Mutagenetix > Incidental Mutation

Incidental Mutation 'R4524:Or8b12'

334368

Institutional Source

Beutler Lab

Gene Symbol

Or8b12

Ensembl Gene

ENSMUSG00000063350

Gene Name

olfactory receptor family 8 subfamily B member 12

Synonyms

GA_x6K02T2PVTD-31428850-31429782, MOR161-2, Olfr874

MMRRC Submission

041766-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R4524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37656596-37658402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37658162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 244 (L244S)

Ref Sequence

ENSEMBL: ENSMUSP00000150088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115004] [ENSMUST00000216982]

AlphaFold

Q7TRE6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115004
AA Change: L244S

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110656
Gene: ENSMUSG00000063350
AA Change: L244S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	5.9e-49	PFAM
Pfam:7tm_1	40	289	6.2e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216982
AA Change: L244S

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (58/60)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,342,076 (GRCm39)	S962G	probably benign	Het
Ackr2	T	C	9: 121,738,609 (GRCm39)	V328A	probably benign	Het
Ang4	G	T	14: 52,001,605 (GRCm39)	C114*	probably null	Het
Arid1b	A	T	17: 5,147,895 (GRCm39)	Q599L	possibly damaging	Het
Ascc3	A	G	10: 50,536,766 (GRCm39)	N700D	probably benign	Het
Atrnl1	A	G	19: 57,618,738 (GRCm39)	D152G	probably damaging	Het
Birc6	C	T	17: 74,948,772 (GRCm39)	T3067I	probably damaging	Het
Bmpr2	T	C	1: 59,906,571 (GRCm39)	S555P	probably benign	Het
Brox	A	T	1: 183,074,045 (GRCm39)	L68I	possibly damaging	Het
C130026L21Rik	A	G	5: 111,733,738 (GRCm39)		noncoding transcript	Het
Cavin2	T	C	1: 51,340,229 (GRCm39)	V302A	probably benign	Het
Cbln3	A	T	14: 56,121,522 (GRCm39)	C41*	probably null	Het
Ccdc88c	G	T	12: 100,879,591 (GRCm39)	S1843R	possibly damaging	Het
Clec4a2	T	A	6: 123,102,043 (GRCm39)	I66N	probably damaging	Het
Cybc1	A	G	11: 121,114,934 (GRCm39)		probably benign	Het
Ddx27	T	A	2: 166,869,640 (GRCm39)	C358*	probably null	Het
Ehbp1	A	T	11: 22,101,843 (GRCm39)	D228E	probably damaging	Het
Emc7	T	C	2: 112,285,609 (GRCm39)	V66A	probably damaging	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Furin	T	C	7: 80,048,382 (GRCm39)		probably null	Het
Gm3739	T	A	14: 18,505,267 (GRCm39)	K86*	probably null	Het
Gmpr	A	T	13: 45,683,215 (GRCm39)	E162V	probably damaging	Het
Gtpbp4	A	T	13: 9,024,330 (GRCm39)	V541D	probably benign	Het
Myh2	G	T	11: 67,067,096 (GRCm39)	G184W	probably damaging	Het
Nop2	G	T	6: 125,110,515 (GRCm39)	R47L	probably damaging	Het
Nrg4	T	G	9: 55,135,186 (GRCm39)		probably benign	Het
Ntng1	A	G	3: 109,842,312 (GRCm39)	S154P	probably damaging	Het
Or14a257	G	T	7: 86,138,034 (GRCm39)	H242N	probably damaging	Het
Pde7a	T	A	3: 19,285,140 (GRCm39)	H349L	possibly damaging	Het
Pds5b	A	T	5: 150,711,781 (GRCm39)	D913V	probably damaging	Het
Plce1	T	C	19: 38,512,763 (GRCm39)	S21P	possibly damaging	Het
Ralgapb	C	A	2: 158,279,226 (GRCm39)	T104N	probably benign	Het
Rapgef1	A	G	2: 29,569,258 (GRCm39)	I59V	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Rsph6a	C	T	7: 18,799,970 (GRCm39)	H534Y	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Shcbp1	T	C	8: 4,789,193 (GRCm39)	Y542C	probably damaging	Het
Shisa8	C	G	15: 82,096,163 (GRCm39)	V151L	possibly damaging	Het
Slc7a8	G	A	14: 54,975,059 (GRCm39)	T190I	probably damaging	Het
Spire2	T	A	8: 124,086,974 (GRCm39)	S382T	probably benign	Het
Stard9	A	G	2: 120,526,926 (GRCm39)	D1061G	probably damaging	Het
Tex44	T	G	1: 86,355,298 (GRCm39)	D402E	probably benign	Het
Thbs1	G	T	2: 117,953,460 (GRCm39)	R959L	probably damaging	Het
Tiam2	A	G	17: 3,564,986 (GRCm39)	D1408G	probably damaging	Het
Trrap	C	T	5: 144,762,131 (GRCm39)	T2352I	probably benign	Het
Tspyl5	T	A	15: 33,687,738 (GRCm39)	E69V	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Washc1	C	T	17: 66,426,087 (GRCm39)	Q462*	probably null	Het
Xdh	C	A	17: 74,205,339 (GRCm39)	G1042V	probably damaging	Het

