Mutagenetix > Incidental Mutation

Incidental Mutation 'R5748:Or5b12'

445900

Institutional Source

Beutler Lab

Gene Symbol

Or5b12

Ensembl Gene

ENSMUSG00000048456

Gene Name

olfactory receptor family 5 subfamily B member 12

Synonyms

GA_x6K02T2RE5P-3249780-3248836, MOR202-5, Olfr1448

MMRRC Submission

043355-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R5748 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12896727-12897671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12897379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 98 (Q98L)

Ref Sequence

ENSEMBL: ENSMUSP00000149296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054737] [ENSMUST00000213177] [ENSMUST00000213713] [ENSMUST00000216888]

AlphaFold

Q8VFX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000054737
AA Change: Q98L

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

SMART Domains

Protein: ENSMUSP00000055664
Gene: ENSMUSG00000048456
AA Change: Q98L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	3.2e-54	PFAM
Pfam:7tm_1	39	288	1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208769

Predicted Effect

probably damaging
Transcript: ENSMUST00000213177
AA Change: Q98L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213713
AA Change: Q98L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216888
AA Change: Q98L

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

Meta Mutation Damage Score

0.2702

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (58/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,739,447 (GRCm39)	Q285R	probably damaging	Het
Acy1	T	A	9: 106,313,926 (GRCm39)	N78I	probably damaging	Het
Anln	T	C	9: 22,249,230 (GRCm39)	K166E	probably damaging	Het
C1qtnf4	A	G	2: 90,719,877 (GRCm39)	D50G	probably damaging	Het
Cntnap2	A	G	6: 45,692,818 (GRCm39)	T100A	probably damaging	Het
Cxcr6	C	T	9: 123,639,406 (GRCm39)	R143C	probably damaging	Het
Dhx16	T	C	17: 36,194,206 (GRCm39)	L439P	probably damaging	Het
Dlk1	T	C	12: 109,425,898 (GRCm39)	V257A	probably benign	Het
Ebpl	A	T	14: 61,597,793 (GRCm39)	L16Q	probably null	Het
Eml5	T	A	12: 98,791,814 (GRCm39)	Y1234F	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,200,702 (GRCm39)	D793G	probably benign	Het
Gtse1	T	C	15: 85,751,778 (GRCm39)	Y324H	probably benign	Het
Hcn1	A	T	13: 118,112,591 (GRCm39)	S852C	probably damaging	Het
Invs	A	G	4: 48,307,823 (GRCm39)	T83A	probably damaging	Het
Iqgap3	T	C	3: 88,016,677 (GRCm39)	L155P	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrrc14b	T	A	13: 74,511,759 (GRCm39)	D107V	probably damaging	Het
Mcm9	A	T	10: 53,501,825 (GRCm39)	H253Q	probably damaging	Het
Mcmdc2	A	G	1: 9,982,032 (GRCm39)	Y30C	probably damaging	Het
Mdga1	C	T	17: 30,069,525 (GRCm39)	D174N	probably benign	Het
Med13l	G	A	5: 118,731,510 (GRCm39)	R62H	probably damaging	Het
Mrgpra2b	A	G	7: 47,152,280 (GRCm39)		probably benign	Het
Nacad	T	A	11: 6,548,370 (GRCm39)	K1426*	probably null	Het
Ndufb6	A	G	4: 40,279,234 (GRCm39)	L35S	probably damaging	Het
Niban2	A	T	2: 32,809,581 (GRCm39)	K260M	probably damaging	Het
Nkapl	A	G	13: 21,651,779 (GRCm39)	I278T	probably benign	Het
Nrbp2	T	C	15: 75,961,332 (GRCm39)	E263G	probably damaging	Het
Nup85	T	A	11: 115,471,338 (GRCm39)	L110Q	probably damaging	Het
Or14c40	A	G	7: 86,313,293 (GRCm39)	N141S	possibly damaging	Het
Or1e35	A	G	11: 73,797,721 (GRCm39)	I199T	probably damaging	Het
Or2t6	T	C	14: 14,175,314 (GRCm38)	Y256C	probably damaging	Het
Or4a78	A	T	2: 89,498,146 (GRCm39)	M28K	possibly damaging	Het
Or6b2b	T	A	1: 92,418,815 (GRCm39)	I221F	probably damaging	Het
Polr2m	C	T	9: 71,390,918 (GRCm39)	D95N	probably benign	Het
Popdc2	A	T	16: 38,194,665 (GRCm39)	D362V	probably damaging	Het
Pot1a	A	T	6: 25,758,855 (GRCm39)	I308N	possibly damaging	Het
Rsf1	GCGGCGGC	GCGGCGGCGTCGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rundc3a	G	A	11: 102,290,225 (GRCm39)	E189K	possibly damaging	Het
Scaf1	A	C	7: 44,662,230 (GRCm39)		probably null	Het
Scaper	T	C	9: 55,766,360 (GRCm39)		probably null	Het
Sh3glb1	C	T	3: 144,418,410 (GRCm39)	C51Y	probably damaging	Het
Slc10a5	T	C	3: 10,400,391 (GRCm39)	T90A	probably benign	Het
Slc17a3	T	A	13: 24,040,449 (GRCm39)	S336T	probably damaging	Het
Slc41a2	C	A	10: 83,133,023 (GRCm39)	C341F	probably benign	Het
Spata31	A	G	13: 65,068,127 (GRCm39)	*67W	probably null	Het
Stap2	C	T	17: 56,307,475 (GRCm39)		probably null	Het
Stt3a	A	T	9: 36,663,696 (GRCm39)	M182K	probably benign	Het
Tcfl5	G	A	2: 180,284,050 (GRCm39)		silent	Het
Tmx3	T	C	18: 90,555,225 (GRCm39)	V314A	probably benign	Het
Upf1	A	G	8: 70,791,167 (GRCm39)	L525P	probably damaging	Het
Wdr6	T	C	9: 108,452,981 (GRCm39)	I301V	possibly damaging	Het
Ylpm1	T	A	12: 85,107,025 (GRCm39)		probably null	Het
Zfp273	T	C	13: 67,973,450 (GRCm39)	Y160H	probably damaging	Het

