Mutagenetix > Incidental Mutation

Incidental Mutation 'R6528:Or13a22'

522078

Institutional Source

Beutler Lab

Gene Symbol

Or13a22

Ensembl Gene

ENSMUSG00000063230

Gene Name

olfactory receptor family 13 subfamily A member 22

Synonyms

Olfr535, GA_x6K02T2PBJ9-42641642-42642574, MOR253-7

MMRRC Submission

044654-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R6528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140072553-140073491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140072964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 138 (M138V)

Ref Sequence

ENSEMBL: ENSMUSP00000149412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074897] [ENSMUST00000213715] [ENSMUST00000214296] [ENSMUST00000216585] [ENSMUST00000217235] [ENSMUST00000217580]

AlphaFold

Q8VGL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000074897
AA Change: M138V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074435
Gene: ENSMUSG00000063230
AA Change: M138V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	309	4.5e-50	PFAM
Pfam:7TM_GPCR_Srsx	37	183	1.1e-8	PFAM
Pfam:7tm_1	43	292	5.8e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213339

Predicted Effect

probably damaging
Transcript: ENSMUST00000213715
AA Change: M138V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214296
AA Change: M138V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216585
AA Change: M138V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216962

Predicted Effect

probably damaging
Transcript: ENSMUST00000217235
AA Change: M138V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217580
AA Change: M138V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	C	T	8: 56,325,596 (GRCm39)	R286H	possibly damaging	Het
Arhgap29	T	A	3: 121,808,351 (GRCm39)	N1176K	probably benign	Het
Cacfd1	T	G	2: 26,908,951 (GRCm39)	D97E	probably benign	Het
Ccnj	C	A	19: 40,820,529 (GRCm39)		probably null	Het
Chad	A	G	11: 94,456,450 (GRCm39)	Y176C	probably damaging	Het
Chd5	T	C	4: 152,441,133 (GRCm39)	L191P	probably damaging	Het
Cmtm1	T	C	8: 105,035,927 (GRCm39)	D190G	possibly damaging	Het
Cyp3a16	C	T	5: 145,377,241 (GRCm39)	A449T	probably damaging	Het
Eml5	T	C	12: 98,790,896 (GRCm39)	E1334G	probably benign	Het
Endou	C	T	15: 97,617,510 (GRCm39)	E147K	probably damaging	Het
Fbxo21	C	A	5: 118,138,421 (GRCm39)	H449N	probably benign	Het
Fkbp15	A	G	4: 62,250,507 (GRCm39)	I363T	probably damaging	Het
Gm12887	C	A	4: 121,472,834 (GRCm39)	G103C	probably damaging	Het
Gm14410	T	A	2: 176,885,301 (GRCm39)	H321L	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Irgm2	C	T	11: 58,110,878 (GRCm39)	P202S	probably benign	Het
Khsrp	G	A	17: 57,330,543 (GRCm39)	T551I	probably damaging	Het
Lpin2	T	A	17: 71,551,000 (GRCm39)	I720N	probably damaging	Het
Lypd8	G	A	11: 58,275,439 (GRCm39)	G58E	probably damaging	Het
Mdn1	G	T	4: 32,713,780 (GRCm39)	L1952F	probably damaging	Het
Med13	G	A	11: 86,189,780 (GRCm39)	P1043L	probably damaging	Het
Mycbp2	T	C	14: 103,380,317 (GRCm39)	T3832A	probably damaging	Het
Nrxn3	C	T	12: 89,479,819 (GRCm39)	R654C	probably damaging	Het
Or10a3m	T	C	7: 108,312,638 (GRCm39)	L14P	probably damaging	Het
Or12j3	G	T	7: 139,953,354 (GRCm39)	H56Q	possibly damaging	Het
Or8k35	T	C	2: 86,424,809 (GRCm39)	D121G	probably damaging	Het
Pcdhb6	A	G	18: 37,467,556 (GRCm39)	D159G	probably damaging	Het
Plec	T	C	15: 76,058,630 (GRCm39)	E3759G	probably damaging	Het
Plekho1	C	T	3: 95,896,633 (GRCm39)	D236N	probably damaging	Het
Pnma1	T	A	12: 84,194,197 (GRCm39)	I169F	probably benign	Het
Ppl	T	A	16: 4,905,480 (GRCm39)	H1605L	probably benign	Het
Ppp2r2b	T	A	18: 42,821,403 (GRCm39)	M252L	probably benign	Het
Pramel29	A	G	4: 143,935,381 (GRCm39)	V120A	probably damaging	Het
Prickle4	T	A	17: 48,000,258 (GRCm39)	R246*	probably null	Het
Rad50	G	A	11: 53,543,109 (GRCm39)	T1235I	probably damaging	Het
Ranbp10	T	C	8: 106,506,588 (GRCm39)	N244S	probably damaging	Het
Robo4	T	C	9: 37,315,664 (GRCm39)	S306P	possibly damaging	Het
Shox2	C	A	3: 66,888,618 (GRCm39)	R91L	probably benign	Het
Tbx5	A	G	5: 120,021,176 (GRCm39)	E394G	probably damaging	Het
Tcl1b5	A	G	12: 105,145,258 (GRCm39)	N74S	probably benign	Het
Tgif1	G	A	17: 71,153,555 (GRCm39)		probably benign	Het
Tmem128	T	A	5: 38,423,843 (GRCm39)		probably null	Het
Trio	A	G	15: 27,805,956 (GRCm39)	S511P	probably damaging	Het
Trps1	A	G	15: 50,685,823 (GRCm39)	I114T	probably benign	Het
Ttll8	G	T	15: 88,798,441 (GRCm39)	Q765K	probably benign	Het
Usp17ld	A	T	7: 102,899,962 (GRCm39)	D323E	probably damaging	Het
Vmn1r232	G	A	17: 21,134,309 (GRCm39)	T97I	probably benign	Het
Vmn2r28	T	A	7: 5,493,684 (GRCm39)	R87S	probably benign	Het
Vps26b	C	G	9: 26,921,762 (GRCm39)	E254D	probably benign	Het
Vps8	C	A	16: 21,372,875 (GRCm39)	Y113*	probably null	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Xcr1	A	T	9: 123,685,048 (GRCm39)	I238N	probably damaging	Het
Zar1l	T	A	5: 150,430,595 (GRCm39)	E272V	probably damaging	Het
Zfp451	A	G	1: 33,816,862 (GRCm39)	Y146H	probably damaging	Het
Zfp54	G	T	17: 21,653,736 (GRCm39)	E77*	probably null	Het

