Mutagenetix > Incidental Mutation

Incidental Mutation 'R5244:Or2ag1b'

401055

Institutional Source

Beutler Lab

Gene Symbol

Or2ag1b

Ensembl Gene

ENSMUSG00000064223

Gene Name

olfactory receptor family 2 subfamily AG member 1B

Synonyms

MOR283-9, GA_x6K02T2PBJ9-9067220-9066273, Olfr694

MMRRC Submission

042815-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R5244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106287989-106288936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106288396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 181 (I181F)

Ref Sequence

ENSEMBL: ENSMUSP00000151027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052535] [ENSMUST00000082091] [ENSMUST00000216118] [ENSMUST00000216895]

AlphaFold

K7N641

Predicted Effect

probably benign
Transcript: ENSMUST00000052535
AA Change: I181F

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000057180
Gene: ENSMUSG00000064223
AA Change: I181F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	4.1e-43	PFAM
Pfam:7tm_1	41	290	9.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082091
AA Change: I181F

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000080740
Gene: ENSMUSG00000064223
AA Change: I181F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.6e-47	PFAM
Pfam:7TM_GPCR_Srsx	35	305	7.6e-6	PFAM
Pfam:7tm_1	41	290	7.1e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208331

Predicted Effect

probably benign
Transcript: ENSMUST00000216118
AA Change: I181F

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216895
AA Change: I181F

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.1456

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (63/65)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	G	T	9: 53,323,098 (GRCm39)	G45W	probably damaging	Het
Abca13	C	T	11: 9,225,081 (GRCm39)	T520I	probably benign	Het
Adamtsl3	C	T	7: 82,247,277 (GRCm39)	P485L	probably benign	Het
Bbof1	A	C	12: 84,476,847 (GRCm39)	E492A	possibly damaging	Het
Capn11	T	C	17: 45,944,818 (GRCm39)	E483G	probably damaging	Het
Cbs	C	T	17: 31,836,134 (GRCm39)	G438D	probably damaging	Het
Chil6	A	G	3: 106,297,290 (GRCm39)	Y284H	probably damaging	Het
Cops4	C	A	5: 100,681,241 (GRCm39)	Q131K	probably benign	Het
Cul4a	T	C	8: 13,196,566 (GRCm39)	I740T	probably damaging	Het
Cyfip1	C	T	7: 55,574,947 (GRCm39)	T1066I	probably damaging	Het
Dnah7b	T	C	1: 46,273,018 (GRCm39)	L2382P	probably damaging	Het
Ehd3	A	T	17: 74,136,995 (GRCm39)	H388L	probably benign	Het
Fam13a	G	T	6: 58,930,459 (GRCm39)	Y484*	probably null	Het
Gm5117	A	G	8: 32,228,305 (GRCm39)		noncoding transcript	Het
Gulp1	G	A	1: 44,827,613 (GRCm39)	D260N	probably damaging	Het
Hhipl1	T	A	12: 108,278,393 (GRCm39)	N240K	probably damaging	Het
