Mutagenetix > Incidental Mutation

Incidental Mutation 'R0316:Or5b99'

34235

Institutional Source

Beutler Lab

Gene Symbol

Or5b99

Ensembl Gene

ENSMUSG00000046913

Gene Name

olfactory receptor family 5 subfamily B member 99

Synonyms

GA_x6K02T2RE5P-3328502-3329434, Olfr1451, MOR202-1

MMRRC Submission

038526-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R0316 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12976352-12977284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12976766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 139 (C139S)

Ref Sequence

ENSEMBL: ENSMUSP00000146874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063144] [ENSMUST00000207997]

AlphaFold

Q8VFX5

Predicted Effect

probably damaging
Transcript: ENSMUST00000063144
AA Change: C139S

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

SMART Domains

Protein: ENSMUSP00000049885
Gene: ENSMUSG00000046913
AA Change: C139S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2e-51	PFAM
Pfam:7TM_GPCR_Srsx	33	303	2.2e-5	PFAM
Pfam:7tm_1	39	289	6.9e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207997
AA Change: C139S

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.2%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,888,765 (GRCm39)	F276I	probably damaging	Het
Ado	A	G	10: 67,384,548 (GRCm39)	L19P	possibly damaging	Het
Ago2	T	C	15: 73,002,725 (GRCm39)	H169R	probably damaging	Het
Asic1	G	A	15: 99,569,819 (GRCm39)	A47T	probably benign	Het
Atg16l2	A	T	7: 100,942,603 (GRCm39)	I364N	probably damaging	Het
C130050O18Rik	G	A	5: 139,400,313 (GRCm39)	R122Q	probably damaging	Het
Capn7	T	A	14: 31,069,766 (GRCm39)	C197S	probably benign	Het
Casp16	T	C	17: 23,771,066 (GRCm39)	D113G	probably damaging	Het
Cdh18	T	A	15: 23,366,999 (GRCm39)	V235D	probably damaging	Het
Clca4a	G	T	3: 144,659,525 (GRCm39)	T777K	probably damaging	Het
Col17a1	A	G	19: 47,673,972 (GRCm39)		probably null	Het
Col5a3	C	A	9: 20,686,621 (GRCm39)	D1335Y	unknown	Het
Cpxm1	T	C	2: 130,235,091 (GRCm39)	E576G	probably damaging	Het
Dcbld2	T	C	16: 58,253,808 (GRCm39)	S182P	probably damaging	Het
Dclk1	C	T	3: 55,410,313 (GRCm39)	S616L	probably damaging	Het
Dll4	C	A	2: 119,161,634 (GRCm39)	D405E	probably damaging	Het
Dnah1	G	A	14: 31,000,108 (GRCm39)	R2462C	probably benign	Het
Dnah3	A	T	7: 119,564,882 (GRCm39)	Y2594N	possibly damaging	Het
Ess2	G	A	16: 17,727,958 (GRCm39)	P103S	probably benign	Het
Fam110a	C	A	2: 151,812,006 (GRCm39)	A255S	probably benign	Het
Fbn2	G	A	18: 58,246,397 (GRCm39)	R502W	probably damaging	Het
Fgl2	A	G	5: 21,580,521 (GRCm39)	S288G	possibly damaging	Het
Gm1527	T	C	3: 28,969,923 (GRCm39)	S342P	probably damaging	Het
Gm19668	A	T	10: 77,634,564 (GRCm39)		probably benign	Het
