Mutagenetix > Incidental Mutation

Incidental Mutation 'R5536:Gpr179'

434836

Institutional Source

Beutler Lab

Gene Symbol

Gpr179

Ensembl Gene

ENSMUSG00000070337

Gene Name

G protein-coupled receptor 179

Synonyms

5330439C02Rik

MMRRC Submission

043094-MU

Accession Numbers

Essential gene?

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

Stock #

R5536 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97222935-97242903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97234641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 480 (Q480L)

Ref Sequence

ENSEMBL: ENSMUSP00000091474 (fasta)

Gene Model

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

AlphaFold

E9PY61

Predicted Effect

probably damaging
Transcript: ENSMUST00000093942
AA Change: Q480L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: Q480L

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,772,149 (GRCm39)	G446V	possibly damaging	Het
Aadac	T	G	3: 59,946,984 (GRCm39)	N227K	probably benign	Het
Acap1	C	T	11: 69,780,133 (GRCm39)	G74R	probably benign	Het
Adrm1	A	G	2: 179,813,981 (GRCm39)		probably benign	Het
Appl1	G	C	14: 26,645,737 (GRCm39)	S691*	probably null	Het
Atp2a2	T	C	5: 122,595,245 (GRCm39)	D1035G	probably benign	Het
AW551984	A	G	9: 39,504,169 (GRCm39)	I599T	probably benign	Het
Col23a1	C	A	11: 51,458,776 (GRCm39)	D304E	probably damaging	Het
Csmd1	T	C	8: 16,338,674 (GRCm39)	R478G	probably damaging	Het
Dnah7a	T	C	1: 53,464,412 (GRCm39)	N3660D	probably benign	Het
Drosha	T	A	15: 12,929,797 (GRCm39)	Y1331N	possibly damaging	Het
E2f6	T	G	12: 16,874,685 (GRCm39)	S256A	probably benign	Het
Evc	A	G	5: 37,483,927 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,817,403 (GRCm39)	I4379F	probably benign	Het
Galnt2	T	C	8: 125,050,412 (GRCm39)	C91R	probably damaging	Het
Gm3095	G	T	14: 15,170,371 (GRCm39)	M73I	probably benign	Het
Gucy2g	T	A	19: 55,226,359 (GRCm39)	I186F	probably benign	Het
Hmcn1	T	A	1: 150,631,042 (GRCm39)	I919F	probably benign	Het
Kdm3a	A	C	6: 71,588,920 (GRCm39)	V363G	probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Lama5	C	T	2: 179,831,142 (GRCm39)	R1839H	probably damaging	Het
Lpo	T	C	11: 87,707,389 (GRCm39)	D208G	probably damaging	Het
Lpp	A	G	16: 24,663,956 (GRCm39)	D411G	possibly damaging	Het
Marco	T	C	1: 120,432,464 (GRCm39)	S8G	possibly damaging	Het
Mthfr	T	C	4: 148,128,940 (GRCm39)	F171S	probably damaging	Het
Nlrx1	A	T	9: 44,175,183 (GRCm39)	S198T	probably damaging	Het
Nol10	C	A	12: 17,466,138 (GRCm39)	S511*	probably null	Het
Nup153	T	C	13: 46,836,485 (GRCm39)	T1375A	probably benign	Het
Obscn	A	G	11: 58,998,697 (GRCm39)	S1367P	probably damaging	Het
Or4x6	A	G	2: 89,949,183 (GRCm39)	V253A	probably benign	Het
Pcdha7	G	A	18: 37,108,303 (GRCm39)	V443M	probably damaging	Het
Plekha1	G	T	7: 130,511,331 (GRCm39)	R305I	probably damaging	Het
Psmb2	T	A	4: 126,578,002 (GRCm39)	I60N	probably damaging	Het
Rad17	C	A	13: 100,767,612 (GRCm39)	G330C	probably damaging	Het
Slc5a6	A	G	5: 31,200,446 (GRCm39)	S80P	probably damaging	Het
Srgap2	T	A	1: 131,228,128 (GRCm39)		probably null	Het
Taf8	C	A	17: 47,805,407 (GRCm39)	R164L	possibly damaging	Het
Tmem87a	C	A	2: 120,227,911 (GRCm39)	D79Y	probably damaging	Het
Tmtc4	G	A	14: 123,170,291 (GRCm39)	R574W	probably benign	Het
Tprn	G	A	2: 25,153,369 (GRCm39)	A224T	probably benign	Het
Usf3	A	G	16: 44,037,733 (GRCm39)	T738A	probably benign	Het
Vmn2r54	A	C	7: 12,366,343 (GRCm39)	V197G	probably benign	Het
Zbtb40	G	T	4: 136,714,642 (GRCm39)	P1049Q	probably damaging	Het
Zfp551	A	T	7: 12,149,488 (GRCm39)	S640R	possibly damaging	Het
Zfp932	T	A	5: 110,157,713 (GRCm39)	C470*	probably null	Het
Zkscan8	T	C	13: 21,710,838 (GRCm39)	I91V	probably damaging	Het
Zmat4	T	C	8: 24,238,508 (GRCm39)	V30A	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
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'- TGTAGTCCCAGTGGTCATGG -3'
(R):5'- TTTCAAAGTCAGACCCTCCC -3'

Sequencing Primer
(F):5'- TGGTGACAGAGGTAGAAGTGGC -3'
(R):5'- AGTCAGACCCTCCCCGGTAC -3'

Posted On

2016-10-24