Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03106:Or4d5'

418957

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 #

IGL03106

Quality Score

Status

Chromosome

Chromosomal Location

40011840-40012784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40012030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 252 (V252A)

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: V252A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000060787
Gene: ENSMUSG00000045812
AA Change: V252A

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: V252A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214856
AA Change: V252A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217536
AA Change: V252A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

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
Adam3	G	T	8: 25,205,135 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,621,018 (GRCm39)	N3911S	probably benign	Het
Alox12b	C	T	11: 69,059,702 (GRCm39)	Q585*	probably null	Het
Amtn	A	G	5: 88,525,944 (GRCm39)	Q36R	probably benign	Het
Arg2	G	A	12: 79,196,665 (GRCm39)	G129S	probably damaging	Het
Arhgef28	A	C	13: 98,094,301 (GRCm39)	Y948D	probably damaging	Het
Atp10b	T	C	11: 43,138,304 (GRCm39)	V1195A	probably benign	Het
Bet1l	G	T	7: 140,434,523 (GRCm39)	T42K	probably benign	Het
Cabin1	G	A	10: 75,569,462 (GRCm39)	T875I	probably benign	Het
Ccdc17	A	G	4: 116,454,033 (GRCm39)		probably null	Het
Crebrf	A	G	17: 26,990,293 (GRCm39)	E612G	probably damaging	Het
Cyp2c67	A	T	19: 39,632,119 (GRCm39)	M83K	probably benign	Het
Dgkz	A	G	2: 91,771,204 (GRCm39)	S414P	probably damaging	Het
Dock10	G	T	1: 80,546,551 (GRCm39)	H411N	probably damaging	Het
Dpyd	A	T	3: 118,988,783 (GRCm39)	T749S	probably benign	Het
Dsc1	C	T	18: 20,219,701 (GRCm39)		probably null	Het
Echdc1	A	T	10: 29,198,276 (GRCm39)	M74L	probably damaging	Het
Edn1	C	A	13: 42,458,499 (GRCm39)	T104K	possibly damaging	Het
Fat2	T	A	11: 55,202,727 (GRCm39)	T116S	probably benign	Het
Fcrl5	A	T	3: 87,343,190 (GRCm39)		probably null	Het
Fpgt	C	T	3: 154,792,759 (GRCm39)	G423R	probably damaging	Het
Gprc5b	A	T	7: 118,583,416 (GRCm39)	V151E	probably damaging	Het
Grm5	A	G	7: 87,685,278 (GRCm39)	Y465C	probably damaging	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Ighmbp2	T	C	19: 3,323,022 (GRCm39)	K308R	possibly damaging	Het
Lrch1	A	T	14: 75,073,202 (GRCm39)	S146T	possibly damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mterf3	T	C	13: 67,078,221 (GRCm39)	K16R	probably damaging	Het
Ncapg	T	A	5: 45,853,010 (GRCm39)	H825Q	probably damaging	Het
Or2t1	G	A	14: 14,328,851 (GRCm38)	V247I	probably damaging	Het
Or2y1f	T	A	11: 49,184,988 (GRCm39)	I280N	probably damaging	Het
Or5b95	G	A	19: 12,658,287 (GRCm39)	V272M	possibly damaging	Het
Or5t15	A	C	2: 86,681,958 (GRCm39)	L28R	possibly damaging	Het
Or5w15	A	T	2: 87,568,462 (GRCm39)	S69T	probably benign	Het
Pald1	A	T	10: 61,182,884 (GRCm39)	M355K	probably benign	Het
Phc1	A	G	6: 122,300,428 (GRCm39)		probably benign	Het
Phkb	T	A	8: 86,745,095 (GRCm39)		probably benign	Het
Pkn3	G	T	2: 29,975,257 (GRCm39)	R506L	probably damaging	Het
Plod2	T	C	9: 92,455,620 (GRCm39)	Y100H	probably damaging	Het
Prl7b1	G	T	13: 27,790,918 (GRCm39)	Q56K	probably benign	Het
Rhot1	T	A	11: 80,133,407 (GRCm39)	C229*	probably null	Het
Sema3a	G	A	5: 13,649,456 (GRCm39)	R735Q	probably damaging	Het
Slc18b1	A	G	10: 23,702,557 (GRCm39)	*460W	probably null	Het
Slco6c1	T	A	1: 96,993,748 (GRCm39)		probably benign	Het
Slu7	T	A	11: 43,333,457 (GRCm39)	V359D	possibly damaging	Het
Suco	T	C	1: 161,662,049 (GRCm39)	Y794C	possibly damaging	Het
Sult3a2	T	C	10: 33,655,769 (GRCm39)	N70S	probably benign	Het
Taar2	A	T	10: 23,817,195 (GRCm39)	D245V	probably damaging	Het
Taf1d	A	G	9: 15,221,237 (GRCm39)	H181R	possibly damaging	Het
Tmem33	T	C	5: 67,421,139 (GRCm39)	S38P	probably damaging	Het
Traf3ip1	T	C	1: 91,450,609 (GRCm39)	S519P	probably benign	Het
Ttc12	T	C	9: 49,369,362 (GRCm39)	K253E	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
IGL01448:Or4d5	APN	9	40,012,378 (GRCm39)	missense	probably damaging	0.97
IGL02598:Or4d5	APN	9	40,011,861 (GRCm39)	missense	probably benign
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

2016-08-02