Mutagenetix > Incidental Mutation

Incidental Mutation 'R8966:Or51a43'

682738

Institutional Source

Beutler Lab

Gene Symbol

Or51a43

Ensembl Gene

ENSMUSG00000110012

Gene Name

olfactory receptor family 51 subfamily A member 43

Synonyms

Olfr644, MOR13-1, GA_x6K02T2PBJ9-6803062-6802118

MMRRC Submission

068800-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

R8966 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103717292-103718236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103718139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 33 (L33P)

Ref Sequence

ENSEMBL: ENSMUSP00000149070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077417] [ENSMUST00000138055] [ENSMUST00000213184] [ENSMUST00000213991]

AlphaFold

Q8VH21

Predicted Effect

probably damaging
Transcript: ENSMUST00000077417
AA Change: L33P

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

SMART Domains

Protein: ENSMUSP00000076633
Gene: ENSMUSG00000110012
AA Change: L33P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	2e-122	PFAM
Pfam:7TM_GPCR_Srsx	37	256	5.9e-8	PFAM
Pfam:7tm_1	43	294	1.4e-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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213184
AA Change: L33P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213991
AA Change: L33P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	A	T	1: 16,151,062 (GRCm39)	M40K	possibly damaging	Het
Aak1	A	C	6: 86,964,234 (GRCm39)	N945T	unknown	Het
Abca13	C	G	11: 9,578,588 (GRCm39)	D4863E	probably damaging	Het
Abca8a	C	T	11: 109,962,245 (GRCm39)		probably null	Het
Alppl2	T	A	1: 87,015,210 (GRCm39)	N413I	probably damaging	Het
Asb13	T	A	13: 3,692,093 (GRCm39)	H24Q	probably damaging	Het
Atg9b	A	G	5: 24,596,200 (GRCm39)		probably null	Het
Atp2b4	T	A	1: 133,666,317 (GRCm39)	H245L	probably benign	Het
B3galt2	A	C	1: 143,521,883 (GRCm39)	R6S	probably damaging	Het
B4galnt2	T	C	11: 95,781,811 (GRCm39)	H118R	probably damaging	Het
Ccdc121rt2	T	A	5: 112,598,103 (GRCm39)	W217R	probably damaging	Het
Clca3b	A	G	3: 144,544,872 (GRCm39)	S372P	probably benign	Het
Cnn1	T	C	9: 22,010,716 (GRCm39)		probably null	Het
Cpne6	C	T	14: 55,750,060 (GRCm39)	R64C	probably damaging	Het
Csmd1	T	A	8: 16,250,059 (GRCm39)	H973L	probably damaging	Het
Dennd5b	A	T	6: 148,901,474 (GRCm39)	H1137Q	probably damaging	Het
Dnah3	G	T	7: 119,549,881 (GRCm39)	Y500*	probably null	Het
Dnajc19	A	G	3: 34,132,893 (GRCm39)	V104A	unknown	Het
Eea1	G	A	10: 95,832,901 (GRCm39)	E249K	probably damaging	Het
Eif1ad19	G	T	12: 87,740,273 (GRCm39)	Y95*	probably null	Het
Fancc	T	C	13: 63,495,285 (GRCm39)	Q213R	probably benign	Het
Gabrr1	A	G	4: 33,152,411 (GRCm39)		probably null	Het
Hgd	T	A	16: 37,431,532 (GRCm39)	V113E	probably damaging	Het
Ints7	T	C	1: 191,351,717 (GRCm39)	S809P	probably benign	Het
Lrrcc1	T	C	3: 14,602,359 (GRCm39)	C151R	probably damaging	Het
Marveld3	T	C	8: 110,675,019 (GRCm39)	S266G	possibly damaging	Het
Mdn1	C	T	4: 32,672,837 (GRCm39)	Q486*	probably null	Het
Mstn	G	T	1: 53,105,641 (GRCm39)	V328L	probably benign	Het
Ndc80	C	A	17: 71,815,573 (GRCm39)	G404V	probably benign	Het
Nelfb	T	C	2: 25,090,751 (GRCm39)	R557G	probably damaging	Het
Nol10	T	G	12: 17,419,507 (GRCm39)	V266G	possibly damaging	Het
Optc	C	A	1: 133,828,872 (GRCm39)	A245S	probably damaging	Het
Or52ae7	A	T	7: 103,119,524 (GRCm39)	I93F	probably benign	Het
Or5b111	A	T	19: 13,291,196 (GRCm39)	F151Y	probably damaging	Het
Or6c75	A	T	10: 129,336,951 (GRCm39)	Y58F	probably damaging	Het
Or8i2	T	A	2: 86,852,879 (GRCm39)	E3V	possibly damaging	Het
Pcdhb11	A	G	18: 37,556,037 (GRCm39)	T456A	possibly damaging	Het
Pkd1	A	G	17: 24,794,751 (GRCm39)	E2146G	possibly damaging	Het
Pkdrej	A	T	15: 85,702,012 (GRCm39)	I1308N	probably damaging	Het
Plekha3	A	T	2: 76,523,006 (GRCm39)	I225F	probably benign	Het
Ppp1r3c	A	T	19: 36,711,736 (GRCm39)	D11E	probably benign	Het
Pprc1	A	G	19: 46,054,118 (GRCm39)	D1155G	unknown	Het
Prcc	T	C	3: 87,792,232 (GRCm39)	K140E	probably damaging	Het
Pth1r	A	T	9: 110,554,229 (GRCm39)	V334D	possibly damaging	Het
Rab3d	G	A	9: 21,826,060 (GRCm39)	T118M	probably damaging	Het
Ric8a	A	G	7: 140,438,379 (GRCm39)	E206G	probably benign	Het
Rps17	C	A	7: 80,994,660 (GRCm39)	V34L	probably benign	Het
Serpinb13	T	C	1: 106,928,165 (GRCm39)	S262P	probably damaging	Het
Serpinb6b	T	A	13: 33,162,035 (GRCm39)	L278Q	probably damaging	Het
Slc1a3	C	T	15: 8,680,332 (GRCm39)		probably null	Het
Slc27a5	C	A	7: 12,725,090 (GRCm39)	R452S	probably benign	Het
Slc45a2	T	A	15: 11,001,122 (GRCm39)	W74R	probably damaging	Het
Slc4a2	A	G	5: 24,635,092 (GRCm39)	T175A	probably benign	Het
Sos1	C	A	17: 80,705,879 (GRCm39)	G1231C	possibly damaging	Het
Spata32	T	C	11: 103,100,143 (GRCm39)	T121A	probably damaging	Het
Srd5a3	T	A	5: 76,301,437 (GRCm39)	F222Y	probably benign	Het
Stag3	T	C	5: 138,289,666 (GRCm39)	Y279H	probably damaging	Het
Stk31	T	C	6: 49,423,134 (GRCm39)	I795T	possibly damaging	Het
Syne2	T	C	12: 76,146,197 (GRCm39)	I1665T	probably damaging	Het
Tas2r118	A	G	6: 23,970,020 (GRCm39)	Y14H	probably damaging	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Tnik	T	G	3: 28,587,044 (GRCm39)	M105R	unknown	Het
Trrap	A	G	5: 144,740,162 (GRCm39)	T1195A	probably damaging	Het
Usf1	T	A	1: 171,245,101 (GRCm39)		probably null	Het
Usp53	G	A	3: 122,754,981 (GRCm39)	T158I	probably damaging	Het
Uty	T	C	Y: 1,099,748 (GRCm39)	E1149G	possibly damaging	Het
Vmn2r23	G	A	6: 123,719,079 (GRCm39)	V811M	possibly damaging	Het
Zfp663	T	A	2: 165,194,958 (GRCm39)	K420N	probably damaging	Het
Zfp703	T	C	8: 27,468,302 (GRCm39)	S91P	possibly damaging	Het
Zpld2	T	C	4: 133,929,712 (GRCm39)	T198A	probably damaging	Het
Zscan4-ps1	A	C	7: 10,800,250 (GRCm39)	I213S	probably benign	Het

