Mutagenetix > Incidental Mutation

Incidental Mutation 'R4773:Or51a24'

367679

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

042411-MU

Accession Numbers

Essential gene?

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

Stock #

R4773 (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 103733502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 262 (S262P)

Ref Sequence

ENSEMBL: ENSMUSP00000062821 (fasta)

Gene Model

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

AlphaFold

Q7TRQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000057104
AA Change: S262P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062821
Gene: ENSMUSG00000051340
AA Change: S262P

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

0.3278

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (89/89)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	A	G	11: 50,982,089 (GRCm39)		noncoding transcript	Het
Actl7b	T	C	4: 56,740,972 (GRCm39)	I129V	probably benign	Het
Adipor2	A	G	6: 119,336,047 (GRCm39)	L225P	probably benign	Het
Arhgap25	A	G	6: 87,473,053 (GRCm39)	F35L	probably benign	Het
Asah2	A	T	19: 32,030,258 (GRCm39)	M138K	probably damaging	Het
Asxl1	T	A	2: 153,243,905 (GRCm39)	M1486K	probably damaging	Het
B4galt4	T	A	16: 38,572,658 (GRCm39)	S114R	probably benign	Het
Brpf3	T	G	17: 29,040,233 (GRCm39)	S885A	probably benign	Het
Cacna1g	G	T	11: 94,302,298 (GRCm39)	H1944N	possibly damaging	Het
Cby2	T	A	14: 75,820,546 (GRCm39)	Y393F	probably damaging	Het
Ccdc110	G	A	8: 46,396,245 (GRCm39)	C712Y	probably damaging	Het
Ccdc175	A	T	12: 72,182,822 (GRCm39)	I399N	probably damaging	Het
Cct8l1	A	T	5: 25,722,754 (GRCm39)	T490S	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Copa	A	G	1: 171,932,787 (GRCm39)	N371D	probably damaging	Het
Cpeb1	A	T	7: 81,005,695 (GRCm39)	H381Q	probably benign	Het
Cyp2d40	T	A	15: 82,645,763 (GRCm39)	I81F	possibly damaging	Het
Dscc1	A	T	15: 54,943,654 (GRCm39)	D405E	probably benign	Het
Ece1	A	G	4: 137,672,464 (GRCm39)	D369G	probably benign	Het
Exd2	T	C	12: 80,522,592 (GRCm39)	V17A	possibly damaging	Het
Fam111a	A	T	19: 12,565,772 (GRCm39)	N507I	possibly damaging	Het
Flnc	T	C	6: 29,445,038 (GRCm39)	V719A	possibly damaging	Het
Fscb	C	T	12: 64,520,464 (GRCm39)	G334D	probably damaging	Het
Glud1	T	C	14: 34,043,782 (GRCm39)		probably null	Het
Gm8126	T	A	14: 43,119,072 (GRCm39)	Y180*	probably null	Het
Grip2	G	A	6: 91,759,413 (GRCm39)	P347L	possibly damaging	Het
H1f3	T	C	13: 23,739,576 (GRCm39)	S105P	probably damaging	Het
H60b	C	T	10: 22,164,644 (GRCm39)		probably benign	Het
Iqca1l	A	G	5: 24,755,596 (GRCm39)		probably null	Het
Itga6	T	C	2: 71,652,788 (GRCm39)	V217A	probably benign	Het
Kndc1	G	A	7: 139,503,946 (GRCm39)	W1083*	probably null	Het
Limch1	A	T	5: 67,184,850 (GRCm39)	D613V	probably damaging	Het
Lpl	T	A	8: 69,349,403 (GRCm39)	C310S	probably damaging	Het
Marchf1	T	A	8: 66,839,876 (GRCm39)	C220S	probably benign	Het
Mbd5	A	C	2: 49,164,623 (GRCm39)	H308P	probably damaging	Het
Med13	T	C	11: 86,167,746 (GRCm39)	D2003G	probably damaging	Het
Mettl16	T	A	11: 74,708,127 (GRCm39)	V442D	possibly damaging	Het
Mstn	A	T	1: 53,101,267 (GRCm39)	T115S	probably benign	Het