Gm5901	A	T	7: 105,026,522 (GRCm39)	T97S	probably damaging	Het
Greb1l	A	G	18: 10,547,420 (GRCm39)	Y1546C	probably damaging	Het
Impg1	A	T	9: 80,249,347 (GRCm39)	S619T	probably damaging	Het
Itih2	C	A	2: 10,110,057 (GRCm39)	Q565H	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,464 (GRCm39)	N386K	probably benign	Het
Lama3	T	C	18: 12,652,934 (GRCm39)	M218T	probably benign	Het
Lipg	T	C	18: 75,094,012 (GRCm39)	S12G	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mex3d	G	T	10: 80,217,505 (GRCm39)	P571T	probably damaging	Het
Neb	A	C	2: 52,085,482 (GRCm39)	Y1538D	possibly damaging	Het
Nsd1	T	C	13: 55,361,584 (GRCm39)	I184T	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5w18	T	C	2: 87,633,525 (GRCm39)	F264S	probably damaging	Het
Pacs1	T	C	19: 5,185,149 (GRCm39)		silent	Het
Pdcd11	T	C	19: 47,101,611 (GRCm39)	V932A	probably damaging	Het
Pkd2	A	G	5: 104,625,032 (GRCm39)	D276G	probably damaging	Het
Pkia	T	A	3: 7,502,499 (GRCm39)	D25E	probably damaging	Het
Plxna2	A	C	1: 194,326,458 (GRCm39)	S131R	probably damaging	Het
Prelid1	T	C	13: 55,472,220 (GRCm39)	V132A	possibly damaging	Het
Psma3	T	C	12: 71,030,163 (GRCm39)	Y59H	probably benign	Het
Ptchd3	A	C	11: 121,732,916 (GRCm39)	E602A	possibly damaging	Het
Ptpro	T	C	6: 137,353,987 (GRCm39)	V121A	possibly damaging	Het
Ptprt	A	G	2: 161,449,239 (GRCm39)	L878P	probably damaging	Het
Pxn	G	A	5: 115,692,027 (GRCm39)	G370S	probably damaging	Het
Rcn2	G	T	9: 55,949,453 (GRCm39)	A40S	probably benign	Het
Rnf215	A	G	11: 4,089,760 (GRCm39)	N258D	probably damaging	Het
Rnpc3	T	C	3: 113,423,622 (GRCm39)	T28A	probably damaging	Het
Rtel1	T	A	2: 180,997,795 (GRCm39)	V1100E	possibly damaging	Het
Scn3a	T	A	2: 65,291,173 (GRCm39)	I1858F	probably damaging	Het
Slc9c1	G	A	16: 45,400,595 (GRCm39)	R735Q	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Spata13	A	G	14: 60,929,788 (GRCm39)	T449A	probably benign	Het
Svep1	A	G	4: 58,072,737 (GRCm39)	W2191R	probably damaging	Het
Thbs1	G	A	2: 117,948,055 (GRCm39)	R405H	probably damaging	Het
Tnn	A	G	1: 159,948,137 (GRCm39)	Y859H	possibly damaging	Het
Tonsl	A	G	15: 76,513,500 (GRCm39)	S1245P	possibly damaging	Het
Tpcn1	G	A	5: 120,677,324 (GRCm39)	T661M	probably damaging	Het
Trap1	A	G	16: 3,863,424 (GRCm39)	F533L	probably benign	Het
Ttc23	T	C	7: 67,328,821 (GRCm39)		probably null	Het
Vax2	T	C	6: 83,688,426 (GRCm39)	S50P	possibly damaging	Het
Vmn1r5	A	C	6: 56,962,784 (GRCm39)	E153A	probably benign	Het
Vmn2r14	G	T	5: 109,366,762 (GRCm39)	P486Q	probably benign	Het
Vmn2r96	T	A	17: 18,802,827 (GRCm39)	F246I	probably damaging	Het
Zc3h10	C	A	10: 128,380,624 (GRCm39)	E244D	probably damaging	Het
Zdhhc18	T	A	4: 133,340,966 (GRCm39)	K265*	probably null	Het

