Mutagenetix > Incidental Mutation

Incidental Mutation 'R1708:Or3a4'

190245

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

039741-MU

Accession Numbers

Essential gene?

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

Stock #

R1708 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73944602-73945604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73944814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 257 (T257I)

Ref Sequence

ENSEMBL: ENSMUSP00000149917 (fasta)

Gene Model

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

AlphaFold

Q7TRX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000059440
AA Change: T257I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056508
Gene: ENSMUSG00000043692
AA Change: T257I

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 damaging
Transcript: ENSMUST00000215915
AA Change: T257I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	A	T	6: 40,941,732 (GRCm39)	I4F	probably benign	Het
Aadacl4fm1	T	C	4: 144,246,511 (GRCm39)	V19A	probably benign	Het
Abca8a	A	T	11: 109,943,928 (GRCm39)	S1114T	probably damaging	Het
Adgre1	A	T	17: 57,708,974 (GRCm39)	Y55F	possibly damaging	Het
Alb	A	C	5: 90,611,910 (GRCm39)	D113A	possibly damaging	Het
Ankrd33b	C	T	15: 31,305,155 (GRCm39)	R203Q	probably damaging	Het
Aqp6	T	C	15: 99,500,543 (GRCm39)	V156A	possibly damaging	Het
AU018091	T	C	7: 3,206,184 (GRCm39)	S616G	probably damaging	Het
Cfd	T	A	10: 79,727,441 (GRCm39)	D68E	probably benign	Het
Cntn2	C	T	1: 132,446,936 (GRCm39)	A725T	probably damaging	Het
Copg2	A	C	6: 30,801,312 (GRCm39)	D373E	probably damaging	Het
Cyp2d11	T	C	15: 82,274,633 (GRCm39)	T315A	probably benign	Het
Cyp2j13	G	T	4: 95,950,304 (GRCm39)	N232K	probably damaging	Het
Cyp2j8	A	T	4: 96,387,832 (GRCm39)	F210I	probably damaging	Het
Dnah9	G	A	11: 65,805,980 (GRCm39)	T3373M	probably benign	Het
Eif2ak3	A	G	6: 70,864,790 (GRCm39)	K549E	probably damaging	Het
Epha3	C	T	16: 63,403,870 (GRCm39)	V744I	probably damaging	Het
Erich6	T	C	3: 58,523,868 (GRCm39)	S669G	probably benign	Het
Fam90a1a	A	T	8: 22,451,464 (GRCm39)	K108N	probably damaging	Het
Fat1	G	A	8: 45,477,829 (GRCm39)	V2292M	probably damaging	Het
Fibp	T	C	19: 5,513,822 (GRCm39)	C255R	probably null	Het
Fzd1	A	G	5: 4,805,791 (GRCm39)	V597A	possibly damaging	Het
Gm12790	G	A	4: 101,825,174 (GRCm39)	A80V	possibly damaging	Het
Gm2381	A	T	7: 42,469,649 (GRCm39)	N158K	probably benign	Het
Impg2	T	A	16: 56,085,441 (GRCm39)	D940E	probably benign	Het
Ints1	A	T	5: 139,748,594 (GRCm39)	V1071E	probably damaging	Het
Kat5	A	T	19: 5,659,507 (GRCm39)	Y44*	probably null	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra6	A	C	6: 129,999,677 (GRCm39)	L97*	probably null	Het
Ly6c2	C	T	15: 74,983,469 (GRCm39)		probably null	Het
Mon1a	G	A	9: 107,775,917 (GRCm39)	E12K	probably benign	Het
Myo3b	A	T	2: 70,075,729 (GRCm39)	K578*	probably null	Het
Myrip	A	T	9: 120,293,840 (GRCm39)	R778S	possibly damaging	Het
Ncoa4-ps	A	G	12: 119,225,968 (GRCm39)		noncoding transcript	Het
Or2w4	C	T	13: 21,795,240 (GRCm39)	A300T	probably damaging	Het
Or4c35	A	G	2: 89,808,382 (GRCm39)	R87G	probably benign	Het
Or52n4b	T	A	7: 108,143,781 (GRCm39)	F14L	probably benign	Het
Or5b121	T	C	19: 13,507,277 (GRCm39)	V80A	probably damaging	Het
Panx3	T	C	9: 37,572,687 (GRCm39)	I288V	probably benign	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pigc	T	A	1: 161,798,293 (GRCm39)	S92T	probably benign	Het
Pou3f2	C	A	4: 22,487,255 (GRCm39)	V293L	possibly damaging	Het
Rbm15	A	G	3: 107,238,536 (GRCm39)	S621P	probably damaging	Het
Rnf220	T	C	4: 117,347,083 (GRCm39)	S110G	probably benign	Het
Rnf38	A	T	4: 44,143,593 (GRCm39)	V115D	probably damaging	Het
Rps6ka2	A	G	17: 7,544,929 (GRCm39)	H347R	probably damaging	Het
Ryr2	T	C	13: 11,602,328 (GRCm39)		probably null	Het
Sema4f	G	T	6: 82,894,975 (GRCm39)	P407T	probably damaging	Het
Setbp1	T	C	18: 78,901,682 (GRCm39)	T662A	probably damaging	Het
Slc27a1	C	A	8: 72,037,274 (GRCm39)		probably null	Het
Slc41a2	T	A	10: 83,069,596 (GRCm39)	I519F	probably damaging	Het
Sntg2	C	T	12: 30,423,179 (GRCm39)	S17N	possibly damaging	Het
Sptb	A	G	12: 76,659,348 (GRCm39)	L1184P	probably damaging	Het
Taf5l	G	A	8: 124,736,509 (GRCm39)	Q21*	probably null	Het
Tbc1d32	A	C	10: 56,027,865 (GRCm39)	S746A	possibly damaging	Het
Tdrd1	T	G	19: 56,830,721 (GRCm39)	S251R	probably benign	Het
Thap7	C	T	16: 17,346,814 (GRCm39)	R121Q	probably benign	Het
Tmem50a	A	G	4: 134,625,779 (GRCm39)	V146A	probably benign	Het
Tmprss15	T	C	16: 78,850,958 (GRCm39)	I327V	possibly damaging	Het
Tmt1a3	A	G	15: 100,233,150 (GRCm39)	N114D	probably damaging	Het
Ttc23	T	C	7: 67,316,924 (GRCm39)	I65T	probably damaging	Het
Vmn1r22	G	T	6: 57,877,481 (GRCm39)	H165Q	possibly damaging	Het
Vopp1	C	T	6: 57,739,497 (GRCm39)	R17H	probably damaging	Het
Vwa5a	A	G	9: 38,639,128 (GRCm39)	K337E	probably benign	Het
Wrap53	G	A	11: 69,454,761 (GRCm39)	R203*	probably null	Het
Zfp944	T	C	17: 22,558,026 (GRCm39)	Y407C	probably damaging	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
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
R5444:Or3a4	UTSW	11	73,944,803 (GRCm39)	missense	probably benign	0.19
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'- ATTAGTGGGCTACCTCCCTGTGAG -3'
(R):5'- GATCGTTATCTGGCTATCTGCCACC -3'

Sequencing Primer
(F):5'- TGTGAGCACCTTCCGTAGG -3'
(R):5'- GTAATGCACTGACCCAAACTGTTG -3'

Posted On

2014-05-14