Mutagenetix > Incidental Mutation

Incidental Mutation 'R1462:Or5w13'

186283

Institutional Source

Beutler Lab

Gene Symbol

Or5w13

Ensembl Gene

ENSMUSG00000075151

Gene Name

olfactory receptor family 5 subfamily W member 13

Synonyms

Olfr1136, MOR177-3, GA_x6K02T2Q125-49193051-49192119

MMRRC Submission

039516-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87523225-87524291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87523720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 169 (C169S)

Ref Sequence

ENSEMBL: ENSMUSP00000076681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077471] [ENSMUST00000099852]

AlphaFold

Q0VBI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000077471
AA Change: C169S

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

SMART Domains

Protein: ENSMUSP00000076681
Gene: ENSMUSG00000075151
AA Change: C169S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	6e-48	PFAM
Pfam:7tm_1	40	289	2e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099852
AA Change: C169S

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

SMART Domains

Protein: ENSMUSP00000097438
Gene: ENSMUSG00000068815
AA Change: C169S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2e-41	PFAM
Pfam:7tm_1	41	290	4.3e-14	PFAM

Meta Mutation Damage Score

0.3486

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,642,370 (GRCm39)	S104*	probably null	Het
A430093F15Rik	A	T	19: 10,762,845 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,433,924 (GRCm39)		probably benign	Het
Abca9	T	C	11: 110,051,342 (GRCm39)	D118G	probably benign	Het
Adamts16	A	G	13: 70,984,253 (GRCm39)	F137L	probably benign	Het
Adamts3	T	C	5: 90,009,208 (GRCm39)	I152V	probably benign	Het
Adcy4	T	A	14: 56,015,765 (GRCm39)	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,455,745 (GRCm39)	Y458N	probably damaging	Het
Atpaf1	C	T	4: 115,642,150 (GRCm39)		probably benign	Het
Bhlhe22	C	G	3: 18,109,946 (GRCm39)	S332C	probably damaging	Het
Card19	T	A	13: 49,358,760 (GRCm39)	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,485,662 (GRCm39)	L11P	probably damaging	Het
Cdadc1	A	G	14: 59,813,307 (GRCm39)	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,719,288 (GRCm39)	Q542K	possibly damaging	Het
Ceacam23	T	G	7: 17,649,516 (GRCm39)		noncoding transcript	Het
Cep170	T	C	1: 176,584,211 (GRCm39)	K723E	possibly damaging	Het
Cep70	A	G	9: 99,145,773 (GRCm39)	I147V	probably benign	Het
Cfap58	A	T	19: 47,950,869 (GRCm39)	H410L	probably damaging	Het
Chat	T	C	14: 32,142,735 (GRCm39)	K418R	probably damaging	Het
Cic	T	G	7: 24,971,032 (GRCm39)	D254E	probably damaging	Het
Ckap4	T	C	10: 84,363,431 (GRCm39)	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,763,739 (GRCm39)	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,380,632 (GRCm39)	N418D	probably damaging	Het
Daam1	A	T	12: 71,990,916 (GRCm39)	I177L	unknown	Het
Dnah1	T	C	14: 30,990,738 (GRCm39)		probably benign	Het
Ercc5	A	G	1: 44,219,784 (GRCm39)	T1019A	probably damaging	Het
F13b	T	A	1: 139,435,374 (GRCm39)	V173E	probably damaging	Het
Fam135b	A	G	15: 71,493,845 (GRCm39)		probably benign	Het
Fam20a	A	C	11: 109,568,143 (GRCm39)	F316V	probably damaging	Het
Flrt2	T	C	12: 95,746,112 (GRCm39)	V150A	probably damaging	Het
Fnta	A	C	8: 26,489,599 (GRCm39)		probably null	Het
Ghsr	A	G	3: 27,426,025 (GRCm39)	D27G	probably benign	Het
Glis3	G	T	19: 28,239,918 (GRCm39)		probably benign	Het
Gtpbp1	A	G	15: 79,592,086 (GRCm39)	N96D	probably damaging	Het
H1f7	A	T	15: 98,154,454 (GRCm39)	W232R	unknown	Het
Hycc1	A	G	5: 24,190,730 (GRCm39)		probably benign	Het
Ibtk	A	T	9: 85,606,198 (GRCm39)	I443N	probably damaging	Het
Ifi207	T	C	1: 173,552,513 (GRCm39)	H968R	probably damaging	Het
Ifit2	A	G	19: 34,550,586 (GRCm39)	D42G	probably null	Het
Il17rc	A	T	6: 113,455,950 (GRCm39)	D265V	probably damaging	Het
Ints10	G	A	8: 69,260,296 (GRCm39)		probably benign	Het
Itfg2	T	C	6: 128,401,691 (GRCm39)	D29G	probably damaging	Het
Itprid1	A	G	6: 55,952,649 (GRCm39)	H864R	probably damaging	Het
Kcng3	A	T	17: 83,938,492 (GRCm39)	C186S	probably damaging	Het
Lrrc1	A	G	9: 77,349,547 (GRCm39)	F295L	probably benign	Het
Mrps28	T	A	3: 8,965,184 (GRCm39)	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,499,693 (GRCm39)	K37M	possibly damaging	Het
Mug1	C	T	6: 121,859,588 (GRCm39)	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084 (GRCm39)	H60R	possibly damaging	Het
Musk	A	G	4: 58,286,204 (GRCm39)		probably benign	Het
Mybl2	T	C	2: 162,914,628 (GRCm39)	S249P	probably benign	Het
Naip6	A	G	13: 100,436,748 (GRCm39)	Y592H	possibly damaging	Het
Nrp1	A	G	8: 129,229,279 (GRCm39)	N919S	probably benign	Het
Nudt9	C	T	5: 104,212,904 (GRCm39)	Q326*	probably null	Het
Or6c76b	A	G	10: 129,693,100 (GRCm39)	T238A	probably damaging	Het
Or7g17	T	A	9: 18,768,407 (GRCm39)	M162K	probably benign	Het
Or9k7	T	A	10: 130,046,592 (GRCm39)	I136F	probably benign	Het
Pcsk4	T	C	10: 80,161,815 (GRCm39)	E142G	probably damaging	Het
Pde3a	C	A	6: 141,405,560 (GRCm39)	P471T	probably benign	Het
Pign	A	T	1: 105,512,727 (GRCm39)	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,181,672 (GRCm39)	M420K	probably damaging	Het
Prr14	T	A	7: 127,073,160 (GRCm39)		probably null	Het
Rchy1	T	A	5: 92,105,741 (GRCm39)	Q69L	probably damaging	Het
Sccpdh	A	C	1: 179,509,125 (GRCm39)		probably benign	Het
Sec23ip	T	G	7: 128,367,862 (GRCm39)	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,473,925 (GRCm39)	S47P	probably damaging	Het
Speer4a3	T	A	5: 26,156,623 (GRCm39)	I119F	possibly damaging	Het
Stil	G	A	4: 114,881,161 (GRCm39)	M568I	probably benign	Het
Syt3	T	A	7: 44,045,434 (GRCm39)	V558E	probably damaging	Het
Sytl3	A	G	17: 6,973,430 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,231,164 (GRCm39)	V2533A	unknown	Het
Tenm4	A	G	7: 96,353,360 (GRCm39)	Y384C	probably damaging	Het
Tfam	T	C	10: 71,071,380 (GRCm39)	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,714,304 (GRCm39)	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,409,566 (GRCm39)	Y15*	probably null	Het
Uhrf1	C	T	17: 56,625,035 (GRCm39)	A526V	probably damaging	Het
Vmn2r67	T	C	7: 84,805,046 (GRCm39)	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,817,660 (GRCm39)	I412M	possibly damaging	Het
Vmn2r-ps69	T	A	7: 84,959,560 (GRCm39)		noncoding transcript	Het
Wdr17	A	T	8: 55,123,363 (GRCm39)	I479K	probably damaging	Het
Wt1	T	C	2: 104,997,176 (GRCm39)	V371A	probably damaging	Het
Zfp536	G	T	7: 37,178,735 (GRCm39)	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,803,108 (GRCm39)	V560A	probably benign	Het