Other mutations in Or5b99

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Or5b99	APN	19	12,976,683 (GRCm39)	missense	probably damaging	1.00
IGL01301:Or5b99	APN	19	12,976,781 (GRCm39)	missense	probably damaging	0.99
IGL01369:Or5b99	APN	19	12,977,125 (GRCm39)	missense	possibly damaging	0.78
IGL02098:Or5b99	APN	19	12,976,937 (GRCm39)	missense	probably benign	0.00
IGL02106:Or5b99	APN	19	12,976,929 (GRCm39)	missense	possibly damaging	0.80
IGL02369:Or5b99	APN	19	12,977,072 (GRCm39)	missense	probably damaging	1.00
ANU18:Or5b99	UTSW	19	12,976,781 (GRCm39)	missense	probably damaging	0.99
R0926:Or5b99	UTSW	19	12,976,554 (GRCm39)	missense	probably damaging	1.00
R0988:Or5b99	UTSW	19	12,977,151 (GRCm39)	missense	probably benign	0.39
R1268:Or5b99	UTSW	19	12,976,625 (GRCm39)	missense	possibly damaging	0.80
R1509:Or5b99	UTSW	19	12,976,815 (GRCm39)	missense	possibly damaging	0.54
R1991:Or5b99	UTSW	19	12,976,866 (GRCm39)	missense	possibly damaging	0.60
R2103:Or5b99	UTSW	19	12,976,866 (GRCm39)	missense	possibly damaging	0.60
R2132:Or5b99	UTSW	19	12,976,402 (GRCm39)	missense	probably benign	0.21
R2206:Or5b99	UTSW	19	12,976,404 (GRCm39)	missense	probably benign	0.06
R3687:Or5b99	UTSW	19	12,976,466 (GRCm39)	missense	probably damaging	1.00
R4077:Or5b99	UTSW	19	12,977,235 (GRCm39)	missense	probably damaging	1.00
R4803:Or5b99	UTSW	19	12,976,533 (GRCm39)	missense	probably damaging	1.00
R4948:Or5b99	UTSW	19	12,977,195 (GRCm39)	missense	probably benign	0.06
R4999:Or5b99	UTSW	19	12,976,583 (GRCm39)	missense	probably benign	0.03
R6274:Or5b99	UTSW	19	12,977,234 (GRCm39)	missense	probably damaging	0.97
R6843:Or5b99	UTSW	19	12,976,362 (GRCm39)	missense	probably benign	0.09
R6928:Or5b99	UTSW	19	12,977,202 (GRCm39)	missense	probably damaging	0.99
R6941:Or5b99	UTSW	19	12,976,861 (GRCm39)	missense	possibly damaging	0.86
R7485:Or5b99	UTSW	19	12,976,922 (GRCm39)	missense	probably benign	0.03
R7611:Or5b99	UTSW	19	12,976,431 (GRCm39)	missense	possibly damaging	0.93
R7823:Or5b99	UTSW	19	12,976,781 (GRCm39)	missense	probably damaging	0.99
R8948:Or5b99	UTSW	19	12,976,445 (GRCm39)	missense	probably damaging	1.00
R8950:Or5b99	UTSW	19	12,976,445 (GRCm39)	missense	probably damaging	1.00
R8970:Or5b99	UTSW	19	12,976,353 (GRCm39)	start codon destroyed	probably null	1.00
R9155:Or5b99	UTSW	19	12,976,428 (GRCm39)	missense	probably benign	0.00
R9236:Or5b99	UTSW	19	12,976,763 (GRCm39)	missense	probably damaging	0.99
R9556:Or5b99	UTSW	19	12,976,938 (GRCm39)	missense	probably benign	0.12
R9563:Or5b99	UTSW	19	12,976,983 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CAAGGTGGTCTCCTACAATGCCTG -3'
(R):5'- CATCCATAGAATGGCTGGAGCTGG -3'

Sequencing Primer
(F):5'- TGCGCTGCACAGATGTTC -3'
(R):5'- GGTCTGACTTCATCTTCAAGACAG -3'

Posted On

2013-05-09