Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Or10a49'

636258

Institutional Source

Beutler Lab

Gene Symbol

Or10a49

Ensembl Gene

ENSMUSG00000066240

Gene Name

olfactory receptor family 10 subfamily A member 49

Synonyms

MOR268-4, Olfr517, GA_x6K02T2PBJ9-11199311-11198367

MMRRC Submission

067655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108467415-108468359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108467726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 212 (V212L)

Ref Sequence

ENSEMBL: ENSMUSP00000081805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084753]

AlphaFold

Q7TRU4

Predicted Effect

probably benign
Transcript: ENSMUST00000084753
AA Change: V212L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081805
Gene: ENSMUSG00000066240
AA Change: V212L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.4e-60	PFAM
Pfam:7tm_1	41	299	4.1e-22	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,791,605 (GRCm39)	Y277C	probably damaging	Het
Acss1	T	A	2: 150,461,630 (GRCm39)	D651V	possibly damaging	Het
Aktip	G	T	8: 91,851,494 (GRCm39)	P243H	possibly damaging	Het
Arl11	T	G	14: 61,548,714 (GRCm39)	S175A	probably benign	Het
Aup1	A	G	6: 83,031,588 (GRCm39)		probably benign	Het
Avil	A	T	10: 126,844,190 (GRCm39)	I250F	probably damaging	Het
Btnl6	A	T	17: 34,727,857 (GRCm39)		probably null	Het
Ccdc7b	C	A	8: 129,904,772 (GRCm39)	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,724,338 (GRCm39)	E319K	unknown	Het
Chka	A	C	19: 3,935,882 (GRCm39)	E196A	probably damaging	Het
Depdc5	C	T	5: 33,094,981 (GRCm39)	R753C	probably damaging	Het
Dhx57	T	A	17: 80,582,585 (GRCm39)	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,668,952 (GRCm39)	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,253,916 (GRCm39)	L164M	probably benign	Het
Dock6	A	G	9: 21,742,740 (GRCm39)	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,006,897 (GRCm39)	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783 (GRCm39)	S226T	probably benign	Het
Fgd6	A	T	10: 93,879,914 (GRCm39)	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113 (GRCm39)	Y218*	probably null	Het
Filip1	C	A	9: 79,725,374 (GRCm39)	A1082S	probably benign	Het
Heatr5a	G	A	12: 51,938,226 (GRCm39)	T1484M	probably damaging	Het
Herc1	G	T	9: 66,358,170 (GRCm39)	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,044,486 (GRCm39)		probably benign	Het
Igsf5	A	T	16: 96,174,188 (GRCm39)	I73F	probably damaging	Het
Il17ra	T	C	6: 120,449,995 (GRCm39)	V91A	probably benign	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269 (GRCm39)	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515 (GRCm39)	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,456,368 (GRCm39)	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,335,547 (GRCm39)	Y353N	probably damaging	Het
Nepn	A	T	10: 52,267,855 (GRCm39)	E40D	probably benign	Het
Nhsl3	A	T	4: 129,115,252 (GRCm39)	V1070D	possibly damaging	Het
Npat	G	T	9: 53,481,870 (GRCm39)	E1193*	probably null	Het
Nrde2	G	A	12: 100,097,262 (GRCm39)	S846L	probably benign	Het
Nup205	T	C	6: 35,202,138 (GRCm39)	V1290A	probably benign	Het
Or4d10b	A	G	19: 12,036,456 (GRCm39)	V220A	probably benign	Het
Or5g9	T	A	2: 85,551,845 (GRCm39)	L32Q	probably null	Het
Pde6a	A	T	18: 61,353,768 (GRCm39)	K31M	possibly damaging	Het
Pms2	C	T	5: 143,851,589 (GRCm39)	R169C	probably damaging	Het
Polr2g	A	T	19: 8,775,621 (GRCm39)	L30Q	probably damaging	Het
Pramel22	T	A	4: 143,380,755 (GRCm39)	M423L	probably benign	Het
Pramel30	A	T	4: 144,057,030 (GRCm39)	D71V	probably benign	Het
Prdm15	T	A	16: 97,608,260 (GRCm39)	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,207,369 (GRCm39)	Y214*	probably null	Het
Prlr	C	T	15: 10,329,328 (GRCm39)	T601M	possibly damaging	Het
Psen2	A	C	1: 180,073,256 (GRCm39)	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,769,699 (GRCm39)	R764L	probably damaging	Het
Scgb2b11	T	C	7: 31,908,833 (GRCm39)	E89G	probably damaging	Het
Serpina10	T	C	12: 103,594,536 (GRCm39)	I228V	probably benign	Het
Serpinb1a	T	A	13: 33,026,982 (GRCm39)	H320L	probably damaging	Het
Sesn2	C	A	4: 132,225,364 (GRCm39)	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,398,877 (GRCm39)	W1019R	probably damaging	Het
Sqle	A	G	15: 59,193,151 (GRCm39)		probably null	Het
Syt14	T	C	1: 192,669,137 (GRCm39)	M39V	probably benign	Het
Tgm7	A	G	2: 120,931,545 (GRCm39)	V206A	probably damaging	Het
Thbs4	T	C	13: 92,897,094 (GRCm39)		probably null	Het
Trpv1	T	C	11: 73,145,077 (GRCm39)	F721S	probably damaging	Het
Ttll10	A	T	4: 156,120,691 (GRCm39)	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,283,695 (GRCm39)	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,690,350 (GRCm39)	S494F	probably benign	Het
Vwa3b	C	T	1: 37,168,020 (GRCm39)	A603V	probably benign	Het
Xirp2	T	A	2: 67,307,210 (GRCm39)	N19K	probably damaging	Het
Zfp397	T	A	18: 24,093,779 (GRCm39)	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly damaging	Het

