Mutagenetix > Incidental Mutation

Incidental Mutation 'R4686:Or8b48'

353679

Institutional Source

Beutler Lab

Gene Symbol

Or8b48

Ensembl Gene

ENSMUSG00000111448

Gene Name

olfactory receptor family 8 subfamily B member 48

Synonyms

MOR165-4, GA_x6K02T2PVTD-32283590-32284522, Olfr912

MMRRC Submission

041937-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R4686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38491540-38493507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38493327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 251 (F251L)

Ref Sequence

ENSEMBL: ENSMUSP00000150014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071681] [ENSMUST00000217160]

AlphaFold

A0A1L1SSS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000071681
AA Change: F251L

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

SMART Domains

Protein: ENSMUSP00000071604
Gene: ENSMUSG00000049926
AA Change: F251L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	9.8e-51	PFAM
Pfam:7tm_1	41	290	1.3e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217160
AA Change: F251L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (68/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,983,837 (GRCm39)	N411S	probably damaging	Het
Adnp	A	C	2: 168,024,309 (GRCm39)	C995W	possibly damaging	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Ano2	T	G	6: 125,767,254 (GRCm39)	I228M	probably benign	Het
Arhgap21	T	C	2: 20,868,033 (GRCm39)	D830G	probably damaging	Het
Atp13a2	G	A	4: 140,730,587 (GRCm39)		probably null	Het
Ccdc175	C	T	12: 72,159,052 (GRCm39)	S629N	probably damaging	Het
Cdhr4	T	C	9: 107,872,883 (GRCm39)	W311R	probably benign	Het
Chaf1b	A	G	16: 93,681,472 (GRCm39)	H30R	probably benign	Het
Clnk	G	A	5: 38,899,180 (GRCm39)		probably benign	Het
Copb1	A	G	7: 113,820,971 (GRCm39)	S773P	possibly damaging	Het
Cse1l	A	G	2: 166,774,080 (GRCm39)	D198G	probably damaging	Het
Ears2	A	G	7: 121,647,427 (GRCm39)	S286P	probably damaging	Het
Efcab7	A	G	4: 99,735,318 (GRCm39)	E114G	probably benign	Het
Fanca	G	C	8: 123,995,673 (GRCm39)		probably benign	Het
Flt3	A	G	5: 147,313,858 (GRCm39)	L64P	probably damaging	Het
Gabrb1	A	G	5: 71,857,365 (GRCm39)	T3A	possibly damaging	Het
Gm10384	T	C	15: 36,871,897 (GRCm39)		noncoding transcript	Het
Gm5117	G	A	8: 32,229,284 (GRCm39)		noncoding transcript	Het
Gpr141	T	A	13: 19,935,951 (GRCm39)	I275F	probably benign	Het
Greb1l	A	T	18: 10,522,112 (GRCm39)	E736V	probably damaging	Het
Hc	T	C	2: 34,929,260 (GRCm39)	E279G	possibly damaging	Het
Hivep1	C	T	13: 42,309,326 (GRCm39)	T522M	probably benign	Het
Hspa12a	T	A	19: 58,788,181 (GRCm39)	E547V	possibly damaging	Het
Il10ra	A	G	9: 45,180,357 (GRCm39)	L5S	probably damaging	Het
Iqcf6	G	T	9: 106,504,543 (GRCm39)	W69L	probably damaging	Het
Iqgap2	T	C	13: 95,858,117 (GRCm39)	N379S	probably damaging	Het
Itpr2	A	G	6: 146,131,273 (GRCm39)	I1977T	probably damaging	Het
Kcnq1	A	T	7: 142,661,466 (GRCm39)	Y124F	probably benign	Het
Lamp5	C	T	2: 135,900,923 (GRCm39)	T41M	probably damaging	Het
Lgr5	A	G	10: 115,294,648 (GRCm39)		probably benign	Het
Mlec	A	G	5: 115,288,355 (GRCm39)	I167T	possibly damaging	Het
Myf6	A	G	10: 107,329,689 (GRCm39)	V198A	probably benign	Het
Nceh1	C	T	3: 27,295,818 (GRCm39)	R360C	probably damaging	Het
Nos2	C	A	11: 78,819,456 (GRCm39)	T56N	possibly damaging	Het
Npw	T	G	17: 24,876,386 (GRCm39)	H175P	probably benign	Het
Nrxn3	A	T	12: 89,477,421 (GRCm39)	I899F	probably damaging	Het
Ociad1	A	G	5: 73,464,078 (GRCm39)	T179A	possibly damaging	Het
Or1e19	A	G	11: 73,316,264 (GRCm39)	S182P	probably benign	Het
Or52b4	A	G	7: 102,184,356 (GRCm39)	Y134C	probably damaging	Het
Pacsin2	T	C	15: 83,265,976 (GRCm39)	N74D	probably benign	Het
Pcdh7	A	G	5: 58,286,511 (GRCm39)	I1196V	probably benign	Het
Pdxk	A	T	10: 78,282,837 (GRCm39)		probably null	Het
Phb2	G	A	6: 124,690,105 (GRCm39)		probably null	Het
Pus7l	T	A	15: 94,438,092 (GRCm39)	N251I	probably damaging	Het
Rgs7bp	T	A	13: 105,100,597 (GRCm39)	N226I	probably damaging	Het
Runx2	T	A	17: 44,950,572 (GRCm39)	D327V	probably damaging	Het
Srp68	A	T	11: 116,156,227 (GRCm39)	C172S	probably damaging	Het
Stk25	A	G	1: 93,551,142 (GRCm39)		probably null	Het
Tbrg4	C	T	11: 6,568,468 (GRCm39)	R437Q	probably benign	Het
Tedc2	C	T	17: 24,436,862 (GRCm39)		probably null	Het
Teddm1a	T	A	1: 153,768,196 (GRCm39)	I220N	probably damaging	Het
Thoc1	G	T	18: 9,970,312 (GRCm39)	E221*	probably null	Het
Tmem132d	G	T	5: 127,869,674 (GRCm39)	D553E	possibly damaging	Het
Topors	A	T	4: 40,261,694 (GRCm39)	V530D	probably benign	Het
Tpx2	T	C	2: 152,731,103 (GRCm39)	V515A	possibly damaging	Het
Trim24	A	G	6: 37,885,240 (GRCm39)	H191R	probably damaging	Het
Ttn	G	A	2: 76,567,914 (GRCm39)	R27660W	probably damaging	Het
Vmn1r203	T	C	13: 22,708,528 (GRCm39)	L103P	probably damaging	Het
Vmn1r233	C	T	17: 21,214,368 (GRCm39)	S194N	probably benign	Het
Vmn2r108	T	C	17: 20,691,636 (GRCm39)	K296E	probably damaging	Het
Vmn2r88	G	A	14: 51,650,796 (GRCm39)	E170K	probably benign	Het
Zfp740	C	T	15: 102,117,184 (GRCm39)		probably benign	Het
Zmym5	A	G	14: 57,049,618 (GRCm39)		probably benign	Het

