Mutagenetix > Incidental Mutation

Incidental Mutation 'R0456:Or5b113'

40061

Institutional Source

Beutler Lab

Gene Symbol

Or5b113

Ensembl Gene

ENSMUSG00000049015

Gene Name

olfactory receptor family 5 subfamily B member 113

Synonyms

GA_x6K02T2RE5P-3695694-3696620, Olfr1467, MOR202-15

MMRRC Submission

038656-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R0456 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13341994-13342920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13342102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 37 (T37A)

Ref Sequence

ENSEMBL: ENSMUSP00000149487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054687] [ENSMUST00000215096]

AlphaFold

Q8VFW1

Predicted Effect

probably damaging
Transcript: ENSMUST00000054687
AA Change: T37A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061580
Gene: ENSMUSG00000049015
AA Change: T37A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	6.6e-48	PFAM
Pfam:7tm_1	40	289	7.4e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215096
AA Change: T37A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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
Ankrd29	G	A	18: 12,429,036 (GRCm39)	P11L	probably damaging	Het
Antxr1	A	C	6: 87,194,257 (GRCm39)	V347G	probably damaging	Het
Atp13a5	T	C	16: 29,051,492 (GRCm39)	N1127D	probably benign	Het
Bivm	T	A	1: 44,165,969 (GRCm39)	W140R	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ceacam5	T	C	7: 17,494,776 (GRCm39)	V928A	possibly damaging	Het
Chia1	T	C	3: 106,035,795 (GRCm39)	Y152H	probably damaging	Het
Chsy3	A	T	18: 59,309,550 (GRCm39)	I268F	probably damaging	Het
CK137956	A	T	4: 127,839,100 (GRCm39)	N439K	probably damaging	Het
Csf3r	C	A	4: 125,929,654 (GRCm39)	N392K	probably damaging	Het
Cyp1b1	T	C	17: 80,017,704 (GRCm39)	I484V	probably benign	Het
Dsc1	T	C	18: 20,232,169 (GRCm39)	K280E	probably damaging	Het
Eefsec	A	G	6: 88,274,870 (GRCm39)	Y365H	probably benign	Het
Epb41l4b	C	T	4: 57,142,843 (GRCm39)		probably null	Het
Erap1	G	A	13: 74,812,339 (GRCm39)	V385I	probably benign	Het
Fat1	A	T	8: 45,482,571 (GRCm39)	I3077F	probably damaging	Het
Fras1	T	G	5: 96,862,202 (GRCm39)		probably null	Het
Fras1	G	T	5: 96,702,647 (GRCm39)	G230C	probably damaging	Het
Gsg1l	A	G	7: 125,522,682 (GRCm39)	M182T	possibly damaging	Het
Gzmg	A	G	14: 56,395,779 (GRCm39)	V60A	probably damaging	Het
H4c6	T	C	13: 23,735,561 (GRCm39)	D86G	probably damaging	Het
Hapln4	A	T	8: 70,537,645 (GRCm39)	Y113F	probably benign	Het
Ikzf4	T	A	10: 128,471,677 (GRCm39)	T274S	probably damaging	Het
Kansl1l	T	A	1: 66,774,885 (GRCm39)	H302L	probably damaging	Het
Klhl41	T	C	2: 69,500,893 (GRCm39)	V118A	probably damaging	Het
