Mutagenetix > Incidental Mutation

Incidental Mutation 'R3419:Or2h1b'

266990

Institutional Source

Beutler Lab

Gene Symbol

Or2h1b

Ensembl Gene

ENSMUSG00000091601

Gene Name

olfactory receptor family 2 subfamily H member 1B

Synonyms

MOR256-39P, GA_x6K02T2PSCP-1592036-1591098, Olfr93

MMRRC Submission

040637-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R3419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37461923-37462861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37462242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 53 (V53E)

Ref Sequence

ENSEMBL: ENSMUSP00000146548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171679] [ENSMUST00000208003] [ENSMUST00000219235]

AlphaFold

Q6UAH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000171679
AA Change: V207E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125907
Gene: ENSMUSG00000091601
AA Change: V207E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	5.7e-50	PFAM
Pfam:7tm_1	39	288	3.3e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000208003
AA Change: V53E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219235
AA Change: V207E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	G	6: 133,271,082 (GRCm39)	Q42R	probably benign	Het
Ankrd26	A	G	6: 118,512,068 (GRCm39)	L518P	probably damaging	Het
Armc9	T	C	1: 86,122,060 (GRCm39)	L395P	probably damaging	Het
Baz1a	T	C	12: 54,993,684 (GRCm39)	K181E	probably benign	Het
Bend3	T	C	10: 43,385,978 (GRCm39)	S124P	probably damaging	Het
Cdh5	C	T	8: 104,856,002 (GRCm39)	R312C	probably damaging	Het
Col6a3	T	C	1: 90,731,813 (GRCm39)	D873G	probably benign	Het
Dmbx1	G	C	4: 115,777,873 (GRCm39)	R64G	probably benign	Het
Dpy19l2	T	C	9: 24,492,501 (GRCm39)	E699G	probably damaging	Het
Dync2i1	C	T	12: 116,188,597 (GRCm39)	V666I	probably benign	Het
Eef2k	T	A	7: 120,485,093 (GRCm39)	M320K	probably damaging	Het
Exoc5	A	T	14: 49,260,735 (GRCm39)	N377K	probably damaging	Het
Fam20c	A	T	5: 138,743,623 (GRCm39)	N220Y	probably damaging	Het
Fchsd2	T	A	7: 100,927,867 (GRCm39)		probably null	Het
Flrt2	A	G	12: 95,747,378 (GRCm39)	Y572C	probably damaging	Het
Gm17093	A	G	14: 44,759,047 (GRCm39)	I190V	unknown	Het
Gsto1	T	C	19: 47,846,344 (GRCm39)	F64L	probably benign	Het
Gucy1a1	A	G	3: 82,013,440 (GRCm39)	S401P	probably damaging	Het
Hoxd10	A	G	2: 74,522,921 (GRCm39)	K200E	probably benign	Het
Kcnj13	T	C	1: 87,314,641 (GRCm39)	T194A	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lacc1	T	G	14: 77,272,321 (GRCm39)	E158D	probably benign	Het
Lyn	A	T	4: 3,746,833 (GRCm39)	I204F	probably damaging	Het
Mapk6	T	C	9: 75,305,039 (GRCm39)	E126G	probably damaging	Het
Mbd6	C	G	10: 127,122,372 (GRCm39)	R152P	probably null	Het
Or52e15	A	G	7: 104,645,727 (GRCm39)	I128T	probably damaging	Het
Or8g17	C	T	9: 38,930,372 (GRCm39)	C155Y	probably benign	Het
P2ry1	T	C	3: 60,911,133 (GRCm39)	F91L	probably damaging	Het
Paqr3	A	G	5: 97,247,559 (GRCm39)	L183P	probably damaging	Het
Pcdh15	C	A	10: 74,420,054 (GRCm39)	D1166E	probably benign	Het
Pik3r1	T	C	13: 101,828,723 (GRCm39)	D25G	probably benign	Het
Poc5	A	T	13: 96,540,925 (GRCm39)	T365S	possibly damaging	Het
Polr3a	A	G	14: 24,517,103 (GRCm39)	L716P	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,413 (GRCm39)	D500E	probably benign	Het
Ptcd3	A	T	6: 71,860,470 (GRCm39)	I579K	possibly damaging	Het
Rnf168	A	G	16: 32,118,010 (GRCm39)	N524D	probably benign	Het
Scn7a	AT	ATT	2: 66,531,239 (GRCm39)		probably null	Het
Sel1l	A	G	12: 91,776,776 (GRCm39)	W689R	probably damaging	Het
Serpinb13	T	C	1: 106,926,657 (GRCm39)	S218P	probably damaging	Het
Serpini1	A	G	3: 75,547,589 (GRCm39)	Y367C	probably damaging	Het
Snrnp48	G	A	13: 38,405,335 (GRCm39)	D248N	possibly damaging	Het
St6galnac4	A	G	2: 32,485,743 (GRCm39)	T217A	probably damaging	Het
Tdrd1	T	A	19: 56,819,663 (GRCm39)	N54K	possibly damaging	Het
Tmem30c	A	G	16: 57,098,031 (GRCm39)	V130A	probably benign	Het
Trpa1	T	C	1: 14,944,605 (GRCm39)	I1046M	probably benign	Het
Tulp2	T	A	7: 45,168,176 (GRCm39)	M196K	possibly damaging	Het
Unc5b	G	A	10: 60,614,593 (GRCm39)	R235W	probably damaging	Het
Vmn1r175	A	T	7: 23,508,075 (GRCm39)	M184K	probably damaging	Het
Vmn2r2	A	T	3: 64,024,320 (GRCm39)	F754I	probably benign	Het
Vmn2r9	A	C	5: 108,994,299 (GRCm39)	M450R	probably damaging	Het

