Mutagenetix > Incidental Mutation

Incidental Mutation 'R0358:Or13a21'

29941

Institutional Source

Beutler Lab

Gene Symbol

Or13a21

Ensembl Gene

ENSMUSG00000063823

Gene Name

olfactory receptor family 13 subfamily A member 21

Synonyms

Olfr532, GA_x6K02T2PBJ9-42570051-42569122, MOR251-1

MMRRC Submission

038564-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R0358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139998755-139999684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 139998856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 277 (L277M)

Ref Sequence

ENSEMBL: ENSMUSP00000150798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073226] [ENSMUST00000213801]

AlphaFold

Q8VGT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000073226
AA Change: L277M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072959
Gene: ENSMUSG00000063823
AA Change: L277M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	4.7e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	305	2.5e-6	PFAM
Pfam:7tm_1	41	290	1.7e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213172

Predicted Effect

probably damaging
Transcript: ENSMUST00000213801
AA Change: L277M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.2886

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.5%

Validation Efficiency

100% (64/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	A	17: 79,935,585 (GRCm39)		probably benign	Het
Abca16	A	T	7: 120,143,939 (GRCm39)	K1651N	probably benign	Het
Abcb1b	T	C	5: 8,871,423 (GRCm39)	S326P	probably benign	Het
Ache	A	G	5: 137,288,635 (GRCm39)	T114A	probably benign	Het
Akap3	T	A	6: 126,843,775 (GRCm39)	V798D	probably damaging	Het
Ankle1	A	G	8: 71,860,189 (GRCm39)	T256A	probably damaging	Het
Aqp4	T	C	18: 15,531,302 (GRCm39)	N153S	probably benign	Het
Arhgap23	G	A	11: 97,354,414 (GRCm39)	V265M	probably damaging	Het
Arhgef25	A	T	10: 127,020,322 (GRCm39)	M326K	probably damaging	Het
Atp6v1c2	T	C	12: 17,334,961 (GRCm39)		probably benign	Het
Cars1	A	T	7: 143,142,219 (GRCm39)		probably benign	Het
Cep83	A	T	10: 94,555,593 (GRCm39)	M96L	probably benign	Het
Cfap46	A	G	7: 139,231,449 (GRCm39)		probably benign	Het
Cnnm3	T	A	1: 36,560,303 (GRCm39)	S608T	probably damaging	Het
Cul7	G	A	17: 46,974,670 (GRCm39)		probably null	Het
Dhrs2	G	A	14: 55,473,574 (GRCm39)	V78M	probably damaging	Het
Dhx38	A	T	8: 110,279,094 (GRCm39)	D1051E	probably benign	Het
Eftud2	A	G	11: 102,755,627 (GRCm39)		probably benign	Het
Egln3	T	C	12: 54,250,082 (GRCm39)	E89G	possibly damaging	Het
Eif2ak4	A	G	2: 118,294,410 (GRCm39)		probably null	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Fsip2	A	T	2: 82,813,677 (GRCm39)	N3332I	possibly damaging	Het
Gbp2b	A	T	3: 142,312,550 (GRCm39)	E311V	probably damaging	Het
Gcnt2	G	T	13: 41,014,329 (GRCm39)	A167S	probably damaging	Het
Gm9797	A	T	10: 11,485,088 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,215 (GRCm39)		probably null	Het
Gpr22	T	C	12: 31,759,981 (GRCm39)	N47S	probably benign	Het
Il18rap	A	T	1: 40,588,202 (GRCm39)	H600L	possibly damaging	Het
Larp7	A	G	3: 127,340,737 (GRCm39)		probably null	Het
Mep1a	A	G	17: 43,789,841 (GRCm39)	Y490H	possibly damaging	Het
Mrgprh	T	A	17: 13,096,237 (GRCm39)	V159D	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nrbp1	T	A	5: 31,402,231 (GRCm39)	I64N	probably damaging	Het
Nup214	G	A	2: 31,894,312 (GRCm39)		probably null	Het
Or10d1b	A	G	9: 39,613,297 (GRCm39)	I256T	possibly damaging	Het
Or2o1	T	A	11: 49,051,071 (GRCm39)	C77S	probably benign	Het
Or4k15b	A	T	14: 50,272,743 (GRCm39)	L39Q	probably damaging	Het
Pef1	A	G	4: 130,021,180 (GRCm39)	T245A	probably damaging	Het
Phrf1	A	G	7: 140,838,217 (GRCm39)		probably benign	Het
Ppig	A	G	2: 69,573,942 (GRCm39)		probably benign	Het
Ppp1r8	G	T	4: 132,562,039 (GRCm39)	F60L	probably damaging	Het
Psmd11	G	A	11: 80,353,510 (GRCm39)		probably benign	Het
Ptk6	G	T	2: 180,840,315 (GRCm39)	H230Q	probably benign	Het
Ptprd	T	C	4: 75,863,226 (GRCm39)	Y1496C	probably damaging	Het
Rhbdl3	G	T	11: 80,244,457 (GRCm39)	W388L	probably damaging	Het
Rnf130	T	A	11: 49,962,109 (GRCm39)	M185K	probably benign	Het
S100a13	A	T	3: 90,423,299 (GRCm39)	I97F	probably damaging	Het
Slc22a16	T	G	10: 40,463,488 (GRCm39)		probably null	Het
Tcte1	A	T	17: 45,846,211 (GRCm39)	T272S	probably benign	Het
Terf1	T	C	1: 15,876,062 (GRCm39)	V54A	possibly damaging	Het
Tmem63a	T	A	1: 180,783,988 (GRCm39)	N189K	probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trim66	G	A	7: 109,059,383 (GRCm39)	Q954*	probably null	Het
Trpv4	A	G	5: 114,768,493 (GRCm39)	F525S	probably damaging	Het
Ttll7	A	G	3: 146,649,871 (GRCm39)	T634A	probably benign	Het
Tut7	T	C	13: 59,929,918 (GRCm39)	D47G	probably damaging	Het
Ush2a	T	G	1: 188,269,977 (GRCm39)	N1741K	possibly damaging	Het
Wdr87-ps	A	T	7: 29,231,636 (GRCm39)		noncoding transcript	Het
Zfp451	T	A	1: 33,816,810 (GRCm39)	H163L	probably damaging	Het

