Mutagenetix > Incidental Mutation

Incidental Mutation 'R7709:Or8c20'

594470

Institutional Source

Beutler Lab

Gene Symbol

Or8c20

Ensembl Gene

ENSMUSG00000094588

Gene Name

olfactory receptor family 8 subfamily C member 20

Synonyms

GA_x6K02T2PVTD-32037624-32038565, MOR170-3, Olfr898

MMRRC Submission

045768-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R7709 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38260381-38261331 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38260573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 59 (M59V)

Ref Sequence

ENSEMBL: ENSMUSP00000149554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076504] [ENSMUST00000216304] [ENSMUST00000217063]

AlphaFold

L7N1Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000076504
AA Change: M65V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000075824
Gene: ENSMUSG00000094588
AA Change: M65V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	313	2.2e-47	PFAM
Pfam:7tm_1	47	313	1.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216304
AA Change: M59V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000217063
AA Change: M59V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,201,334 (GRCm39)	I443T	probably damaging	Het
2310002L09Rik	A	G	4: 73,861,091 (GRCm39)	C170R	possibly damaging	Het
4933415A04Rik	GTGTGTGTGTATGTGTGTGT	GTGTGTGTGT	11: 43,478,237 (GRCm39)		probably null	Het
A2m	A	C	6: 121,637,063 (GRCm39)	T809P	possibly damaging	Het
Abca12	T	C	1: 71,374,887 (GRCm39)	D340G	probably benign	Het
Abcg8	A	T	17: 84,999,919 (GRCm39)	D191V	probably damaging	Het
Acan	G	T	7: 78,739,356 (GRCm39)	V255F	probably damaging	Het
Ace	G	A	11: 105,879,663 (GRCm39)	V1248I	probably benign	Het
Adgre1	A	T	17: 57,709,519 (GRCm39)	Q87L	unknown	Het
Adgrl1	G	A	8: 84,665,617 (GRCm39)	V1435M	probably benign	Het
Ano8	T	C	8: 71,934,933 (GRCm39)	D423G	probably damaging	Het
Aox3	T	C	1: 58,219,810 (GRCm39)	Y1137H	probably damaging	Het
Arl5a	T	C	2: 52,295,068 (GRCm39)	D114G	probably benign	Het
B3galt9	T	G	2: 34,728,437 (GRCm39)	C79G	probably damaging	Het
Baiap2l2	G	T	15: 79,143,911 (GRCm39)	N394K	probably benign	Het
Cap1	A	T	4: 122,756,467 (GRCm39)	C355S	probably damaging	Het
Ccdc25	A	T	14: 66,077,933 (GRCm39)	D22V	probably damaging	Het
Ceacam2	T	C	7: 25,238,076 (GRCm39)	D116G	probably damaging	Het
Clec4b2	A	G	6: 123,149,974 (GRCm39)		probably benign	Het
CN725425	C	A	15: 91,124,930 (GRCm39)	R157S	probably benign	Het
Coq8b	T	C	7: 26,949,962 (GRCm39)	I347T	probably damaging	Het
Ctbp2	C	A	7: 132,591,789 (GRCm39)	V338L	probably benign	Het
Cyp2d22	A	G	15: 82,258,612 (GRCm39)	V83A	possibly damaging	Het
Daam1	G	A	12: 72,024,423 (GRCm39)	R797H	probably benign	Het
Dab1	C	A	4: 104,577,756 (GRCm39)	S275*	probably null	Het
Dgkz	T	C	2: 91,767,404 (GRCm39)	E863G	probably benign	Het
Dhx34	G	A	7: 15,946,789 (GRCm39)	A515V	possibly damaging	Het
Dnah14	T	C	1: 181,530,049 (GRCm39)		probably null	Het
Dnmt3b	C	A	2: 153,514,140 (GRCm39)	N384K	probably benign	Het
Dock5	A	G	14: 68,033,454 (GRCm39)	Y972H	probably benign	Het
Etv5	A	T	16: 22,231,597 (GRCm39)	Y138*	probably null	Het
Fdps	A	G	3: 89,008,397 (GRCm39)	S4P	probably damaging	Het
