Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:Or1f12'

383740

Institutional Source

Beutler Lab

Gene Symbol

Or1f12

Ensembl Gene

ENSMUSG00000048996

Gene Name

olfactory receptor family 1 subfamily F member 12

Synonyms

MOR130-2, GA_x6K02T2QHY8-11707053-11707994, Olfr1366

MMRRC Submission

042560-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21721144-21722197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21722152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 8 (Y8H)

Ref Sequence

ENSEMBL: ENSMUSP00000151506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168629] [ENSMUST00000175637] [ENSMUST00000205976] [ENSMUST00000218154]

AlphaFold

A0A1W2P740

Predicted Effect

probably benign
Transcript: ENSMUST00000168629

SMART Domains

Protein: ENSMUSP00000132776
Gene: ENSMUSG00000048996

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
Pfam:7tm_4	46	323	1.1e-59	PFAM
Pfam:7TM_GPCR_Srsx	50	320	4e-7	PFAM
Pfam:7tm_1	56	305	1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175637

SMART Domains

Protein: ENSMUSP00000135446
Gene: ENSMUSG00000048996

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	35	231	3e-7	PFAM
Pfam:7tm_1	41	237	8.7e-33	PFAM
Pfam:7tm_4	139	240	2.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205976

Predicted Effect

probably damaging
Transcript: ENSMUST00000218154
AA Change: Y8H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,470,582 (GRCm39)	I133N	probably benign	Het
Abca15	T	C	7: 119,960,142 (GRCm39)	S642P	probably damaging	Het
Abcg5	G	T	17: 84,967,569 (GRCm39)	Y410*	probably null	Het
Anapc7	T	A	5: 122,560,669 (GRCm39)	M10K	probably damaging	Het
Ank2	G	A	3: 126,825,745 (GRCm39)	T418M	probably benign	Het
Arhgap17	T	C	7: 122,907,583 (GRCm39)	R260G	possibly damaging	Het
Atp1a3	T	C	7: 24,694,051 (GRCm39)	T381A	probably damaging	Het
Cep89	T	G	7: 35,102,577 (GRCm39)	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,204,619 (GRCm39)	D309G	probably damaging	Het
Dcbld2	T	C	16: 58,286,145 (GRCm39)	I768T	probably benign	Het
Defa41	C	T	8: 21,691,774 (GRCm39)	S52F	probably damaging	Het
Dgke	A	G	11: 88,941,628 (GRCm39)	V249A	possibly damaging	Het
Dnah9	T	C	11: 65,975,437 (GRCm39)		probably null	Het
Dnajc3	C	A	14: 119,215,585 (GRCm39)	H502N	probably benign	Het
Dsp	A	G	13: 38,381,846 (GRCm39)	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,518,496 (GRCm39)	D208G	probably benign	Het
Evc	C	T	5: 37,479,393 (GRCm39)		probably null	Het
Fam98a	A	G	17: 75,845,977 (GRCm39)	S285P	probably damaging	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gsdmc	A	G	15: 63,676,229 (GRCm39)		probably null	Het
Gtpbp4	C	A	13: 9,035,253 (GRCm39)	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,982,630 (GRCm39)	Y77H	probably benign	Het
Irx2	T	C	13: 72,780,729 (GRCm39)	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,643,079 (GRCm39)	W396L	probably damaging	Het
Kif27	T	C	13: 58,476,808 (GRCm39)	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,150,226 (GRCm39)		probably null	Het
Lcn5	A	G	2: 25,551,426 (GRCm39)	I182V	probably benign	Het
Ldb3	T	G	14: 34,288,815 (GRCm39)	S252R	probably damaging	Het
Marchf8	G	A	6: 116,363,232 (GRCm39)		probably benign	Het
Mdn1	C	A	4: 32,756,512 (GRCm39)	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,014,561 (GRCm39)	H236L	probably benign	Het
Mlph	A	G	1: 90,867,112 (GRCm39)	D378G	probably damaging	Het
Msi1	T	A	5: 115,588,944 (GRCm39)	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,070,567 (GRCm39)		probably benign	Het
Mtpap	T	C	18: 4,375,638 (GRCm39)	V6A	probably benign	Het
Nedd1	C	A	10: 92,530,893 (GRCm39)	D399Y	probably damaging	Het
Ninl	A	G	2: 150,781,829 (GRCm39)	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Nle1	A	G	11: 82,795,763 (GRCm39)	V228A	probably benign	Het
Npy4r	T	A	14: 33,868,973 (GRCm39)	D105V	probably damaging	Het
Palld	C	T	8: 62,156,244 (GRCm39)	V464M	probably damaging	Het
Pclo	T	C	5: 14,719,235 (GRCm39)	V1124A	unknown	Het
Pex1	T	A	5: 3,659,924 (GRCm39)	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,367,421 (GRCm39)	S773N	probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Prmt9	A	G	8: 78,282,358 (GRCm39)	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,220,706 (GRCm39)		probably null	Het
Rbm19	T	A	5: 120,279,631 (GRCm39)	M766K	probably damaging	Het
Rdh11	A	G	12: 79,235,380 (GRCm39)	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,367 (GRCm39)	V335A	probably damaging	Het
Sema6a	T	C	18: 47,431,318 (GRCm39)	K127E	possibly damaging	Het
Slc5a1	C	T	5: 33,318,126 (GRCm39)	T593I	probably benign	Het
Slco1a1	A	G	6: 141,868,825 (GRCm39)	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826 (GRCm39)	S215P	probably damaging	Het
Smyd2	A	T	1: 189,614,385 (GRCm39)	V381E	probably damaging	Het
Smyd4	C	T	11: 75,273,120 (GRCm39)	S60L	probably benign	Het
Spata18	T	A	5: 73,836,336 (GRCm39)	V419E	probably damaging	Het
Terb1	A	G	8: 105,208,950 (GRCm39)	L376S	probably damaging	Het
Timd2	T	C	11: 46,573,617 (GRCm39)	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,197,804 (GRCm39)	T461K	probably benign	Het
Tpp2	G	A	1: 44,031,428 (GRCm39)	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,584,289 (GRCm39)	V22273A	probably damaging	Het
Tulp4	G	A	17: 6,249,088 (GRCm39)	E36K	probably damaging	Het
Uqcrfs1	A	T	13: 30,724,746 (GRCm39)	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,595,403 (GRCm39)	Q652L	probably damaging	Het
Vwf	C	T	6: 125,644,446 (GRCm39)	R2434*	probably null	Het
Wdhd1	A	G	14: 47,506,146 (GRCm39)	V256A	possibly damaging	Het
Zfp442	A	T	2: 150,250,415 (GRCm39)	C439S	probably damaging	Het
Zfp709	A	G	8: 72,643,632 (GRCm39)	T354A	probably benign	Het
Zswim2	A	T	2: 83,755,454 (GRCm39)	I149N	probably damaging	Het

