Mutagenetix > Incidental Mutation

Incidental Mutation 'R0278:Or1d2'

24483

Institutional Source

Beutler Lab

Gene Symbol

Or1d2

Ensembl Gene

ENSMUSG00000058275

Gene Name

olfactory receptor family 1 subfamily D member 2

Synonyms

Olfr412, GA_x6K02T2P1NL-4500587-4501525, MOR127-5P

MMRRC Submission

038500-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

R0278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74255497-74256435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74256028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 178 (F178L)

Ref Sequence

ENSEMBL: ENSMUSP00000149922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077794] [ENSMUST00000216362]

AlphaFold

Q7TRW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000077794
AA Change: F178L

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

SMART Domains

Protein: ENSMUSP00000076967
Gene: ENSMUSG00000058275
AA Change: F178L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.7e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	172	1.8e-8	PFAM
Pfam:7tm_1	41	289	3.8e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216362
AA Change: F178L

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

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,328,215 (GRCm39)	S3429R	probably damaging	Het
Abca3	A	G	17: 24,600,894 (GRCm39)	D436G	probably benign	Het
Acacb	C	A	5: 114,371,320 (GRCm39)	Y1816*	probably null	Het
Acer3	T	C	7: 97,910,804 (GRCm39)	Y86C	probably damaging	Het
Adgre1	A	G	17: 57,754,872 (GRCm39)	I657V	probably benign	Het
Akap1	A	G	11: 88,736,020 (GRCm39)	V214A	probably benign	Het
Ankrd42	T	C	7: 92,280,865 (GRCm39)	R22G	possibly damaging	Het
Apc2	C	T	10: 80,148,647 (GRCm39)	P1234S	possibly damaging	Het
Atp13a4	A	G	16: 29,273,652 (GRCm39)	I441T	probably damaging	Het
Cenpu	G	A	8: 47,031,344 (GRCm39)	A242T	probably damaging	Het
Col6a6	A	T	9: 105,644,487 (GRCm39)	V1267E	possibly damaging	Het
Crhr2	T	C	6: 55,094,516 (GRCm39)	T58A	probably benign	Het
Ddx6	T	G	9: 44,542,722 (GRCm39)	C385G	probably damaging	Het
Dnah7a	A	T	1: 53,543,305 (GRCm39)	N2288K	probably benign	Het
Egfl8	A	T	17: 34,833,342 (GRCm39)		probably null	Het
Elmo2	A	T	2: 165,139,287 (GRCm39)	I420N	probably damaging	Het
Elovl4	A	G	9: 83,665,248 (GRCm39)	F113L	probably benign	Het
Fancd2	T	A	6: 113,525,409 (GRCm39)		probably null	Het
Fbxl13	A	G	5: 21,728,908 (GRCm39)	V456A	probably benign	Het
Fgfr2	A	T	7: 129,863,592 (GRCm39)		probably null	Het
Fkbpl	A	T	17: 34,864,384 (GRCm39)	R51*	probably null	Het
Fn3krp	G	A	11: 121,312,406 (GRCm39)	V40M	probably damaging	Het
Fnip1	A	G	11: 54,380,169 (GRCm39)		probably null	Het
Gm15446	A	T	5: 110,091,281 (GRCm39)	Q511L	probably benign	Het
Gm7334	A	G	17: 51,006,289 (GRCm39)	K192E	probably damaging	Het
H2-Q10	A	T	17: 35,784,204 (GRCm39)	T282S	possibly damaging	Het
Hspa9	A	G	18: 35,073,963 (GRCm39)	V482A	possibly damaging	Het
Ica1l	A	T	1: 60,053,155 (GRCm39)	S128T	probably benign	Het
Il7r	A	T	15: 9,516,423 (GRCm39)	I126K	probably damaging	Het
Kcnj8	T	C	6: 142,516,074 (GRCm39)	E11G	probably benign	Het
Klkb1	A	C	8: 45,725,446 (GRCm39)	F498V	probably benign	Het
Lama1	A	G	17: 68,117,178 (GRCm39)	E2491G	probably null	Het
Lhfpl2	T	C	13: 94,310,943 (GRCm39)	V71A	probably benign	Het
Lin9	T	C	1: 180,493,488 (GRCm39)	I198T	probably damaging	Het
Lrrc7	T	A	3: 157,885,432 (GRCm39)	M431L	possibly damaging	Het
Nmt2	A	G	2: 3,326,424 (GRCm39)	T519A	probably benign	Het
Or10w1	C	A	19: 13,632,128 (GRCm39)	L112I	probably damaging	Het
Or10w1	T	A	19: 13,632,129 (GRCm39)	L112H	probably damaging	Het
Or4a74	G	T	2: 89,440,108 (GRCm39)	L113M	probably damaging	Het
Or4a74	A	T	2: 89,440,107 (GRCm39)	L113Q	probably damaging	Het
Or5al7	A	T	2: 85,992,923 (GRCm39)	Y123*	probably null	Het
Or7h8	G	T	9: 20,124,182 (GRCm39)	C179F	probably damaging	Het
Parp4	A	G	14: 56,844,980 (GRCm39)	R624G	probably damaging	Het
Pex16	C	T	2: 92,211,401 (GRCm39)	P325S	probably damaging	Het
Pik3ca	T	C	3: 32,493,902 (GRCm39)	M288T	possibly damaging	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Prss43	T	A	9: 110,656,430 (GRCm39)	M39K	probably benign	Het
Psd4	T	C	2: 24,284,450 (GRCm39)	S105P	probably damaging	Het
Ptprz1	T	A	6: 23,000,816 (GRCm39)	S969T	probably benign	Het
Rad23b	T	A	4: 55,383,575 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl10l	A	G	12: 66,331,130 (GRCm39)	M1T	probably null	Het
Sec16a	A	G	2: 26,318,328 (GRCm39)	S1588P	probably damaging	Het
Sh3rf1	A	T	8: 61,827,052 (GRCm39)	H602L	probably damaging	Het
Sparcl1	A	T	5: 104,236,263 (GRCm39)	S497T	probably benign	Het
Spata13	A	G	14: 60,929,537 (GRCm39)	Y365C	probably benign	Het
Trim5	T	C	7: 103,928,882 (GRCm39)	N20D	probably benign	Het
Vmn1r201	G	T	13: 22,659,194 (GRCm39)	W136L	probably damaging	Het
Vmn2r112	A	G	17: 22,821,987 (GRCm39)	I222V	probably benign	Het
Vmn2r56	A	T	7: 12,449,644 (GRCm39)	V198D	probably damaging	Het
Wapl	A	G	14: 34,414,569 (GRCm39)	D477G	possibly damaging	Het
Zfp202	C	A	9: 40,119,778 (GRCm39)	H194N	probably benign	Het
Zfp212	C	T	6: 47,903,453 (GRCm39)	R13W	probably damaging	Het