Other mutations in Or8b48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Or8b48	APN	9	38,492,672 (GRCm39)	missense	probably damaging	0.97
IGL01099:Or8b48	APN	9	38,493,373 (GRCm39)	missense	probably benign	0.00
IGL01749:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL01750:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL01751:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL01752:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL01753:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02262:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02264:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02298:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02305:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02309:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02309:Or8b48	APN	9	38,492,729 (GRCm39)	missense	probably damaging	1.00
IGL02317:Or8b48	APN	9	38,492,809 (GRCm39)	missense	probably damaging	1.00
IGL02401:Or8b48	APN	9	38,492,651 (GRCm39)	missense	probably damaging	1.00
R0311:Or8b48	UTSW	9	38,450,593 (GRCm39)	missense	probably benign	0.42
R0973:Or8b48	UTSW	9	38,492,579 (GRCm39)	missense	possibly damaging	0.74
R1552:Or8b48	UTSW	9	38,492,675 (GRCm39)	missense	probably benign	0.00
R1720:Or8b48	UTSW	9	38,492,585 (GRCm39)	missense	probably benign
R2149:Or8b48	UTSW	9	38,492,804 (GRCm39)	missense	probably benign	0.02
R2241:Or8b48	UTSW	9	38,493,101 (GRCm39)	missense	probably damaging	1.00
R3622:Or8b48	UTSW	9	38,492,792 (GRCm39)	missense	probably damaging	1.00
R4384:Or8b48	UTSW	9	38,493,349 (GRCm39)	missense	probably damaging	1.00
R4780:Or8b48	UTSW	9	38,493,265 (GRCm39)	missense	possibly damaging	0.84
R5221:Or8b48	UTSW	9	38,493,148 (GRCm39)	missense	probably damaging	1.00
R5503:Or8b48	UTSW	9	38,493,368 (GRCm39)	missense	probably benign
R5887:Or8b48	UTSW	9	38,493,080 (GRCm39)	missense	probably damaging	1.00
R6062:Or8b48	UTSW	9	38,450,440 (GRCm39)	missense	probably damaging	0.97
R6516:Or8b48	UTSW	9	38,492,768 (GRCm39)	missense	probably damaging	1.00
R6542:Or8b48	UTSW	9	38,450,733 (GRCm39)	missense	probably benign	0.01
R6766:Or8b48	UTSW	9	38,493,069 (GRCm39)	missense	probably damaging	1.00
R7057:Or8b48	UTSW	9	38,493,050 (GRCm39)	missense	probably damaging	1.00
R7112:Or8b48	UTSW	9	38,493,330 (GRCm39)	nonsense	probably null
R7414:Or8b48	UTSW	9	38,492,764 (GRCm39)	missense	probably benign	0.00
R7514:Or8b48	UTSW	9	38,493,347 (GRCm39)	missense	probably damaging	0.96
R7915:Or8b48	UTSW	9	38,492,969 (GRCm39)	missense	probably damaging	1.00
R9205:Or8b48	UTSW	9	38,493,373 (GRCm39)	missense	probably benign	0.00
R9290:Or8b48	UTSW	9	38,493,334 (GRCm39)	missense	probably damaging	1.00
R9626:Or8b48	UTSW	9	38,492,977 (GRCm39)	missense	probably benign
Z1176:Or8b48	UTSW	9	38,493,181 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACAAGCACCTATATAAATGAGG -3'
(R):5'- CTTGCATTTGACACAGCTGTC -3'

Sequencing Primer
(F):5'- AATGAGGTAGAGATTTTCATTGTAGG -3'
(R):5'- CATGGGGACTACAATGGT -3'

Posted On

2015-10-21