Mutagenetix > Incidental Mutation

Incidental Mutation 'R9066:Or8b12'

689275

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

068891-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R9066 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37656596-37658402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37657871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 147 (V147G)

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: V147G

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110656
Gene: ENSMUSG00000063350
AA Change: V147G

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: V147G

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (46/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,849,188 (GRCm39)	T1858A	probably damaging	Het
Atp1a1	A	G	3: 101,489,338 (GRCm39)	I758T	probably damaging	Het
Atp2c1	T	C	9: 105,330,845 (GRCm39)	E225G	probably damaging	Het
Clec7a	A	C	6: 129,444,491 (GRCm39)	S115A	probably benign	Het
Cnbd1	T	C	4: 19,098,181 (GRCm39)	T80A	probably benign	Het
Ctu1	A	G	7: 43,326,019 (GRCm39)	H226R	possibly damaging	Het
Dctn4	T	C	18: 60,659,387 (GRCm39)	F29L	probably damaging	Het
Dnajb2	A	G	1: 75,217,874 (GRCm39)	T169A		Het
Efcab3	T	A	11: 104,631,688 (GRCm39)		probably benign	Het
Esf1	A	T	2: 139,990,693 (GRCm39)	M597K	probably benign	Het
Fzd7	C	T	1: 59,521,991 (GRCm39)		probably benign	Het
Gapvd1	C	A	2: 34,617,297 (GRCm39)	Q349H	probably damaging	Het
Garin5b	T	C	7: 4,773,518 (GRCm39)		probably benign	Het
Gata5	A	G	2: 179,968,761 (GRCm39)	F371S		Het
Gm572	A	T	4: 148,751,278 (GRCm39)	Q217L	possibly damaging	Het
Igkv14-130	T	A	6: 67,768,219 (GRCm39)	M26K	probably damaging	Het
Jchain	T	G	5: 88,675,638 (GRCm39)	M1L	probably benign	Het
Kcnj14	G	A	7: 45,469,073 (GRCm39)	T144M	probably damaging	Het
Kirrel2	C	A	7: 30,153,454 (GRCm39)	A302S	probably damaging	Het
Klhl29	C	T	12: 5,260,114 (GRCm39)	V35I	probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lgi4	A	C	7: 30,759,446 (GRCm39)	M1L	probably benign	Het
Ncr1	A	G	7: 4,347,552 (GRCm39)	D276G	probably benign	Het
Nfatc3	T	A	8: 106,825,782 (GRCm39)	M619K	probably benign	Het
Nudcd1	A	T	15: 44,243,588 (GRCm39)	F441I	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or10a3n	A	T	7: 108,493,253 (GRCm39)	Y125*	probably null	Het
Pop1	A	T	15: 34,516,060 (GRCm39)	Q586L	possibly damaging	Het
Prss3b	C	T	6: 41,008,640 (GRCm39)	G225R	probably benign	Het
Rcbtb1	T	G	14: 59,462,206 (GRCm39)	I279S	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Serpine3	A	G	14: 62,929,555 (GRCm39)	D401G	probably damaging	Het
Slc25a4	A	G	8: 46,662,115 (GRCm39)	V181A	probably damaging	Het
Slc26a2	T	G	18: 61,335,130 (GRCm39)	I108L	probably benign	Het
Slc27a5	A	C	7: 12,722,530 (GRCm39)	V648G	possibly damaging	Het
Slc2a7	T	C	4: 150,250,872 (GRCm39)	F431S	probably damaging	Het
Sox11	T	C	12: 27,391,422 (GRCm39)	H329R	possibly damaging	Het
Speg	G	A	1: 75,361,654 (GRCm39)	G223R	probably damaging	Het
Synpo2	G	A	3: 122,911,133 (GRCm39)	H171Y	possibly damaging	Het
Tle6	G	T	10: 81,430,212 (GRCm39)	N323K	possibly damaging	Het
Ugt3a1	A	T	15: 9,367,384 (GRCm39)	M376L	possibly damaging	Het
Unc13d	T	C	11: 115,957,561 (GRCm39)	K798R	probably benign	Het
Vasp	A	T	7: 18,998,433 (GRCm39)	H80Q	probably damaging	Het
Vmn2r28	T	C	7: 5,491,596 (GRCm39)	D217G	probably damaging	Het
Vps41	T	C	13: 19,008,018 (GRCm39)	S284P	probably damaging	Het
Zer1	A	C	2: 30,000,686 (GRCm39)	L245R	probably damaging	Het
Zfp516	G	T	18: 82,973,964 (GRCm39)	R54L	probably damaging	Het
Zfp868	T	C	8: 70,064,292 (GRCm39)	K348E	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
R4524:Or8b12	UTSW	9	37,658,162 (GRCm39)	missense	possibly damaging	0.50
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
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'- GAAGAACATCATCTCACACTCAGGG -3'
(R):5'- TCTGTGGAATGCATGCGAAG -3'

Sequencing Primer
(F):5'- CCATGGCATATGACCGTT -3'
(R):5'- TGGTGACAATGGGCACACC -3'

Posted On

2021-11-19