Mutagenetix > Incidental Mutation

Incidental Mutation 'R7493:Or4a2'

580901

Institutional Source

Beutler Lab

Gene Symbol

Or4a2

Ensembl Gene

ENSMUSG00000075088

Gene Name

olfactory receptor family 4 subfamily A member 2

Synonyms

GA_x6K02T2Q125-50861284-50860367, Olfr1239, MOR231-3

MMRRC Submission

045567-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7493 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89247838-89248755 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89248145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 204 (I204T)

Ref Sequence

ENSEMBL: ENSMUSP00000149898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099780] [ENSMUST00000216762] [ENSMUST00000217181]

AlphaFold

Q8VGM8

Predicted Effect

probably benign
Transcript: ENSMUST00000099780
AA Change: I204T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097368
Gene: ENSMUSG00000075088
AA Change: I204T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.5e-46	PFAM
Pfam:7tm_1	39	285	3.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216762
AA Change: I204T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000217181
AA Change: I204T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (74/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,257 (GRCm39)	L236P	possibly damaging	Het
Abca7	T	A	10: 79,837,896 (GRCm39)	D488E	probably damaging	Het
Adora2a	A	G	10: 75,169,423 (GRCm39)	K296E	possibly damaging	Het
Aopep	A	G	13: 63,163,345 (GRCm39)	D122G	probably benign	Het
Atp13a4	T	A	16: 29,290,774 (GRCm39)	E225V		Het
Bpifb2	A	G	2: 153,731,397 (GRCm39)	M258V	possibly damaging	Het
Brd2	G	A	17: 34,341,231 (GRCm39)		probably benign	Het
Btaf1	G	T	19: 36,987,005 (GRCm39)	V1700F	probably damaging	Het
C2cd3	A	G	7: 100,076,433 (GRCm39)	I797V		Het
Ccdc148	T	G	2: 58,899,160 (GRCm39)	E71A	probably damaging	Het
Ccdc18	T	A	5: 108,354,483 (GRCm39)	L1074*	probably null	Het
Ccne2	A	G	4: 11,198,772 (GRCm39)	D215G	probably damaging	Het
Cers6	T	A	2: 68,692,151 (GRCm39)		probably null	Het
Copz1	A	G	15: 103,204,971 (GRCm39)	E110G	probably damaging	Het
Cped1	A	T	6: 22,215,512 (GRCm39)	D682V	probably damaging	Het
Crb1	A	T	1: 139,164,768 (GRCm39)	C1180S	probably damaging	Het
Cyren	A	T	6: 34,851,593 (GRCm39)	L114Q	probably damaging	Het
Echdc3	A	T	2: 6,194,368 (GRCm39)	L229Q	probably damaging	Het
Etfb	C	T	7: 43,104,000 (GRCm39)	P145L	probably damaging	Het
Exoc3l2	G	T	7: 19,203,813 (GRCm39)	R135L		Het
Fam83a	G	A	15: 57,849,569 (GRCm39)	A38T	probably damaging	Het
G6pc2	T	C	2: 69,053,344 (GRCm39)	Y133H	probably benign	Het
Gfy	T	C	7: 44,827,518 (GRCm39)	I193V	probably benign	Het
Ggnbp2	T	C	11: 84,744,899 (GRCm39)	T208A	probably benign	Het
Gigyf1	T	A	5: 137,523,795 (GRCm39)	M1019K	probably damaging	Het
Gm45783	T	C	7: 7,373,599 (GRCm39)	D61G	probably damaging	Het
Golga5	T	C	12: 102,450,835 (GRCm39)		probably null	Het
Ighe	A	G	12: 113,235,023 (GRCm39)	V379A		Het
Itpr3	C	A	17: 27,313,774 (GRCm39)	H573Q	probably benign	Het
Klhl2	A	G	8: 65,202,809 (GRCm39)	L463P	probably damaging	Het
Large1	T	G	8: 73,550,343 (GRCm39)	M619L	probably benign	Het
Limd1	T	A	9: 123,308,748 (GRCm39)	V149E	probably benign	Het
Lyz2	T	C	10: 117,118,144 (GRCm39)	K2E	probably damaging	Het
Man2c1	T	A	9: 57,048,412 (GRCm39)	S858T	probably damaging	Het
Nt5dc1	A	T	10: 34,180,932 (GRCm39)	N439K	probably benign	Het
Or4n4b	G	A	14: 50,536,281 (GRCm39)	L162F	probably benign	Het
Or4p7	T	C	2: 88,222,224 (GRCm39)	V211A	possibly damaging	Het
Or51f1	A	T	7: 102,506,278 (GRCm39)	Y70*	probably null	Het
Or5d43	T	C	2: 88,105,445 (GRCm39)		probably benign	Het
Or7g27	A	C	9: 19,250,109 (GRCm39)	M118L	probably damaging	Het
Otogl	T	C	10: 107,722,843 (GRCm39)	N296S	probably benign	Het
Patj	A	G	4: 98,383,298 (GRCm39)	N789D	probably benign	Het
Pcsk6	A	G	7: 65,693,314 (GRCm39)	D851G	possibly damaging	Het
Peg3	T	C	7: 6,712,723 (GRCm39)	H833R	probably damaging	Het
Pira1	T	C	7: 3,742,023 (GRCm39)	E119G	not run	Het
Plekha5	A	G	6: 140,526,161 (GRCm39)	D933G	probably benign	Het
Pnma1	G	A	12: 84,193,903 (GRCm39)	R267C	probably damaging	Het
Ppp3cb	T	A	14: 20,558,619 (GRCm39)	H481L	probably benign	Het
Prl8a8	T	C	13: 27,695,418 (GRCm39)		probably null	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Ptpro	C	A	6: 137,359,647 (GRCm39)	L406I	probably benign	Het
Rbpj	T	C	5: 53,758,276 (GRCm39)	S18P	probably benign	Het
Rhbg	C	T	3: 88,154,886 (GRCm39)	V173M	probably damaging	Het
Rps6kc1	A	G	1: 190,532,254 (GRCm39)	S583P	probably benign	Het
Ryr1	T	C	7: 28,794,630 (GRCm39)	S1217G	probably benign	Het
S1pr1	A	T	3: 115,505,922 (GRCm39)	I224N	probably damaging	Het
Sall1	C	T	8: 89,757,681 (GRCm39)	D808N	probably benign	Het
Shoc2	T	C	19: 53,976,467 (GRCm39)	V119A	probably benign	Het
Spata31h1	A	T	10: 82,124,798 (GRCm39)	Y2737*	probably null	Het
Spata31h1	T	C	10: 82,152,264 (GRCm39)	Y34C	unknown	Het
Ssh2	A	T	11: 77,328,542 (GRCm39)	E369D	probably benign	Het
Stx1b	C	T	7: 127,406,531 (GRCm39)	V273M	possibly damaging	Het
Syne2	A	G	12: 76,012,654 (GRCm39)	H2615R	probably benign	Het
Tmc8	T	C	11: 117,675,758 (GRCm39)	I225T	probably benign	Het
Tmem126b	A	G	7: 90,121,854 (GRCm39)	I52T	probably benign	Het
Top2b	G	A	14: 16,416,605 (GRCm38)	D1122N	probably benign	Het
Trav13-2	T	A	14: 53,872,363 (GRCm39)	S7T	possibly damaging	Het
Ttc1	A	T	11: 43,636,189 (GRCm39)	L18Q	probably damaging	Het
Ttn	A	T	2: 76,567,553 (GRCm39)	I27780N	probably damaging	Het
Ubfd1	T	C	7: 121,666,635 (GRCm39)	S44P	probably benign	Het
Vmn1r89	A	G	7: 12,953,632 (GRCm39)	K123E	probably damaging	Het
Vmn2r62	A	C	7: 42,437,316 (GRCm39)	F389L	possibly damaging	Het
Vps35l	C	T	7: 118,393,800 (GRCm39)		probably null	Het
Zdhhc11	T	A	13: 74,121,726 (GRCm39)	M79K	possibly damaging	Het
Zfp202	G	T	9: 40,118,640 (GRCm39)	V18F	possibly damaging	Het
Zfp39	A	G	11: 58,781,869 (GRCm39)	F298L	possibly damaging	Het
Znrf1	G	A	8: 112,264,071 (GRCm39)	G100D	probably damaging	Het

