Mutagenetix > Incidental Mutation

Incidental Mutation 'R6048:Or3a1'

483403

Institutional Source

Beutler Lab

Gene Symbol

Or3a1

Ensembl Gene

ENSMUSG00000063116

Gene Name

olfactory receptor family 3 subfamily A member 1

Synonyms

Olfr410, GA_x6K02T2P1NL-4467421-4466474, MOR255-5

MMRRC Submission

044216-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R6048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74225108-74226055 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74225961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 32 (I32K)

Ref Sequence

ENSEMBL: ENSMUSP00000150291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052254] [ENSMUST00000213831] [ENSMUST00000214490]

AlphaFold

Q8VFX7

Predicted Effect

probably benign
Transcript: ENSMUST00000052254
AA Change: I32K

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000050456
Gene: ENSMUSG00000063116
AA Change: I32K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	5.4e-53	PFAM
Pfam:7TM_GPCR_Srsx	38	253	5e-6	PFAM
Pfam:7tm_1	44	293	7.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213831
AA Change: I32K

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000214490
AA Change: I32K

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a2	T	C	9: 71,169,049 (GRCm39)	I177T	probably damaging	Het
Aopep	T	A	13: 63,388,139 (GRCm39)	F39L	probably damaging	Het
Arl4c	A	G	1: 88,629,350 (GRCm39)	S13P	possibly damaging	Het
Bst1	G	T	5: 43,976,306 (GRCm39)		probably benign	Het
Carmil3	G	A	14: 55,741,302 (GRCm39)	R1029Q	probably benign	Het
Cflar	A	G	1: 58,780,202 (GRCm39)	T269A	probably benign	Het
Clcnka	T	A	4: 141,121,798 (GRCm39)	Y236F	probably damaging	Het
Clmp	T	A	9: 40,682,405 (GRCm39)	I63N	probably damaging	Het
Cln6	T	C	9: 62,751,908 (GRCm39)	L44P	probably damaging	Het
Col5a3	C	T	9: 20,718,915 (GRCm39)	A280T	unknown	Het
Dact2	A	G	17: 14,417,567 (GRCm39)	L211P	probably damaging	Het
Dclk2	G	T	3: 86,813,272 (GRCm39)	Q225K	probably damaging	Het
Ddx60	T	C	8: 62,453,616 (GRCm39)	F1245S	probably benign	Het
Efcab3	A	G	11: 104,835,259 (GRCm39)	K3540E	unknown	Het
Eif3i	T	C	4: 129,487,145 (GRCm39)	N240S	probably benign	Het
Enpp1	T	C	10: 24,536,152 (GRCm39)	Y416C	probably damaging	Het
Epb42	T	A	2: 120,854,889 (GRCm39)	R565S	probably benign	Het
Eral1	G	A	11: 77,966,609 (GRCm39)	P217L	probably benign	Het
Fbxl16	A	G	17: 26,035,967 (GRCm39)	Y188C	probably benign	Het
Fgd3	G	A	13: 49,427,224 (GRCm39)	P503S	probably benign	Het
Frem3	T	C	8: 81,340,062 (GRCm39)	L785P	probably benign	Het
Gadl1	A	G	9: 115,835,769 (GRCm39)		probably null	Het
Gm10787	C	T	10: 76,857,676 (GRCm39)		noncoding transcript	Het
Gm6563	A	G	19: 23,653,246 (GRCm39)	K12R	probably benign	Het
Grm5	T	C	7: 87,675,758 (GRCm39)	L424P	probably damaging	Het
H2ac11	A	G	13: 22,227,006 (GRCm39)	V31A	probably benign	Het
Il17re	T	C	6: 113,447,069 (GRCm39)	S607P	possibly damaging	Het
Ints7	A	G	1: 191,353,524 (GRCm39)		probably benign	Het
Itih1	A	G	14: 30,651,780 (GRCm39)	M854T	possibly damaging	Het
Kif1b	A	G	4: 149,348,086 (GRCm39)	L315P	probably damaging	Het
Ms4a6b	T	C	19: 11,497,734 (GRCm39)	V11A	possibly damaging	Het
Mxd1	C	A	6: 86,627,966 (GRCm39)	D191Y	probably damaging	Het
Nol8	T	A	13: 49,807,160 (GRCm39)		probably null	Het
Ntn4	T	A	10: 93,543,128 (GRCm39)		probably null	Het
Nxph1	A	T	6: 9,247,103 (GRCm39)	T25S	probably benign	Het
Or1n1	A	G	2: 36,749,853 (GRCm39)	V169A	probably benign	Het
Or2bd2	A	C	7: 6,443,354 (GRCm39)	T152P	possibly damaging	Het
Or51f1d	A	G	7: 102,700,526 (GRCm39)	N7S	probably benign	Het
Or5ac20	C	T	16: 59,104,342 (GRCm39)	V173I	probably benign	Het
Or6c219	A	G	10: 129,781,695 (GRCm39)	F79L	possibly damaging	Het
Oxsm	T	A	14: 16,242,308 (GRCm38)	M154L	possibly damaging	Het
Papolg	A	C	11: 23,841,815 (GRCm39)	I36S	probably benign	Het
Pde3b	T	A	7: 114,107,502 (GRCm39)	H544Q	probably benign	Het
Pdzd2	A	T	15: 12,592,656 (GRCm39)		probably null	Het
Prkce	C	A	17: 86,800,775 (GRCm39)	P397Q	probably benign	Het
Ralgapa2	T	C	2: 146,276,765 (GRCm39)	S492G	possibly damaging	Het
Rnf216	A	G	5: 143,054,659 (GRCm39)	Y630H	probably damaging	Het
Ruvbl1	C	T	6: 88,459,973 (GRCm39)	T211I	possibly damaging	Het
Scyl2	A	T	10: 89,481,348 (GRCm39)	D666E	probably benign	Het
Sertad2	A	G	11: 20,598,436 (GRCm39)	T211A	probably benign	Het
Sipa1l1	A	T	12: 82,487,643 (GRCm39)	Q1639L	probably benign	Het
Snx5	T	C	2: 144,101,073 (GRCm39)	D98G	probably damaging	Het
Sorcs2	G	T	5: 36,185,332 (GRCm39)		probably null	Het
Spmip2	T	C	3: 79,313,192 (GRCm39)	S89P	probably damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tmem132d	A	G	5: 128,346,181 (GRCm39)	S114P	probably benign	Het
Tns2	G	A	15: 102,019,846 (GRCm39)	G579R	probably damaging	Het
Usp37	A	T	1: 74,517,295 (GRCm39)		probably null	Het
Vmn1r79	T	C	7: 11,910,448 (GRCm39)	I110T	probably damaging	Het
Vps37a	C	T	8: 40,981,363 (GRCm39)	L69F	probably damaging	Het
Xirp2	T	A	2: 67,338,587 (GRCm39)	I276N	possibly damaging	Het
Zfp946	G	A	17: 22,673,821 (GRCm39)	E192K	probably benign	Het