Other mutations in Or10a49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Or10a49	APN	7	108,467,482 (GRCm39)	missense	possibly damaging	0.94
IGL01866:Or10a49	APN	7	108,468,006 (GRCm39)	missense	possibly damaging	0.95
IGL02131:Or10a49	APN	7	108,467,415 (GRCm39)	makesense	probably null
IGL02456:Or10a49	APN	7	108,468,257 (GRCm39)	missense	probably benign	0.19
IGL02604:Or10a49	APN	7	108,467,857 (GRCm39)	missense	probably benign	0.00
IGL02975:Or10a49	APN	7	108,468,062 (GRCm39)	nonsense	probably null
R0084:Or10a49	UTSW	7	108,468,007 (GRCm39)	missense	probably damaging	0.98
R0504:Or10a49	UTSW	7	108,468,057 (GRCm39)	missense	possibly damaging	0.91
R0748:Or10a49	UTSW	7	108,468,357 (GRCm39)	start codon destroyed	probably null	1.00
R1428:Or10a49	UTSW	7	108,468,167 (GRCm39)	missense	probably damaging	0.99
R1907:Or10a49	UTSW	7	108,467,705 (GRCm39)	missense	possibly damaging	0.78
R2292:Or10a49	UTSW	7	108,468,223 (GRCm39)	missense	probably benign	0.05
R3874:Or10a49	UTSW	7	108,468,335 (GRCm39)	missense	probably damaging	0.98
R4091:Or10a49	UTSW	7	108,467,650 (GRCm39)	missense	probably damaging	1.00
R4873:Or10a49	UTSW	7	108,467,993 (GRCm39)	missense	probably damaging	0.99
R4875:Or10a49	UTSW	7	108,467,993 (GRCm39)	missense	probably damaging	0.99
R5440:Or10a49	UTSW	7	108,467,833 (GRCm39)	missense	probably damaging	1.00
R5920:Or10a49	UTSW	7	108,467,895 (GRCm39)	missense	probably benign
R6723:Or10a49	UTSW	7	108,467,795 (GRCm39)	missense	probably damaging	1.00
R6730:Or10a49	UTSW	7	108,467,780 (GRCm39)	missense	probably benign	0.09
R6892:Or10a49	UTSW	7	108,467,722 (GRCm39)	missense	probably damaging	1.00
R7473:Or10a49	UTSW	7	108,467,476 (GRCm39)	missense	probably damaging	0.98
R8160:Or10a49	UTSW	7	108,467,995 (GRCm39)	missense	possibly damaging	0.74
R8330:Or10a49	UTSW	7	108,468,046 (GRCm39)	missense	probably damaging	1.00
R8913:Or10a49	UTSW	7	108,467,809 (GRCm39)	missense	probably damaging	1.00
R9231:Or10a49	UTSW	7	108,467,840 (GRCm39)	missense	possibly damaging	0.55
R9585:Or10a49	UTSW	7	108,467,552 (GRCm39)	missense	probably benign	0.20
R9664:Or10a49	UTSW	7	108,467,563 (GRCm39)	missense	probably damaging	1.00
R9778:Or10a49	UTSW	7	108,467,698 (GRCm39)	missense	probably damaging	0.98
Z1186:Or10a49	UTSW	7	108,468,143 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AGCCAATGACATCAGTTTCTTGG -3'
(R):5'- AGTGACATGCTCATGGCTCTC -3'

Sequencing Primer
(F):5'- CAATGACATCAGTTTCTTGGTGTCTG -3'
(R):5'- TGGCTCTCAGGAACCATGATGAC -3'

Posted On

2020-07-13