Mutagenetix > Incidental Mutation

Incidental Mutation 'R5444:Or3a4'

427350

Institutional Source

Beutler Lab

Gene Symbol

Or3a4

Ensembl Gene

ENSMUSG00000043692

Gene Name

olfactory receptor family 3 subfamily A member 4

Synonyms

GA_x6K02T2P1NL-4211516-4210581, MOR255-1, Olfr399

MMRRC Submission

043009-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5444 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73944602-73945604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73944803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 261 (S261G)

Ref Sequence

ENSEMBL: ENSMUSP00000149917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059440] [ENSMUST00000206280] [ENSMUST00000215915]

AlphaFold

Q7TRX3

Predicted Effect

probably benign
Transcript: ENSMUST00000059440
AA Change: S261G

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000056508
Gene: ENSMUSG00000043692
AA Change: S261G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	9.9e-55	PFAM
Pfam:7tm_1	44	293	1.4e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125093

Predicted Effect

probably benign
Transcript: ENSMUST00000206280

Predicted Effect

probably benign
Transcript: ENSMUST00000215915
AA Change: S261G

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (66/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	G	5: 26,684,735 (GRCm39)		noncoding transcript	Het
Adam11	A	G	11: 102,663,674 (GRCm39)	Q284R	probably damaging	Het
Adamts17	T	A	7: 66,691,647 (GRCm39)	H610Q	probably benign	Het
Alg6	A	G	4: 99,629,816 (GRCm39)	Y131C	probably benign	Het
Apol9b	T	C	15: 77,619,963 (GRCm39)	I253T	probably damaging	Het
Asb4	T	A	6: 5,431,040 (GRCm39)	I425N	probably damaging	Het
Atic	T	C	1: 71,615,876 (GRCm39)	L474P	probably damaging	Het
B3glct	C	T	5: 149,669,985 (GRCm39)	T318I	probably damaging	Het
Bbs7	T	C	3: 36,666,199 (GRCm39)	K22E	possibly damaging	Het
Cdk17	T	G	10: 93,053,823 (GRCm39)		probably null	Het
Cemip	T	A	7: 83,631,499 (GRCm39)	T438S	probably damaging	Het
Chd2	T	C	7: 73,122,833 (GRCm39)	E967G	probably damaging	Het
Cyp2d26	G	T	15: 82,676,739 (GRCm39)	D202E	probably benign	Het
Dhdds	G	A	4: 133,698,447 (GRCm39)	R295*	probably null	Het
Eef2kmt	G	A	16: 5,066,959 (GRCm39)		probably benign	Het
Fn3krp	G	A	11: 121,312,430 (GRCm39)		probably null	Het
Gjc3	G	A	5: 137,955,809 (GRCm39)	L159F	probably damaging	Het
Gm28434	T	C	5: 88,127,147 (GRCm39)		probably benign	Het
Gp2	G	A	7: 119,053,821 (GRCm39)	P47S	possibly damaging	Het
Irf7	C	T	7: 140,844,732 (GRCm39)		probably benign	Het
Itgb8	T	C	12: 119,201,573 (GRCm39)		probably benign	Het
Kcnb2	A	T	1: 15,781,716 (GRCm39)	I863F	probably benign	Het
Lamb1	T	C	12: 31,348,908 (GRCm39)	F647L	possibly damaging	Het
Mccc1	T	A	3: 36,030,891 (GRCm39)	M392L	probably benign	Het
Mtmr10	T	C	7: 63,938,149 (GRCm39)		probably null	Het
Ncstn	A	C	1: 171,900,406 (GRCm39)	V223G	possibly damaging	Het
Neurl3	G	T	1: 36,308,571 (GRCm39)	F80L	probably damaging	Het
Nf1	T	C	11: 79,334,785 (GRCm39)	M869T	possibly damaging	Het
Nfatc2	A	G	2: 168,376,810 (GRCm39)		probably benign	Het
Nnat	T	C	2: 157,403,137 (GRCm39)	F26S	possibly damaging	Het
Nos1ap	T	C	1: 170,202,820 (GRCm39)	Y109C	probably damaging	Het
Nup205	T	A	6: 35,166,124 (GRCm39)	D194E	probably damaging	Het
Or10ak11	T	A	4: 118,687,308 (GRCm39)	I109L	probably benign	Het
Or52k2	C	T	7: 102,254,076 (GRCm39)	R172*	probably null	Het
Or5b109	A	T	19: 13,212,322 (GRCm39)	Q236L	probably benign	Het
Or9g3	A	T	2: 85,590,263 (GRCm39)	F152L	probably benign	Het
Ostf1	A	G	19: 18,558,677 (GRCm39)	L202S	probably benign	Het
Pdzrn4	T	A	15: 92,668,806 (GRCm39)	M747K	probably damaging	Het
Plxnb1	A	G	9: 108,935,521 (GRCm39)	D1019G	probably benign	Het
Pnlip	A	G	19: 58,661,595 (GRCm39)	I95V	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppp1r13b	T	A	12: 111,805,122 (GRCm39)	T197S	probably benign	Het
Rasgrp3	A	T	17: 75,810,370 (GRCm39)	I357F	probably damaging	Het
Rbmxl2	G	C	7: 106,809,044 (GRCm39)	G110R	probably damaging	Het
Relch	C	T	1: 105,654,109 (GRCm39)	T826I	possibly damaging	Het
Rgs22	T	C	15: 36,015,773 (GRCm39)	D1037G	possibly damaging	Het
Rnf215	A	G	11: 4,085,843 (GRCm39)	I107M	probably benign	Het
Rybp	A	T	6: 100,264,231 (GRCm39)	M3K	probably damaging	Het
Sgo2b	T	C	8: 64,379,590 (GRCm39)	S1081G	possibly damaging	Het
Slfn10-ps	C	T	11: 82,926,113 (GRCm39)		noncoding transcript	Het
Spag17	T	C	3: 99,963,468 (GRCm39)	V1062A	probably benign	Het
Sult2a1	A	T	7: 13,569,944 (GRCm39)	I96K	possibly damaging	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Thbs3	T	C	3: 89,130,692 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,179,066 (GRCm39)	L255S	possibly damaging	Het
Trank1	T	A	9: 111,222,026 (GRCm39)	L2921Q	probably benign	Het
Trappc14	A	T	5: 138,259,260 (GRCm39)		probably null	Het
Tuba8	A	T	6: 121,203,060 (GRCm39)		probably benign	Het
Vmn2r25	T	C	6: 123,805,451 (GRCm39)	I469V	probably benign	Het
Zfp1007	A	T	5: 109,823,502 (GRCm39)	Y649*	probably null	Het