Other mutations in Or1f12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02110:Or1f12	APN	13	21,722,112 (GRCm39)	missense	possibly damaging	0.50
IGL02827:Or1f12	APN	13	21,721,528 (GRCm39)	missense	probably benign	0.43
R0528:Or1f12	UTSW	13	21,721,416 (GRCm39)	missense	possibly damaging	0.95
R1650:Or1f12	UTSW	13	21,721,249 (GRCm39)	missense	probably damaging	1.00
R2168:Or1f12	UTSW	13	21,721,422 (GRCm39)	missense	probably damaging	1.00
R4936:Or1f12	UTSW	13	21,721,357 (GRCm39)	missense	probably benign	0.00
R8117:Or1f12	UTSW	13	21,722,122 (GRCm39)	missense	probably benign
R9272:Or1f12	UTSW	13	21,721,864 (GRCm39)	missense	possibly damaging	0.69
X0028:Or1f12	UTSW	13	21,721,944 (GRCm39)	missense	probably damaging	1.00
Z1177:Or1f12	UTSW	13	21,721,419 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGTGATTGTTTGAACCAATGGC -3'
(R):5'- CTGATGATGTTGAGCCTAAAGC -3'

Sequencing Primer
(F):5'- GTTTGAACCAATGGCTAACAAGATG -3'
(R):5'- GTCATAAAGACAACAGATGGGAC -3'

Posted On

2016-04-27