Mutagenetix > Incidental Mutation

Incidental Mutation 'R5009:Or2ad1'

390382

Institutional Source

Beutler Lab

Gene Symbol

Or2ad1

Ensembl Gene

ENSMUSG00000045474

Gene Name

olfactory receptor family 2 subfamily AD member 1

Synonyms

MOR256-15, Olfr1368, GA_x6K02T2QHY8-12104556-12105500

MMRRC Submission

042600-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R5009 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21326281-21327225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21326435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 264 (N264S)

Ref Sequence

ENSEMBL: ENSMUSP00000149549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055298] [ENSMUST00000216039]

AlphaFold

Q8VFG3

Predicted Effect

probably benign
Transcript: ENSMUST00000055298
AA Change: N264S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000050942
Gene: ENSMUSG00000045474
AA Change: N264S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.8e-49	PFAM
Pfam:7tm_1	41	290	1.6e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206267

Predicted Effect

probably benign
Transcript: ENSMUST00000216039
AA Change: N264S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (91/91)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	T	A	3: 37,487,426 (GRCm39)		probably benign	Het
Aim2	T	C	1: 173,282,932 (GRCm39)	Y5H	probably damaging	Het
Atosa	G	A	9: 74,916,171 (GRCm39)	E257K	probably damaging	Het
Atp7b	A	G	8: 22,517,714 (GRCm39)	S375P	possibly damaging	Het
BC106179	C	A	16: 23,043,192 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,776,787 (GRCm39)	N411K	probably benign	Het
Cacna1d	A	G	14: 29,801,289 (GRCm39)	V1386A	probably damaging	Het
Cuzd1	T	A	7: 130,913,252 (GRCm39)	Y455F	probably damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dot1l	G	T	10: 80,607,030 (GRCm39)	R108L	probably benign	Het
Dysf	T	C	6: 84,128,968 (GRCm39)	S1413P	probably damaging	Het
Eea1	C	A	10: 95,846,883 (GRCm39)	R388S	probably benign	Het
Elavl1	C	T	8: 4,351,723 (GRCm39)	R131Q	probably benign	Het
Erich6b	A	G	14: 75,902,596 (GRCm39)	T138A	possibly damaging	Het
Esr1	C	T	10: 4,662,394 (GRCm39)	T4I	probably damaging	Het
Ets1	T	C	9: 32,644,295 (GRCm39)	S152P	possibly damaging	Het
Fcsk	C	T	8: 111,614,462 (GRCm39)	C609Y	probably damaging	Het
Flrt2	T	C	12: 95,746,547 (GRCm39)	V295A	probably damaging	Het
Gm13196	A	G	2: 4,705,149 (GRCm39)		noncoding transcript	Het
Gm5965	T	A	16: 88,575,312 (GRCm39)	Y162N	probably benign	Het
Gm7853	A	T	14: 35,811,466 (GRCm39)		noncoding transcript	Het
Gm8126	C	T	14: 43,119,065 (GRCm39)	A178V	probably benign	Het
Gpihbp1	A	T	15: 75,469,570 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,774,858 (GRCm39)	T180A	possibly damaging	Het
Gsdme	C	T	6: 50,222,992 (GRCm39)	V108M	possibly damaging	Het
Gtpbp4	T	C	13: 9,039,102 (GRCm39)	Y157C	probably benign	Het
Gvin3	A	G	7: 106,200,767 (GRCm39)		noncoding transcript	Het
Hivep1	T	A	13: 42,312,229 (GRCm39)	F1490I	probably benign	Het
Il17ra	T	C	6: 120,459,168 (GRCm39)	V773A	probably benign	Het
Kctd8	T	A	5: 69,268,076 (GRCm39)	T345S	probably benign	Het
Kdm3b	T	C	18: 34,957,763 (GRCm39)	S1243P	probably benign	Het
Klhdc1	T	C	12: 69,298,712 (GRCm39)	V99A	possibly damaging	Het
Lars1	T	G	18: 42,354,612 (GRCm39)	E778D	probably benign	Het
Map7	C	T	10: 20,137,664 (GRCm39)	R279*	probably null	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Mtbp	A	G	15: 55,466,583 (GRCm39)	D532G	probably benign	Het
Mylk	G	A	16: 34,719,877 (GRCm39)	V597I	probably benign	Het
Necab1	A	G	4: 14,947,503 (GRCm39)		probably benign	Het
Nisch	C	T	14: 30,909,186 (GRCm39)		probably benign	Het
Nlrp1a	T	C	11: 71,013,531 (GRCm39)	D573G	probably benign	Het
Noct	C	A	3: 51,155,482 (GRCm39)	N83K	probably damaging	Het
Or10am5	A	G	7: 6,517,546 (GRCm39)	L294P	probably damaging	Het
Or1b1	C	T	2: 36,995,467 (GRCm39)	R65H	possibly damaging	Het
Or2a12	C	A	6: 42,904,367 (GRCm39)	D67E	probably damaging	Het
Or52n4b	A	G	7: 108,144,055 (GRCm39)	I106V	probably benign	Het
Or6b13	C	T	7: 139,781,751 (GRCm39)	A311T	probably benign	Het
Or6c201	T	C	10: 128,969,484 (GRCm39)	H51R	probably benign	Het
Osgepl1	T	A	1: 53,357,339 (GRCm39)	V167D	probably damaging	Het
Pabpc6	T	C	17: 9,887,489 (GRCm39)	E354G	probably damaging	Het
Pgghg	A	C	7: 140,523,303 (GRCm39)	D194A	probably benign	Het
Podnl1	A	T	8: 84,852,887 (GRCm39)	H19L	probably benign	Het
Pold1	G	T	7: 44,183,326 (GRCm39)	A977E	probably benign	Het
Poldip3	T	C	15: 83,017,395 (GRCm39)	T227A	probably damaging	Het
Prss43	A	G	9: 110,656,489 (GRCm39)	S59G	possibly damaging	Het
Ptpn14	T	A	1: 189,582,731 (GRCm39)	I526N	probably benign	Het
Ptprb	T	C	10: 116,184,032 (GRCm39)	S1615P	possibly damaging	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rab15	T	C	12: 76,847,341 (GRCm39)	E114G	probably damaging	Het
Rcvrn	A	G	11: 67,586,550 (GRCm39)	E103G	probably benign	Het
Repin1	T	A	6: 48,571,779 (GRCm39)		probably benign	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rtkn2	T	C	10: 67,877,239 (GRCm39)	V433A	probably benign	Het
Runx1t1	T	C	4: 13,865,231 (GRCm39)	I314T	possibly damaging	Het
Serpinb9c	A	C	13: 33,338,414 (GRCm39)	S190A	probably benign	Het
Shank2	C	A	7: 143,623,916 (GRCm39)	H300Q	probably benign	Het
Slc4a4	A	G	5: 89,297,157 (GRCm39)		probably null	Het
Slc5a8	T	C	10: 88,745,516 (GRCm39)	S375P	probably benign	Het
Spns3	C	A	11: 72,428,027 (GRCm39)	W251L	probably damaging	Het
Spta1	A	G	1: 174,067,789 (GRCm39)	N2072S	possibly damaging	Het
Sptbn1	A	G	11: 30,074,016 (GRCm39)	V1351A	probably benign	Het
Sytl2	A	T	7: 90,030,523 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tg	A	G	15: 66,568,435 (GRCm39)	D1374G	probably benign	Het
Tlr1	A	G	5: 65,083,567 (GRCm39)	S337P	probably damaging	Het
Trp63	A	T	16: 25,686,977 (GRCm39)	D303V	probably damaging	Het
Ttn	G	A	2: 76,683,250 (GRCm39)		probably benign	Het
Txndc5	T	C	13: 38,712,160 (GRCm39)		probably null	Het
Vmn2r77	T	G	7: 86,451,015 (GRCm39)	D300E	possibly damaging	Het
Zfp729a	A	T	13: 67,768,365 (GRCm39)	N621K	probably benign	Het

