Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01448:Or4d5'

84530

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4d5

Ensembl Gene

ENSMUSG00000045812

Gene Name

olfactory receptor family 4 subfamily D member 5

Synonyms

Olfr984, MOR239-6, GA_x6K02T2PVTD-33799484-33798540

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

IGL01448

Quality Score

Status

Chromosome

Chromosomal Location

40011840-40012784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40012378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 136 (M136K)

Ref Sequence

ENSEMBL: ENSMUSP00000150287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056795] [ENSMUST00000213858] [ENSMUST00000214856] [ENSMUST00000217536]

AlphaFold

Q8VFN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000056795
AA Change: M136K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060787
Gene: ENSMUSG00000045812
AA Change: M136K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	1.3e-42	PFAM
Pfam:7tm_1	41	287	6e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213858
AA Change: M136K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214856
AA Change: M136K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217536
AA Change: M136K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	T	2: 130,247,767 (GRCm39)	E75D	possibly damaging	Het
1700084J12Rik	A	G	15: 33,405,779 (GRCm39)		probably benign	Het
2610303G11Rik	T	A	9: 98,068,762 (GRCm39)		noncoding transcript	Het
4931414P19Rik	T	C	14: 54,823,417 (GRCm39)	D320G	possibly damaging	Het
Adamts6	G	A	13: 104,433,672 (GRCm39)	E34K	probably damaging	Het
Alms1	T	A	6: 85,654,881 (GRCm39)	N3142K	possibly damaging	Het
Anapc7	G	A	5: 122,566,276 (GRCm39)	A62T	probably damaging	Het
Atp8b3	G	A	10: 80,356,256 (GRCm39)	P1152L	probably benign	Het
Cc2d2a	C	T	5: 43,841,527 (GRCm39)	T181I	possibly damaging	Het
Celsr2	A	G	3: 108,300,555 (GRCm39)	L2835P	probably damaging	Het
Ctns	A	T	11: 73,079,548 (GRCm39)	V99D	possibly damaging	Het
Dchs1	T	C	7: 105,421,134 (GRCm39)	R429G	probably damaging	Het
Ddx11	T	C	17: 66,441,132 (GRCm39)	V218A	probably damaging	Het
Eftud2	G	A	11: 102,756,389 (GRCm39)		probably benign	Het
Erich1	G	T	8: 14,128,853 (GRCm39)	T29N	possibly damaging	Het
Exosc8	T	C	3: 54,636,686 (GRCm39)	E215G	probably damaging	Het
Fam184a	G	T	10: 53,575,045 (GRCm39)	A188E	probably benign	Het
Fign	A	G	2: 63,810,032 (GRCm39)	S413P	probably damaging	Het
Fkbp6	A	G	5: 135,378,550 (GRCm39)	S33P	probably damaging	Het
Glb1	A	G	9: 114,279,745 (GRCm39)		probably benign	Het
H2-Q1	T	C	17: 35,542,437 (GRCm39)		probably benign	Het
Helz2	T	C	2: 180,875,770 (GRCm39)	T1575A	probably damaging	Het
Il18r1	A	G	1: 40,513,890 (GRCm39)	E32G	probably damaging	Het
Ints5	C	T	19: 8,872,851 (GRCm39)	P270L	possibly damaging	Het
Itga7	G	T	10: 128,785,337 (GRCm39)	E847*	probably null	Het
Kcns3	A	C	12: 11,141,644 (GRCm39)	S352A	possibly damaging	Het
Kiz	A	G	2: 146,705,721 (GRCm39)	K94E	probably benign	Het
Lin7b	C	T	7: 45,018,624 (GRCm39)	V12M	probably damaging	Het
Myo18b	A	T	5: 112,959,570 (GRCm39)	I1409N	probably damaging	Het
Myo5b	A	G	18: 74,777,161 (GRCm39)	H407R	probably damaging	Het
Nelfa	T	C	5: 34,056,146 (GRCm39)	T506A	probably damaging	Het
Or10p21	A	G	10: 128,847,729 (GRCm39)	T192A	probably damaging	Het
Or5p72	T	A	7: 108,022,235 (GRCm39)	Y152*	probably null	Het
Or6c69	A	G	10: 129,748,114 (GRCm39)	I11T	possibly damaging	Het
Pclo	A	C	5: 14,726,408 (GRCm39)		probably benign	Het
Pes1	G	A	11: 3,927,979 (GRCm39)	E544K	possibly damaging	Het
Rabgap1l	A	G	1: 160,568,315 (GRCm39)		probably benign	Het
Rapgef2	T	C	3: 78,976,244 (GRCm39)	M1521V	probably benign	Het
Rapgef2	C	T	3: 79,011,269 (GRCm39)		probably null	Het
Reln	A	G	5: 22,245,403 (GRCm39)	V735A	probably benign	Het
Slc2a4	A	G	11: 69,835,902 (GRCm39)	S316P	possibly damaging	Het
Smarce1	C	T	11: 99,101,013 (GRCm39)	G373E	possibly damaging	Het
Spata31d1a	T	A	13: 59,849,373 (GRCm39)	R918S	probably benign	Het
St3gal4	T	C	9: 34,963,627 (GRCm39)	K227R	probably benign	Het
Stra6l	T	A	4: 45,864,864 (GRCm39)		probably null	Het
Stxbp5l	T	C	16: 37,036,341 (GRCm39)	I425V	probably damaging	Het
Tcaf2	T	C	6: 42,607,262 (GRCm39)	T231A	probably benign	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tnks	A	G	8: 35,307,136 (GRCm39)	Y1138H	probably damaging	Het
Vezt	T	A	10: 93,832,719 (GRCm39)	I231F	probably damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Zbed3	A	G	13: 95,473,142 (GRCm39)	K189E	possibly damaging	Het
Zfp512b	T	C	2: 181,229,578 (GRCm39)	T625A	possibly damaging	Het
Zfp827	A	T	8: 79,787,362 (GRCm39)	Q176L	possibly damaging	Het

