Mutagenetix > Incidental Mutation

Incidental Mutation 'R7112:Or8b48'

551574

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

045204-MU

Accession Numbers

Essential gene?

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

Stock #

R7112 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38491540-38493507 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 38493330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 252 (Y252*)

Ref Sequence

ENSEMBL: ENSMUSP00000150014 (fasta)

Gene Model

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

AlphaFold

A0A1L1SSS5

Predicted Effect

probably null
Transcript: ENSMUST00000217160
AA Change: Y252*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	G	T	12: 112,747,747 (GRCm39)	A1036E		Het
Baz2b	A	T	2: 59,792,528 (GRCm39)	H533Q	possibly damaging	Het
Bcl2l11	T	A	2: 128,000,235 (GRCm39)	W193R	probably damaging	Het
Bcl2l12	C	T	7: 44,646,338 (GRCm39)	G24D	probably damaging	Het
Cacna1b	A	G	2: 24,580,773 (GRCm39)	V691A	probably damaging	Het
Cdh8	T	C	8: 99,922,984 (GRCm39)	D304G	probably damaging	Het
Ces3a	A	T	8: 105,784,594 (GRCm39)	Q525H	probably damaging	Het
Csmd1	C	A	8: 16,151,142 (GRCm39)	C1391F	probably damaging	Het
Cul7	G	T	17: 46,962,624 (GRCm39)	G85V	probably damaging	Het
Dnah8	G	A	17: 31,090,366 (GRCm39)	V4623I	possibly damaging	Het
Dnhd1	T	A	7: 105,363,192 (GRCm39)	L3918Q	probably damaging	Het
Exoc4	A	T	6: 33,898,423 (GRCm39)	N881Y	probably damaging	Het
Flt1	G	C	5: 147,540,379 (GRCm39)	A770G	probably damaging	Het
Fndc5	A	G	4: 129,035,915 (GRCm39)	N184S	probably benign	Het
Folh1	A	G	7: 86,424,845 (GRCm39)		probably null	Het
Frem3	A	T	8: 81,338,660 (GRCm39)	T318S	probably damaging	Het
Gba2	A	G	4: 43,568,453 (GRCm39)	V671A	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Jph2	G	A	2: 163,217,704 (GRCm39)	T324M	probably damaging	Het
Kank4	A	G	4: 98,649,758 (GRCm39)	V937A	probably damaging	Het
Kdm3a	T	A	6: 71,609,154 (GRCm39)	E24D	probably benign	Het
Kidins220	T	A	12: 25,054,018 (GRCm39)	L464Q	probably damaging	Het
Loxhd1	T	A	18: 77,476,210 (GRCm39)	V1159E	probably damaging	Het
Malrd1	A	G	2: 15,929,987 (GRCm39)	N1498D	unknown	Het
Mplkipl1	T	G	19: 61,163,997 (GRCm39)	D146A	probably damaging	Het
Mrgprb5	C	T	7: 47,818,655 (GRCm39)	V27I	probably benign	Het
Mtfr2	A	G	10: 20,233,312 (GRCm39)	N294D	probably damaging	Het
Muc6	A	T	7: 141,235,542 (GRCm39)	L498H	probably damaging	Het
N4bp2	A	G	5: 65,948,050 (GRCm39)	T227A	possibly damaging	Het
Nin	C	T	12: 70,149,573 (GRCm39)	R12Q		Het
Obscn	G	C	11: 58,920,151 (GRCm39)	A27G		Het
Or11h7	T	A	14: 50,891,583 (GRCm39)	D296E	probably benign	Het
Or4k5	T	G	14: 50,385,392 (GRCm39)	E313A	probably benign	Het
Or52r1b	G	A	7: 102,690,862 (GRCm39)	D54N	probably damaging	Het
Or8s5	T	A	15: 98,238,421 (GRCm39)	M150L	possibly damaging	Het
Polr2a	A	G	11: 69,626,135 (GRCm39)	S1672P	unknown	Het
Qprt	A	G	7: 126,707,361 (GRCm39)	V245A	probably damaging	Het
Rab11fip5	T	A	6: 85,325,176 (GRCm39)	E377V	probably damaging	Het
Rere	A	G	4: 150,491,061 (GRCm39)	T71A	probably benign	Het
Ret	A	T	6: 118,174,063 (GRCm39)	L11Q	possibly damaging	Het
Rp1	C	T	1: 4,419,241 (GRCm39)	V624I	probably benign	Het
Scaf8	T	A	17: 3,213,304 (GRCm39)	L131H	unknown	Het
Scgb2a2	A	G	19: 9,829,021 (GRCm39)	R58G	probably benign	Het
Scn11a	A	G	9: 119,583,875 (GRCm39)	I1580T	probably damaging	Het
Slco4c1	T	G	1: 96,768,866 (GRCm39)	K332T	probably damaging	Het
Sntg1	T	G	1: 8,518,289 (GRCm39)	Y368S	possibly damaging	Het
Stim1	A	G	7: 102,057,615 (GRCm39)	T143A	probably benign	Het
Tbr1	A	G	2: 61,642,160 (GRCm39)	D475G	probably benign	Het
Tcp1	A	G	17: 13,136,760 (GRCm39)	D47G	probably damaging	Het
Tpgs2	T	C	18: 25,282,194 (GRCm39)	D119G	probably damaging	Het
Trim40	C	A	17: 37,193,534 (GRCm39)	R225M	probably null	Het
Tro	GCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC	GCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC	X: 149,428,852 (GRCm39)		probably benign	Het
Trpm1	A	T	7: 63,885,593 (GRCm39)	N870Y	probably damaging	Het
Tsr3	A	G	17: 25,459,445 (GRCm39)	D47G	probably benign	Het
Vil1	G	A	1: 74,455,161 (GRCm39)	G38R	probably damaging	Het
Vmn2r91	A	T	17: 18,325,880 (GRCm39)	Q166L	possibly damaging	Het
Wdr33	C	T	18: 32,026,056 (GRCm39)	T919I	unknown	Het
Wdr36	T	C	18: 32,972,504 (GRCm39)	V64A	probably benign	Het
Xpnpep1	T	C	19: 52,998,538 (GRCm39)	I237V	probably benign	Het
Zfp780b	A	T	7: 27,662,566 (GRCm39)	I663N	probably damaging	Het
Zfyve9	G	A	4: 108,507,519 (GRCm39)	A513V	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
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
R7057:Or8b48	UTSW	9	38,493,050 (GRCm39)	missense	probably damaging	1.00
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'- AATCTTGCATTTGACACAGCTGTC -3'

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

Posted On

2019-05-15