Other mutations in Or8b12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Or8b12	APN	9	37,657,685 (GRCm39)	missense	possibly damaging	0.89
IGL02349:Or8b12	APN	9	37,657,502 (GRCm39)	missense	probably benign	0.03
IGL02799:Or8b12	UTSW	9	37,657,805 (GRCm39)	missense	probably damaging	1.00
R0498:Or8b12	UTSW	9	37,657,550 (GRCm39)	missense	probably damaging	1.00
R0690:Or8b12	UTSW	9	37,657,513 (GRCm39)	missense	probably benign	0.01
R1053:Or8b12	UTSW	9	37,658,131 (GRCm39)	missense	probably damaging	0.99
R1777:Or8b12	UTSW	9	37,657,607 (GRCm39)	missense	possibly damaging	0.78
R1862:Or8b12	UTSW	9	37,658,264 (GRCm39)	missense	probably benign
R1907:Or8b12	UTSW	9	37,657,729 (GRCm39)	missense	probably benign	0.35
R4731:Or8b12	UTSW	9	37,657,831 (GRCm39)	missense	probably benign	0.06
R4746:Or8b12	UTSW	9	37,657,453 (GRCm39)	missense	probably benign	0.02
R4768:Or8b12	UTSW	9	37,658,177 (GRCm39)	missense	probably damaging	1.00
R5130:Or8b12	UTSW	9	37,657,805 (GRCm39)	missense	probably damaging	1.00
R5406:Or8b12	UTSW	9	37,657,943 (GRCm39)	missense	probably benign	0.23
R5546:Or8b12	UTSW	9	37,657,820 (GRCm39)	missense	probably benign	0.05
R5882:Or8b12	UTSW	9	37,657,928 (GRCm39)	missense	probably benign	0.02
R5946:Or8b12	UTSW	9	37,658,330 (GRCm39)	missense	probably damaging	0.99
R6226:Or8b12	UTSW	9	37,657,433 (GRCm39)	start codon destroyed	probably null	1.00
R6705:Or8b12	UTSW	9	37,658,030 (GRCm39)	missense	possibly damaging	0.94
R6965:Or8b12	UTSW	9	37,657,433 (GRCm39)	start codon destroyed	probably null	1.00
R8008:Or8b12	UTSW	9	37,658,089 (GRCm39)	missense	probably damaging	0.99
R8743:Or8b12	UTSW	9	37,658,174 (GRCm39)	missense	probably benign
R9066:Or8b12	UTSW	9	37,657,871 (GRCm39)	missense	possibly damaging	0.65
R9068:Or8b12	UTSW	9	37,657,963 (GRCm39)	missense	probably damaging	1.00
R9756:Or8b12	UTSW	9	37,658,314 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GTGCTGACAACCTCATCAATC -3'
(R):5'- TCCTCAGAGCAACTTTGACATC -3'

Sequencing Primer
(F):5'- AACCTCATCAATCACTTCATGTGTG -3'
(R):5'- CAGAGCAACTTTGACATCCTTATTTC -3'

Posted On

2015-08-18