Mtcl2	G	T	2: 156,872,489 (GRCm39)	Q953K	probably benign	Het
Nfil3	A	G	13: 53,122,050 (GRCm39)	S285P	probably damaging	Het
Odad4	C	A	11: 100,440,742 (GRCm39)	N74K	probably benign	Het
Or10j3	A	C	1: 173,031,796 (GRCm39)	Y291S	probably damaging	Het
Otof	A	G	5: 30,552,026 (GRCm39)	V321A	probably benign	Het
Pcdha8	G	T	18: 37,127,626 (GRCm39)	A703S	probably damaging	Het
Pcdhb18	A	G	18: 37,623,507 (GRCm39)	Y279C	probably damaging	Het
Pdgfa	T	C	5: 138,979,051 (GRCm39)	D51G	probably benign	Het
Pdzd8	A	G	19: 59,289,292 (GRCm39)	Y703H	probably damaging	Het
Pecr	G	T	1: 72,306,594 (GRCm39)	P229Q	probably damaging	Het
Phkg1	G	T	5: 129,902,114 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,051,150 (GRCm39)	H356Q	probably benign	Het
Polr1b	T	C	2: 128,947,248 (GRCm39)	I191T	probably benign	Het
Ppp4r3a	A	G	12: 101,049,026 (GRCm39)	L35P	possibly damaging	Het
Rasa2	C	T	9: 96,426,470 (GRCm39)	G792D	probably benign	Het
Rps11-ps4	T	C	12: 51,344,406 (GRCm39)		noncoding transcript	Het
Sema3g	A	G	14: 30,942,666 (GRCm39)	D89G	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slfn8	A	G	11: 82,908,219 (GRCm39)	V108A	probably damaging	Het
Smg9	T	A	7: 24,107,019 (GRCm39)	M221K	possibly damaging	Het
Sos1	A	G	17: 80,705,660 (GRCm39)	S1304P	probably damaging	Het
Sqle	C	A	15: 59,189,688 (GRCm39)	A110E	possibly damaging	Het
Stab2	G	A	10: 86,743,235 (GRCm39)	Q1154*	probably null	Het
Taf4b	A	G	18: 14,937,577 (GRCm39)	T217A	probably benign	Het
Tex15	T	C	8: 34,072,760 (GRCm39)	V2769A	probably benign	Het
Tmem156	A	T	5: 65,237,502 (GRCm39)	C53S	probably damaging	Het
Tmtc3	T	A	10: 100,293,001 (GRCm39)	K452N	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tph1	T	C	7: 46,306,376 (GRCm39)	E195G	probably damaging	Het
Trpc6	T	A	9: 8,609,852 (GRCm39)	Y107N	possibly damaging	Het
Tsga10	G	A	1: 37,874,606 (GRCm39)	T93I	probably damaging	Het
Ttn	T	A	2: 76,571,778 (GRCm39)	N26372Y	probably damaging	Het
Tubd1	T	C	11: 86,446,128 (GRCm39)	L256P	possibly damaging	Het
Txnrd2	C	G	16: 18,259,569 (GRCm39)	A126G	probably benign	Het
Vmn1r210	T	G	13: 23,011,374 (GRCm39)	K304T	probably benign	Het
Vps25	T	C	11: 101,149,655 (GRCm39)	S160P	probably benign	Het
Vrk3	T	A	7: 44,424,900 (GRCm39)	D438E	probably benign	Het
Vwa5b1	A	G	4: 138,309,066 (GRCm39)	L708P	probably benign	Het
Washc3	C	T	10: 88,055,124 (GRCm39)	Q105*	probably null	Het
Wdr83os	T	A	8: 85,807,410 (GRCm39)		probably benign	Het
Wwc1	T	C	11: 35,758,123 (GRCm39)	H741R	probably benign	Het
Zan	T	C	5: 137,434,575 (GRCm39)		probably benign	Het
Zdhhc4	A	T	5: 143,311,931 (GRCm39)	L14I	possibly damaging	Het
Zfp568	T	A	7: 29,697,195 (GRCm39)	D38E	probably 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
R5285:Or51a24	UTSW	7	103,733,340 (GRCm39)	makesense	probably null
R5396:Or51a24	UTSW	7	103,734,098 (GRCm39)	missense	probably benign	0.08
R5516:Or51a24	UTSW	7	103,733,444 (GRCm39)	missense	possibly damaging	0.53
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'- GGCTGTTCATATCCACACAAC -3'
(R):5'- CCCTCAATAGCCACTATGGG -3'

Sequencing Primer
(F):5'- GGCTGTTCATATCCACACAACACTAG -3'
(R):5'- GGTTGTCCATCGTGTTGCTCAC -3'

Posted On

2015-12-29