Mutagenetix > Incidental Mutation

Incidental Mutation 'R5051:Or4d11'

394674

Institutional Source

Beutler Lab

Gene Symbol

Or4d11

Ensembl Gene

ENSMUSG00000067529

Gene Name

olfactory receptor family 4 subfamily D member 11

Synonyms

MOR239-3, GA_x6K02T2RE5P-2393361-2392429, Olfr1423

MMRRC Submission

042641-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.373) question?

Stock #

R5051 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12013172-12014104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12013288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 273 (V273F)

Ref Sequence

ENSEMBL: ENSMUSP00000150649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087831] [ENSMUST00000214472]

AlphaFold

Q8VFV0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087831
AA Change: V273F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085134
Gene: ENSMUSG00000067529
AA Change: V273F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	2.7e-48	PFAM
Pfam:7tm_1	41	287	2.5e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207831

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214472
AA Change: V273F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1730

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.9%
20x: 90.6%

Validation Efficiency

98% (62/63)

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
5730522E02Rik	G	A	11: 25,718,990 (GRCm39)	T51I	unknown	Het
Alms1	C	T	6: 85,604,916 (GRCm39)	Q2189*	probably null	Het
Ank1	A	T	8: 23,609,397 (GRCm39)	D1363V	probably damaging	Het
Ap3d1	T	G	10: 80,555,033 (GRCm39)	T431P	probably damaging	Het
Arnt	A	G	3: 95,377,648 (GRCm39)	T125A	probably benign	Het
Atp10a	TGTCCGTC	TGTC	7: 58,389,994 (GRCm39)		probably null	Het
Bscl2	A	T	19: 8,822,643 (GRCm39)	R195*	probably null	Het
Ccdc146	C	T	5: 21,508,081 (GRCm39)	V656I	possibly damaging	Het
Ccn6	A	G	10: 39,031,152 (GRCm39)	F124L	probably benign	Het
Ccr4	T	C	9: 114,321,714 (GRCm39)	Y117C	probably damaging	Het
Cd55	T	A	1: 130,376,085 (GRCm39)	D355V	probably damaging	Het
Cntn6	T	A	6: 104,749,558 (GRCm39)	I259N	probably damaging	Het
Cspg4	A	G	9: 56,793,020 (GRCm39)	I252V	possibly damaging	Het
Dmbt1	T	C	7: 130,696,472 (GRCm39)	V895A	probably benign	Het
Ect2	A	G	3: 27,156,635 (GRCm39)	V775A	probably benign	Het
Gm14486	T	C	2: 30,548,889 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,756,393 (GRCm39)	N444S	possibly damaging	Het
Heatr5b	T	C	17: 79,102,703 (GRCm39)	D1225G	probably damaging	Het
Il1rl2	G	A	1: 40,382,254 (GRCm39)	V189I	probably benign	Het
Kif1a	G	A	1: 93,003,876 (GRCm39)		probably null	Het
Ltbr	T	A	6: 125,289,733 (GRCm39)	T154S	probably damaging	Het
Mrgpra6	C	T	7: 46,835,690 (GRCm39)	V244I	probably benign	Het
Myo15a	G	A	11: 60,378,251 (GRCm39)		probably null	Het
Ndufs1	A	G	1: 63,204,106 (GRCm39)		probably null	Het
Nectin3	A	T	16: 46,268,913 (GRCm39)	N496K	possibly damaging	Het
Nkd2	A	G	13: 73,973,195 (GRCm39)	V147A	probably benign	Het
Nlrp3	G	C	11: 59,457,025 (GRCm39)	R1013P	probably benign	Het
Or4k36	T	A	2: 111,146,599 (GRCm39)	Y258*	probably null	Het
Pdk2	T	C	11: 94,919,598 (GRCm39)	S263G	probably benign	Het
Pla2g4e	T	A	2: 120,004,785 (GRCm39)	I520F	probably damaging	Het
Plat	A	G	8: 23,263,688 (GRCm39)	T196A	probably benign	Het
Podn	T	A	4: 107,872,043 (GRCm39)	D400V	probably benign	Het
Poteg	T	C	8: 27,943,357 (GRCm39)	V147A	possibly damaging	Het
Prkar2a	A	G	9: 108,622,690 (GRCm39)	N315D	probably benign	Het
Rac2	A	G	15: 78,449,134 (GRCm39)	I13T	possibly damaging	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Relch	T	A	1: 105,619,711 (GRCm39)	N313K	possibly damaging	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Supv3l1	A	C	10: 62,279,196 (GRCm39)	I240S	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Tead4	A	C	6: 128,271,262 (GRCm39)		probably benign	Het
Tex10	G	A	4: 48,460,019 (GRCm39)	A444V	possibly damaging	Het
Tgds	A	T	14: 118,365,639 (GRCm39)	I73K	probably damaging	Het
Tmem117	C	A	15: 94,612,794 (GRCm39)	T110K	probably damaging	Het
Trim30a	T	A	7: 104,060,913 (GRCm39)		probably benign	Het
Unc80	C	T	1: 66,548,636 (GRCm39)	T636I	probably damaging	Het
Ybey	G	A	10: 76,304,173 (GRCm39)	R10W	probably damaging	Het
Zap70	A	G	1: 36,820,532 (GRCm39)	I576V	probably benign	Het
Zfp64	T	C	2: 168,768,304 (GRCm39)	D436G	probably damaging	Het

