Mutagenetix > Incidental Mutation

Incidental Mutation 'R0454:Or5bw2'

39873

Institutional Source

Beutler Lab

Gene Symbol

Or5bw2

Ensembl Gene

ENSMUSG00000056696

Gene Name

olfactory receptor family 5 subfamily BW member 2

Synonyms

GA_x6K02T2QGBW-3300391-3301317, MOR222-3, Olfr1350

MMRRC Submission

038654-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R0454 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6572992-6573918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6573359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 123 (A123V)

Ref Sequence

ENSEMBL: ENSMUSP00000151318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070985] [ENSMUST00000207221] [ENSMUST00000219278]

AlphaFold

Q8VF34

Predicted Effect

probably damaging
Transcript: ENSMUST00000070985
AA Change: A123V

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

SMART Domains

Protein: ENSMUSP00000069927
Gene: ENSMUSG00000056696
AA Change: A123V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	305	1.6e-50	PFAM
Pfam:7tm_1	39	288	8.2e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207221
AA Change: A123V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219278
AA Change: A123V

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447F04Rik	T	C	X: 65,347,274 (GRCm39)	E91G	unknown	Het
Acot1	A	G	12: 84,064,113 (GRCm39)	Q407R	probably benign	Het
Adcy10	T	A	1: 165,398,297 (GRCm39)	Y1465N	probably damaging	Het
Ahsa2	T	A	11: 23,440,702 (GRCm39)	I249F	probably damaging	Het
Arhgap10	T	C	8: 77,977,594 (GRCm39)	N721S	probably damaging	Het
Arrdc4	T	G	7: 68,391,619 (GRCm39)	E216A	probably damaging	Het
Axin1	T	C	17: 26,392,637 (GRCm39)	V306A	probably benign	Het
Cct3	T	C	3: 88,210,173 (GRCm39)		probably null	Het
Cfap58	G	A	19: 47,963,119 (GRCm39)		probably null	Het
Chd9	T	C	8: 91,699,859 (GRCm39)	S49P	possibly damaging	Het
Clcn2	C	A	16: 20,529,178 (GRCm39)		probably null	Het
Col26a1	T	C	5: 136,783,047 (GRCm39)	N286D	probably benign	Het
Cpt1b	T	A	15: 89,308,596 (GRCm39)	I111F	possibly damaging	Het
Cyp4f16	T	A	17: 32,756,061 (GRCm39)	I30N	probably damaging	Het
Ddc	T	G	11: 11,830,587 (GRCm39)	D19A	possibly damaging	Het
Depdc1a	T	A	3: 159,222,537 (GRCm39)		probably null	Het
Evc2	T	A	5: 37,574,828 (GRCm39)	C1028S	possibly damaging	Het
Fam228a	T	C	12: 4,781,457 (GRCm39)	E134G	probably damaging	Het
Fasl	T	C	1: 161,615,523 (GRCm39)	E111G	probably benign	Het
Fbxw10	A	G	11: 62,767,564 (GRCm39)	N800S	possibly damaging	Het
Fras1	T	C	5: 96,910,524 (GRCm39)	S3318P	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gad1	T	A	2: 70,409,545 (GRCm39)	M212K	probably damaging	Het
Gm17455	T	G	10: 60,238,752 (GRCm39)	S6A	probably benign	Het
Grm5	T	C	7: 87,779,997 (GRCm39)	S1146P	probably damaging	Het
Gsn	T	C	2: 35,194,651 (GRCm39)	L649P	probably damaging	Het
H2-DMb1	A	G	17: 34,374,685 (GRCm39)	T112A	probably benign	Het
Hcn3	T	A	3: 89,060,201 (GRCm39)	I148F	probably damaging	Het
Hdac10	T	C	15: 89,009,961 (GRCm39)		probably null	Het
Hk3	C	A	13: 55,156,518 (GRCm39)	D619Y	probably damaging	Het
Ifi44	T	A	3: 151,451,134 (GRCm39)	R272S	possibly damaging	Het
Il1rap	A	C	16: 26,517,625 (GRCm39)	D275A	probably damaging	Het
Irag2	A	G	6: 145,113,710 (GRCm39)	R293G	possibly damaging	Het
Itgam	A	T	7: 127,707,152 (GRCm39)	N660I	probably benign	Het
Itpr3	T	C	17: 27,332,793 (GRCm39)	M1853T	probably benign	Het
Lrrc8c	A	C	5: 105,754,965 (GRCm39)	K247Q	probably damaging	Het
