Mutagenetix > Incidental Mutation

Incidental Mutation 'R1659:Or1d2'

186606

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

039695-MU

Accession Numbers

Essential gene?

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

Stock #

R1659 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74255497-74256435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74255759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 88 (Q88L)

Ref Sequence

ENSEMBL: ENSMUSP00000149922 (fasta)

Gene Model

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

AlphaFold

Q7TRW7

Predicted Effect

probably benign
Transcript: ENSMUST00000077794
AA Change: Q88L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000076967
Gene: ENSMUSG00000058275
AA Change: Q88L

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 benign
Transcript: ENSMUST00000216362
AA Change: Q88L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.4%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,114,633 (GRCm39)	L87Q	probably damaging	Het
Atp13a5	T	G	16: 29,112,251 (GRCm39)	D630A	probably benign	Het
Brd7	G	T	8: 89,060,420 (GRCm39)	P568T	probably damaging	Het
Ccdc141	A	G	2: 76,885,027 (GRCm39)	L538P	probably benign	Het
Cd177	G	T	7: 24,445,562 (GRCm39)	T627K	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdhr2	T	A	13: 54,867,574 (GRCm39)	I468N	probably damaging	Het
Cdk14	T	C	5: 4,999,571 (GRCm39)	T338A	probably benign	Het
Celsr2	G	A	3: 108,321,411 (GRCm39)	T467I	probably benign	Het
Chrd	A	G	16: 20,554,581 (GRCm39)	E380G	probably damaging	Het
Cnnm4	C	A	1: 36,511,246 (GRCm39)	T158N	probably benign	Het
Ddx51	T	A	5: 110,802,986 (GRCm39)	I254N	probably damaging	Het
Deptor	G	A	15: 55,081,670 (GRCm39)		probably null	Het
Dnah11	T	A	12: 118,084,459 (GRCm39)	H1215L	possibly damaging	Het
Dock1	A	G	7: 134,390,972 (GRCm39)	Y744C	probably damaging	Het
Dok7	C	T	5: 35,236,483 (GRCm39)	T257I	possibly damaging	Het
Eif4g1	T	C	16: 20,499,811 (GRCm39)	Y591H	probably damaging	Het
Fat3	T	C	9: 15,908,479 (GRCm39)	T2508A	possibly damaging	Het
Gm266	A	G	12: 111,451,723 (GRCm39)	V161A	probably damaging	Het
Golgb1	A	G	16: 36,707,979 (GRCm39)	I107V	probably benign	Het
Gpnmb	T	C	6: 49,024,786 (GRCm39)	F273L	probably damaging	Het
Hcn1	A	T	13: 118,112,610 (GRCm39)	Q858L	probably damaging	Het
Hcrtr1	G	T	4: 130,029,129 (GRCm39)	Y224*	probably null	Het
Hepacam	A	G	9: 37,291,954 (GRCm39)	D94G	probably benign	Het
Herc2	T	A	7: 55,784,853 (GRCm39)	H1432Q	probably benign	Het
Il20	T	A	1: 130,836,086 (GRCm39)		probably null	Het
Itga10	A	G	3: 96,570,293 (GRCm39)	T1150A	probably damaging	Het
Itgax	C	T	7: 127,730,063 (GRCm39)	T73I	probably benign	Het
Kdm6b	T	A	11: 69,298,414 (GRCm39)	Q98L	possibly damaging	Het
Lrrc7	A	G	3: 157,867,045 (GRCm39)	W899R	probably damaging	Het
Meikin	C	A	11: 54,281,392 (GRCm39)	S154*	probably null	Het
Mrgprg	A	T	7: 143,318,288 (GRCm39)	S275T	possibly damaging	Het
Mstn	C	T	1: 53,103,236 (GRCm39)	R191*	probably null	Het
Neu3	A	G	7: 99,462,640 (GRCm39)	I361T	probably damaging	Het
Nrxn3	A	G	12: 90,299,165 (GRCm39)	D425G	probably damaging	Het
Nup205	T	A	6: 35,211,723 (GRCm39)	M1688K	probably benign	Het
Omg	C	T	11: 79,393,726 (GRCm39)	C44Y	possibly damaging	Het
Or52n3	A	G	7: 104,530,387 (GRCm39)	M158V	probably benign	Het
Pcdh8	T	C	14: 80,005,574 (GRCm39)	D938G	probably damaging	Het
Pp2d1	T	C	17: 53,822,406 (GRCm39)	D220G	possibly damaging	Het
Prune2	C	T	19: 17,098,015 (GRCm39)	T1173I	possibly damaging	Het
Rbfox3	T	C	11: 118,384,981 (GRCm39)	T359A	probably damaging	Het
Rhpn2	A	G	7: 35,076,466 (GRCm39)	Y339C	probably damaging	Het
Rpl7a-ps3	A	G	15: 36,308,309 (GRCm39)		noncoding transcript	Het
Sars1	T	C	3: 108,336,732 (GRCm39)	E217G	probably damaging	Het
Sec61a2	A	G	2: 5,891,345 (GRCm39)	F62S	possibly damaging	Het
Slc12a7	T	A	13: 73,938,790 (GRCm39)	I189N	probably damaging	Het
Slc5a10	G	A	11: 61,567,070 (GRCm39)	A375V	possibly damaging	Het
Srfbp1	C	T	18: 52,621,967 (GRCm39)	H343Y	possibly damaging	Het
Tbck	T	G	3: 132,440,116 (GRCm39)	I486M	probably damaging	Het
Thra	G	A	11: 98,647,805 (GRCm39)	A60T	probably damaging	Het
Thsd7a	T	A	6: 12,504,063 (GRCm39)	T364S	possibly damaging	Het
Ttc16	C	T	2: 32,652,547 (GRCm39)	D761N	probably benign	Het
Vwa7	T	C	17: 35,238,047 (GRCm39)	L216P	probably benign	Het
Ydjc	T	C	16: 16,965,703 (GRCm39)	V156A	possibly 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
R0278:Or1d2	UTSW	11	74,256,028 (GRCm39)	missense	probably damaging	1.00
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
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'- GCATCAGCGCATCCTATTCTGGAC -3'
(R):5'- TCCGAGACCCACAGAAGGTTACTC -3'

Sequencing Primer
(F):5'- GGACCTTCCTGTCCATGTACC -3'
(R):5'- CCACAGAAGGTTACTCTGGTC -3'

Posted On

2014-05-09