Mutagenetix > Incidental Mutation

Incidental Mutation 'R5516:Or51a24'

431288

Institutional Source

Beutler Lab

Gene Symbol

Or51a24

Ensembl Gene

ENSMUSG00000051340

Gene Name

olfactory receptor family 51 subfamily A member 24

Synonyms

GA_x6K02T2PBJ9-6819097-6818150, MOR13-5, Olfr645

MMRRC Submission

043075-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103733338-103734285 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103733444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 281 (I281T)

Ref Sequence

ENSEMBL: ENSMUSP00000062821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057104] [ENSMUST00000138055]

AlphaFold

Q7TRQ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057104
AA Change: I281T

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000062821
Gene: ENSMUSG00000051340
AA Change: I281T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	5.4e-113	PFAM
Pfam:7TM_GPCR_Srsx	37	256	8e-8	PFAM
Pfam:7tm_1	43	295	5.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.4%

Validation Efficiency

97% (58/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,306,901 (GRCm39)	K334R	probably damaging	Het
Aldh1l1	A	T	6: 90,573,927 (GRCm39)	I809F	possibly damaging	Het
Bmp2k	T	A	5: 97,235,312 (GRCm39)		probably benign	Het
C1qtnf9	T	A	14: 61,017,198 (GRCm39)	C243S	probably damaging	Het
Cacna1c	G	A	6: 119,034,179 (GRCm39)	A146V	probably damaging	Het
Ccdc85c	A	G	12: 108,174,109 (GRCm39)	V353A	probably damaging	Het
Cd300ld2	G	T	11: 114,903,270 (GRCm39)		probably benign	Het
Cd320	A	G	17: 34,067,021 (GRCm39)	Q170R	possibly damaging	Het
Cfap43	C	T	19: 47,726,648 (GRCm39)		probably null	Het
Chid1	A	G	7: 141,076,059 (GRCm39)	S365P	probably damaging	Het
Chrna7	T	G	7: 62,749,046 (GRCm39)	T479P	probably damaging	Het
Clasp1	G	T	1: 118,425,451 (GRCm39)	R35L	probably damaging	Het
Cluh	G	A	11: 74,551,270 (GRCm39)	R373H	probably damaging	Het
Cyp2b23	G	A	7: 26,372,482 (GRCm39)	R378*	probably null	Het
Cyp2d9	T	G	15: 82,338,528 (GRCm39)	N136K	probably null	Het
Efcab5	A	T	11: 77,079,615 (GRCm39)	S44T	possibly damaging	Het
Esrrg	A	T	1: 187,930,927 (GRCm39)	L316F	possibly damaging	Het
Fam222a	T	C	5: 114,749,889 (GRCm39)	Y362H	probably damaging	Het
Fat3	A	G	9: 15,910,005 (GRCm39)	V1999A	probably damaging	Het
Fes	A	T	7: 80,036,931 (GRCm39)	M51K	probably damaging	Het
Fmo3	T	A	1: 162,781,995 (GRCm39)	K453*	probably null	Het
Galnt1	A	G	18: 24,413,074 (GRCm39)	N458S	probably benign	Het
Gm8888	T	A	15: 96,664,855 (GRCm39)		noncoding transcript	Het
Gpn2	G	A	4: 133,312,190 (GRCm39)		probably null	Het
Grm4	G	A	17: 27,657,385 (GRCm39)	T464I	probably benign	Het
Insr	T	A	8: 3,205,764 (GRCm39)	K1342*	probably null	Het
Krt87	T	A	15: 101,385,002 (GRCm39)	K365*	probably null	Het
Lfng	T	C	5: 140,599,018 (GRCm39)	L309P	probably damaging	Het
Lnpk	T	C	2: 74,378,132 (GRCm39)		probably benign	Het
Lrrc8e	A	C	8: 4,285,818 (GRCm39)	D681A	probably damaging	Het
Lyst	G	A	13: 13,818,707 (GRCm39)	D1326N	probably benign	Het
Mmp27	A	G	9: 7,579,063 (GRCm39)	R413G	probably null	Het
Nags	C	T	11: 102,036,773 (GRCm39)	Q121*	probably null	Het
Nectin1	A	G	9: 43,715,090 (GRCm39)	E442G	probably benign	Het
Nek1	G	C	8: 61,542,523 (GRCm39)	A729P	probably benign	Het
Pnp2	C	T	14: 51,201,195 (GRCm39)	A189V	probably benign	Het
Ppm1m	T	A	9: 106,075,138 (GRCm39)	I136F	probably damaging	Het
Pramel21	A	G	4: 143,342,253 (GRCm39)	Q120R	possibly damaging	Het
Psg17	G	T	7: 18,548,458 (GRCm39)	Q438K	probably benign	Het
Ptprk	C	T	10: 28,372,926 (GRCm39)	R726*	probably null	Het
Rab3gap2	A	T	1: 184,967,684 (GRCm39)	Y163F	probably benign	Het
Scrib	A	T	15: 75,934,712 (GRCm39)	L627Q	possibly damaging	Het
Tcp1	A	G	17: 13,143,221 (GRCm39)	K510R	probably damaging	Het
Tle4	A	T	19: 14,432,253 (GRCm39)	I481N	probably damaging	Het
Tmem43	G	T	6: 91,455,192 (GRCm39)	R56L	possibly damaging	Het
Trmt10a	T	C	3: 137,857,957 (GRCm39)	I168T	possibly damaging	Het
Trpv1	A	T	11: 73,136,809 (GRCm39)	Y96F	probably benign	Het
Tshz3	C	T	7: 36,469,775 (GRCm39)	T588I	probably benign	Het
Ugt2b38	A	G	5: 87,559,702 (GRCm39)	F397L	probably damaging	Het
Vmn2r11	A	G	5: 109,195,032 (GRCm39)	S765P	probably damaging	Het
Zfp668	A	G	7: 127,466,318 (GRCm39)	F289L	probably damaging	Het
Zfp735	A	G	11: 73,601,640 (GRCm39)	T195A	probably benign	Het
Zscan10	A	G	17: 23,828,333 (GRCm39)	T182A	possibly damaging	Het