Kpna1	T	C	16: 35,823,270 (GRCm39)	S41P	possibly damaging	Het
Krt23	A	G	11: 99,377,604 (GRCm39)	V134A	probably benign	Het
Lamb1	G	A	12: 31,354,729 (GRCm39)	C992Y	probably damaging	Het
Lrif1	C	T	3: 106,639,094 (GRCm39)	P35S	probably benign	Het
Lrrc4	A	G	6: 28,831,103 (GRCm39)	S171P	probably damaging	Het
Lvrn	G	A	18: 46,997,883 (GRCm39)		probably null	Het
Matr3	T	A	18: 35,705,917 (GRCm39)	F281I	probably damaging	Het
Meak7	A	T	8: 120,495,162 (GRCm39)	F199I	probably damaging	Het
Nxn	G	A	11: 76,153,963 (GRCm39)	Q291*	probably null	Het
Pdp2	G	T	8: 105,320,421 (GRCm39)	R90L	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,291 (GRCm39)	E160*	probably null	Het
Ppp2r5c	T	G	12: 110,489,013 (GRCm39)	S118R	probably damaging	Het
Ptpn23	G	T	9: 110,218,861 (GRCm39)		probably null	Het
Ptpro	G	T	6: 137,391,228 (GRCm39)	V783L	probably benign	Het
Rab40c	A	G	17: 26,103,631 (GRCm39)	V144A	possibly damaging	Het
Rasal2	T	C	1: 156,977,413 (GRCm39)	N1087S	probably damaging	Het
Rfc3	T	A	5: 151,570,988 (GRCm39)	S103C	possibly damaging	Het
Rgl2	A	G	17: 34,155,823 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rit2	A	T	18: 31,108,504 (GRCm39)	F160L	probably benign	Het
Rnh1	A	G	7: 140,742,461 (GRCm39)	S366P	possibly damaging	Het
Sdk2	T	C	11: 113,682,292 (GRCm39)	Y2029C	possibly damaging	Het
Smpd3	T	A	8: 106,986,288 (GRCm39)	I505F	probably benign	Het
Sorcs3	A	T	19: 48,642,483 (GRCm39)	S379C	possibly damaging	Het
Sult1e1	A	G	5: 87,726,493 (GRCm39)	L207P	possibly damaging	Het
Sycp2	C	G	2: 178,023,648 (GRCm39)	S456T	probably benign	Het
Syne1	T	C	10: 5,292,252 (GRCm39)	T1339A	probably benign	Het
Tas2r117	A	G	6: 132,780,354 (GRCm39)	N164S	probably benign	Het
Tigd3	A	G	19: 5,942,821 (GRCm39)	L103P	probably damaging	Het
Tmem132b	T	C	5: 125,864,788 (GRCm39)	S965P	probably damaging	Het
Tmem82	T	C	4: 141,344,701 (GRCm39)	T81A	probably benign	Het
Tmem8b	A	G	4: 43,685,618 (GRCm39)	T156A	probably benign	Het
Tnfrsf21	A	G	17: 43,348,982 (GRCm39)	E198G	probably benign	Het
Tnpo2	A	G	8: 85,781,045 (GRCm39)	N767S	probably damaging	Het
Trf	T	C	9: 103,104,102 (GRCm39)	Y87C	probably damaging	Het
Tst	A	G	15: 78,289,780 (GRCm39)	V85A	probably damaging	Het
Usp37	A	T	1: 74,507,507 (GRCm39)	N503K	probably damaging	Het
Utp20	C	T	10: 88,590,435 (GRCm39)	M2346I	possibly damaging	Het
Vax2	A	G	6: 83,688,388 (GRCm39)	D37G	probably benign	Het
Vmn1r77	T	A	7: 11,775,665 (GRCm39)	L79*	probably null	Het
Zbtb3	A	T	19: 8,780,564 (GRCm39)	D59V	probably damaging	Het
Zdhhc13	T	C	7: 48,458,602 (GRCm39)	F182S	probably benign	Het
Zfp426	A	G	9: 20,381,593 (GRCm39)	F465L	probably damaging	Het
Zfp526	A	G	7: 24,925,637 (GRCm39)	E632G	probably damaging	Het