Gart	A	G	16: 91,419,853 (GRCm39)	F885L	possibly damaging	Het
Gm32687	A	T	10: 81,715,328 (GRCm39)	H240L	probably damaging	Het
Gm4553	C	T	7: 141,719,384 (GRCm39)	G15R	unknown	Het
Gm572	C	T	4: 148,753,408 (GRCm39)	T351M	probably damaging	Het
Gpr3	A	T	4: 132,937,748 (GRCm39)	L308Q	probably damaging	Het
Gpsm2	A	G	3: 108,609,097 (GRCm39)	V174A	probably benign	Het
Gucy1a1	T	C	3: 82,002,096 (GRCm39)	H661R	unknown	Het
Heatr4	A	T	12: 84,004,499 (GRCm39)	M774K	probably damaging	Het
Hmgcr	A	G	13: 96,799,605 (GRCm39)	I163T	possibly damaging	Het
Ift81	C	T	5: 122,747,394 (GRCm39)	V91M	probably damaging	Het
Igsf10	G	T	3: 59,238,964 (GRCm39)	Q406K	probably damaging	Het
Il10ra	A	G	9: 45,171,697 (GRCm39)	V257A	probably benign	Het
Ina	A	T	19: 47,012,082 (GRCm39)	K500I		Het
Lce1i	A	T	3: 92,685,066 (GRCm39)	C37S	unknown	Het
Lrrc59	A	T	11: 94,525,811 (GRCm39)	D133V	probably damaging	Het
Magi3	A	G	3: 103,941,354 (GRCm39)	I867T	probably damaging	Het
Mmaa	T	A	8: 79,995,830 (GRCm39)	R298W	probably damaging	Het
Mon1a	G	T	9: 107,777,327 (GRCm39)	V77F	probably benign	Het
Mrc2	A	G	11: 105,237,285 (GRCm39)	T1030A	probably benign	Het
Mrps27	T	A	13: 99,541,504 (GRCm39)	S162T	probably benign	Het
Mtmr12	T	A	15: 12,245,097 (GRCm39)	M204K	probably damaging	Het
Mtus1	A	G	8: 41,507,687 (GRCm39)	I21T	possibly damaging	Het
Myh2	T	C	11: 67,085,690 (GRCm39)	V1844A	probably benign	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Nbr1	T	G	11: 101,447,067 (GRCm39)	F18V	probably damaging	Het
Npy2r	T	C	3: 82,447,689 (GRCm39)	N362S	probably benign	Het
Ocln	T	A	13: 100,676,106 (GRCm39)	Y129F	probably damaging	Het
Or2t1	T	C	14: 14,328,384 (GRCm38)	I91T	probably damaging	Het
Or4c10	T	C	2: 89,760,225 (GRCm39)	I24T	probably benign	Het
Pik3c2b	T	G	1: 133,007,579 (GRCm39)		probably null	Het
Prss39	A	G	1: 34,541,709 (GRCm39)	D262G	probably damaging	Het
Ptk7	T	A	17: 46,882,569 (GRCm39)	D886V	possibly damaging	Het
Ptprg	T	A	14: 12,226,452 (GRCm38)	D1348E	probably damaging	Het
Rabgap1	T	C	2: 37,427,339 (GRCm39)	I640T	possibly damaging	Het
Rogdi	A	G	16: 4,827,098 (GRCm39)	Y303H	probably damaging	Het
Rps6kb1	A	T	11: 86,404,148 (GRCm39)	M283K	probably damaging	Het
Sardh	T	A	2: 27,131,529 (GRCm39)	T188S	possibly damaging	Het
Sebox	A	G	11: 78,394,919 (GRCm39)	E87G	probably damaging	Het
Smchd1	A	T	17: 71,665,193 (GRCm39)	M1830K	probably damaging	Het
Spata31h1	A	C	10: 82,126,366 (GRCm39)	S2215A	possibly damaging	Het
Spink8	G	A	9: 109,645,848 (GRCm39)	V7I	probably benign	Het
Src	G	A	2: 157,299,164 (GRCm39)	V54M	probably benign	Het
Taar2	A	G	10: 23,816,621 (GRCm39)	I54V	probably benign	Het
Tpo	A	T	12: 30,181,859 (GRCm39)	V12E	possibly damaging	Het
Txk	T	C	5: 72,864,918 (GRCm39)	D373G	probably damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Vil1	C	T	1: 74,465,754 (GRCm39)	T515M	probably benign	Het
Wdr47	G	T	3: 108,525,837 (GRCm39)	C120F	probably damaging	Het
Ylpm1	C	T	12: 85,059,799 (GRCm39)	P335L	unknown	Het
Zfp148	T	A	16: 33,288,545 (GRCm39)	I220N	probably damaging	Het
Zfp992	A	T	4: 146,551,622 (GRCm39)	K448*	probably null	Het
Zfp994	T	C	17: 22,419,406 (GRCm39)	I514M	probably benign	Het
Zp2	A	T	7: 119,734,998 (GRCm39)	I429N	probably damaging	Het