Other mutations in Or1d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Or1d2	APN	11	74,255,738 (GRCm39)	missense	possibly damaging	0.82
IGL01395:Or1d2	APN	11	74,255,713 (GRCm39)	missense	probably damaging	1.00
IGL01418:Or1d2	APN	11	74,255,810 (GRCm39)	missense	possibly damaging	0.85
IGL01645:Or1d2	APN	11	74,256,359 (GRCm39)	missense	possibly damaging	0.95
IGL02421:Or1d2	APN	11	74,256,017 (GRCm39)	missense	probably damaging	1.00
IGL02424:Or1d2	APN	11	74,256,299 (GRCm39)	missense	probably benign	0.09
R0206:Or1d2	UTSW	11	74,255,968 (GRCm39)	missense	probably benign	0.00
R0206:Or1d2	UTSW	11	74,255,968 (GRCm39)	missense	probably benign	0.00
R0698:Or1d2	UTSW	11	74,255,968 (GRCm39)	missense	probably benign	0.00
R1424:Or1d2	UTSW	11	74,255,780 (GRCm39)	missense	probably benign	0.05
R1549:Or1d2	UTSW	11	74,256,076 (GRCm39)	missense	probably benign	0.00
R1659:Or1d2	UTSW	11	74,255,759 (GRCm39)	missense	probably benign	0.01
R1755:Or1d2	UTSW	11	74,255,819 (GRCm39)	missense	probably damaging	1.00
R2031:Or1d2	UTSW	11	74,255,777 (GRCm39)	missense	probably damaging	1.00
R2185:Or1d2	UTSW	11	74,255,572 (GRCm39)	missense	probably benign
R3620:Or1d2	UTSW	11	74,256,050 (GRCm39)	missense	probably damaging	1.00
R4568:Or1d2	UTSW	11	74,256,035 (GRCm39)	missense	probably damaging	0.99
R4878:Or1d2	UTSW	11	74,255,674 (GRCm39)	missense	probably damaging	1.00
R7779:Or1d2	UTSW	11	74,255,771 (GRCm39)	missense	probably damaging	1.00
R8086:Or1d2	UTSW	11	74,255,780 (GRCm39)	missense	probably benign	0.05
R9155:Or1d2	UTSW	11	74,255,791 (GRCm39)	missense	probably benign	0.03
R9396:Or1d2	UTSW	11	74,256,089 (GRCm39)	missense	probably benign	0.01
R9750:Or1d2	UTSW	11	74,255,858 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- CTGGTGAGCCTTCAATCCCAGAAC -3'
(R):5'- GAAGTGGCTTCCTTAGCAGTCTTCC -3'

Sequencing Primer
(F):5'- GACAATCTCATCCTGGCTGTAATG -3'
(R):5'- ATGGGTGTCACCACTGCATAC -3'

Posted On

2013-04-16