Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01614:Olfr644'

92321

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr644

Ensembl Gene

ENSMUSG00000110012

Gene Name

olfactory receptor 644

Synonyms

GA_x6K02T2PBJ9-6803062-6802118, MOR13-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL01614

Quality Score

Status

Chromosome

Chromosomal Location

104066289-104071869 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104068369 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 221 (V221I)

Ref Sequence

ENSEMBL: ENSMUSP00000149600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077417] [ENSMUST00000138055] [ENSMUST00000213184] [ENSMUST00000213991]

Predicted Effect

probably benign
Transcript: ENSMUST00000077417
AA Change: V221I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000076633
Gene: ENSMUSG00000110012
AA Change: V221I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	2e-122	PFAM
Pfam:7TM_GPCR_Srsx	37	256	5.9e-8	PFAM
Pfam:7tm_1	43	294	1.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213184
AA Change: V221I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000213991
AA Change: V221I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	T	A	17: 43,424,471	S143T	possibly damaging	Het
Arhgap32	G	T	9: 32,260,505	S1527I	probably damaging	Het
Atp8a2	A	G	14: 60,044,988	V128A	probably damaging	Het
Bpi	T	C	2: 158,271,946	F255L	probably damaging	Het
Clptm1	A	T	7: 19,637,700	D269E	probably benign	Het
E2f7	T	C	10: 110,759,978	V63A	probably damaging	Het
Eif4e1b	T	A	13: 54,786,916	I184N	probably damaging	Het
Fam49a	T	C	12: 12,361,573		probably null	Het
Gal3st1	T	A	11: 3,998,996	L401Q	probably damaging	Het
Gm7808	G	A	9: 19,928,146		probably benign	Het
Hdac5	G	A	11: 102,200,028	T741I	probably benign	Het
Ipo5	A	G	14: 120,935,095	T522A	probably benign	Het
Lama5	A	C	2: 180,180,864	F2832V	probably damaging	Het
Ltk	A	C	2: 119,753,487	L230R	probably damaging	Het
Mettl14	A	T	3: 123,373,960		probably benign	Het
Myom1	T	C	17: 71,126,178	F1507L	possibly damaging	Het
Nsd3	T	A	8: 25,666,079	I554K	possibly damaging	Het
Olfr1044	A	T	2: 86,171,397	I140N	possibly damaging	Het
Olfr107	G	A	17: 37,405,638	C30Y	probably benign	Het
Olfr340	T	G	2: 36,452,624	I13S	probably benign	Het
Prr14	T	A	7: 127,475,133	L279H	probably damaging	Het
Rbm25	G	T	12: 83,659,567	D229Y	probably damaging	Het
Sdk2	T	C	11: 113,793,858	K1926E	probably damaging	Het
Slc25a23	C	T	17: 57,045,579	R435Q	probably null	Het
Srebf2	A	G	15: 82,178,853	N457S	probably benign	Het
Stac2	T	C	11: 98,052,948	D12G	probably benign	Het
Tal1	A	C	4: 115,063,128		probably null	Het
Usp25	G	A	16: 77,077,117	R527Q	probably damaging	Het

Other mutations in Olfr644

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02937:Olfr644	APN	7	104068849	missense	probably damaging	0.99
IGL03188:Olfr644	APN	7	104068738	missense	possibly damaging	0.89
FR4737:Olfr644	UTSW	7	104071292	start gained	probably benign
R0467:Olfr644	UTSW	7	104068125	missense	probably benign	0.07
R1310:Olfr644	UTSW	7	104068598	missense	probably benign
R1457:Olfr644	UTSW	7	104068459	missense	probably damaging	1.00
R1619:Olfr644	UTSW	7	104068531	missense	probably damaging	1.00
R1874:Olfr644	UTSW	7	104068129	missense	probably null	1.00
R2428:Olfr644	UTSW	7	104068468	nonsense	probably null
R2922:Olfr644	UTSW	7	104068587	missense	probably benign	0.09
R2923:Olfr644	UTSW	7	104068587	missense	probably benign	0.09
R3929:Olfr644	UTSW	7	104068584	missense	probably benign	0.06
R4500:Olfr644	UTSW	7	104068195	missense	probably damaging	1.00
R5035:Olfr644	UTSW	7	104068407	missense	possibly damaging	0.95
R5303:Olfr644	UTSW	7	104069032	utr 5 prime	probably benign
R5464:Olfr644	UTSW	7	104068467	missense	possibly damaging	0.72
R5722:Olfr644	UTSW	7	104068723	missense	probably damaging	1.00
R5742:Olfr644	UTSW	7	104068205	missense	probably damaging	0.97
R6874:Olfr644	UTSW	7	104068189	missense	possibly damaging	0.50
R6940:Olfr644	UTSW	7	104068413	missense	possibly damaging	0.82
R7848:Olfr644	UTSW	7	104068095	missense	probably benign
R8343:Olfr644	UTSW	7	104068176	missense	probably damaging	1.00

Posted On

2013-12-09