Other mutations in Or2h1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Or2h1b	APN	17	37,462,332 (GRCm39)	missense	probably damaging	1.00
IGL02369:Or2h1b	APN	17	37,462,665 (GRCm39)	missense	probably damaging	1.00
IGL02392:Or2h1b	APN	17	37,461,979 (GRCm39)	missense	probably benign	0.03
IGL02516:Or2h1b	APN	17	37,462,163 (GRCm39)	missense	possibly damaging	0.95
IGL03089:Or2h1b	APN	17	37,462,534 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Or2h1b	UTSW	17	37,462,270 (GRCm39)	missense	probably benign
R0396:Or2h1b	UTSW	17	37,462,446 (GRCm39)	missense	probably damaging	1.00
R2276:Or2h1b	UTSW	17	37,462,145 (GRCm39)	nonsense	probably null
R2278:Or2h1b	UTSW	17	37,462,145 (GRCm39)	nonsense	probably null
R4254:Or2h1b	UTSW	17	37,462,530 (GRCm39)	missense	possibly damaging	0.90
R4353:Or2h1b	UTSW	17	37,462,228 (GRCm39)	missense	probably damaging	1.00
R4530:Or2h1b	UTSW	17	37,462,498 (GRCm39)	missense	possibly damaging	0.84
R4666:Or2h1b	UTSW	17	37,462,270 (GRCm39)	missense	possibly damaging	0.61
R5583:Or2h1b	UTSW	17	37,462,485 (GRCm39)	missense	probably benign	0.00
R5834:Or2h1b	UTSW	17	37,462,690 (GRCm39)	missense	probably damaging	1.00
R6348:Or2h1b	UTSW	17	37,462,497 (GRCm39)	missense	probably damaging	0.96
R6461:Or2h1b	UTSW	17	37,462,362 (GRCm39)	missense	probably damaging	1.00
R6788:Or2h1b	UTSW	17	37,462,713 (GRCm39)	missense	probably damaging	0.98
R7969:Or2h1b	UTSW	17	37,462,077 (GRCm39)	missense	possibly damaging	0.95
R8374:Or2h1b	UTSW	17	37,462,636 (GRCm39)	missense	probably damaging	0.97
R9126:Or2h1b	UTSW	17	37,462,123 (GRCm39)	missense	possibly damaging	0.90
R9298:Or2h1b	UTSW	17	37,462,572 (GRCm39)	missense	probably damaging	1.00
Z1177:Or2h1b	UTSW	17	37,462,716 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTTCTCTCTTGGGCATAGG -3'
(R):5'- TTGACCGCTATGTGGCTGTC -3'

Sequencing Primer
(F):5'- GGATTTTTGGGCTGCAGATAGACAG -3'
(R):5'- CCTGGGCTATAGGTTTGGTCCAATC -3'

Posted On

2015-02-18