Mutagenetix > Incidental Mutation

Incidental Mutation 'R6378:Or6b2'

515090

Institutional Source

Beutler Lab

Gene Symbol

Or6b2

Ensembl Gene

ENSMUSG00000067064

Gene Name

olfactory receptor family 6 subfamily B member 2

Synonyms

Olfr1416, GA_x6K02T2R7CC-81277975-81278913, MOR103-3

MMRRC Submission

044528-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6378 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92407403-92408341 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92408178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 55 (L55P)

Ref Sequence

ENSEMBL: ENSMUSP00000149576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086837] [ENSMUST00000214928]

AlphaFold

Q8VGU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000086837
AA Change: L55P

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

SMART Domains

Protein: ENSMUSP00000084048
Gene: ENSMUSG00000067064
AA Change: L55P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	5.9e-53	PFAM
Pfam:7tm_1	41	290	6.7e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214928
AA Change: L55P

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

Meta Mutation Damage Score

0.8215

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	A	T	15: 72,995,774 (GRCm39)	D408E	probably benign	Het
Agpat2	T	C	2: 26,486,147 (GRCm39)	N178S	probably benign	Het
Arsi	T	C	18: 61,049,573 (GRCm39)	F152S	probably damaging	Het
Atp13a2	T	A	4: 140,734,367 (GRCm39)	L1163Q	probably benign	Het
Bpifb2	T	A	2: 153,733,072 (GRCm39)	L385Q	possibly damaging	Het
C330018D20Rik	A	G	18: 57,095,579 (GRCm39)	L2P	probably damaging	Het
Cby3	A	G	11: 50,250,360 (GRCm39)	T189A	probably damaging	Het
Cdc42bpa	A	T	1: 179,921,561 (GRCm39)	D567V	possibly damaging	Het
Cdh5	T	A	8: 104,853,168 (GRCm39)		probably null	Het
Cela1	C	T	15: 100,585,071 (GRCm39)	V20I	probably benign	Het
Cmpk2	G	A	12: 26,519,415 (GRCm39)	G22E	possibly damaging	Het
Ctcf	T	A	8: 106,390,423 (GRCm39)	V10E	possibly damaging	Het
Dpp10	C	A	1: 123,339,468 (GRCm39)	C353F	probably damaging	Het
Efcab3	A	G	11: 104,999,620 (GRCm39)	S5546G	possibly damaging	Het
Elp3	G	T	14: 65,830,420 (GRCm39)	Y10*	probably null	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Eml4	T	A	17: 83,755,646 (GRCm39)	W336R	probably damaging	Het
Erich6	T	C	3: 58,529,780 (GRCm39)		probably null	Het
Eya1	T	C	1: 14,373,027 (GRCm39)	N31D	possibly damaging	Het
Fam81a	T	A	9: 70,017,628 (GRCm39)	N106Y	probably damaging	Het
Frrs1	A	G	3: 116,694,639 (GRCm39)	T487A	possibly damaging	Het
Ganc	T	C	2: 120,264,307 (GRCm39)	M420T	probably damaging	Het
Gimap7	A	T	6: 48,701,116 (GRCm39)	E234V	probably damaging	Het
Gpbp1	T	C	13: 111,570,146 (GRCm39)	N400S	probably damaging	Het
Gucy2g	T	C	19: 55,229,377 (GRCm39)	S98G	probably benign	Het
Hoxd10	T	C	2: 74,524,678 (GRCm39)	I330T	possibly damaging	Het
Ik	T	A	18: 36,890,341 (GRCm39)	I539N	probably damaging	Het
Il17rb	G	A	14: 29,722,320 (GRCm39)	T237I	probably damaging	Het
Ing2	T	A	8: 48,122,293 (GRCm39)	Q85L	probably benign	Het
Lrp4	C	A	2: 91,324,174 (GRCm39)	N1208K	probably benign	Het
Lvrn	T	A	18: 47,028,024 (GRCm39)	S888R	probably benign	Het
Map2	T	C	1: 66,454,488 (GRCm39)	V1126A	probably damaging	Het
Mapkapk5	A	G	5: 121,677,233 (GRCm39)		probably null	Het
Mis18bp1	T	C	12: 65,196,021 (GRCm39)	D581G	probably benign	Het
Muc4	T	C	16: 32,599,320 (GRCm39)	V3289A	probably benign	Het
Myom2	T	A	8: 15,149,356 (GRCm39)	I609N	probably benign	Het
Nav1	A	T	1: 135,382,433 (GRCm39)	M1343K	probably damaging	Het
Ndufaf1	T	C	2: 119,486,207 (GRCm39)	I302V	probably damaging	Het
Neb	T	A	2: 52,183,733 (GRCm39)	K978N	probably damaging	Het
Nol8	A	G	13: 49,820,831 (GRCm39)	E878G	probably damaging	Het
Nrde2	A	T	12: 100,097,016 (GRCm39)	I928N	probably damaging	Het
Nxf1	T	A	19: 8,741,910 (GRCm39)	D145E	probably benign	Het
Obox3	T	A	7: 15,360,027 (GRCm39)	H214L	probably benign	Het
Obscn	T	C	11: 58,964,572 (GRCm39)	E3199G	probably damaging	Het
Ogfod3	T	C	11: 121,093,761 (GRCm39)	E83G	probably benign	Het
Or11a4	T	A	17: 37,536,688 (GRCm39)	V224E	probably benign	Het
Or2r3	T	G	6: 42,448,687 (GRCm39)	M142L	probably benign	Het
Or8s8	T	C	15: 98,354,425 (GRCm39)	V78A	probably benign	Het
Pcsk4	G	T	10: 80,164,809 (GRCm39)	H69N	probably benign	Het
Plcl2	C	T	17: 50,975,188 (GRCm39)		probably null	Het
Pmfbp1	T	C	8: 110,256,898 (GRCm39)	I534T	probably damaging	Het
Prss23	A	T	7: 89,159,241 (GRCm39)	I276N	probably damaging	Het
Ramac	A	G	7: 81,417,387 (GRCm39)	Y29C	probably damaging	Het
Rhd	T	A	4: 134,621,696 (GRCm39)	F403Y	possibly damaging	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scg5	A	G	2: 113,657,737 (GRCm39)	V58A	possibly damaging	Het
Scn5a	C	T	9: 119,315,102 (GRCm39)	G1868R	probably damaging	Het
Secisbp2l	A	G	2: 125,610,245 (GRCm39)	S225P	possibly damaging	Het
Sema4f	A	T	6: 82,894,613 (GRCm39)	L486*	probably null	Het
Slc25a47	G	A	12: 108,822,069 (GRCm39)	R286H	probably damaging	Het
Slc5a8	A	C	10: 88,740,916 (GRCm39)	K277T	probably damaging	Het
Slc66a3	T	C	12: 17,047,644 (GRCm39)	Y96C	probably damaging	Het
Sorcs1	T	A	19: 50,213,615 (GRCm39)	E704V	possibly damaging	Het
Sptan1	T	C	2: 29,908,527 (GRCm39)	S1768P	probably damaging	Het
Srd5a2	C	T	17: 74,328,378 (GRCm39)		probably null	Het
Sytl2	A	T	7: 90,007,432 (GRCm39)	K65*	probably null	Het
Tas2r109	T	G	6: 132,957,844 (GRCm39)	I29L	probably benign	Het
Tfap2a	A	T	13: 40,876,717 (GRCm39)	V234E	possibly damaging	Het
Tgfbr3	G	A	5: 107,325,679 (GRCm39)	L128F	probably benign	Het
Trappc12	A	T	12: 28,797,082 (GRCm39)	L150Q	probably damaging	Het
Trim43b	T	A	9: 88,967,452 (GRCm39)	I395L	probably benign	Het
U2surp	C	T	9: 95,373,474 (GRCm39)	E232K	probably benign	Het
Vax1	T	C	19: 59,154,656 (GRCm39)	N327S	probably benign	Het
Vmn1r14	T	C	6: 57,210,587 (GRCm39)	V11A	probably benign	Het
Vmn1r60	A	G	7: 5,547,782 (GRCm39)	V106A	probably damaging	Het
Vmn2r106	T	C	17: 20,498,667 (GRCm39)	S415G	probably benign	Het
Vmn2r3	C	T	3: 64,182,517 (GRCm39)	G394D	probably damaging	Het
Ybx2	A	G	11: 69,831,179 (GRCm39)	E63G	possibly damaging	Het
Zfhx4	T	A	3: 5,308,410 (GRCm39)	N545K	probably benign	Het
Zp1	T	C	19: 10,892,217 (GRCm39)	T56A	probably benign	Het