Hydin	A	T	8: 111,259,451 (GRCm39)	E2474D	possibly damaging	Het
Ifi207	C	T	1: 173,557,503 (GRCm39)	V412I	probably benign	Het
Ighv9-4	T	C	12: 114,263,871 (GRCm39)	I21V	probably benign	Het
Kcnh1	A	T	1: 191,907,184 (GRCm39)	T79S	probably benign	Het
Kpna6	A	G	4: 129,549,221 (GRCm39)		probably null	Het
Lnpk	C	T	2: 74,362,232 (GRCm39)	G262D	probably damaging	Het
Lsm7	T	C	10: 80,688,907 (GRCm39)	E66G	probably benign	Het
Mbd3l1	T	A	9: 18,395,933 (GRCm39)	C19*	probably null	Het
Mfsd6l	T	A	11: 68,448,001 (GRCm39)	L284Q	possibly damaging	Het
Naip5	C	T	13: 100,382,170 (GRCm39)	V180I	probably benign	Het
Or2j6	A	T	7: 139,980,051 (GRCm39)	C303S	probably benign	Het
Or4k39	T	A	2: 111,238,899 (GRCm39)		noncoding transcript	Het
Or6d13	T	A	6: 116,518,187 (GRCm39)	Y258N	probably damaging	Het
Or7g22	A	T	9: 19,049,147 (GRCm39)	N286I	probably damaging	Het
Or8g20	T	G	9: 39,395,808 (GRCm39)	H247P	probably damaging	Het
Or8u10	C	G	2: 85,915,300 (GRCm39)	A274P	probably damaging	Het
Pck1	T	A	2: 172,996,656 (GRCm39)	I190N	possibly damaging	Het
Pfkfb3	T	A	2: 11,489,660 (GRCm39)	I209F	probably damaging	Het
Phc1	A	G	6: 122,298,938 (GRCm39)	S677P	probably damaging	Het
Pirb	G	A	7: 3,719,062 (GRCm39)	A609V	probably benign	Het
Plag1	A	T	4: 3,903,887 (GRCm39)	S435T	probably benign	Het
Plscr2	C	G	9: 92,173,102 (GRCm39)	L215V	probably benign	Het
Pnma8a	A	G	7: 16,695,248 (GRCm39)	S368G	probably damaging	Het
Polr2b	A	G	5: 77,490,847 (GRCm39)		probably benign	Het
Pthlh	T	C	6: 147,158,651 (GRCm39)	Y103C	probably damaging	Het
Ptprq	A	G	10: 107,422,556 (GRCm39)	V1612A	possibly damaging	Het
Rprd2	T	A	3: 95,697,494 (GRCm39)	I85L	possibly damaging	Het
Slc27a2	T	C	2: 126,420,775 (GRCm39)	V422A	probably benign	Het
Slc29a1	T	C	17: 45,899,339 (GRCm39)		probably benign	Het
Slc36a4	A	T	9: 15,645,574 (GRCm39)	I334F	probably benign	Het
Slc4a10	T	A	2: 62,119,069 (GRCm39)	S761R	probably damaging	Het
Spa17	T	A	9: 37,523,285 (GRCm39)	M1L	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stk19	A	G	17: 35,051,046 (GRCm39)	L72P	probably damaging	Het
Trhde	T	C	10: 114,636,986 (GRCm39)	M74V	probably benign	Het
Trim37	C	T	11: 87,109,083 (GRCm39)	H937Y	probably benign	Het
Ttc7b	A	G	12: 100,314,269 (GRCm39)	L46P	probably damaging	Het
Ttll4	T	C	1: 74,735,607 (GRCm39)	V1005A	probably benign	Het
Ugt2b36	T	C	5: 87,239,765 (GRCm39)	T207A	probably damaging	Het
Unc13c	C	T	9: 73,433,233 (GRCm39)		probably null	Het
Vmn1r221	T	C	13: 23,401,808 (GRCm39)		noncoding transcript	Het
Vmn2r101	T	C	17: 19,831,788 (GRCm39)	S595P	probably damaging	Het
Wnt10a	T	C	1: 74,842,454 (GRCm39)	L310P	probably damaging	Het
Yif1b	G	A	7: 28,943,866 (GRCm39)	A115T	probably damaging	Het
Zfp219	C	A	14: 52,245,999 (GRCm39)	R331L	possibly damaging	Het