Other mutations in Or4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03186:Or4a2	APN	2	89,248,188 (GRCm39)	missense	probably damaging	0.99
PIT4810001:Or4a2	UTSW	2	89,248,297 (GRCm39)	missense	probably damaging	1.00
R0271:Or4a2	UTSW	2	89,248,502 (GRCm39)	missense	probably benign	0.00
R0521:Or4a2	UTSW	2	89,248,544 (GRCm39)	missense	probably damaging	1.00
R0667:Or4a2	UTSW	2	89,248,032 (GRCm39)	missense	probably benign	0.05
R1738:Or4a2	UTSW	2	89,248,362 (GRCm39)	missense	probably benign	0.02
R1955:Or4a2	UTSW	2	89,248,755 (GRCm39)	start codon destroyed	probably damaging	1.00
R3114:Or4a2	UTSW	2	89,248,757 (GRCm39)	splice site	probably null
R4110:Or4a2	UTSW	2	89,248,444 (GRCm39)	missense	probably benign	0.01
R4111:Or4a2	UTSW	2	89,248,444 (GRCm39)	missense	probably benign	0.01
R4796:Or4a2	UTSW	2	89,248,235 (GRCm39)	missense	probably damaging	0.99
R4951:Or4a2	UTSW	2	89,248,116 (GRCm39)	missense	probably benign	0.01
R5751:Or4a2	UTSW	2	89,248,031 (GRCm39)	missense	probably damaging	1.00
R6331:Or4a2	UTSW	2	89,248,695 (GRCm39)	missense	probably benign	0.04
R7249:Or4a2	UTSW	2	89,248,217 (GRCm39)	missense	probably damaging	1.00
R7352:Or4a2	UTSW	2	89,248,311 (GRCm39)	missense	probably damaging	1.00
R7476:Or4a2	UTSW	2	89,247,843 (GRCm39)	missense	possibly damaging	0.69
R7589:Or4a2	UTSW	2	89,248,724 (GRCm39)	missense	possibly damaging	0.82
R9091:Or4a2	UTSW	2	89,248,712 (GRCm39)	missense	probably damaging	1.00
R9270:Or4a2	UTSW	2	89,248,712 (GRCm39)	missense	probably damaging	1.00
R9749:Or4a2	UTSW	2	89,248,662 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TGGGTAAAGTAGATGGAGGTCTCAC -3'
(R):5'- ACCATCATGAACCAACGTGTG -3'

Sequencing Primer
(F):5'- GGTCTCACATACATAAAAATACAGGG -3'
(R):5'- AACCAACGTGTGTGTGTTTTGC -3'

Posted On

2019-10-17