Other mutations in Or8c20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Or8c20	APN	9	38,261,101 (GRCm39)	missense	possibly damaging	0.95
IGL02477:Or8c20	APN	9	38,260,421 (GRCm39)	missense	probably benign	0.16
IGL02858:Or8c20	APN	9	38,260,469 (GRCm39)	missense	probably benign	0.04
PIT4362001:Or8c20	UTSW	9	38,260,494 (GRCm39)	missense	probably benign	0.34
R0060:Or8c20	UTSW	9	38,260,808 (GRCm39)	missense	probably benign	0.23
R0518:Or8c20	UTSW	9	38,260,499 (GRCm39)	missense	probably damaging	0.99
R0521:Or8c20	UTSW	9	38,260,499 (GRCm39)	missense	probably damaging	0.99
R0622:Or8c20	UTSW	9	38,260,667 (GRCm39)	missense	possibly damaging	0.74
R0898:Or8c20	UTSW	9	38,260,738 (GRCm39)	missense	probably damaging	0.97
R1562:Or8c20	UTSW	9	38,260,658 (GRCm39)	nonsense	probably null
R3903:Or8c20	UTSW	9	38,260,954 (GRCm39)	nonsense	probably null
R4375:Or8c20	UTSW	9	38,260,465 (GRCm39)	missense	probably benign
R4459:Or8c20	UTSW	9	38,261,288 (GRCm39)	missense	probably damaging	1.00
R4762:Or8c20	UTSW	9	38,260,577 (GRCm39)	missense	probably damaging	1.00
R4943:Or8c20	UTSW	9	38,260,924 (GRCm39)	missense	probably damaging	1.00
R5033:Or8c20	UTSW	9	38,260,924 (GRCm39)	missense	probably damaging	1.00
R5442:Or8c20	UTSW	9	38,261,158 (GRCm39)	missense	probably benign	0.06
R5863:Or8c20	UTSW	9	38,261,083 (GRCm39)	missense	probably benign	0.09
R5988:Or8c20	UTSW	9	38,261,045 (GRCm39)	missense	probably benign	0.30
R7077:Or8c20	UTSW	9	38,261,266 (GRCm39)	missense	probably damaging	1.00
R7509:Or8c20	UTSW	9	38,260,868 (GRCm39)	missense	probably benign	0.26
R9305:Or8c20	UTSW	9	38,260,381 (GRCm39)	start codon destroyed	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TTTCAGATGCGAGTCATGAAGC -3'
(R):5'- TGGCCACATAGCGATCATAG -3'

Sequencing Primer
(F):5'- TGCGAGTCATGAAGCAAATGGTTTC -3'
(R):5'- ATCATAGGCCATGGCTGTCAG -3'

Posted On

2019-11-12