Other mutations in Or2ag1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Or2ag1b	APN	7	106,288,738 (GRCm39)	missense	probably damaging	1.00
IGL01759:Or2ag1b	APN	7	106,288,540 (GRCm39)	missense	probably benign	0.04
IGL02435:Or2ag1b	APN	7	106,288,710 (GRCm39)	missense	probably benign	0.26
IGL02569:Or2ag1b	APN	7	106,288,849 (GRCm39)	missense	probably benign	0.19
IGL02611:Or2ag1b	APN	7	106,287,996 (GRCm39)	missense	probably benign	0.11
IGL02726:Or2ag1b	APN	7	106,288,577 (GRCm39)	nonsense	probably null
IGL02944:Or2ag1b	APN	7	106,288,476 (GRCm39)	missense	probably damaging	1.00
IGL03155:Or2ag1b	APN	7	106,288,446 (GRCm39)	missense	probably damaging	1.00
R0238:Or2ag1b	UTSW	7	106,288,462 (GRCm39)	missense	probably benign	0.00
R0238:Or2ag1b	UTSW	7	106,288,462 (GRCm39)	missense	probably benign	0.00
R0239:Or2ag1b	UTSW	7	106,288,462 (GRCm39)	missense	probably benign	0.00
R0239:Or2ag1b	UTSW	7	106,288,462 (GRCm39)	missense	probably benign	0.00
R0609:Or2ag1b	UTSW	7	106,288,205 (GRCm39)	missense	probably damaging	1.00
R0655:Or2ag1b	UTSW	7	106,288,632 (GRCm39)	missense	probably damaging	1.00
R1562:Or2ag1b	UTSW	7	106,288,187 (GRCm39)	missense	probably benign	0.01
R1641:Or2ag1b	UTSW	7	106,288,918 (GRCm39)	missense	probably benign	0.36
R2144:Or2ag1b	UTSW	7	106,288,164 (GRCm39)	missense	probably damaging	0.99
R4416:Or2ag1b	UTSW	7	106,288,218 (GRCm39)	missense	probably benign	0.07
R4444:Or2ag1b	UTSW	7	106,288,353 (GRCm39)	missense	possibly damaging	0.60
R4445:Or2ag1b	UTSW	7	106,288,353 (GRCm39)	missense	possibly damaging	0.60
R4567:Or2ag1b	UTSW	7	106,288,420 (GRCm39)	nonsense	probably null
R4739:Or2ag1b	UTSW	7	106,288,351 (GRCm39)	nonsense	probably null
R4778:Or2ag1b	UTSW	7	106,288,874 (GRCm39)	missense	probably damaging	0.97
R4908:Or2ag1b	UTSW	7	106,288,740 (GRCm39)	missense	probably damaging	1.00
R5944:Or2ag1b	UTSW	7	106,288,853 (GRCm39)	nonsense	probably null
R6260:Or2ag1b	UTSW	7	106,288,079 (GRCm39)	missense	probably damaging	1.00
R6573:Or2ag1b	UTSW	7	106,288,670 (GRCm39)	missense	probably benign	0.00
R6901:Or2ag1b	UTSW	7	106,288,396 (GRCm39)	missense	probably benign	0.03
R7230:Or2ag1b	UTSW	7	106,288,731 (GRCm39)	missense	possibly damaging	0.94
R7420:Or2ag1b	UTSW	7	106,288,227 (GRCm39)	missense	possibly damaging	0.74
R7426:Or2ag1b	UTSW	7	106,288,417 (GRCm39)	missense	possibly damaging	0.88
R8400:Or2ag1b	UTSW	7	106,288,876 (GRCm39)	missense	probably benign	0.25
R8879:Or2ag1b	UTSW	7	106,288,296 (GRCm39)	missense	probably damaging	1.00
R9284:Or2ag1b	UTSW	7	106,288,416 (GRCm39)	missense	possibly damaging	0.88
R9304:Or2ag1b	UTSW	7	106,288,880 (GRCm39)	missense	probably benign	0.04
U24488:Or2ag1b	UTSW	7	106,288,296 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAACCACAGTCAGATGGGAAG -3'
(R):5'- CCTTCATGGCCTATGACAGG -3'

Sequencing Primer
(F):5'- CCACAGTCAGATGGGAAGAGCAG -3'
(R):5'- CCTATGACAGGTATGTGGCC -3'

Posted On

2016-07-06