Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01843:Or4d11'

178097

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4d11

Ensembl Gene

ENSMUSG00000067529

Gene Name

olfactory receptor family 4 subfamily D member 11

Synonyms

MOR239-3, GA_x6K02T2RE5P-2393361-2392429, Olfr1423

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.358) question?

Stock #

IGL01843

Quality Score

Status

Chromosome

Chromosomal Location

12013172-12014104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12014041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 22 (H22N)

Ref Sequence

ENSEMBL: ENSMUSP00000150649 (fasta)

Gene Model

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

AlphaFold

Q8VFV0

Predicted Effect

probably benign
Transcript: ENSMUST00000087831
AA Change: H22N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085134
Gene: ENSMUSG00000067529
AA Change: H22N

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

probably benign
Transcript: ENSMUST00000214472
AA Change: H22N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,530,301 (GRCm39)		probably benign	Het
Ap1b1	T	C	11: 4,989,169 (GRCm39)	L782P	probably damaging	Het
Arid1a	T	C	4: 133,408,765 (GRCm39)	D1914G	unknown	Het
C8a	G	A	4: 104,719,808 (GRCm39)	Q57*	probably null	Het
Cachd1	T	C	4: 100,850,069 (GRCm39)	S1144P	probably damaging	Het
Cdh23	A	T	10: 60,255,598 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,924,268 (GRCm39)	Q198R	possibly damaging	Het
Cpne8	T	C	15: 90,453,700 (GRCm39)	I228V	probably benign	Het
Cr2	A	T	1: 194,833,222 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,522,395 (GRCm39)		probably benign	Het
Cyp2c23	A	G	19: 43,994,046 (GRCm39)	V440A	probably benign	Het
Dag1	T	C	9: 108,085,281 (GRCm39)	D620G	possibly damaging	Het
Dmxl1	T	A	18: 50,011,449 (GRCm39)	L1202*	probably null	Het
Dnah3	T	G	7: 119,542,798 (GRCm39)	H3538P	probably benign	Het
Dock8	A	T	19: 25,067,292 (GRCm39)	Q312L	probably benign	Het
E2f7	T	G	10: 110,610,596 (GRCm39)	V407G	probably benign	Het
F13b	T	C	1: 139,444,165 (GRCm39)	S500P	probably damaging	Het
F5	A	G	1: 164,039,395 (GRCm39)	I2002V	probably benign	Het
Flywch1	T	A	17: 23,979,319 (GRCm39)	M439L	possibly damaging	Het
Gcn1	C	A	5: 115,757,759 (GRCm39)	A2488E	probably damaging	Het
Gria1	T	C	11: 57,208,600 (GRCm39)	S832P	probably damaging	Het
Hnrnpr	T	C	4: 136,066,724 (GRCm39)		probably benign	Het
Hps3	A	G	3: 20,083,165 (GRCm39)	I177T	probably benign	Het
Irgm2	G	A	11: 58,111,167 (GRCm39)	G298D	probably benign	Het
Kcnk7	G	A	19: 5,756,230 (GRCm39)	G152D	probably damaging	Het
Man2a2	T	C	7: 80,012,654 (GRCm39)	T620A	probably benign	Het
Mapk12	A	G	15: 89,021,669 (GRCm39)		probably benign	Het
Mapk6	T	C	9: 75,297,572 (GRCm39)	Y315C	probably damaging	Het
Mdga2	T	A	12: 66,769,905 (GRCm39)		probably null	Het
Met	T	A	6: 17,491,700 (GRCm39)	I154N	probably damaging	Het
Mtrex	T	C	13: 113,055,095 (GRCm39)		probably benign	Het
Nap1l1	A	G	10: 111,328,772 (GRCm39)	R234G	possibly damaging	Het
Olfm5	C	A	7: 103,809,951 (GRCm39)	V137F	possibly damaging	Het
Pcdha11	C	T	18: 37,145,886 (GRCm39)	T659I	probably benign	Het
Pfkm	T	C	15: 98,027,187 (GRCm39)	V620A	possibly damaging	Het
Rbak	A	G	5: 143,162,355 (GRCm39)		probably benign	Het
Rbl2	A	G	8: 91,816,844 (GRCm39)	I401M	probably benign	Het
Rragc	T	C	4: 123,814,852 (GRCm39)	S183P	probably damaging	Het
Septin3	A	G	15: 82,163,814 (GRCm39)		probably benign	Het
Slc22a6	A	T	19: 8,603,578 (GRCm39)		probably benign	Het
Spag4	A	T	2: 155,910,417 (GRCm39)	T348S	probably benign	Het
Sptbn1	T	C	11: 30,054,623 (GRCm39)	R2157G	probably benign	Het
Tmem168	G	A	6: 13,582,940 (GRCm39)	T263M	probably damaging	Het
Tnik	T	A	3: 28,625,007 (GRCm39)		probably null	Het
Tnpo2	T	A	8: 85,777,137 (GRCm39)	V549E	probably damaging	Het
Ttll7	A	C	3: 146,645,776 (GRCm39)	K545Q	possibly damaging	Het
Tubgcp5	T	G	7: 55,449,221 (GRCm39)	D139E	probably benign	Het
Vmn1r233	T	A	17: 21,214,861 (GRCm39)	N30Y	probably damaging	Het
Vmn2r25	T	G	6: 123,829,962 (GRCm39)	D63A	possibly damaging	Het
Vmn2r79	T	A	7: 86,686,485 (GRCm39)	L622Q	probably damaging	Het
Vmn2r84	T	C	10: 130,222,148 (GRCm39)	M691V	probably benign	Het
Zc3hc1	A	T	6: 30,372,729 (GRCm39)		probably benign	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
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
R5051:Or4d11	UTSW	19	12,013,288 (GRCm39)	missense	possibly damaging	0.88
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

Posted On

2014-05-07