Other mutations in Or13a21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01684:Or13a21	APN	7	139,998,828 (GRCm39)	missense	probably damaging	1.00
IGL01743:Or13a21	APN	7	139,999,581 (GRCm39)	missense	probably damaging	1.00
IGL01797:Or13a21	APN	7	139,998,931 (GRCm39)	missense	probably damaging	1.00
IGL02291:Or13a21	APN	7	139,999,200 (GRCm39)	missense	probably damaging	1.00
IGL02382:Or13a21	APN	7	139,999,516 (GRCm39)	missense	possibly damaging	0.72
IGL02514:Or13a21	APN	7	139,999,507 (GRCm39)	missense	probably damaging	1.00
IGL02600:Or13a21	APN	7	139,998,862 (GRCm39)	missense	probably benign
IGL02613:Or13a21	APN	7	139,999,383 (GRCm39)	missense	probably benign	0.04
R0827:Or13a21	UTSW	7	139,999,380 (GRCm39)	missense	probably damaging	0.99
R1464:Or13a21	UTSW	7	139,999,286 (GRCm39)	missense	probably benign	0.01
R1464:Or13a21	UTSW	7	139,999,286 (GRCm39)	missense	probably benign	0.01
R1539:Or13a21	UTSW	7	139,999,326 (GRCm39)	missense	probably benign	0.26
R1691:Or13a21	UTSW	7	139,998,855 (GRCm39)	missense	probably damaging	1.00
R2012:Or13a21	UTSW	7	139,999,024 (GRCm39)	missense	probably damaging	1.00
R2195:Or13a21	UTSW	7	139,999,138 (GRCm39)	missense	possibly damaging	0.49
R4519:Or13a21	UTSW	7	139,999,123 (GRCm39)	missense	probably damaging	1.00
R6368:Or13a21	UTSW	7	139,999,580 (GRCm39)	nonsense	probably null
R6656:Or13a21	UTSW	7	139,999,517 (GRCm39)	missense	probably damaging	0.99
R7467:Or13a21	UTSW	7	139,999,287 (GRCm39)	missense	probably benign
R7610:Or13a21	UTSW	7	139,999,466 (GRCm39)	nonsense	probably null
R7795:Or13a21	UTSW	7	139,999,027 (GRCm39)	missense	possibly damaging	0.49
R7837:Or13a21	UTSW	7	139,999,234 (GRCm39)	missense	probably benign	0.01
R8755:Or13a21	UTSW	7	139,999,417 (GRCm39)	missense	probably benign	0.00
R9706:Or13a21	UTSW	7	139,999,266 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GTGCCACCAGACACAGTTCTCAAG -3'
(R):5'- TGTGAAGTCCCAACACTGCTGC -3'

Sequencing Primer
(F):5'- ACTATCTGTACTCTGACAGGACATC -3'
(R):5'- CAACATTATGCTTGTCATCGCAG -3'

Posted On

2013-04-24