Mutagenetix > Incidental Mutation

Incidental Mutation 'R5459:Gpr179'

432940

Institutional Source

Beutler Lab

Gene Symbol

Gpr179

Ensembl Gene

ENSMUSG00000070337

Gene Name

G protein-coupled receptor 179

Synonyms

5330439C02Rik

MMRRC Submission

043022-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5459 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97222935-97242903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97227483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1557 (H1557Q)

Ref Sequence

ENSEMBL: ENSMUSP00000091474 (fasta)

Gene Model

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

AlphaFold

E9PY61

Predicted Effect

probably benign
Transcript: ENSMUST00000093942
AA Change: H1557Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: H1557Q

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	A	G	17: 35,879,079 (GRCm39)	E139G	possibly damaging	Het
Abcc6	T	C	7: 45,631,607 (GRCm39)	N1223S	probably benign	Het
Adamts3	A	T	5: 89,839,332 (GRCm39)		probably null	Het
Aloxe3	T	A	11: 69,023,654 (GRCm39)	F259Y	possibly damaging	Het
Armc9	G	A	1: 86,135,694 (GRCm39)	R550Q	probably damaging	Het
Ctnnd2	A	G	15: 30,887,334 (GRCm39)	D787G	probably damaging	Het
Dnah7b	A	G	1: 46,148,472 (GRCm39)	I283V	probably null	Het
Ebf2	A	G	14: 67,472,650 (GRCm39)	M23V	probably benign	Het
Fbxw11	T	C	11: 32,689,191 (GRCm39)	V438A	possibly damaging	Het
Fcrla	G	A	1: 170,745,738 (GRCm39)	T348M	possibly damaging	Het
Gpr87	A	G	3: 59,087,148 (GRCm39)	V119A	possibly damaging	Het
Grep1	C	T	17: 23,930,817 (GRCm39)		probably benign	Het
Hfm1	A	G	5: 107,052,629 (GRCm39)	S285P	probably damaging	Het
Hs3st5	T	C	10: 36,704,742 (GRCm39)	V15A	possibly damaging	Het
Hyal5	C	T	6: 24,891,250 (GRCm39)	H355Y	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Map4k3	T	A	17: 80,917,216 (GRCm39)	N587Y	probably damaging	Het
Mcm3ap	T	A	10: 76,332,316 (GRCm39)	L1211*	probably null	Het
Mcmdc2	A	G	1: 10,007,309 (GRCm39)	I620V	probably benign	Het
Mical2	C	T	7: 111,981,444 (GRCm39)	H539Y	probably benign	Het
Myo9a	T	C	9: 59,791,803 (GRCm39)	L1802P	probably damaging	Het
Neto2	T	A	8: 86,397,112 (GRCm39)	I47F	probably benign	Het
Oog3	G	A	4: 143,885,815 (GRCm39)	T261I	probably benign	Het
Or5b95	A	G	19: 12,657,799 (GRCm39)	E109G	probably damaging	Het
Pdilt	A	G	7: 119,086,158 (GRCm39)	L519P	probably benign	Het
Pnpla6	A	T	8: 3,585,829 (GRCm39)	M844L	probably benign	Het
Polk	C	T	13: 96,631,984 (GRCm39)	G250R	probably damaging	Het
Rasal2	A	G	1: 156,985,231 (GRCm39)	S839P	probably damaging	Het
Siae	T	C	9: 37,528,119 (GRCm39)	Y31H	probably damaging	Het
Slc27a2	T	C	2: 126,422,912 (GRCm39)	V379A	probably damaging	Het
Snx9	C	T	17: 5,970,913 (GRCm39)	T418M	probably damaging	Het
Spata31e2	A	C	1: 26,724,272 (GRCm39)	S303A	probably damaging	Het
Srp72	A	G	5: 77,132,185 (GRCm39)	T258A	probably benign	Het
Tango6	T	A	8: 107,576,921 (GRCm39)	D1058E	probably damaging	Het
Tecpr1	T	A	5: 144,144,234 (GRCm39)	Y656F	probably damaging	Het
Tnik	T	A	3: 28,715,890 (GRCm39)	I1168K	probably damaging	Het
Togaram1	A	G	12: 65,014,510 (GRCm39)	E587G	probably damaging	Het
Tyw1	A	C	5: 130,303,547 (GRCm39)	D305A	probably damaging	Het
Vmn1r19	T	A	6: 57,381,475 (GRCm39)	Y9*	probably null	Het
Zkscan3	A	T	13: 21,578,982 (GRCm39)	V142E	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
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
R6047:Gpr179	UTSW	11	97,229,242 (GRCm39)	missense	probably damaging	1.00
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'- AGAGAGGCTTGGGCTTTCTC -3'
(R):5'- CTCCAGAAAGGGATGCTTAGC -3'

Sequencing Primer
(F):5'- TCCCAGGGGCAGATTGCTTC -3'
(R):5'- ATGCTTAGCAGAGTCGGGG -3'

Posted On

2016-10-06