Mutagenetix > Incidental Mutation

Incidental Mutation 'R7812:Or10q12'

601265

Institutional Source

Beutler Lab

Gene Symbol

Or10q12

Ensembl Gene

ENSMUSG00000047207

Gene Name

olfactory receptor family 10 subfamily Q member 12

Synonyms

Olfr1495, GA_x6K02T2RE5P-4101369-4102328, MOR266-9

MMRRC Submission

045867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R7812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13745708-13746667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13746380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 225 (F225L)

Ref Sequence

ENSEMBL: ENSMUSP00000150205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061669] [ENSMUST00000215930] [ENSMUST00000216980]

AlphaFold

Q8VEZ4

Predicted Effect

probably benign
Transcript: ENSMUST00000061669
AA Change: F225L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000057468
Gene: ENSMUSG00000047207
AA Change: F225L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	312	1.4e-52	PFAM
Pfam:7tm_1	45	295	1.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215930
AA Change: F225L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000216980
AA Change: F225L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,165,141 (GRCm39)	C411F	probably damaging	Het
Abhd17c	G	T	7: 83,800,624 (GRCm39)	Y143*	probably null	Het
Acad11	T	G	9: 103,972,747 (GRCm39)	L480R	probably benign	Het
Acad8	A	T	9: 26,890,476 (GRCm39)	N277K	probably damaging	Het
Adcy10	A	G	1: 165,342,938 (GRCm39)	Y268C	probably damaging	Het
Adm2	A	T	15: 89,208,367 (GRCm39)	R102S	possibly damaging	Het
Ambra1	A	T	2: 91,596,911 (GRCm39)	M1L	probably benign	Het
Angpt2	T	C	8: 18,742,161 (GRCm39)	N465S	probably benign	Het
Arhgap17	T	C	7: 122,879,290 (GRCm39)	I820M	unknown	Het
Atf7ip	G	A	6: 136,580,415 (GRCm39)	R1113Q	probably damaging	Het
Atp5pb	A	G	3: 105,851,157 (GRCm39)	V180A	probably benign	Het
Auts2	C	T	5: 131,501,284 (GRCm39)	R43H		Het
Cacna1g	A	T	11: 94,334,880 (GRCm39)	I809N	probably benign	Het
Cand1	A	T	10: 119,053,864 (GRCm39)	M158K	probably benign	Het
Cars1	T	A	7: 143,123,784 (GRCm39)	I500F	probably damaging	Het
Ccdc18	T	A	5: 108,328,699 (GRCm39)	M706K	probably benign	Het
Ccdc180	G	A	4: 45,906,952 (GRCm39)		probably null	Het
Ces1f	A	G	8: 93,984,938 (GRCm39)	V463A	probably benign	Het
Cndp1	G	T	18: 84,655,994 (GRCm39)	D58E	probably benign	Het
Csnk2b	A	T	17: 35,339,431 (GRCm39)	F21Y	probably benign	Het
Dgkg	C	G	16: 22,385,165 (GRCm39)	R447T	probably damaging	Het
Dnajc12	A	G	10: 63,242,905 (GRCm39)	D141G	probably benign	Het
Edar	A	G	10: 58,465,926 (GRCm39)	V4A	probably benign	Het
Elf1	A	G	14: 79,802,998 (GRCm39)	D117G	probably damaging	Het
Fam124b	T	C	1: 80,191,351 (GRCm39)	T11A	probably damaging	Het
Fgl2	C	A	5: 21,577,896 (GRCm39)	T61K	probably benign	Het
Furin	T	C	7: 80,045,722 (GRCm39)	N218S	possibly damaging	Het
Gcn1	T	A	5: 115,731,751 (GRCm39)	H955Q	possibly damaging	Het
Gucy2e	A	G	11: 69,117,069 (GRCm39)	I784T	probably damaging	Het
Ice1	T	A	13: 70,751,124 (GRCm39)	Q1654L	possibly damaging	Het
Klhl28	T	C	12: 64,990,363 (GRCm39)	N526S	possibly damaging	Het
Ldlrad4	C	A	18: 68,239,742 (GRCm39)	P54Q	probably benign	Het
Lsm14a	A	G	7: 34,088,301 (GRCm39)		probably benign	Het
Mdga1	A	G	17: 30,062,115 (GRCm39)	V438A	probably benign	Het
Mrto4	A	G	4: 139,075,278 (GRCm39)	V175A	possibly damaging	Het
Nav2	T	G	7: 49,246,921 (GRCm39)	S2149A	probably benign	Het
Nr4a2	A	G	2: 57,002,430 (GRCm39)	Y8H	probably damaging	Het
Or1j12	T	A	2: 36,343,290 (GRCm39)	I231N	probably benign	Het
Or1j18	A	T	2: 36,624,737 (GRCm39)	M135L	probably benign	Het
Or52e4	T	C	7: 104,705,894 (GRCm39)	L147P	possibly damaging	Het
Oxr1	T	A	15: 41,615,138 (GRCm39)	M1K	probably null	Het
Pbx3	T	C	2: 34,114,478 (GRCm39)	Y152C	probably damaging	Het
Pcdhb13	T	A	18: 37,575,645 (GRCm39)	C8S	probably benign	Het
Polr1c	G	A	17: 46,557,053 (GRCm39)	R77W	probably damaging	Het
Psg25	A	T	7: 18,255,093 (GRCm39)	N474K	possibly damaging	Het
Ralgapa1	T	A	12: 55,766,413 (GRCm39)	M838L	possibly damaging	Het
Ranbp2	A	G	10: 58,303,224 (GRCm39)	T799A	probably benign	Het
Sbf2	C	T	7: 110,049,170 (GRCm39)	V265I	possibly damaging	Het
Scarf2	G	A	16: 17,621,692 (GRCm39)	G381R	probably damaging	Het
Shprh	A	G	10: 11,027,735 (GRCm39)	Q114R	probably benign	Het
Sipa1l2	A	C	8: 126,218,334 (GRCm39)	D334E	probably damaging	Het
Slc26a4	T	A	12: 31,594,449 (GRCm39)	I300F	probably damaging	Het
Sox7	C	T	14: 64,185,681 (GRCm39)	T239I	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
St6galnac1	G	T	11: 116,659,927 (GRCm39)	H129N	probably benign	Het
Stxbp4	A	G	11: 90,485,654 (GRCm39)	L231P	probably damaging	Het
Syngap1	A	C	17: 27,160,478 (GRCm39)	Y18S	probably benign	Het
Tenm3	T	C	8: 48,729,335 (GRCm39)	Y1557C	probably benign	Het
Trim44	G	T	2: 102,230,489 (GRCm39)	P181T	possibly damaging	Het
Trp53i13	A	T	11: 77,399,666 (GRCm39)	V221D	possibly damaging	Het
Trpm7	A	G	2: 126,641,236 (GRCm39)	S1554P	probably damaging	Het
Vcl	A	G	14: 21,045,158 (GRCm39)	N288D	probably benign	Het
Vmn2r59	A	T	7: 41,695,196 (GRCm39)	Y405*	probably null	Het
Vps35	T	C	8: 86,010,818 (GRCm39)	D175G	probably benign	Het
Wdr90	A	T	17: 26,071,532 (GRCm39)	L949Q	probably damaging	Het
Wwp1	G	A	4: 19,639,991 (GRCm39)	T517I	probably damaging	Het
Zfp462	T	G	4: 55,008,509 (GRCm39)	F158L	probably benign	Het
Zfp703	T	A	8: 27,469,906 (GRCm39)	H523Q	probably damaging	Het