Other mutations in Or51a24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1303:Or51a24	UTSW	7	103,733,948 (GRCm39)	missense	probably damaging	1.00
R1488:Or51a24	UTSW	7	103,733,859 (GRCm39)	missense	probably benign
R1556:Or51a24	UTSW	7	103,733,468 (GRCm39)	missense	probably benign
R2158:Or51a24	UTSW	7	103,734,033 (GRCm39)	missense	probably benign
R2987:Or51a24	UTSW	7	103,734,077 (GRCm39)	missense	probably benign	0.01
R4437:Or51a24	UTSW	7	103,734,128 (GRCm39)	missense	possibly damaging	0.88
R4773:Or51a24	UTSW	7	103,733,502 (GRCm39)	missense	probably damaging	1.00
R5285:Or51a24	UTSW	7	103,733,340 (GRCm39)	makesense	probably null
R5396:Or51a24	UTSW	7	103,734,098 (GRCm39)	missense	probably benign	0.08
R5761:Or51a24	UTSW	7	103,733,376 (GRCm39)	missense	probably benign	0.01
R5793:Or51a24	UTSW	7	103,734,237 (GRCm39)	missense	probably benign	0.10
R5960:Or51a24	UTSW	7	103,733,560 (GRCm39)	missense	probably damaging	1.00
R6242:Or51a24	UTSW	7	103,733,771 (GRCm39)	missense	possibly damaging	0.82
R6676:Or51a24	UTSW	7	103,733,661 (GRCm39)	missense	probably benign	0.02
R6975:Or51a24	UTSW	7	103,734,002 (GRCm39)	missense	probably benign
R8202:Or51a24	UTSW	7	103,734,198 (GRCm39)	missense	probably benign	0.20
R9402:Or51a24	UTSW	7	103,733,610 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATAGACCTCATACCCCTTAG -3'
(R):5'- TGTGCTTATCCTGCGATCTG -3'

Sequencing Primer
(F):5'- ATAGACCTCATACCCCTTAGTTAATC -3'
(R):5'- CGATCTGTGCTGGCCATTGC -3'

Posted On

2016-10-05