Other mutations in Or6b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Or6b2	APN	1	92,407,746 (GRCm39)	missense	probably damaging	0.99
IGL00980:Or6b2	APN	1	92,407,402 (GRCm39)	splice site	probably null
IGL01540:Or6b2	APN	1	92,408,202 (GRCm39)	missense	probably damaging	0.96
BB007:Or6b2	UTSW	1	92,407,570 (GRCm39)	missense	probably benign	0.01
BB017:Or6b2	UTSW	1	92,407,570 (GRCm39)	missense	probably benign	0.01
R1146:Or6b2	UTSW	1	92,407,612 (GRCm39)	missense	probably damaging	1.00
R1146:Or6b2	UTSW	1	92,407,612 (GRCm39)	missense	probably damaging	1.00
R4751:Or6b2	UTSW	1	92,407,705 (GRCm39)	missense	probably benign	0.01
R5207:Or6b2	UTSW	1	92,407,594 (GRCm39)	missense	probably benign
R5287:Or6b2	UTSW	1	92,408,019 (GRCm39)	missense	possibly damaging	0.88
R5403:Or6b2	UTSW	1	92,408,019 (GRCm39)	missense	possibly damaging	0.88
R6074:Or6b2	UTSW	1	92,407,497 (GRCm39)	missense	probably benign	0.45
R6232:Or6b2	UTSW	1	92,408,305 (GRCm39)	missense	probably benign	0.00
R6355:Or6b2	UTSW	1	92,407,702 (GRCm39)	missense	probably benign	0.21
R6901:Or6b2	UTSW	1	92,408,327 (GRCm39)	missense	probably damaging	1.00
R7930:Or6b2	UTSW	1	92,407,570 (GRCm39)	missense	probably benign	0.01
R8280:Or6b2	UTSW	1	92,407,729 (GRCm39)	missense	noncoding transcript
R8351:Or6b2	UTSW	1	92,407,660 (GRCm39)	missense	probably benign	0.09
R8437:Or6b2	UTSW	1	92,408,187 (GRCm39)	missense	probably benign	0.00
R8451:Or6b2	UTSW	1	92,407,660 (GRCm39)	missense	probably benign	0.09
X0065:Or6b2	UTSW	1	92,407,484 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATAGCGGTCATAGGCCATG -3'
(R):5'- GGCCTCTTGATCTTTTGCAG -3'

Sequencing Primer
(F):5'- CGGTCATAGGCCATGGAAGC -3'
(R):5'- GCAGGTGCACAGGGATG -3'

Posted On

2018-05-04