Mutagenetix > Incidental Mutation

Incidental Mutation 'R5371:Or5d43'

428701

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

Accession Numbers

Essential gene?

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

Stock #

R5371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88104453-88105391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88104976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 139 (C139F)

Ref Sequence

ENSEMBL: ENSMUSP00000149617 (fasta)

Gene Model

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

AlphaFold

Q7TR24

Predicted Effect

probably damaging
Transcript: ENSMUST00000099830
AA Change: C139F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097418
Gene: ENSMUSG00000075132
AA Change: C139F

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

probably damaging
Transcript: ENSMUST00000216887
AA Change: C139F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (71/74)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,261,918 (GRCm39)		noncoding transcript	Het
Arpp21	G	A	9: 111,895,000 (GRCm39)	P755S	probably benign	Het
Aspm	C	T	1: 139,398,279 (GRCm39)	Q982*	probably null	Het
Atp5f1e	C	T	2: 174,304,319 (GRCm39)		probably benign	Het
BC024139	A	G	15: 76,004,886 (GRCm39)	*598Q	probably null	Het
Bcl6	T	A	16: 23,788,736 (GRCm39)	D544V	possibly damaging	Het
Ccdc9	A	T	7: 16,014,655 (GRCm39)	D195E	probably damaging	Het
Cd38	A	G	5: 44,026,225 (GRCm39)	N3S	probably benign	Het
Cfap46	A	T	7: 139,212,097 (GRCm39)		probably null	Het
Cmtr2	T	C	8: 110,948,044 (GRCm39)	F118S	probably damaging	Het
Cyp7a1	A	G	4: 6,268,378 (GRCm39)	F449S	probably damaging	Het
Dnah10	C	T	5: 124,820,693 (GRCm39)	A509V	probably benign	Het
Dsp	A	T	13: 38,378,865 (GRCm39)	Q1271L	probably damaging	Het
Edar	A	C	10: 58,443,274 (GRCm39)	V284G	possibly damaging	Het
Fdft1	A	G	14: 63,388,750 (GRCm39)	V294A	probably damaging	Het
Gba1	T	A	3: 89,112,778 (GRCm39)	V140E	probably benign	Het
Gm12185	A	T	11: 48,806,566 (GRCm39)	S208R	probably benign	Het
Gm21028	C	A	7: 42,227,946 (GRCm39)	E23*	probably null	Het
Gm6871	A	G	7: 41,222,992 (GRCm39)	L32P	probably benign	Het
Hhip	C	T	8: 80,724,220 (GRCm39)	V341M	probably damaging	Het
Kcnq2	C	A	2: 180,776,813 (GRCm39)	V25L	probably damaging	Het
Krit1	C	A	5: 3,881,551 (GRCm39)	H548N	probably damaging	Het
Kynu	C	T	2: 43,479,406 (GRCm39)	A100V	probably benign	Het
Lpp	T	C	16: 24,708,554 (GRCm39)	C295R	probably damaging	Het
Mdp1	A	G	14: 55,897,806 (GRCm39)	V9A	probably damaging	Het
Mllt3	T	C	4: 87,759,093 (GRCm39)	I318M	possibly damaging	Het
Mpzl3	A	G	9: 44,966,510 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mup8	A	G	4: 60,222,423 (GRCm39)	V16A	probably benign	Het
Myh13	T	A	11: 67,235,616 (GRCm39)		probably null	Het
Myh4	A	T	11: 67,150,150 (GRCm39)	Q1869L	probably damaging	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Olfr908	CACAACAACA	CACAACA	9: 38,427,434 (GRCm39)		probably benign	Het
Or13c7b	A	T	4: 43,821,058 (GRCm39)	M101K	probably damaging	Het
Or51h7	T	A	7: 102,591,719 (GRCm39)	M22L	probably benign	Het
Parp11	T	C	6: 127,447,755 (GRCm39)	F30L	probably damaging	Het
Pcdhgc3	A	T	18: 37,941,507 (GRCm39)	D636V	possibly damaging	Het
Ppp1cb	T	C	5: 32,643,332 (GRCm39)	F234L	probably damaging	Het
Rras2	A	T	7: 113,649,572 (GRCm39)	V164E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Scg3	T	C	9: 75,568,583 (GRCm39)	T390A	probably damaging	Het
Shh	C	A	5: 28,671,688 (GRCm39)	C25F	probably damaging	Het
Slc24a1	T	C	9: 64,856,550 (GRCm39)	K119R	unknown	Het
Speg	G	T	1: 75,408,037 (GRCm39)	R3244L	possibly damaging	Het
Spns1	A	G	7: 125,972,936 (GRCm39)		probably benign	Het
Sptbn4	A	C	7: 27,059,166 (GRCm39)		probably null	Het
Stap1	T	A	5: 86,244,375 (GRCm39)	F214Y	possibly damaging	Het
Tcerg1	T	A	18: 42,652,600 (GRCm39)	M76K	unknown	Het
Tjp1	A	T	7: 64,963,059 (GRCm39)	Y959*	probably null	Het
Tmprss11e	A	T	5: 86,875,225 (GRCm39)	C14S	probably benign	Het
Tnfrsf14	T	C	4: 155,006,934 (GRCm39)		probably null	Het
Tsfm	A	C	10: 126,847,512 (GRCm39)	V193G	probably benign	Het
Ube2q2l	T	A	6: 136,378,371 (GRCm39)	Y153F	probably benign	Het
Ush2a	A	T	1: 188,175,267 (GRCm39)	I1122L	probably benign	Het
Vmn1r74	T	A	7: 11,580,984 (GRCm39)	S95T	probably damaging	Het
Vmn2r98	G	A	17: 19,290,015 (GRCm39)	C517Y	probably damaging	Het
Vstm2b	G	A	7: 40,550,702 (GRCm39)	S99N	possibly damaging	Het
Zbtb24	A	G	10: 41,327,537 (GRCm39)	N141S	probably benign	Het
Zcchc4	T	G	5: 52,942,512 (GRCm39)	C106G	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
R5266:Or5d43	UTSW	2	88,104,565 (GRCm39)	missense	possibly damaging	0.49
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'- CATACCATCTGGCTGAAGGAGG -3'
(R):5'- AGAAGGATCAACCCTAAGCTTC -3'

Sequencing Primer
(F):5'- CTGGCTGAAGGAGGGGTCAG -3'
(R):5'- GTGTAGTTCCACCAAAATTGTTAGAG -3'

Posted On

2016-09-06