Other mutations in Or10q12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01542:Or10q12	APN	19	13,745,901 (GRCm39)	missense	probably damaging	1.00
IGL01869:Or10q12	APN	19	13,746,534 (GRCm39)	missense	probably benign	0.02
IGL02088:Or10q12	APN	19	13,746,030 (GRCm39)	missense	probably damaging	1.00
R1583:Or10q12	UTSW	19	13,745,874 (GRCm39)	missense	probably benign	0.10
R1713:Or10q12	UTSW	19	13,746,659 (GRCm39)	missense	probably benign	0.00
R1859:Or10q12	UTSW	19	13,746,088 (GRCm39)	nonsense	probably null
R3717:Or10q12	UTSW	19	13,746,428 (GRCm39)	missense	probably damaging	0.98
R3718:Or10q12	UTSW	19	13,746,428 (GRCm39)	missense	probably damaging	0.98
R3881:Or10q12	UTSW	19	13,746,144 (GRCm39)	missense	probably benign
R4370:Or10q12	UTSW	19	13,746,315 (GRCm39)	missense	probably benign	0.02
R4873:Or10q12	UTSW	19	13,746,126 (GRCm39)	missense	probably damaging	0.99
R4875:Or10q12	UTSW	19	13,746,126 (GRCm39)	missense	probably damaging	0.99
R6335:Or10q12	UTSW	19	13,746,144 (GRCm39)	missense	probably benign
R6352:Or10q12	UTSW	19	13,745,828 (GRCm39)	missense	probably benign
R7038:Or10q12	UTSW	19	13,745,715 (GRCm39)	missense	probably benign
R7107:Or10q12	UTSW	19	13,746,525 (GRCm39)	missense	probably benign	0.22
R7504:Or10q12	UTSW	19	13,746,096 (GRCm39)	missense	probably damaging	1.00
R7626:Or10q12	UTSW	19	13,745,709 (GRCm39)	start codon destroyed	probably null	0.92
R7852:Or10q12	UTSW	19	13,745,874 (GRCm39)	missense	probably benign	0.00
R7860:Or10q12	UTSW	19	13,745,716 (GRCm39)	missense	probably benign	0.09
R8183:Or10q12	UTSW	19	13,746,086 (GRCm39)	missense	probably damaging	0.99
R8357:Or10q12	UTSW	19	13,745,721 (GRCm39)	missense	probably benign	0.09
R8457:Or10q12	UTSW	19	13,745,721 (GRCm39)	missense	probably benign	0.09
R8716:Or10q12	UTSW	19	13,746,185 (GRCm39)	missense	probably damaging	0.98
Z1088:Or10q12	UTSW	19	13,745,780 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- GTCCAGATGGTAATAGGCTCTTTG -3'
(R):5'- AGGGCAATTTGGCGATCCTC -3'

Sequencing Primer
(F):5'- GGAGCTTACTGCCTTTACTTTCAC -3'
(R):5'- CTCATCCTCTGAGGTGCTGGAG -3'

Posted On

2019-11-26