Mutagenetix > Incidental Mutation

Incidental Mutation 'R7795:Or13a21'

600174

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

045851-MU

Accession Numbers

Essential gene?

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

Stock #

R7795 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139998755-139999684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139999027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 220 (F220L)

Ref Sequence

ENSEMBL: ENSMUSP00000150798 (fasta)

Gene Model

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

AlphaFold

Q8VGT4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073226
AA Change: F220L

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072959
Gene: ENSMUSG00000063823
AA Change: F220L

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

possibly damaging
Transcript: ENSMUST00000213801
AA Change: F220L

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankle1	T	C	8: 71,861,337 (GRCm39)	S391P	probably damaging	Het
Ankmy1	T	C	1: 92,811,570 (GRCm39)	Q606R	probably benign	Het
Bmf	A	G	2: 118,377,358 (GRCm39)	L130P	probably damaging	Het
Ccdc88c	G	A	12: 100,889,570 (GRCm39)	T1491I	probably benign	Het
Cyp2c69	G	A	19: 39,864,663 (GRCm39)	R272C	probably benign	Het
Defa27	A	G	8: 21,806,354 (GRCm39)	N78S	probably benign	Het
Depdc5	T	A	5: 33,101,447 (GRCm39)	D912E	probably damaging	Het
Dsc3	C	T	18: 20,099,288 (GRCm39)	D743N	probably damaging	Het
Epcam	T	C	17: 87,950,983 (GRCm39)	V190A	probably benign	Het
Exoc2	G	A	13: 31,060,756 (GRCm39)	R583*	probably null	Het
Extl1	T	A	4: 134,091,990 (GRCm39)	I288F	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fcer2a	T	A	8: 3,732,910 (GRCm39)	Y299F	probably benign	Het
Frmd4a	G	A	2: 4,595,506 (GRCm39)	G439R	probably damaging	Het
Gal3st4	T	C	5: 138,269,100 (GRCm39)	H120R	probably benign	Het
Grid1	C	A	14: 35,043,642 (GRCm39)	N332K	probably damaging	Het
Igkv4-68	A	G	6: 69,281,896 (GRCm39)	Y92H	probably damaging	Het
Itga1	T	C	13: 115,148,772 (GRCm39)	E283G	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lrrc24	A	G	15: 76,602,248 (GRCm39)	L169P	probably benign	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Mettl8	T	C	2: 70,812,243 (GRCm39)	T131A	probably benign	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Nbr1	T	A	11: 101,460,154 (GRCm39)	D383E	probably damaging	Het
Neto1	A	T	18: 86,479,198 (GRCm39)	K167N	probably benign	Het
Nkx6-1	A	T	5: 101,811,628 (GRCm39)	L158Q	unknown	Het
Nlrp5	G	A	7: 23,118,219 (GRCm39)	V648M	possibly damaging	Het
Nvl	G	T	1: 180,924,722 (GRCm39)	Q811K	probably benign	Het
Or13p3	C	A	4: 118,566,855 (GRCm39)	H84N	possibly damaging	Het
Or1j10	A	G	2: 36,267,453 (GRCm39)	T222A	probably benign	Het
Or3a1c	T	A	11: 74,046,844 (GRCm39)	L288Q	probably damaging	Het
Pccb	T	C	9: 100,881,316 (GRCm39)	Y224C	probably damaging	Het
Pcdh10	T	C	3: 45,334,657 (GRCm39)	Y324H	probably benign	Het
Pecam1	C	A	11: 106,586,658 (GRCm39)	E286*	probably null	Het
Prl7d1	A	T	13: 27,893,263 (GRCm39)	L215Q	probably damaging	Het
Ranbp2	T	A	10: 58,319,729 (GRCm39)	Y2514*	probably null	Het
Rgs11	A	G	17: 26,426,552 (GRCm39)	H261R	possibly damaging	Het
Samd15	A	G	12: 87,247,506 (GRCm39)	T64A	probably benign	Het
Shc4	T	A	2: 125,565,285 (GRCm39)	S5C	probably damaging	Het
Shroom3	G	A	5: 93,067,508 (GRCm39)	V109M	probably damaging	Het
Spata13	T	C	14: 60,929,291 (GRCm39)	I283T	possibly damaging	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Synj2bp	G	A	12: 81,548,922 (GRCm39)	P106S	probably benign	Het
Tasor	T	C	14: 27,203,340 (GRCm39)	S289P		Het
Thoc1	T	C	18: 9,986,300 (GRCm39)	V344A	probably damaging	Het
Vmn1r71	A	G	7: 10,482,136 (GRCm39)	L184S	probably damaging	Het
Vps45	A	G	3: 95,926,936 (GRCm39)	I537T	probably benign	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
R0358:Or13a21	UTSW	7	139,998,856 (GRCm39)	missense	probably damaging	0.98
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
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'- GGGCTACCTTCACATCCTTG -3'
(R):5'- GTGCGACTCAATTTCTGTGGC -3'

Sequencing Primer
(F):5'- CTGACTGCTGTGTACAGTAAGGTAAC -3'
(R):5'- TGTGGCTCCAACCAAATTCG -3'

Posted On

2019-11-26