Mutagenetix > Incidental Mutation

Incidental Mutation 'R5829:Gpr179'

450332

Institutional Source

Beutler Lab

Gene Symbol

Gpr179

Ensembl Gene

ENSMUSG00000070337

Gene Name

G protein-coupled receptor 179

Synonyms

5330439C02Rik

Accession Numbers

Essential gene?

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

Stock #

R5829 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97222935-97242903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97226524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 1877 (S1877L)

Ref Sequence

ENSEMBL: ENSMUSP00000091474 (fasta)

Gene Model

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

AlphaFold

E9PY61

Predicted Effect

probably benign
Transcript: ENSMUST00000093942
AA Change: S1877L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: S1877L

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: 99.7%
10x: 98.4%
20x: 95.6%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Atp6v1e2	T	C	17: 87,252,144 (GRCm39)	R85G	probably benign	Het
Bmpr1b	T	C	3: 141,550,918 (GRCm39)	H391R	probably benign	Het
Camsap3	A	G	8: 3,647,899 (GRCm39)	H69R	probably damaging	Het
Cimip2a	G	A	2: 25,108,869 (GRCm39)		probably null	Het
Col12a1	C	T	9: 79,540,955 (GRCm39)	G2391R	probably damaging	Het
Dab2ip	ATCCT	ATCCTCCT	2: 35,597,787 (GRCm39)		probably benign	Het
Epha4	G	A	1: 77,421,631 (GRCm39)	L284F	probably benign	Het
Fat4	T	C	3: 39,061,454 (GRCm39)	S4346P	probably damaging	Het
Fbxo22	T	A	9: 55,125,596 (GRCm39)		probably null	Het
Gcc1	C	A	6: 28,419,690 (GRCm39)		probably benign	Het
Gdf10	T	C	14: 33,654,674 (GRCm39)	S394P	probably damaging	Het
Gdf9	C	T	11: 53,324,516 (GRCm39)	T95M	probably benign	Het
Gtf2i	A	G	5: 134,292,547 (GRCm39)	V380A	probably damaging	Het
Il17c	G	A	8: 123,148,970 (GRCm39)	R38Q	probably damaging	Het
Il17rd	G	A	14: 26,814,042 (GRCm39)		probably null	Het
Iqch	C	T	9: 63,332,639 (GRCm39)		probably null	Het
Lrrc37	C	T	11: 103,432,712 (GRCm39)	E1310K	possibly damaging	Het
Mpp4	A	T	1: 59,168,101 (GRCm39)	S456R	probably damaging	Het
Nek10	T	C	14: 14,865,404 (GRCm38)	Y601H	probably damaging	Het
Nrxn2	C	T	19: 6,540,879 (GRCm39)	P936L	probably benign	Het
Or8b44	T	A	9: 38,410,545 (GRCm39)	Y193*	probably null	Het
Pcdhb9	T	C	18: 37,534,942 (GRCm39)	V312A	probably damaging	Het
Pex5l	T	C	3: 33,060,139 (GRCm39)	T211A	probably benign	Het
Pik3c2a	T	C	7: 115,972,049 (GRCm39)	T794A	probably benign	Het
Pla2g6	A	G	15: 79,171,893 (GRCm39)	F710L	possibly damaging	Het
Repin1	A	T	6: 48,571,766 (GRCm39)		probably benign	Het
Rev3l	A	T	10: 39,682,902 (GRCm39)	E340V	probably damaging	Het
Ryr3	A	G	2: 112,690,076 (GRCm39)	S1158P	probably damaging	Het
S100a16	A	T	3: 90,449,454 (GRCm39)	Q43L	possibly damaging	Het
Scg2	A	G	1: 79,414,637 (GRCm39)	S29P	probably damaging	Het
Sfrp5	T	C	19: 42,190,095 (GRCm39)	Y119C	probably damaging	Het
Sh3tc2	A	G	18: 62,123,986 (GRCm39)	T916A	probably benign	Het
Smpd3	A	G	8: 106,991,512 (GRCm39)	V347A	probably benign	Het
Tmem212	C	A	3: 27,939,081 (GRCm39)	C135F	possibly damaging	Het
Unc13c	T	A	9: 73,600,650 (GRCm39)	N1365Y	probably benign	Het
Usp13	G	T	3: 32,940,672 (GRCm39)	G395C	possibly damaging	Het
Vmn2r68	T	C	7: 84,886,812 (GRCm39)	N34S	probably benign	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
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'- GCTCAACCTTGGTGTCACTG -3'
(R):5'- TTCCAAGAAGAAGGCACGTC -3'

Sequencing Primer
(F):5'- CTAACTCTAGGTTGGTCAGGGCAC -3'
(R):5'- TCAAAGGGGGACACAAAACTCTG -3'

Posted On

2016-12-20