Other mutations in Or3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02103:Or3a1	APN	11	74,225,862 (GRCm39)	missense	probably damaging	1.00
IGL02885:Or3a1	APN	11	74,225,519 (GRCm39)	missense	possibly damaging	0.95
R0363:Or3a1	UTSW	11	74,225,925 (GRCm39)	missense	probably damaging	1.00
R1033:Or3a1	UTSW	11	74,225,462 (GRCm39)	missense	possibly damaging	0.48
R1722:Or3a1	UTSW	11	74,225,271 (GRCm39)	missense	probably damaging	1.00
R1759:Or3a1	UTSW	11	74,225,808 (GRCm39)	missense	possibly damaging	0.49
R2007:Or3a1	UTSW	11	74,225,212 (GRCm39)	missense	possibly damaging	0.57
R2278:Or3a1	UTSW	11	74,225,991 (GRCm39)	missense	probably benign	0.00
R4756:Or3a1	UTSW	11	74,225,402 (GRCm39)	missense	probably benign
R5382:Or3a1	UTSW	11	74,225,806 (GRCm39)	missense	probably benign	0.00
R6026:Or3a1	UTSW	11	74,225,914 (GRCm39)	missense	probably damaging	0.99
R8488:Or3a1	UTSW	11	74,225,932 (GRCm39)	missense	probably benign	0.01
R9134:Or3a1	UTSW	11	74,225,670 (GRCm39)	missense	probably damaging	1.00
R9368:Or3a1	UTSW	11	74,225,193 (GRCm39)	missense	probably damaging	1.00
X0067:Or3a1	UTSW	11	74,225,776 (GRCm39)	missense	probably benign	0.00
Z1088:Or3a1	UTSW	11	74,225,518 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGCTGTGTGAGGCAGTC -3'
(R):5'- CCCTTTTAAGTATTGCAACTGTACC -3'

Sequencing Primer
(F):5'- GCAGTCTCCATATGGAATTGTACGC -3'
(R):5'- AAGGAACTCATGCAGCCA -3'

Posted On

2017-07-14