Mutagenetix > Incidental Mutation

Incidental Mutation 'R5266:Or5d43'

401686

Institutional Source

Beutler Lab

Gene Symbol

Or5d43

Ensembl Gene

ENSMUSG00000075132

Gene Name

olfactory receptor family 5 subfamily D member 43

Synonyms

MOR174-20_p, GA_x6K02T2Q125-49759783-49758845, Olfr1173

MMRRC Submission

042858-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88104453-88105391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88104565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 276 (Y276C)

Ref Sequence

ENSEMBL: ENSMUSP00000149617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099830] [ENSMUST00000216887]

AlphaFold

Q7TR24

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099830
AA Change: Y276C

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

SMART Domains

Protein: ENSMUSP00000097418
Gene: ENSMUSG00000075132
AA Change: Y276C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.6e-46	PFAM
Pfam:7tm_1	39	288	1.3e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216887
AA Change: Y276C

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

97% (56/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	C	18: 70,591,455 (GRCm39)	N457S	probably damaging	Het
Asic4	G	A	1: 75,427,567 (GRCm39)	G31E	probably benign	Het
Atp2a3	A	G	11: 72,866,223 (GRCm39)	D281G	probably damaging	Het
Azin1	T	C	15: 38,491,795 (GRCm39)	D387G	probably benign	Het
Bdp1	T	C	13: 100,204,043 (GRCm39)	M660V	probably benign	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Cfap54	T	G	10: 92,651,764 (GRCm39)	K3095N	probably benign	Het
Chl1	A	G	6: 103,677,504 (GRCm39)	N706S	probably damaging	Het
Crym	A	G	7: 119,798,517 (GRCm39)	V113A	probably benign	Het
Cux1	A	G	5: 136,341,548 (GRCm39)	S607P	probably damaging	Het
Cyp3a44	T	C	5: 145,731,207 (GRCm39)	N198D	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Elac1	A	G	18: 73,875,740 (GRCm39)	V97A	probably benign	Het
Erbb3	G	A	10: 128,405,505 (GRCm39)	T1251M	probably damaging	Het
Gask1b	T	A	3: 79,843,910 (GRCm39)	N12K	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hydin	A	G	8: 111,061,416 (GRCm39)	H316R	possibly damaging	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Lyst	T	C	13: 13,835,555 (GRCm39)	Y1746H	probably damaging	Het
Map3k11	T	A	19: 5,750,622 (GRCm39)	N613K	probably benign	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mrm1	A	T	11: 84,710,086 (GRCm39)	L38Q	possibly damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Ndst2	G	A	14: 20,774,555 (GRCm39)	R834W	probably damaging	Het
Opa1	T	A	16: 29,436,948 (GRCm39)	I637N	probably benign	Het
Or52h9	A	T	7: 104,203,026 (GRCm39)	Q300L	probably benign	Het
Padi4	A	G	4: 140,473,442 (GRCm39)	V665A	possibly damaging	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pkp3	A	G	7: 140,663,190 (GRCm39)	D345G	probably damaging	Het
Pla2g4a	T	C	1: 149,740,918 (GRCm39)	M366V	possibly damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pon3	T	C	6: 5,240,860 (GRCm39)	D34G	possibly damaging	Het
Ppargc1b	A	T	18: 61,448,876 (GRCm39)	S133T	probably damaging	Het
Ppp4r3b	T	C	11: 29,123,309 (GRCm39)	S2P	possibly damaging	Het
Rbm20	A	G	19: 53,801,818 (GRCm39)	T109A	probably damaging	Het
Rexo5	C	A	7: 119,443,660 (GRCm39)	H690Q	probably benign	Het
Scube2	C	T	7: 109,408,437 (GRCm39)	G670D	probably damaging	Het
Sipa1l2	T	C	8: 126,218,865 (GRCm39)	I157M	probably damaging	Het
Slbp	A	T	5: 33,801,210 (GRCm39)	I167N	probably damaging	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Stk36	T	C	1: 74,650,317 (GRCm39)	V283A	probably benign	Het
Tead1	A	G	7: 112,358,673 (GRCm39)		probably benign	Het
Tecpr2	G	C	12: 110,881,836 (GRCm39)	W135S	probably damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Ttc39a	A	T	4: 109,279,701 (GRCm39)	I112F	probably benign	Het
Vmn1r128	A	T	7: 21,083,328 (GRCm39)	T11S	probably benign	Het
Vnn1	G	A	10: 23,779,303 (GRCm39)	C404Y	probably damaging	Het
Wdr41	T	C	13: 95,131,759 (GRCm39)	F57L	probably damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Zfp985	A	T	4: 147,667,289 (GRCm39)		probably null	Het
Zfpm2	T	C	15: 40,962,865 (GRCm39)	S176P	probably benign	Het

Other mutations in Or5d43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Or5d43	APN	2	88,105,060 (GRCm39)	missense	probably damaging	1.00
IGL01751:Or5d43	APN	2	88,104,977 (GRCm39)	missense	possibly damaging	0.60
IGL02009:Or5d43	APN	2	88,105,056 (GRCm39)	missense	probably benign	0.06
IGL02148:Or5d43	APN	2	88,104,566 (GRCm39)	missense	possibly damaging	0.94
IGL02833:Or5d43	APN	2	88,104,776 (GRCm39)	missense	probably benign
IGL03001:Or5d43	APN	2	88,105,189 (GRCm39)	missense	probably damaging	1.00
R0471:Or5d43	UTSW	2	88,104,559 (GRCm39)	missense	possibly damaging	0.95
R2136:Or5d43	UTSW	2	88,104,584 (GRCm39)	missense	probably damaging	0.98
R2141:Or5d43	UTSW	2	88,105,354 (GRCm39)	missense	probably benign	0.30
R3957:Or5d43	UTSW	2	88,105,348 (GRCm39)	missense	probably damaging	1.00
R4801:Or5d43	UTSW	2	88,105,223 (GRCm39)	missense	probably damaging	1.00
R4802:Or5d43	UTSW	2	88,105,223 (GRCm39)	missense	probably damaging	1.00
R5371:Or5d43	UTSW	2	88,104,976 (GRCm39)	missense	probably damaging	1.00
R5775:Or5d43	UTSW	2	88,105,045 (GRCm39)	missense	probably damaging	0.98
R7222:Or5d43	UTSW	2	88,104,809 (GRCm39)	missense	probably benign	0.00
R7493:Or5d43	UTSW	2	88,105,445 (GRCm39)	start gained	probably benign
R7503:Or5d43	UTSW	2	88,105,039 (GRCm39)	missense	probably damaging	1.00
R7586:Or5d43	UTSW	2	88,104,794 (GRCm39)	missense	probably damaging	0.98
R8192:Or5d43	UTSW	2	88,105,288 (GRCm39)	missense	probably damaging	0.99
R8354:Or5d43	UTSW	2	88,105,036 (GRCm39)	missense	probably damaging	1.00
R8530:Or5d43	UTSW	2	88,105,154 (GRCm39)	missense	probably damaging	1.00
R9235:Or5d43	UTSW	2	88,104,724 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCAATGAGCTTGAATCAGAGTACAG -3'
(R):5'- TTGTCACAATCATCAAGATGCC -3'

Sequencing Primer
(F):5'- GCTTGAATCAGAGTACAGAACATTTG -3'
(R):5'- CCTTCTAAAGGTGGACTCAGAAAAGC -3'

Posted On

2016-07-06