Mutagenetix > Incidental Mutation

Incidental Mutation 'R5583:Or2h1b'

438594

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

043137-MU

Accession Numbers

Essential gene?

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

Stock #

R5583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37461923-37462861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37462485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 126 (Q126R)

Ref Sequence

ENSEMBL: ENSMUSP00000151672 (fasta)

Gene Model

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

AlphaFold

Q6UAH1

Predicted Effect

probably benign
Transcript: ENSMUST00000171679
AA Change: Q126R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000125907
Gene: ENSMUSG00000091601
AA Change: Q126R

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 benign
Transcript: ENSMUST00000208003

Predicted Effect

probably benign
Transcript: ENSMUST00000219235
AA Change: Q126R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.1036

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,793,083 (GRCm39)	L8Q	probably damaging	Het
Abca4	T	C	3: 121,942,550 (GRCm39)	V1681A	probably damaging	Het
Abce1	G	T	8: 80,416,922 (GRCm39)	A363E	probably benign	Het
Adgrl2	T	C	3: 148,564,800 (GRCm39)	Y256C	probably damaging	Het
Afm	T	C	5: 90,695,740 (GRCm39)	C416R	probably damaging	Het
Ahnak	T	A	19: 8,984,281 (GRCm39)	V1855D	probably damaging	Het
Alb	A	T	5: 90,616,452 (GRCm39)	H319L	probably benign	Het
Ankrd35	G	T	3: 96,592,219 (GRCm39)	R835L	probably damaging	Het
Atg2b	T	C	12: 105,615,414 (GRCm39)	D1014G	possibly damaging	Het
Cdk6	T	A	5: 3,394,436 (GRCm39)	Y24N	probably damaging	Het
Chd7	T	A	4: 8,752,473 (GRCm39)	N323K	probably damaging	Het
Cops9	A	T	1: 92,567,489 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,879,506 (GRCm39)	T561A	probably benign	Het
Dcdc5	T	C	2: 106,195,778 (GRCm39)		noncoding transcript	Het
Dnah7b	G	T	1: 46,281,359 (GRCm39)	A2807S	probably benign	Het
Fam149b	A	G	14: 20,413,368 (GRCm39)	T196A	possibly damaging	Het
Fam217a	C	A	13: 35,094,280 (GRCm39)	C402F	probably damaging	Het
Fat2	A	T	11: 55,144,715 (GRCm39)	V4053E	probably benign	Het
Fcgbp	T	C	7: 27,791,004 (GRCm39)	V755A	probably damaging	Het
Fxr1	C	A	3: 34,123,125 (GRCm39)	S641R	probably benign	Het
Gata5	A	T	2: 179,976,047 (GRCm39)	M39K	probably benign	Het
Gon4l	T	A	3: 88,807,278 (GRCm39)	D1658E	probably damaging	Het
Gpr180	C	T	14: 118,400,110 (GRCm39)	T426M	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Helq	T	C	5: 100,910,459 (GRCm39)	E1039G	probably damaging	Het
Hibch	T	A	1: 52,940,406 (GRCm39)	Y192N	probably damaging	Het
Hp1bp3	A	G	4: 137,949,426 (GRCm39)	I41M	probably damaging	Het
Itpripl2	G	T	7: 118,089,101 (GRCm39)	P486Q	probably benign	Het
Kcnj6	T	C	16: 94,634,060 (GRCm39)	D17G	probably benign	Het
Kprp	T	A	3: 92,731,643 (GRCm39)	Y469F	unknown	Het
Kremen2	T	C	17: 23,961,229 (GRCm39)	T373A	probably benign	Het
Lgi4	A	G	7: 30,760,562 (GRCm39)	Y39C	possibly damaging	Het
Lgr5	T	C	10: 115,314,409 (GRCm39)	D176G	probably benign	Het
Lrp1	T	C	10: 127,424,332 (GRCm39)	S785G	probably benign	Het
Ltbp1	A	T	17: 75,598,325 (GRCm39)	Q920L	probably benign	Het
Map2	A	G	1: 66,455,196 (GRCm39)	E1362G	probably damaging	Het
Nkx2-6	T	C	14: 69,409,272 (GRCm39)	S8P	probably damaging	Het
Pde4dip	C	T	3: 97,654,892 (GRCm39)	R888Q	possibly damaging	Het
Per1	A	G	11: 68,994,271 (GRCm39)	H494R	probably damaging	Het
Pira2	A	G	7: 3,845,545 (GRCm39)	F280L	probably benign	Het
Plekhm3	C	T	1: 64,977,145 (GRCm39)	W108*	probably null	Het
Ptcd3	A	G	6: 71,879,920 (GRCm39)	S113P	probably damaging	Het
Scarf1	T	C	11: 75,404,842 (GRCm39)	L42P	possibly damaging	Het
Scart2	G	A	7: 139,876,739 (GRCm39)	C710Y	probably damaging	Het
Skint1	A	C	4: 111,876,253 (GRCm39)	Q58P	probably damaging	Het
Spata7	A	T	12: 98,635,590 (GRCm39)	N438I	probably damaging	Het
Spdya	C	A	17: 71,876,126 (GRCm39)	D164E	probably damaging	Het
Speer3	G	A	5: 13,844,782 (GRCm39)		probably null	Het
Ssc4d	A	T	5: 135,999,050 (GRCm39)	L51H	probably damaging	Het
Steap1	A	G	5: 5,790,579 (GRCm39)	I123T	possibly damaging	Het
Styx	T	A	14: 45,608,483 (GRCm39)	F147I	possibly damaging	Het
Suv39h2	T	A	2: 3,475,890 (GRCm39)		probably benign	Het
Tfb2m	A	G	1: 179,373,446 (GRCm39)	V84A	probably benign	Het
Tlcd1	T	G	11: 78,069,762 (GRCm39)	V25G	probably benign	Het
Tmem79	T	C	3: 88,239,870 (GRCm39)	Y280C	probably damaging	Het
Trim5	T	A	7: 103,926,042 (GRCm39)	N173I	probably damaging	Het
Ttc17	A	T	2: 94,208,027 (GRCm39)	D194E	probably damaging	Het
Zfp2	T	C	11: 50,790,984 (GRCm39)	E353G	possibly 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
R3419:Or2h1b	UTSW	17	37,462,242 (GRCm39)	missense	probably damaging	0.99
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
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'- CCCCACAAGAGAGTCGGATTAG -3'
(R):5'- AGGCTCCACTCTCCAATGTAC -3'

Sequencing Primer
(F):5'- TCGGATTAGAGATGGGACTTCACAC -3'
(R):5'- AACCTCTCCTTCTTGGACCTCTG -3'

Posted On

2016-10-26