Other mutations in Or5b113

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00936:Or5b113	APN	19	13,341,988 (GRCm39)	utr 5 prime	probably benign
IGL01109:Or5b113	APN	19	13,342,063 (GRCm39)	missense	probably benign
IGL01939:Or5b113	APN	19	13,342,807 (GRCm39)	missense	probably benign	0.14
IGL02188:Or5b113	APN	19	13,342,643 (GRCm39)	missense	probably damaging	0.98
IGL02188:Or5b113	APN	19	13,342,396 (GRCm39)	missense	probably benign	0.39
IGL03223:Or5b113	APN	19	13,342,645 (GRCm39)	missense	probably benign
R1066:Or5b113	UTSW	19	13,342,451 (GRCm39)	missense	probably benign
R1189:Or5b113	UTSW	19	13,342,543 (GRCm39)	missense	probably benign	0.03
R1668:Or5b113	UTSW	19	13,342,234 (GRCm39)	missense	probably benign	0.00
R1754:Or5b113	UTSW	19	13,342,717 (GRCm39)	missense	probably damaging	1.00
R1860:Or5b113	UTSW	19	13,342,705 (GRCm39)	missense	possibly damaging	0.80
R1861:Or5b113	UTSW	19	13,342,705 (GRCm39)	missense	possibly damaging	0.80
R2181:Or5b113	UTSW	19	13,342,438 (GRCm39)	missense	probably benign	0.08
R2219:Or5b113	UTSW	19	13,342,901 (GRCm39)	missense	possibly damaging	0.88
R2516:Or5b113	UTSW	19	13,342,557 (GRCm39)	nonsense	probably null
R4757:Or5b113	UTSW	19	13,342,810 (GRCm39)	missense	probably benign	0.23
R5206:Or5b113	UTSW	19	13,342,429 (GRCm39)	missense	possibly damaging	0.91
R5376:Or5b113	UTSW	19	13,342,762 (GRCm39)	missense	possibly damaging	0.95
R5647:Or5b113	UTSW	19	13,342,541 (GRCm39)	missense	probably damaging	1.00
R5724:Or5b113	UTSW	19	13,342,515 (GRCm39)	missense	possibly damaging	0.62
R5741:Or5b113	UTSW	19	13,342,847 (GRCm39)	missense	probably damaging	0.97
R5906:Or5b113	UTSW	19	13,342,369 (GRCm39)	missense	probably damaging	1.00
R6636:Or5b113	UTSW	19	13,342,589 (GRCm39)	missense	probably benign	0.06
R6637:Or5b113	UTSW	19	13,342,589 (GRCm39)	missense	probably benign	0.06
R7000:Or5b113	UTSW	19	13,341,987 (GRCm39)	start gained	probably benign
R7254:Or5b113	UTSW	19	13,342,475 (GRCm39)	missense	probably benign	0.28
R7325:Or5b113	UTSW	19	13,342,001 (GRCm39)	missense	probably benign	0.00
R7773:Or5b113	UTSW	19	13,342,598 (GRCm39)	missense	probably benign	0.07
R7828:Or5b113	UTSW	19	13,342,510 (GRCm39)	missense	probably benign	0.10
R9081:Or5b113	UTSW	19	13,342,019 (GRCm39)	missense	probably benign	0.12
R9135:Or5b113	UTSW	19	13,342,755 (GRCm39)	missense	possibly damaging	0.46
R9151:Or5b113	UTSW	19	13,342,222 (GRCm39)	missense	possibly damaging	0.95
R9470:Or5b113	UTSW	19	13,342,115 (GRCm39)	missense	probably damaging	1.00
R9792:Or5b113	UTSW	19	13,342,514 (GRCm39)	missense	probably damaging	0.99
R9793:Or5b113	UTSW	19	13,342,514 (GRCm39)	missense	probably damaging	0.99
Z1176:Or5b113	UTSW	19	13,342,280 (GRCm39)	missense	probably damaging	1.00
Z1176:Or5b113	UTSW	19	13,342,279 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGATGCTGTGCAAACACATTGTCC -3'
(R):5'- GGCCATTGAGGCCAACAGGTAATTC -3'

Sequencing Primer
(F):5'- GTGCAAACACATTGTCCTTTCG -3'
(R):5'- TCTGAGCAGCACAGTCATTG -3'

Posted On

2013-05-23