Mutagenetix > Incidental Mutation

Incidental Mutation 'R9114:Or51b4'

692415

Institutional Source

Beutler Lab

Gene Symbol

Or51b4

Ensembl Gene

ENSMUSG00000058200

Gene Name

olfactory receptor family 51 subfamily B member 4

Synonyms

GA_x6K02T2PBJ9-6620959-6620024, 5'[b]1, Olfr66, MOR1-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R9114 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103530513-103531448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103530569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 294 (T294A)

Ref Sequence

ENSEMBL: ENSMUSP00000149058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079117] [ENSMUST00000216303]

AlphaFold

F8VQ01

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079117
AA Change: T294A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078119
Gene: ENSMUSG00000058200
AA Change: T294A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	3.9e-113	PFAM
Pfam:7TM_GPCR_Srsx	32	300	9.7e-7	PFAM
Pfam:7tm_1	39	290	8.4e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216303
AA Change: T294A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,788,702 (GRCm39)	L1027*	probably null	Het
Actl11	T	A	9: 107,808,509 (GRCm39)	M944K	possibly damaging	Het
Afap1l2	T	C	19: 56,906,427 (GRCm39)	K491E	probably damaging	Het
Ahr	A	T	12: 35,561,164 (GRCm39)	D150E	probably damaging	Het
Arhgef1	T	A	7: 24,607,304 (GRCm39)	L17Q	probably damaging	Het
Bysl	A	G	17: 47,915,242 (GRCm39)	S169P		Het
C4b	A	T	17: 34,948,404 (GRCm39)	F1610I	probably damaging	Het
Chtf8	C	A	8: 107,612,481 (GRCm39)	A153S	probably benign	Het
Ciapin1	C	T	8: 95,558,400 (GRCm39)		probably null	Het
Cnnm1	A	G	19: 43,429,395 (GRCm39)	E171G	possibly damaging	Het
Crybb3	T	C	5: 113,225,407 (GRCm39)	N155S	probably benign	Het
Dclk3	T	A	9: 111,317,683 (GRCm39)	M773K	probably benign	Het
Ddx18	A	T	1: 121,489,267 (GRCm39)	V260D	probably damaging	Het
Dmxl2	T	A	9: 54,307,321 (GRCm39)	N2216Y		Het
Epn2	T	C	11: 61,437,446 (GRCm39)	E42G	probably damaging	Het
Esrrg	C	A	1: 187,878,605 (GRCm39)	P229T	probably benign	Het
Esrrg	C	A	1: 187,878,606 (GRCm39)	P229Q	possibly damaging	Het
Ethe1	G	T	7: 24,305,643 (GRCm39)	R130L	probably benign	Het
Fgl2	G	A	5: 21,580,363 (GRCm39)	C235Y	probably damaging	Het
Fmnl1	C	T	11: 103,087,327 (GRCm39)	T890M	unknown	Het
Fsip2	C	G	2: 82,807,301 (GRCm39)	P1207A	probably benign	Het
Gc	C	T	5: 89,593,165 (GRCm39)	D85N	possibly damaging	Het
Gfi1	G	A	5: 107,869,370 (GRCm39)	R287W	probably damaging	Het
Gm3629	T	C	14: 17,834,566 (GRCm39)		probably null	Het
Hapln3	A	G	7: 78,771,712 (GRCm39)	F59S	probably benign	Het
Il24	G	A	1: 130,813,483 (GRCm39)	T38I	possibly damaging	Het
Izumo1	A	G	7: 45,276,583 (GRCm39)	D382G	probably benign	Het
Kdm5a	T	A	6: 120,382,887 (GRCm39)	Y739*	probably null	Het
Kif2b	T	A	11: 91,466,538 (GRCm39)	I582F	possibly damaging	Het
Klhdc1	A	G	12: 69,288,783 (GRCm39)	Y31C	probably damaging	Het
Lama1	G	A	17: 68,128,669 (GRCm39)	E3009K		Het
Mad2l1bp	G	A	17: 46,458,958 (GRCm39)	R191C	probably damaging	Het
Mark1	A	C	1: 184,644,261 (GRCm39)	S468A	probably damaging	Het
Mknk2	T	A	10: 80,504,823 (GRCm39)	N236Y	probably damaging	Het
Muc2	T	A	7: 141,287,983 (GRCm39)	C251*	probably null	Het
Nacad	T	C	11: 6,552,252 (GRCm39)	D313G	probably damaging	Het
Neb	G	T	2: 52,099,599 (GRCm39)	D4750E	probably benign	Het
Nlrp6	T	C	7: 140,506,332 (GRCm39)	S758P	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or13a28	A	C	7: 140,218,282 (GRCm39)	I223L	probably benign	Het
Or8b3b	A	G	9: 38,583,892 (GRCm39)	F283L	probably benign	Het
Oxtr	A	G	6: 112,466,481 (GRCm39)	V93A	probably damaging	Het
Pbx3	C	A	2: 34,103,271 (GRCm39)	D234Y	probably damaging	Het
Pde4b	A	T	4: 102,459,826 (GRCm39)	T554S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pid1	A	T	1: 84,015,955 (GRCm39)	Y151N	probably damaging	Het
Plcd4	A	G	1: 74,591,307 (GRCm39)	E234G	possibly damaging	Het
Pou6f1	A	G	15: 100,478,789 (GRCm39)	V373A	probably benign	Het
Ppp1r12c	T	C	7: 4,485,792 (GRCm39)	K685E	possibly damaging	Het
Rnf34	T	A	5: 122,999,957 (GRCm39)	V71D	probably damaging	Het
Rpap2	T	G	5: 107,746,156 (GRCm39)	H11Q	possibly damaging	Het
Skint2	A	G	4: 112,496,834 (GRCm39)	T247A	probably benign	Het
Stat5b	T	A	11: 100,692,350 (GRCm39)	N145Y	probably damaging	Het
Sv2b	A	G	7: 74,856,017 (GRCm39)	L91P	probably damaging	Het
Syt1	A	G	10: 108,340,376 (GRCm39)	I314T	probably damaging	Het
Tlk1	A	T	2: 70,572,502 (GRCm39)	N355K	probably benign	Het
Tnc	C	A	4: 63,890,973 (GRCm39)	M1636I	probably benign	Het
Trank1	C	A	9: 111,162,843 (GRCm39)	A34D	probably damaging	Het
Unc13c	A	G	9: 73,719,665 (GRCm39)	I1001T	probably benign	Het
Vdr	T	C	15: 97,765,136 (GRCm39)	D201G	probably benign	Het
Vmn2r115	A	T	17: 23,564,307 (GRCm39)	I160L	probably benign	Het
Wdr81	C	A	11: 75,335,250 (GRCm39)	R1772L	probably damaging	Het
Zfp457	T	C	13: 67,442,068 (GRCm39)	D169G	probably benign	Het