Other mutations in Or3a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Or3a4	APN	11	73,945,301 (GRCm39)	missense	probably benign	0.41
R1344:Or3a4	UTSW	11	73,945,038 (GRCm39)	nonsense	probably null
R1496:Or3a4	UTSW	11	73,944,650 (GRCm39)	makesense	probably null
R1708:Or3a4	UTSW	11	73,944,814 (GRCm39)	missense	probably damaging	0.99
R1911:Or3a4	UTSW	11	73,945,210 (GRCm39)	missense	probably damaging	0.99
R2056:Or3a4	UTSW	11	73,944,819 (GRCm39)	nonsense	probably null
R3418:Or3a4	UTSW	11	73,944,814 (GRCm39)	missense	probably damaging	0.99
R5470:Or3a4	UTSW	11	73,944,733 (GRCm39)	missense	possibly damaging	0.90
R6150:Or3a4	UTSW	11	73,945,145 (GRCm39)	missense	probably benign	0.03
R6442:Or3a4	UTSW	11	73,945,505 (GRCm39)	missense	probably benign	0.00
R6687:Or3a4	UTSW	11	73,945,210 (GRCm39)	missense	probably damaging	0.99
R7195:Or3a4	UTSW	11	73,945,223 (GRCm39)	missense	probably damaging	1.00
R7942:Or3a4	UTSW	11	73,945,054 (GRCm39)	missense	probably damaging	1.00
R7957:Or3a4	UTSW	11	73,944,982 (GRCm39)	missense	probably damaging	1.00
R8052:Or3a4	UTSW	11	73,945,301 (GRCm39)	missense	probably benign	0.41
R8190:Or3a4	UTSW	11	73,945,305 (GRCm39)	missense	probably benign	0.01
R9316:Or3a4	UTSW	11	73,944,892 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTGACATTGGTTAAGGCC -3'
(R):5'- ATCCAACTCAATGAGCAGCTG -3'

Sequencing Primer
(F):5'- GCCAAAAGAAAAGAGTGTCATTAGTG -3'
(R):5'- GCTCTTTGTAGCAGCAGCC -3'

Posted On

2016-09-01