Mutagenetix > Incidental Mutation

Incidental Mutation 'R4484:Gpr179'

331544

Institutional Source

Beutler Lab

Gene Symbol

Gpr179

Ensembl Gene

ENSMUSG00000070337

Gene Name

G protein-coupled receptor 179

Synonyms

5330439C02Rik

MMRRC Submission

041740-MU

Accession Numbers

Essential gene?

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

Stock #

R4484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97222935-97242903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97226537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1873 (S1873G)

Ref Sequence

ENSEMBL: ENSMUSP00000091474 (fasta)

Gene Model

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

AlphaFold

E9PY61

Predicted Effect

probably benign
Transcript: ENSMUST00000093942
AA Change: S1873G

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: S1873G

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (46/47)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	T	C	1: 58,301,730 (GRCm39)	C1101R	probably damaging	Het
Atp8b5	T	C	4: 43,357,016 (GRCm39)	I588T	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Cd164l2	T	A	4: 132,950,986 (GRCm39)	V147E	probably damaging	Het
Celsr3	G	A	9: 108,723,262 (GRCm39)		probably null	Het
Cr2	T	C	1: 194,836,482 (GRCm39)	T894A	probably damaging	Het
Crtc3	T	C	7: 80,239,696 (GRCm39)	D552G	probably damaging	Het
Cspg4b	A	T	13: 113,455,733 (GRCm39)	N593I	probably damaging	Het
Cyp2c50	A	G	19: 40,079,083 (GRCm39)	E142G	probably damaging	Het
Dcstamp	A	G	15: 39,617,620 (GRCm39)	I10V	probably benign	Het
Gm44501	T	A	17: 40,887,507 (GRCm39)	F8L	unknown	Het
Gprin2	C	A	14: 33,916,754 (GRCm39)	A339S	probably benign	Het
Gucy1b2	T	A	14: 62,649,038 (GRCm39)	I513F	possibly damaging	Het
Ighv5-6	T	A	12: 113,589,208 (GRCm39)	R91*	probably null	Het
Igtp	G	A	11: 58,097,824 (GRCm39)	V332I	possibly damaging	Het
Itfg1	G	A	8: 86,452,878 (GRCm39)	P497S	probably damaging	Het
Junb	T	C	8: 85,704,517 (GRCm39)	N181S	possibly damaging	Het
Lama3	T	C	18: 12,614,145 (GRCm39)	Y1305H	probably benign	Het
Lrrcc1	A	T	3: 14,616,503 (GRCm39)	N44I	probably damaging	Het
Med15	A	T	16: 17,489,428 (GRCm39)		probably benign	Het
Mkks	T	C	2: 136,722,494 (GRCm39)	E221G	probably benign	Het
Mtmr10	T	C	7: 63,970,379 (GRCm39)	V374A	possibly damaging	Het
Muc5b	G	T	7: 141,422,187 (GRCm39)	C4441F	possibly damaging	Het
Nim1k	G	A	13: 120,173,710 (GRCm39)	Q395*	probably null	Het
Nlrp6	A	G	7: 140,501,694 (GRCm39)	D87G	probably damaging	Het
Ntng1	C	A	3: 110,051,124 (GRCm39)		probably benign	Het
Padi1	G	T	4: 140,544,581 (GRCm39)		probably benign	Het
Rxrg	T	C	1: 167,452,596 (GRCm39)	S133P	probably benign	Het
Snx19	T	C	9: 30,339,192 (GRCm39)	I110T	probably benign	Het
Strap	T	C	6: 137,726,334 (GRCm39)		probably benign	Het
Tasor2	T	C	13: 3,631,831 (GRCm39)	D890G	probably benign	Het
Tgtp2	A	T	11: 48,950,179 (GRCm39)	M131K	probably damaging	Het
Tppp2	T	C	14: 52,156,868 (GRCm39)	F82L	probably damaging	Het
Ttc39c	A	G	18: 12,863,126 (GRCm39)	K397E	possibly damaging	Het
Txlnb	T	TTA	10: 17,714,745 (GRCm39)		probably null	Het
Usp36	T	A	11: 118,176,621 (GRCm39)	R66W	probably damaging	Het
Vmn1r30	A	T	6: 58,412,118 (GRCm39)	V238E	probably damaging	Het
Vmn1r6	A	G	6: 56,980,174 (GRCm39)	I279V	probably benign	Het
Vmn2r61	G	A	7: 41,950,120 (GRCm39)	D847N	probably benign	Het
Zfp622	G	A	15: 25,987,137 (GRCm39)		probably null	Het
Zfp963	T	C	8: 70,197,135 (GRCm39)	I36V	probably benign	Het
Zfy2	A	G	Y: 2,107,351 (GRCm39)	Y428H	possibly 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
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
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'- CAACCTTGGTGTCACTGTCC -3'
(R):5'- AGGACTCCCCTTCCAAGAAG -3'

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

Posted On

2015-07-21