Other mutations in Or5b12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Or5b12	APN	19	12,897,490 (GRCm39)	missense	probably damaging	1.00
IGL01730:Or5b12	APN	19	12,896,926 (GRCm39)	missense	probably damaging	1.00
IGL01901:Or5b12	APN	19	12,896,947 (GRCm39)	missense	probably damaging	0.98
IGL02055:Or5b12	APN	19	12,896,930 (GRCm39)	missense	possibly damaging	0.78
R0152:Or5b12	UTSW	19	12,897,472 (GRCm39)	missense	possibly damaging	0.49
R0311:Or5b12	UTSW	19	12,897,460 (GRCm39)	missense	possibly damaging	0.91
R0349:Or5b12	UTSW	19	12,897,299 (GRCm39)	missense	probably damaging	1.00
R1873:Or5b12	UTSW	19	12,896,852 (GRCm39)	missense	probably damaging	1.00
R2371:Or5b12	UTSW	19	12,897,031 (GRCm39)	missense	probably benign	0.02
R3548:Or5b12	UTSW	19	12,897,031 (GRCm39)	missense	probably benign	0.02
R4697:Or5b12	UTSW	19	12,897,298 (GRCm39)	missense	probably damaging	0.99
R5482:Or5b12	UTSW	19	12,897,269 (GRCm39)	missense	probably damaging	0.96
R5749:Or5b12	UTSW	19	12,897,589 (GRCm39)	missense	probably benign	0.02
R5795:Or5b12	UTSW	19	12,897,188 (GRCm39)	missense	possibly damaging	0.95
R5952:Or5b12	UTSW	19	12,897,194 (GRCm39)	missense	probably benign	0.00
R6228:Or5b12	UTSW	19	12,897,301 (GRCm39)	missense	probably damaging	1.00
R6273:Or5b12	UTSW	19	12,896,764 (GRCm39)	missense	probably benign	0.02
R6341:Or5b12	UTSW	19	12,896,843 (GRCm39)	missense	probably benign	0.29
R6343:Or5b12	UTSW	19	12,896,946 (GRCm39)	missense	probably damaging	1.00
R6454:Or5b12	UTSW	19	12,897,395 (GRCm39)	missense	probably benign	0.10
R7666:Or5b12	UTSW	19	12,897,526 (GRCm39)	missense	probably damaging	0.99
R7810:Or5b12	UTSW	19	12,897,229 (GRCm39)	missense	probably benign	0.01
R7859:Or5b12	UTSW	19	12,897,346 (GRCm39)	missense	probably damaging	1.00
R7869:Or5b12	UTSW	19	12,896,911 (GRCm39)	missense	probably benign	0.26
R8518:Or5b12	UTSW	19	12,896,959 (GRCm39)	missense	probably damaging	0.99
R9011:Or5b12	UTSW	19	12,897,479 (GRCm39)	missense	probably damaging	1.00
R9043:Or5b12	UTSW	19	12,897,667 (GRCm39)	missense	probably benign	0.12
R9162:Or5b12	UTSW	19	12,897,024 (GRCm39)	nonsense	probably null
R9273:Or5b12	UTSW	19	12,897,446 (GRCm39)	missense	possibly damaging	0.64
R9279:Or5b12	UTSW	19	12,897,309 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTGTCTGAGCACGATAGG -3'
(R):5'- AATGGTAGGGTTGATCCTGC -3'

Sequencing Primer
(F):5'- GCCTGAAAATGTTCCCAGTG -3'
(R):5'- GGTTGATCCTGCTGGACTCAC -3'

Posted On

2016-11-21