Other mutations in Or4d5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Or4d5	APN	9	40,012,450 (GRCm39)	missense	probably benign	0.03
IGL01402:Or4d5	APN	9	40,012,558 (GRCm39)	missense	probably benign	0.00
IGL01404:Or4d5	APN	9	40,012,558 (GRCm39)	missense	probably benign	0.00
IGL01445:Or4d5	APN	9	40,012,608 (GRCm39)	missense	probably benign	0.45
IGL02598:Or4d5	APN	9	40,011,861 (GRCm39)	missense	probably benign
IGL03106:Or4d5	APN	9	40,012,030 (GRCm39)	missense	probably damaging	1.00
R0616:Or4d5	UTSW	9	40,012,283 (GRCm39)	missense	probably damaging	1.00
R0712:Or4d5	UTSW	9	40,012,726 (GRCm39)	missense	probably benign
R2049:Or4d5	UTSW	9	40,012,415 (GRCm39)	missense	probably benign
R2938:Or4d5	UTSW	9	40,012,039 (GRCm39)	missense	probably benign	0.20
R4609:Or4d5	UTSW	9	40,012,102 (GRCm39)	missense	possibly damaging	0.81
R4907:Or4d5	UTSW	9	40,011,955 (GRCm39)	missense	probably benign	0.02
R5001:Or4d5	UTSW	9	40,012,523 (GRCm39)	missense	probably benign	0.02
R5174:Or4d5	UTSW	9	40,012,043 (GRCm39)	missense	possibly damaging	0.87
R5587:Or4d5	UTSW	9	40,012,540 (GRCm39)	missense	probably damaging	1.00
R5880:Or4d5	UTSW	9	40,012,543 (GRCm39)	missense	possibly damaging	0.95
R5896:Or4d5	UTSW	9	40,012,189 (GRCm39)	missense	probably damaging	0.99
R6611:Or4d5	UTSW	9	40,012,316 (GRCm39)	missense	probably benign	0.03
R6904:Or4d5	UTSW	9	40,012,652 (GRCm39)	missense	probably benign	0.04
R7015:Or4d5	UTSW	9	40,012,751 (GRCm39)	missense	probably benign	0.30
R7870:Or4d5	UTSW	9	40,011,973 (GRCm39)	missense	possibly damaging	0.93
R8191:Or4d5	UTSW	9	40,012,767 (GRCm39)	missense	probably benign	0.13
R8739:Or4d5	UTSW	9	40,012,636 (GRCm39)	missense	probably benign	0.13
R8799:Or4d5	UTSW	9	40,011,985 (GRCm39)	missense	possibly damaging	0.84
R9307:Or4d5	UTSW	9	40,012,451 (GRCm39)	missense	probably benign	0.00
R9315:Or4d5	UTSW	9	40,012,270 (GRCm39)	missense	probably benign	0.02
R9497:Or4d5	UTSW	9	40,011,935 (GRCm39)	missense	probably damaging	1.00
R9554:Or4d5	UTSW	9	40,012,160 (GRCm39)	missense	probably benign
R9568:Or4d5	UTSW	9	40,011,864 (GRCm39)	missense	probably benign	0.01

Posted On

2013-11-11