Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4515001:Or2h1b'

556352

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

PIT4515001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37461923-37462861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 37462270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 198 (S198A)

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: S198A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125907
Gene: ENSMUSG00000091601
AA Change: S198A

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
AA Change: S44A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000219235
AA Change: S198A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 86.0%
20x: 75.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,068 (GRCm39)	R966*	probably null	Het
Adam32	A	T	8: 25,404,342 (GRCm39)	I221K	possibly damaging	Het
Adcy6	T	C	15: 98,493,027 (GRCm39)	T880A	probably benign	Het
Agpat5	T	A	8: 18,896,657 (GRCm39)	Y28N	probably damaging	Het
Atg2a	A	G	19: 6,303,615 (GRCm39)	I1125V	probably damaging	Het
B4galt6	A	G	18: 20,821,524 (GRCm39)	Y335H	probably benign	Het
Bend3	A	T	10: 43,386,630 (GRCm39)	E341V	probably damaging	Het
Bltp1	T	A	3: 37,028,385 (GRCm39)	Y2351N	probably damaging	Het
Ccdc136	T	A	6: 29,417,225 (GRCm39)	V682E	probably benign	Het
Ccdc142	T	C	6: 83,080,238 (GRCm39)	C394R	probably benign	Het
Cfap58	A	G	19: 48,023,122 (GRCm39)	N845D	probably benign	Het
Col4a3	G	A	1: 82,660,024 (GRCm39)	G890R	unknown	Het
Cyp1a2	C	A	9: 57,589,242 (GRCm39)	V191L	probably benign	Het
Cyp51	A	T	5: 4,149,122 (GRCm39)		probably null	Het
Diras2	T	C	13: 52,661,783 (GRCm39)	S175G	possibly damaging	Het
Dnah6	A	G	6: 73,091,565 (GRCm39)	F2242S	probably damaging	Het
Erg	T	A	16: 95,210,619 (GRCm39)	N78Y	probably benign	Het
Fdft1	T	A	14: 63,402,032 (GRCm39)	Q49L	probably benign	Het
Frem1	G	T	4: 82,818,663 (GRCm39)	H2183Q	probably damaging	Het
Fut2	G	A	7: 45,299,890 (GRCm39)	T294I	probably damaging	Het
Gabrb1	A	C	5: 71,858,160 (GRCm39)	D62A	probably damaging	Het
Gbe1	T	A	16: 70,238,004 (GRCm39)	Y263*	probably null	Het
Gimap6	T	C	6: 48,679,502 (GRCm39)	D178G	probably benign	Het
Gss	T	A	2: 155,420,261 (GRCm39)	T147S	probably damaging	Het
Hlcs	A	T	16: 94,068,275 (GRCm39)	V315E	probably benign	Het
Hoxa3	C	T	6: 52,147,164 (GRCm39)	G363E	unknown	Het
Ift140	A	G	17: 25,305,834 (GRCm39)	N807S	probably damaging	Het
Iglc1	T	G	16: 18,880,701 (GRCm39)	D40A		Het
Itga10	T	A	3: 96,569,948 (GRCm39)	I1120N	probably damaging	Het
Jak3	T	C	8: 72,132,286 (GRCm39)	V217A	probably benign	Het
Kank2	T	G	9: 21,706,179 (GRCm39)	I280L	probably benign	Het
Kcnk1	G	T	8: 126,752,081 (GRCm39)	G229V	probably damaging	Het
Kpna7	T	C	5: 144,941,862 (GRCm39)	T143A	probably benign	Het
Letmd1	C	T	15: 100,374,683 (GRCm39)	R310C	probably damaging	Het
Mga	G	A	2: 119,746,985 (GRCm39)	V379I	probably damaging	Het
Mto1	T	A	9: 78,364,699 (GRCm39)	Y313N	probably damaging	Het
Muc5ac	G	A	7: 141,361,153 (GRCm39)	C1488Y	probably damaging	Het
Nde1	T	A	16: 13,988,357 (GRCm39)		probably null	Het
Nfatc3	T	C	8: 106,805,835 (GRCm39)	S235P	possibly damaging	Het
Nup88	T	C	11: 70,835,547 (GRCm39)	D602G	probably benign	Het
Or11g25	T	A	14: 50,723,536 (GRCm39)	M207K	probably benign	Het
Pcnx1	G	A	12: 82,038,561 (GRCm39)	C1309Y		Het
Phldb1	A	G	9: 44,627,257 (GRCm39)	I396T	probably benign	Het
Pramel38	T	C	5: 94,368,831 (GRCm39)	M442T	probably benign	Het
Pramel41	A	C	5: 94,594,694 (GRCm39)	K185Q	probably benign	Het
Prss53	G	A	7: 127,487,963 (GRCm39)	T173I	probably benign	Het
Ptpn11	C	A	5: 121,302,617 (GRCm39)	D156Y	probably damaging	Het
Rfx8	A	G	1: 39,729,265 (GRCm39)	Y167H	probably benign	Het
Rpsa	T	A	9: 119,960,214 (GRCm39)	I259N	probably benign	Het
Rrm2b	G	T	15: 37,947,048 (GRCm39)	D84E	probably benign	Het
Scgb2b19	A	T	7: 32,979,036 (GRCm39)		probably null	Het
Sik3	T	C	9: 46,120,029 (GRCm39)	L706P	probably damaging	Het
Slc4a4	A	T	5: 89,281,112 (GRCm39)	E426D	probably damaging	Het
Slc8a2	C	A	7: 15,874,504 (GRCm39)	L251I	possibly damaging	Het
Taf6	T	C	5: 138,180,504 (GRCm39)	K287E	probably benign	Het
Tiam1	G	A	16: 89,657,130 (GRCm39)	T702I	probably damaging	Het
Tle1	A	T	4: 72,117,556 (GRCm39)	F35I	possibly damaging	Het
Tle2	A	G	10: 81,422,964 (GRCm39)	Q454R	possibly damaging	Het
Tsc2	T	C	17: 24,840,121 (GRCm39)	N425S	probably benign	Het
Utp3	A	G	5: 88,702,564 (GRCm39)	D31G	probably benign	Het
Vmn1r173	A	T	7: 23,401,911 (GRCm39)	R49*	probably null	Het
Ybx2	T	A	11: 69,831,224 (GRCm39)	V273E	probably benign	Het
Zbtb22	G	A	17: 34,137,672 (GRCm39)	A606T	probably benign	Het
Zcchc8	A	T	5: 123,838,995 (GRCm39)	D514E	probably benign	Het
Zfy2	T	A	Y: 2,117,096 (GRCm39)	I244F	probably benign	Het
Zglp1	T	C	9: 20,977,485 (GRCm39)	N110S	probably benign	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
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
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'- ATAGACAGCAATGACTGAGCTG -3'
(R):5'- TTGACCGCTATGTGGCTGTC -3'

Sequencing Primer
(F):5'- CAGCAATGACTGAGCTGTAAAAG -3'
(R):5'- CGCCTATGTCGCCAGTTG -3'

Posted On

2019-06-07