Map3k21	T	C	8: 126,668,858 (GRCm39)	S815P	probably benign	Het
Mast4	A	G	13: 102,888,068 (GRCm39)	S1114P	probably damaging	Het
Myh8	C	T	11: 67,194,591 (GRCm39)	Q1601*	probably null	Het
Nhlrc2	A	G	19: 56,558,959 (GRCm39)	D148G	probably damaging	Het
Nos1	T	A	5: 118,081,385 (GRCm39)	S1196T	probably benign	Het
Nsmaf	C	T	4: 6,424,874 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,890,449 (GRCm39)	D7361G	unknown	Het
Or2t35	T	C	14: 14,407,777 (GRCm38)	V183A	probably damaging	Het
Or52ad1	C	A	7: 102,996,085 (GRCm39)	A17S	probably benign	Het
Pank3	T	G	11: 35,668,536 (GRCm39)	M175R	probably benign	Het
Papolg	A	G	11: 23,829,868 (GRCm39)		probably null	Het
Pcdhb21	G	A	18: 37,647,566 (GRCm39)	D232N	probably damaging	Het
Pcdhb22	T	C	18: 37,651,925 (GRCm39)	F131S	probably damaging	Het
Pik3r6	G	A	11: 68,419,608 (GRCm39)	A140T	possibly damaging	Het
Pinlyp	T	C	7: 24,241,947 (GRCm39)	T87A	possibly damaging	Het
Pld1	T	C	3: 28,178,724 (GRCm39)	S873P	probably damaging	Het
Pld5	T	A	1: 176,102,295 (GRCm39)	Y49F	probably benign	Het
Polq	T	C	16: 36,855,252 (GRCm39)	V449A	probably damaging	Het
Prkca	A	G	11: 107,869,106 (GRCm39)	V69A	probably benign	Het
Ptk6	A	G	2: 180,844,075 (GRCm39)	S75P	possibly damaging	Het
Ptprq	G	A	10: 107,418,391 (GRCm39)	Q1662*	probably null	Het
Ptprt	C	A	2: 161,395,742 (GRCm39)	A1144S	probably damaging	Het
Rrm1	T	A	7: 102,116,133 (GRCm39)	W684R	probably damaging	Het
Ryr1	T	A	7: 28,735,500 (GRCm39)	M4093L	probably damaging	Het
Scnn1a	C	T	6: 125,299,189 (GRCm39)	L90F	probably damaging	Het
Slc25a19	G	T	11: 115,508,423 (GRCm39)	Y188*	probably null	Het
Slc31a1	C	T	4: 62,303,866 (GRCm39)		probably benign	Het
Slc5a11	C	G	7: 122,864,458 (GRCm39)	S351R	possibly damaging	Het
Slc6a17	A	G	3: 107,384,183 (GRCm39)	L387P	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Spam1	T	A	6: 24,797,837 (GRCm39)	L331Q	probably damaging	Het
Spata32	A	G	11: 103,100,125 (GRCm39)	W127R	probably damaging	Het
Spring1	A	G	5: 118,393,886 (GRCm39)	E88G	possibly damaging	Het
Spta1	T	G	1: 174,041,508 (GRCm39)	I1324S	probably damaging	Het
St6galnac4	A	G	2: 32,484,330 (GRCm39)	Y176C	probably damaging	Het
Stk10	A	G	11: 32,546,724 (GRCm39)	E327G	probably damaging	Het
Stxbp5l	T	A	16: 36,954,646 (GRCm39)	Y912F	possibly damaging	Het
Tchp	G	A	5: 114,858,243 (GRCm39)	E459K	probably benign	Het
Terf2	C	T	8: 107,822,842 (GRCm39)	W100*	probably null	Het
Thoc2l	T	G	5: 104,666,077 (GRCm39)	S200A	probably benign	Het
Thrsp	T	C	7: 97,066,634 (GRCm39)	N26S	probably damaging	Het
Tln1	C	A	4: 43,553,504 (GRCm39)	R297L	probably benign	Het
Tmeff2	C	A	1: 50,967,234 (GRCm39)	T43N	possibly damaging	Het
Tmx1	C	T	12: 70,499,947 (GRCm39)	A2V	possibly damaging	Het
Tnks1bp1	T	A	2: 84,902,481 (GRCm39)	L1053Q	probably damaging	Het
Trmt10b	A	T	4: 45,304,286 (GRCm39)	K107N	probably damaging	Het
Trpa1	A	T	1: 14,955,972 (GRCm39)		probably null	Het
Trrap	A	G	5: 144,783,287 (GRCm39)	K3371R	probably damaging	Het
Tuba3b	G	A	6: 145,563,995 (GRCm39)	V14I	probably benign	Het
Usp19	T	C	9: 108,371,439 (GRCm39)		probably null	Het
Usp28	C	A	9: 48,950,401 (GRCm39)	D615E	possibly damaging	Het
Utp20	T	C	10: 88,657,931 (GRCm39)	D43G	probably benign	Het
Vmn1r58	T	G	7: 5,413,997 (GRCm39)	K78Q	possibly damaging	Het
Vmn2r10	T	C	5: 109,151,327 (GRCm39)	M96V	probably benign	Het
Wdr90	T	C	17: 26,079,023 (GRCm39)	E273G	probably damaging	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zscan21	T	C	5: 138,131,865 (GRCm39)	I463T	possibly damaging	Het

