Mutagenetix > Incidental Mutation

Incidental Mutation 'R5960:Or51a24'

471403

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

044147-MU

Accession Numbers

Essential gene?

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

Stock #

R5960 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

103733338-103734285 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103733560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 242 (N242K)

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: N242K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062821
Gene: ENSMUSG00000051340
AA Change: N242K

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

0.2553

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 92.9%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,528 (GRCm39)	T30A	possibly damaging	Het
Adat1	T	C	8: 112,709,233 (GRCm39)	M197V	probably benign	Het
Alcam	T	C	16: 52,115,489 (GRCm39)	T210A	probably benign	Het
Ankfy1	T	A	11: 72,648,178 (GRCm39)	S886R	possibly damaging	Het
Aopep	G	A	13: 63,388,087 (GRCm39)	R22Q	probably damaging	Het
Atg2a	T	G	19: 6,304,390 (GRCm39)	F1136V	probably damaging	Het
Birc6	A	T	17: 74,835,760 (GRCm39)	T72S	probably damaging	Het
Caskin1	A	G	17: 24,717,869 (GRCm39)	T219A	probably benign	Het
Catsperg1	A	G	7: 28,884,208 (GRCm39)		probably benign	Het
Cdh12	A	G	15: 21,492,562 (GRCm39)		probably null	Het
Cfap126	A	G	1: 170,952,882 (GRCm39)	D45G	probably damaging	Het
Ciz1	C	A	2: 32,261,228 (GRCm39)	Q356K	possibly damaging	Het
Ckmt1	T	A	2: 121,194,058 (GRCm39)	I407N	probably damaging	Het
Csmd1	C	T	8: 16,121,430 (GRCm39)	E1756K	possibly damaging	Het
Cwf19l2	A	G	9: 3,411,404 (GRCm39)	K94E	probably benign	Het
Cyth1	A	G	11: 118,023,193 (GRCm39)		probably benign	Het
Ddx25	A	G	9: 35,465,807 (GRCm39)		probably null	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock3	C	A	9: 106,788,554 (GRCm39)	G138*	probably null	Het
Fam20a	G	A	11: 109,566,795 (GRCm39)		probably benign	Het
Fanci	A	G	7: 79,093,510 (GRCm39)	T1006A	probably damaging	Het
Fat1	T	C	8: 45,486,405 (GRCm39)	Y3320H	probably damaging	Het
Fndc8	A	G	11: 82,788,398 (GRCm39)	D76G	probably benign	Het
Gm19965	T	C	1: 116,749,201 (GRCm39)	I294T	possibly damaging	Het
Gm9755	T	G	8: 67,967,840 (GRCm39)		noncoding transcript	Het
Iars1	T	C	13: 49,878,113 (GRCm39)	V879A	possibly damaging	Het
Ifi209	A	T	1: 173,466,382 (GRCm39)		probably null	Het
Itgb2l	T	C	16: 96,227,459 (GRCm39)	H528R	probably benign	Het
Marf1	T	C	16: 13,970,281 (GRCm39)	Q146R	probably damaging	Het
Megf11	A	G	9: 64,567,731 (GRCm39)	T407A	probably benign	Het
Mtg1	T	C	7: 139,726,906 (GRCm39)		probably benign	Het
Nhsl1	T	G	10: 18,402,724 (GRCm39)	S1317A	probably benign	Het
Nhsl3	A	G	4: 129,115,865 (GRCm39)	V933A	probably damaging	Het
Nudt16	A	T	9: 105,008,698 (GRCm39)	C63S	possibly damaging	Het
Nup107	T	C	10: 117,625,915 (GRCm39)	I49V	probably null	Het
Or5m13	T	A	2: 85,749,069 (GRCm39)	S267T	probably benign	Het
Orc1	T	C	4: 108,463,495 (GRCm39)	S671P	possibly damaging	Het
Paox	A	G	7: 139,712,402 (GRCm39)	D211G	probably benign	Het
Pck2	A	G	14: 55,786,004 (GRCm39)	T571A	possibly damaging	Het
Pigg	A	G	5: 108,484,160 (GRCm39)	E469G	probably benign	Het
Pikfyve	C	A	1: 65,292,597 (GRCm39)	Y1349*	probably null	Het
Prickle2	A	G	6: 92,353,286 (GRCm39)	F783L	probably benign	Het
Prpf40b	G	T	15: 99,212,785 (GRCm39)	R627L	probably damaging	Het
Rasgrf1	A	G	9: 89,903,437 (GRCm39)	I1217V	possibly damaging	Het
Rbm26	A	T	14: 105,387,751 (GRCm39)	V457D	probably damaging	Het
Rex1bd	C	A	8: 70,959,156 (GRCm39)	R49L	probably null	Het
Robo2	A	T	16: 73,730,603 (GRCm39)	L1003Q	probably damaging	Het
Sacs	A	G	14: 61,446,144 (GRCm39)	D2730G	probably benign	Het
Setd6	T	A	8: 96,442,827 (GRCm39)	L88H	probably damaging	Het
Smim35	T	C	9: 45,154,288 (GRCm39)	Y50H	probably damaging	Het
Sncb	A	G	13: 54,910,795 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,225 (GRCm39)	H985L	probably benign	Het
Spmap2	T	G	10: 79,421,765 (GRCm39)	K151T	possibly damaging	Het
Stard9	A	G	2: 120,530,442 (GRCm39)	E2233G	probably benign	Het
Susd2	C	T	10: 75,475,770 (GRCm39)	V410I	probably damaging	Het
Synm	A	G	7: 67,385,494 (GRCm39)	S281P	probably damaging	Het
Syvn1	C	T	19: 6,100,598 (GRCm39)	R330C	probably damaging	Het
Tiam2	A	T	17: 3,488,915 (GRCm39)	D741V	probably benign	Het
Tph1	A	G	7: 46,311,429 (GRCm39)		probably null	Het
Trav7-5	T	A	14: 53,768,706 (GRCm39)	H91Q	probably benign	Het
Tymp	A	T	15: 89,260,778 (GRCm39)		probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	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
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
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
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'- ATCTTGAGTAGTCTCCGGCG -3'
(R):5'- GAACAGTCCTCCGTAGCTTTG -3'

Sequencing Primer
(F):5'- GAGTAGTCTCCGGCGTATCTC -3'
(R):5'- ATGCTTACTGTCTACATGTGGAC -3'

Posted On

2017-03-31