRCm39)	missense	probably damaging	1.00
R5317:Gpr179	UTSW	11	97,228,671 (GRCm39)	missense	probably damaging	1.00
R5459:Gpr179	UTSW	11	97,227,483 (GRCm39)	missense	probably benign	0.00
R5507:Gpr179	UTSW	11	97,229,156 (GRCm39)	missense	probably damaging	1.00
R5523:Gpr179	UTSW	11	97,227,608 (GRCm39)	missense	probably benign	0.37
R5536:Gpr179	UTSW	11	97,234,641 (GRCm39)	missense	probably damaging	1.00
R5591:Gpr179	UTSW	11	97,236,581 (GRCm39)	missense	probably benign	0.17
R5679:Gpr179	UTSW	11	97,227,571 (GRCm39)	missense	probably benign	0.20
R5738:Gpr179	UTSW	11	97,242,232 (GRCm39)	missense	probably damaging	1.00
R5829:Gpr179	UTSW	11	97,226,524 (GRCm39)	missense	probably benign	0.11
R5836:Gpr179	UTSW	11	97,229,882 (GRCm39)	missense	probably benign	0.03
R6007:Gpr179	UTSW	11	97,226,628 (GRCm39)	nonsense	probably null
R6339:Gpr179	UTSW	11	97,235,002 (GRCm39)	missense	probably damaging	1.00
R6383:Gpr179	UTSW	11	97,227,973 (GRCm39)	missense	possibly damaging	0.88
R6674:Gpr179	UTSW	11	97,238,231 (GRCm39)	critical splice donor site	probably null
R6712:Gpr179	UTSW	11	97,226,993 (GRCm39)	missense	possibly damaging	0.94
R6835:Gpr179	UTSW	11	97,238,293 (GRCm39)	missense	probably damaging	1.00
R6980:Gpr179	UTSW	11	97,225,684 (GRCm39)	missense	probably benign	0.38
R7044:Gpr179	UTSW	11	97,240,616 (GRCm39)	missense	probably benign	0.19
R7121:Gpr179	UTSW	11	97,225,556 (GRCm39)	missense	probably benign	0.00
R7307:Gpr179	UTSW	11	97,229,672 (GRCm39)	missense	probably benign	0.36
R7406:Gpr179	UTSW	11	97,242,420 (GRCm39)	missense	probably damaging	0.99
R7467:Gpr179	UTSW	11	97,226,115 (GRCm39)	missense	probably benign	0.02
R7477:Gpr179	UTSW	11	97,226,665 (GRCm39)	missense	possibly damaging	0.87
R7725:Gpr179	UTSW	11	97,242,118 (GRCm39)	missense	probably damaging	1.00
R8028:Gpr179	UTSW	11	97,228,627 (GRCm39)	missense	probably damaging	0.99
R8165:Gpr179	UTSW	11	97,242,364 (GRCm39)	missense	probably benign	0.12
R8262:Gpr179	UTSW	11	97,226,983 (GRCm39)	missense	probably benign	0.00
R8674:Gpr179	UTSW	11	97,225,873 (GRCm39)	missense	probably benign	0.00
R8695:Gpr179	UTSW	11	97,227,124 (GRCm39)	missense	possibly damaging	0.59
R8731:Gpr179	UTSW	11	97,234,555 (GRCm39)	missense	probably damaging	1.00
R8791:Gpr179	UTSW	11	97,242,739 (GRCm39)	missense	probably damaging	1.00
R8889:Gpr179	UTSW	11	97,226,590 (GRCm39)	missense	possibly damaging	0.95
R8892:Gpr179	UTSW	11	97,226,590 (GRCm39)	missense	possibly damaging	0.95
R8898:Gpr179	UTSW	11	97,242,329 (GRCm39)	nonsense	probably null
R8940:Gpr179	UTSW	11	97,228,675 (GRCm39)	missense	probably damaging	1.00
R9266:Gpr179	UTSW	11	97,227,766 (GRCm39)	missense	probably benign
R9332:Gpr179	UTSW	11	97,229,551 (GRCm39)	missense	probably damaging	1.00
R9440:Gpr179	UTSW	11	97,229,315 (GRCm39)	missense	probably benign	0.11
R9557:Gpr179	UTSW	11	97,235,029 (GRCm39)	missense	probably damaging	0.97
R9594:Gpr179	UTSW	11	97,225,727 (GRCm39)	missense	probably benign	0.13
R9723:Gpr179	UTSW	11	97,225,546 (GRCm39)	missense	possibly damaging	0.93
X0065:Gpr179	UTSW	11	97,238,264 (GRCm39)	missense	probably benign	0.08
Z1176:Gpr179	UTSW	11	97,227,474 (GRCm39)	missense	probably benign	0.05
Z1177:Gpr179	UTSW	11	97,242,065 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTCTCCACTGCCACAGACAG -3'
(R):5'- AGCATGGACAGCTCTCAAAC -3'

Sequencing Primer
(F):5'- CCAGATCTTGGTACGAGCAG -3'
(R):5'- GCTCTCAAACCACTGCGAGG -3'

Posted On

2017-07-14