Other mutations in Or5bw2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Or5bw2	APN	7	6,573,667 (GRCm39)	missense	possibly damaging	0.88
IGL01387:Or5bw2	APN	7	6,573,854 (GRCm39)	missense	probably damaging	1.00
IGL01457:Or5bw2	APN	7	6,573,211 (GRCm39)	missense	probably benign	0.12
IGL01568:Or5bw2	APN	7	6,573,569 (GRCm39)	missense	possibly damaging	0.91
I2288:Or5bw2	UTSW	7	6,573,818 (GRCm39)	missense	probably damaging	1.00
I2289:Or5bw2	UTSW	7	6,573,818 (GRCm39)	missense	probably damaging	1.00
R0558:Or5bw2	UTSW	7	6,573,652 (GRCm39)	missense	possibly damaging	0.77
R1103:Or5bw2	UTSW	7	6,573,111 (GRCm39)	missense	probably damaging	1.00
R1352:Or5bw2	UTSW	7	6,573,782 (GRCm39)	missense	probably benign	0.11
R1503:Or5bw2	UTSW	7	6,573,470 (GRCm39)	missense	probably damaging	1.00
R1630:Or5bw2	UTSW	7	6,573,673 (GRCm39)	missense	probably damaging	1.00
R1981:Or5bw2	UTSW	7	6,573,557 (GRCm39)	missense	probably benign	0.01
R2228:Or5bw2	UTSW	7	6,573,802 (GRCm39)	missense	probably benign
R2258:Or5bw2	UTSW	7	6,573,022 (GRCm39)	missense	probably damaging	0.98
R2259:Or5bw2	UTSW	7	6,573,022 (GRCm39)	missense	probably damaging	0.98
R2260:Or5bw2	UTSW	7	6,573,022 (GRCm39)	missense	probably damaging	0.98
R4075:Or5bw2	UTSW	7	6,573,142 (GRCm39)	missense	probably benign	0.00
R4750:Or5bw2	UTSW	7	6,573,850 (GRCm39)	missense	probably benign	0.34
R4917:Or5bw2	UTSW	7	6,573,643 (GRCm39)	missense	possibly damaging	0.88
R4918:Or5bw2	UTSW	7	6,573,643 (GRCm39)	missense	possibly damaging	0.88
R5571:Or5bw2	UTSW	7	6,573,824 (GRCm39)	missense	possibly damaging	0.95
R5915:Or5bw2	UTSW	7	6,573,172 (GRCm39)	missense	probably benign	0.31
R6969:Or5bw2	UTSW	7	6,573,320 (GRCm39)	missense	probably damaging	1.00
R7061:Or5bw2	UTSW	7	6,573,782 (GRCm39)	missense	probably damaging	1.00
R7286:Or5bw2	UTSW	7	6,573,715 (GRCm39)	missense	probably damaging	1.00
R7510:Or5bw2	UTSW	7	6,572,960 (GRCm39)	start gained	probably benign
R9475:Or5bw2	UTSW	7	6,573,818 (GRCm39)	missense	probably damaging	1.00
V1662:Or5bw2	UTSW	7	6,573,818 (GRCm39)	missense	probably damaging	1.00
Z1176:Or5bw2	UTSW	7	6,573,047 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCCGAGTTTCCAGAGACACACC -3'
(R):5'- TGTCACCACAAGCTAGATGCATGAG -3'

Sequencing Primer
(F):5'- CATTACAGTTGCTGAGCATGGC -3'
(R):5'- GCTAGATGCATGAGTGGGG -3'

Posted On

2013-05-23