Mutagenetix > Incidental Mutation

Incidental Mutation 'R7057:Or8b48'

547989

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

045154-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.314) question?

Stock #

R7057 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38491540-38493507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38493050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 159 (H159L)

Ref Sequence

ENSEMBL: ENSMUSP00000150014 (fasta)

Gene Model

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

AlphaFold

A0A1L1SSS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000217160
AA Change: H159L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,945,181 (GRCm39)	V220D	probably benign	Het
Ankrd1	T	C	19: 36,095,633 (GRCm39)	E113G	possibly damaging	Het
Aqp12	T	C	1: 92,939,718 (GRCm39)	L249P	probably damaging	Het
Atg4a-ps	A	G	3: 103,553,296 (GRCm39)	F15S	possibly damaging	Het
Bub1	T	A	2: 127,671,447 (GRCm39)	M46L	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C2cd4d	A	G	3: 94,270,800 (GRCm39)	H22R	probably benign	Het
Ccdc157	A	G	11: 4,094,586 (GRCm39)	V480A	probably benign	Het
Cdc42ep3	G	A	17: 79,642,952 (GRCm39)		probably benign	Het
Cela1	T	A	15: 100,580,774 (GRCm39)	T161S	possibly damaging	Het
Chtf18	G	T	17: 25,940,100 (GRCm39)	A697E	possibly damaging	Het
Cr2	T	C	1: 194,833,918 (GRCm39)	D957G	possibly damaging	Het
Cyp2c40	A	G	19: 39,796,063 (GRCm39)	V60A	probably damaging	Het
Dazl	CCATGATGGCGGC	CC	17: 50,600,434 (GRCm39)		probably null	Het
Dock2	A	T	11: 34,177,684 (GRCm39)	L1824Q	probably benign	Het
Dock2	T	C	11: 34,586,044 (GRCm39)	Y546C	probably benign	Het
Focad	G	A	4: 88,192,342 (GRCm39)	C557Y	unknown	Het
Ftmt	T	A	18: 52,465,180 (GRCm39)	N165K	probably benign	Het
Gen1	A	C	12: 11,292,419 (GRCm39)	S457A	probably benign	Het
Gja1	T	G	10: 56,264,129 (GRCm39)	S163A	probably benign	Het
Gm8267	T	C	14: 44,959,481 (GRCm39)	I194M	probably damaging	Het
Golga3	T	A	5: 110,336,529 (GRCm39)	S389R	probably damaging	Het
Gpc5	C	A	14: 115,370,654 (GRCm39)	Q87K	possibly damaging	Het
Hmcn2	G	A	2: 31,312,661 (GRCm39)	A3420T	probably damaging	Het
Htt	A	G	5: 34,979,067 (GRCm39)	S817G	probably null	Het
Hus1b	C	T	13: 31,131,533 (GRCm39)	C42Y	possibly damaging	Het
Iars2	A	G	1: 185,021,564 (GRCm39)	F913L	probably benign	Het
Kcna4	A	G	2: 107,125,665 (GRCm39)	E133G	probably damaging	Het
Klhl36	T	C	8: 120,603,536 (GRCm39)	L597P	probably benign	Het
Ltv1	T	C	10: 13,056,646 (GRCm39)	E299G	possibly damaging	Het
Mmp12	A	G	9: 7,357,840 (GRCm39)	Y348C	probably damaging	Het
Mmp12	G	A	9: 7,369,173 (GRCm39)	V270I	probably benign	Het
Mmp2	A	G	8: 93,558,333 (GRCm39)	D134G	probably damaging	Het
Mrpl15	A	T	1: 4,846,865 (GRCm39)	M237K	probably benign	Het
Ms4a6b	G	T	19: 11,504,253 (GRCm39)	V177F	possibly damaging	Het
Muc16	A	G	9: 18,557,375 (GRCm39)	S2973P	unknown	Het
Or1e30	A	C	11: 73,677,974 (GRCm39)	D70A	possibly damaging	Het
Or4c114	A	C	2: 88,904,808 (GRCm39)	I209S	possibly damaging	Het
Or5b120	G	T	19: 13,480,243 (GRCm39)	D179Y	probably damaging	Het
Or5b12b	A	T	19: 12,862,006 (GRCm39)	I254F	probably damaging	Het
Pikfyve	T	A	1: 65,286,364 (GRCm39)	I1201K	probably benign	Het
Plekhn1	T	G	4: 156,318,374 (GRCm39)	M83L	probably damaging	Het
Pnlip	G	T	19: 58,664,695 (GRCm39)	D212Y	probably damaging	Het
Pomt2	T	C	12: 87,174,152 (GRCm39)	N417S	probably damaging	Het
Pxylp1	T	A	9: 96,707,103 (GRCm39)	M360L	probably benign	Het
Rbak	G	A	5: 143,159,682 (GRCm39)	T457I	possibly damaging	Het
Runx2	A	T	17: 45,125,424 (GRCm39)	W31R	probably null	Het
Sec16a	T	A	2: 26,315,277 (GRCm39)	I1795F	probably damaging	Het
Sik2	A	T	9: 50,909,861 (GRCm39)	I64N	probably damaging	Het
Slc26a8	T	C	17: 28,857,371 (GRCm39)	E924G	possibly damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Slc45a4	C	A	15: 73,459,487 (GRCm39)	D174Y	probably damaging	Het
Slc6a6	A	C	6: 91,718,248 (GRCm39)	E354A	probably damaging	Het
Slc8a1	A	T	17: 81,956,524 (GRCm39)	S171R	probably damaging	Het
Srgap1	T	C	10: 121,640,858 (GRCm39)	I669M	probably benign	Het
Stk39	C	A	2: 68,240,471 (GRCm39)	A87S	possibly damaging	Het
Tasor	A	T	14: 27,183,608 (GRCm39)	N689I	probably damaging	Het
Tbx18	C	A	9: 87,587,317 (GRCm39)	S600I	possibly damaging	Het
Tesc	A	C	5: 118,193,025 (GRCm39)	K114Q	probably damaging	Het
Tll1	T	C	8: 64,554,915 (GRCm39)	D256G	probably damaging	Het
Tmem35b	T	A	4: 127,021,679 (GRCm39)	I45K	probably benign	Het
Tnks	T	C	8: 35,307,168 (GRCm39)	D1127G	probably damaging	Het
Trpm8	A	T	1: 88,289,802 (GRCm39)	D920V	probably null	Het
U2af1	A	T	17: 31,867,831 (GRCm39)	D79E	probably benign	Het
Zfp704	T	C	3: 9,535,977 (GRCm39)	D331G	probably damaging	Het
Znrf3	G	T	11: 5,232,442 (GRCm39)	P261Q	probably benign	Het
Zscan4b	A	T	7: 10,635,636 (GRCm39)	C202*	probably null	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
R4686:Or8b48	UTSW	9	38,493,327 (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
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'- TGCGGGATGTATGACTCAACTC -3'
(R):5'- CCCCTAGTGGACTTTATTTGGAGG -3'

Sequencing Primer
(F):5'- GGGATGTATGACTCAACTCTACTTC -3'
(R):5'- TGGAGGATATTAGAAAGGATAAAGCC -3'

Posted On

2019-05-13