Other mutations in Or4d11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Or4d11	APN	19	12,013,305 (GRCm39)	missense	probably benign	0.36
IGL01843:Or4d11	APN	19	12,014,041 (GRCm39)	missense	probably benign
IGL01915:Or4d11	APN	19	12,013,461 (GRCm39)	missense	probably damaging	1.00
IGL02283:Or4d11	APN	19	12,013,219 (GRCm39)	missense	possibly damaging	0.87
IGL02807:Or4d11	APN	19	12,013,648 (GRCm39)	missense	probably benign	0.12
IGL02976:Or4d11	APN	19	12,013,337 (GRCm39)	nonsense	probably null
IGL03142:Or4d11	APN	19	12,013,752 (GRCm39)	missense	probably damaging	1.00
R0326:Or4d11	UTSW	19	12,013,525 (GRCm39)	missense	probably benign	0.00
R0369:Or4d11	UTSW	19	12,013,765 (GRCm39)	missense	probably benign	0.01
R0614:Or4d11	UTSW	19	12,013,929 (GRCm39)	missense	possibly damaging	0.93
R1940:Or4d11	UTSW	19	12,013,275 (GRCm39)	missense	probably benign	0.06
R1978:Or4d11	UTSW	19	12,013,705 (GRCm39)	missense	probably benign	0.06
R2013:Or4d11	UTSW	19	12,013,518 (GRCm39)	missense	probably damaging	1.00
R2179:Or4d11	UTSW	19	12,013,452 (GRCm39)	missense	probably damaging	1.00
R3972:Or4d11	UTSW	19	12,013,383 (GRCm39)	missense	probably damaging	0.98
R5484:Or4d11	UTSW	19	12,013,192 (GRCm39)	missense	probably benign	0.01
R5518:Or4d11	UTSW	19	12,013,429 (GRCm39)	missense	probably damaging	0.97
R5729:Or4d11	UTSW	19	12,013,272 (GRCm39)	missense	probably damaging	0.99
R6151:Or4d11	UTSW	19	12,014,100 (GRCm39)	missense	probably benign	0.00
R6708:Or4d11	UTSW	19	12,014,103 (GRCm39)	start codon destroyed	probably null	1.00
R6723:Or4d11	UTSW	19	12,013,639 (GRCm39)	missense	probably damaging	1.00
R7103:Or4d11	UTSW	19	12,013,752 (GRCm39)	missense	probably damaging	0.99
R7385:Or4d11	UTSW	19	12,013,363 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- GCAAATGGTTTCCTAGAAAGTGTAG -3'
(R):5'- CCTTCTGGTGTCCTACATGG -3'

Sequencing Primer
(F):5'- GGTAACAAGAGTTGGGGTT -3'
(R):5'- TCCTACATGGTCATCTTGATGATG -3'

Posted On

2016-06-15