Other mutations in Or2ad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03354:Or2ad1	APN	13	21,326,654 (GRCm39)	missense	probably damaging	1.00
IGL03385:Or2ad1	APN	13	21,326,657 (GRCm39)	missense	probably benign	0.01
R0137:Or2ad1	UTSW	13	21,326,336 (GRCm39)	missense	possibly damaging	0.86
R1168:Or2ad1	UTSW	13	21,326,787 (GRCm39)	missense	probably benign	0.04
R1212:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1214:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1237:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1238:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1239:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1280:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1309:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1436:Or2ad1	UTSW	13	21,327,162 (GRCm39)	missense	probably benign	0.01
R1443:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1444:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1602:Or2ad1	UTSW	13	21,326,820 (GRCm39)	missense	probably damaging	0.99
R1627:Or2ad1	UTSW	13	21,327,125 (GRCm39)	missense	probably damaging	0.99
R1649:Or2ad1	UTSW	13	21,326,912 (GRCm39)	missense	probably damaging	1.00
R1781:Or2ad1	UTSW	13	21,326,934 (GRCm39)	missense	probably benign	0.08
R1858:Or2ad1	UTSW	13	21,326,564 (GRCm39)	missense	probably damaging	1.00
R2520:Or2ad1	UTSW	13	21,326,746 (GRCm39)	nonsense	probably null
R4873:Or2ad1	UTSW	13	21,326,450 (GRCm39)	missense	probably damaging	1.00
R4875:Or2ad1	UTSW	13	21,326,450 (GRCm39)	missense	probably damaging	1.00
R6222:Or2ad1	UTSW	13	21,327,047 (GRCm39)	missense	probably damaging	1.00
R7031:Or2ad1	UTSW	13	21,327,170 (GRCm39)	missense	probably benign
R7126:Or2ad1	UTSW	13	21,326,888 (GRCm39)	missense	probably damaging	1.00
R7691:Or2ad1	UTSW	13	21,327,140 (GRCm39)	missense	probably benign
R7875:Or2ad1	UTSW	13	21,327,093 (GRCm39)	missense	probably damaging	1.00
R7966:Or2ad1	UTSW	13	21,326,356 (GRCm39)	nonsense	probably null
R8015:Or2ad1	UTSW	13	21,326,303 (GRCm39)	missense	probably benign
R8155:Or2ad1	UTSW	13	21,327,062 (GRCm39)	missense	probably damaging	1.00
R8247:Or2ad1	UTSW	13	21,326,295 (GRCm39)	missense	probably benign
R8787:Or2ad1	UTSW	13	21,326,453 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ATCTGCCACTATGACAAGGGC -3'
(R):5'- ACTCCAGAGTGATTGAGATCGTTG -3'

Sequencing Primer
(F):5'- GACAAGGGCCAAGATATATTTCC -3'
(R):5'- TGGAGTCATATTTCTTCTAGTACCTC -3'

Posted On

2016-06-06