Other mutations in Or5w13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01809:Or5w13	APN	2	87,524,089 (GRCm39)	missense	possibly damaging	0.73
IGL02190:Or5w13	APN	2	87,523,407 (GRCm39)	missense	probably benign	0.21
IGL02902:Or5w13	APN	2	87,523,344 (GRCm39)	missense	probably damaging	1.00
PIT4508001:Or5w13	UTSW	2	87,524,059 (GRCm39)	missense	probably damaging	1.00
R0153:Or5w13	UTSW	2	87,523,948 (GRCm39)	missense	probably benign	0.05
R0665:Or5w13	UTSW	2	87,524,152 (GRCm39)	missense	probably benign	0.00
R1462:Or5w13	UTSW	2	87,523,720 (GRCm39)	missense	probably damaging	1.00
R1518:Or5w13	UTSW	2	87,523,872 (GRCm39)	missense	probably damaging	1.00
R1812:Or5w13	UTSW	2	87,523,447 (GRCm39)	missense	probably benign	0.01
R1993:Or5w13	UTSW	2	87,523,777 (GRCm39)	missense	probably benign	0.07
R2098:Or5w13	UTSW	2	87,524,073 (GRCm39)	missense	probably benign	0.25
R3106:Or5w13	UTSW	2	87,523,849 (GRCm39)	missense	probably damaging	0.98
R4622:Or5w13	UTSW	2	87,523,987 (GRCm39)	nonsense	probably null
R4694:Or5w13	UTSW	2	87,524,104 (GRCm39)	missense	probably benign	0.03
R5079:Or5w13	UTSW	2	87,523,552 (GRCm39)	missense	probably damaging	0.99
R5474:Or5w13	UTSW	2	87,523,401 (GRCm39)	missense	probably damaging	1.00
R6432:Or5w13	UTSW	2	87,523,872 (GRCm39)	missense	probably damaging	1.00
R6667:Or5w13	UTSW	2	87,523,914 (GRCm39)	missense	probably benign	0.00
R7519:Or5w13	UTSW	2	87,523,753 (GRCm39)	missense	probably benign	0.01
R7652:Or5w13	UTSW	2	87,523,704 (GRCm39)	missense	probably damaging	1.00
R7657:Or5w13	UTSW	2	87,523,336 (GRCm39)	missense	probably damaging	0.99
R8230:Or5w13	UTSW	2	87,523,705 (GRCm39)	missense	probably damaging	1.00
R8439:Or5w13	UTSW	2	87,524,088 (GRCm39)	missense	probably damaging	1.00
R8799:Or5w13	UTSW	2	87,524,057 (GRCm39)	missense	possibly damaging	0.73
R9448:Or5w13	UTSW	2	87,523,824 (GRCm39)	missense	probably damaging	0.98
R9657:Or5w13	UTSW	2	87,524,121 (GRCm39)	missense	probably damaging	1.00
Z1176:Or5w13	UTSW	2	87,523,495 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTCTGAGCCTGACCAATGCTTC -3'
(R):5'- GGCGGTGATGGCCTTTGATAGATAC -3'

Sequencing Primer
(F):5'- CATGAAGAGCATAGTCCCCTGG -3'
(R):5'- GCCTTTGATAGATACAAGGCCATC -3'

Posted On

2014-05-09