Other mutations in Or13a22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Or13a22	APN	7	140,072,614 (GRCm39)	missense	probably benign	0.00
IGL01537:Or13a22	APN	7	140,072,751 (GRCm39)	missense	probably damaging	1.00
IGL01639:Or13a22	APN	7	140,073,099 (GRCm39)	missense	probably benign	0.09
IGL02157:Or13a22	APN	7	140,072,847 (GRCm39)	missense	probably damaging	1.00
IGL02593:Or13a22	APN	7	140,073,244 (GRCm39)	missense	probably benign	0.04
IGL03108:Or13a22	APN	7	140,073,034 (GRCm39)	missense	possibly damaging	0.50
R1835:Or13a22	UTSW	7	140,072,622 (GRCm39)	missense	probably benign
R2040:Or13a22	UTSW	7	140,073,295 (GRCm39)	missense	probably benign	0.10
R3125:Or13a22	UTSW	7	140,072,764 (GRCm39)	missense	probably benign	0.01
R4795:Or13a22	UTSW	7	140,072,920 (GRCm39)	missense	probably damaging	1.00
R6187:Or13a22	UTSW	7	140,072,529 (GRCm39)	start gained	probably benign
R6285:Or13a22	UTSW	7	140,072,626 (GRCm39)	missense	possibly damaging	0.71
R7016:Or13a22	UTSW	7	140,073,153 (GRCm39)	missense	probably benign	0.01
R7573:Or13a22	UTSW	7	140,072,912 (GRCm39)	missense	probably damaging	1.00
R7867:Or13a22	UTSW	7	140,073,049 (GRCm39)	missense	probably benign	0.00
R8506:Or13a22	UTSW	7	140,073,336 (GRCm39)	missense	probably benign
R8822:Or13a22	UTSW	7	140,072,926 (GRCm39)	missense	possibly damaging	0.93
R9315:Or13a22	UTSW	7	140,072,935 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTCTGATTGGCCTAGTG -3'
(R):5'- TCAGCATGAAGTTGATGCCTCC -3'

Sequencing Primer
(F):5'- TGGCCTAGTGTTTGAGGAAAATACC -3'
(R):5'- CATGAAGTTGATGCCTCCATAAAAGG -3'

Posted On

2018-06-06