Other mutations in Or51a43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01614:Or51a43	APN	7	103,717,576 (GRCm39)	missense	probably benign	0.00
IGL02937:Or51a43	APN	7	103,718,056 (GRCm39)	missense	probably damaging	0.99
IGL03188:Or51a43	APN	7	103,717,945 (GRCm39)	missense	possibly damaging	0.89
FR4737:Or51a43	UTSW	7	103,720,499 (GRCm39)	start gained	probably benign
R0467:Or51a43	UTSW	7	103,717,332 (GRCm39)	missense	probably benign	0.07
R1310:Or51a43	UTSW	7	103,717,805 (GRCm39)	missense	probably benign
R1457:Or51a43	UTSW	7	103,717,666 (GRCm39)	missense	probably damaging	1.00
R1619:Or51a43	UTSW	7	103,717,738 (GRCm39)	missense	probably damaging	1.00
R1874:Or51a43	UTSW	7	103,717,336 (GRCm39)	missense	probably null	1.00
R2428:Or51a43	UTSW	7	103,717,675 (GRCm39)	nonsense	probably null
R2922:Or51a43	UTSW	7	103,717,794 (GRCm39)	missense	probably benign	0.09
R2923:Or51a43	UTSW	7	103,717,794 (GRCm39)	missense	probably benign	0.09
R3929:Or51a43	UTSW	7	103,717,791 (GRCm39)	missense	probably benign	0.06
R4500:Or51a43	UTSW	7	103,717,402 (GRCm39)	missense	probably damaging	1.00
R5035:Or51a43	UTSW	7	103,717,614 (GRCm39)	missense	possibly damaging	0.95
R5303:Or51a43	UTSW	7	103,718,239 (GRCm39)	utr 5 prime	probably benign
R5464:Or51a43	UTSW	7	103,717,674 (GRCm39)	missense	possibly damaging	0.72
R5722:Or51a43	UTSW	7	103,717,930 (GRCm39)	missense	probably damaging	1.00
R5742:Or51a43	UTSW	7	103,717,412 (GRCm39)	missense	probably damaging	0.97
R6874:Or51a43	UTSW	7	103,717,396 (GRCm39)	missense	possibly damaging	0.50
R6940:Or51a43	UTSW	7	103,717,620 (GRCm39)	missense	possibly damaging	0.82
R7848:Or51a43	UTSW	7	103,717,302 (GRCm39)	missense	probably benign
R8343:Or51a43	UTSW	7	103,717,383 (GRCm39)	missense	probably damaging	1.00
R8714:Or51a43	UTSW	7	103,717,483 (GRCm39)	missense	probably damaging	0.97
R8866:Or51a43	UTSW	7	103,718,119 (GRCm39)	missense	probably damaging	0.99
R8909:Or51a43	UTSW	7	103,718,032 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATTTGGGACATGCAGGAG -3'
(R):5'- TGGCATAAGAGATACATTGTCCAGAG -3'

Sequencing Primer
(F):5'- CATGCAGGAGTTAAAACTGATCTCTC -3'
(R):5'- GTCCAGAGATCACAGACACTATTATG -3'

Posted On

2021-10-11