Mutagenetix > Incidental Mutation

Incidental Mutation 'R7966:Or2ad1'

650388

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

046009-MU

Accession Numbers

Essential gene?

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

Stock #

R7966 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21326281-21327225 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 21326356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 290 (Y290*)

Ref Sequence

ENSEMBL: ENSMUSP00000149549 (fasta)

Gene Model

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

AlphaFold

Q8VFG3

Predicted Effect

probably null
Transcript: ENSMUST00000055298
AA Change: Y290*

SMART Domains

Protein: ENSMUSP00000050942
Gene: ENSMUSG00000045474
AA Change: Y290*

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

probably null
Transcript: ENSMUST00000216039
AA Change: Y290*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (52/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,219,903 (GRCm39)	I817L	probably benign	Het
Adcy8	A	T	15: 64,573,939 (GRCm39)	W1055R	probably damaging	Het
Anks4b	A	G	7: 119,781,923 (GRCm39)	E318G	probably benign	Het
Arid3a	A	G	10: 79,767,889 (GRCm39)	T229A	probably benign	Het
Cckar	T	C	5: 53,858,580 (GRCm39)	K247E	possibly damaging	Het
Cfap52	A	T	11: 67,844,571 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,363,449 (GRCm39)	V538A	probably damaging	Het
Cped1	T	C	6: 22,059,953 (GRCm39)		probably null	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cyp4v3	G	T	8: 45,785,954 (GRCm39)	A21E	probably benign	Het
Cytip	T	C	2: 58,037,944 (GRCm39)	E140G	probably damaging	Het
D130043K22Rik	A	C	13: 25,077,406 (GRCm39)	Q1013P	probably damaging	Het
Dpp6	A	G	5: 27,928,370 (GRCm39)	M763V	probably benign	Het
Eps15	T	A	4: 109,178,340 (GRCm39)	Y193N	probably damaging	Het
Ghrhr	T	C	6: 55,356,083 (GRCm39)	W59R	probably damaging	Het
Hdac4	A	G	1: 91,861,402 (GRCm39)	V1056A	possibly damaging	Het
Ipcef1	T	C	10: 6,850,668 (GRCm39)	T312A	probably damaging	Het
Itpr3	T	C	17: 27,331,002 (GRCm39)		probably null	Het
Kif6	A	G	17: 49,993,453 (GRCm39)	I182V	probably damaging	Het
Lcn3	A	G	2: 25,656,389 (GRCm39)	K90E	probably damaging	Het
Lig3	T	C	11: 82,681,342 (GRCm39)	S446P	probably damaging	Het
Ncln	G	A	10: 81,326,103 (GRCm39)	Q283*	probably null	Het
Nlrp4c	A	G	7: 6,069,322 (GRCm39)	T408A	probably damaging	Het
Oas1h	T	C	5: 121,009,962 (GRCm39)	F346L	probably damaging	Het
Olig2	AGCCGCCGCCGCCGCCGCAGCCGCCGCCGCCGC	AGCCGCCGCCGCCGCAGCCGCCGCCGCCGC	16: 91,023,962 (GRCm39)		probably benign	Het
Or52b4	T	C	7: 102,184,623 (GRCm39)	I223T	probably damaging	Het
Or52s1b	A	T	7: 102,822,062 (GRCm39)	F261I	probably damaging	Het
Or8b55	A	G	9: 38,727,536 (GRCm39)	I246V	probably benign	Het
Pdcd1	A	T	1: 93,969,186 (GRCm39)	V44E	probably damaging	Het
Prdm13	A	T	4: 21,679,932 (GRCm39)	I186N	unknown	Het
Prpf4b	A	G	13: 35,085,428 (GRCm39)	D958G	probably damaging	Het
Prss59	A	T	6: 40,903,022 (GRCm39)	Y117N	probably benign	Het
Prune2	A	G	19: 17,156,223 (GRCm39)	N2792S	probably damaging	Het
Robo1	T	A	16: 72,780,760 (GRCm39)	I830N	possibly damaging	Het
Scaper	A	G	9: 55,669,611 (GRCm39)	V355A	probably damaging	Het
Scn3b	C	T	9: 40,193,846 (GRCm39)	A191V	probably benign	Het
Slc13a3	G	C	2: 165,272,155 (GRCm39)	S296C	probably benign	Het
Slc6a16	T	A	7: 44,917,477 (GRCm39)	I445N	possibly damaging	Het
Snrnp35	A	G	5: 124,628,565 (GRCm39)	Y126C	possibly damaging	Het
Spock2	A	G	10: 59,957,554 (GRCm39)	H98R	possibly damaging	Het
Sptssb	A	T	3: 69,728,286 (GRCm39)	Y50*	probably null	Het
Syne1	A	G	10: 5,066,965 (GRCm39)		probably null	Het
Tcf21	T	C	10: 22,695,706 (GRCm39)	T33A	probably benign	Het
Tecta	A	G	9: 42,306,258 (GRCm39)	F57L	probably damaging	Het
Tgs1	C	A	4: 3,586,215 (GRCm39)	P364H	probably benign	Het
Tmem242	A	G	17: 5,461,711 (GRCm39)	I119T	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vmn2r3	T	A	3: 64,186,235 (GRCm39)	N150I	probably damaging	Het
Vmn2r69	A	G	7: 85,060,762 (GRCm39)	I274T	possibly damaging	Het
Vwf	T	A	6: 125,616,304 (GRCm39)	L1206*	probably null	Het
Zfp157	T	A	5: 138,445,833 (GRCm39)	W63R	probably benign	Het
Zfp455	T	C	13: 67,347,302 (GRCm39)	Y10H	probably benign	Het
Zfp654	T	C	16: 64,605,239 (GRCm39)	T447A	probably damaging	Het
Zhx2	T	C	15: 57,685,063 (GRCm39)	I144T	probably damaging	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
R5009:Or2ad1	UTSW	13	21,326,435 (GRCm39)	missense	probably benign	0.01
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
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'- TGTGCCTGAGAAAATTCTAGGTAC -3'
(R):5'- GCTGTGATGAAGATCAAGTCAGC -3'

Sequencing Primer
(F):5'- TTCTAGGTACAGATGATGCCAG -3'
(R):5'- CGACAAGGTGGAGAAAGGTCCTC -3'

Posted On

2020-09-15