Other mutations in Or51b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02342:Or51b4	APN	7	103,530,587 (GRCm39)	missense	probably benign	0.16
IGL02935:Or51b4	APN	7	103,530,871 (GRCm39)	missense	probably damaging	1.00
IGL03033:Or51b4	APN	7	103,530,724 (GRCm39)	missense	probably damaging	1.00
IGL03105:Or51b4	APN	7	103,531,339 (GRCm39)	missense	possibly damaging	0.55
R1081:Or51b4	UTSW	7	103,531,384 (GRCm39)	missense	possibly damaging	0.87
R1780:Or51b4	UTSW	7	103,530,799 (GRCm39)	missense	probably benign	0.00
R4470:Or51b4	UTSW	7	103,530,956 (GRCm39)	missense	probably benign	0.02
R4724:Or51b4	UTSW	7	103,530,856 (GRCm39)	missense	probably benign	0.02
R5463:Or51b4	UTSW	7	103,530,541 (GRCm39)	missense	probably benign
R5498:Or51b4	UTSW	7	103,530,839 (GRCm39)	missense	probably damaging	0.97
R5987:Or51b4	UTSW	7	103,530,907 (GRCm39)	missense	probably damaging	0.99
R6054:Or51b4	UTSW	7	103,531,033 (GRCm39)	missense	probably damaging	0.98
R7815:Or51b4	UTSW	7	103,530,992 (GRCm39)	missense	probably benign	0.16
R8026:Or51b4	UTSW	7	103,530,904 (GRCm39)	missense	possibly damaging	0.96
R9570:Or51b4	UTSW	7	103,530,856 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGGTTTAGCTTTCCTCATTGTGTAA -3'
(R):5'- TGAAGACAGTTATGGGCATTGC -3'

Sequencing Primer
(F):5'- GTTTCTAATAAAGGGCCAGA -3'
(R):5'- GGCATTGCCTCTGGAGAG -3'

Posted On

2021-12-30