Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02927:Or13a19'

363914

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or13a19

Ensembl Gene

ENSMUSG00000061489

Gene Name

olfactory receptor family 13 subfamily A member 19

Synonyms

Olfr525, MOR251-2, GA_x6K02T2PBJ9-42472898-42473827

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL02927

Quality Score

Status

Chromosome

Chromosomal Location

139902614-139903543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139902654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 14 (L14Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078103] [ENSMUST00000214594]

AlphaFold

Q8VGL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000078103
AA Change: L14Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077243
Gene: ENSMUSG00000061489
AA Change: L14Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.1e-53	PFAM
Pfam:7TM_GPCR_Srsx	35	260	1.5e-5	PFAM
Pfam:7tm_1	41	290	1.3e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214594
AA Change: L14Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215542

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	G	A	17: 48,347,729 (GRCm39)	Q192*	probably null	Het
Actl7b	C	A	4: 56,740,609 (GRCm39)	D250Y	probably damaging	Het
Akr1a1	T	A	4: 116,495,180 (GRCm39)	N273I	probably damaging	Het
Arhgap32	T	A	9: 32,172,431 (GRCm39)	I1737N	possibly damaging	Het
Cant1	T	C	11: 118,301,888 (GRCm39)	D143G	probably benign	Het
Cast	T	A	13: 74,885,113 (GRCm39)	D295V	probably damaging	Het
Cdh1	A	G	8: 107,395,143 (GRCm39)	N851D	probably damaging	Het
Cntn1	G	A	15: 92,189,561 (GRCm39)	R628H	probably benign	Het
Cul4a	A	G	8: 13,174,861 (GRCm39)	D279G	possibly damaging	Het
Cyp2s1	T	C	7: 25,507,577 (GRCm39)	K291E	probably benign	Het
Dhx35	A	T	2: 158,662,336 (GRCm39)	I205F	probably damaging	Het
Dpp8	G	T	9: 64,967,551 (GRCm39)	R518L	probably benign	Het
Gm9	A	G	X: 36,474,207 (GRCm39)	I34T	possibly damaging	Het
Hmcn1	A	T	1: 150,453,029 (GRCm39)	C5429S	probably damaging	Het
Iqgap2	A	C	13: 95,861,184 (GRCm39)	L314R	possibly damaging	Het
Itgav	A	C	2: 83,625,884 (GRCm39)	Y810S	probably damaging	Het
Kcng4	G	T	8: 120,353,061 (GRCm39)	P283Q	probably benign	Het
Lrrn3	T	A	12: 41,503,343 (GRCm39)	I325F	probably damaging	Het
Lzts3	A	G	2: 130,479,877 (GRCm39)		probably benign	Het
Marchf7	T	C	2: 60,067,262 (GRCm39)	I594T	probably damaging	Het
Matn2	A	T	15: 34,355,801 (GRCm39)	I269F	probably damaging	Het
Matn4	A	G	2: 164,231,757 (GRCm39)	F591S	probably damaging	Het
Mknk1	C	T	4: 115,714,288 (GRCm39)	R20C	probably damaging	Het
Mrgbp	T	C	2: 180,226,272 (GRCm39)	V115A	probably damaging	Het
Mrgprb8	C	T	7: 48,038,373 (GRCm39)	Q15*	probably null	Het
Naa38	T	C	11: 69,286,743 (GRCm39)	L9P	probably damaging	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Or2y3	T	A	17: 38,393,114 (GRCm39)	M252L	probably benign	Het
Or9i2	G	A	19: 13,816,288 (GRCm39)	T83I	probably benign	Het
Pkd1	A	G	17: 24,794,163 (GRCm39)	N1950S	probably damaging	Het
Plagl2	A	G	2: 153,074,199 (GRCm39)	L234P	probably damaging	Het
Psmb11	C	T	14: 54,863,108 (GRCm39)	R109W	probably damaging	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Rsbn1	A	G	3: 103,869,668 (GRCm39)	T710A	probably benign	Het
Shld2	T	C	14: 33,989,658 (GRCm39)	Y416C	probably damaging	Het
Slitrk4	A	G	X: 63,314,933 (GRCm39)	I578T	possibly damaging	Het
Srgap1	T	C	10: 121,691,367 (GRCm39)	Y289C	probably damaging	Het
Stxbp2	A	G	8: 3,692,685 (GRCm39)	D579G	possibly damaging	Het
Tg	T	C	15: 66,549,942 (GRCm39)	Y235H	probably damaging	Het
Thbs3	A	G	3: 89,127,514 (GRCm39)	N385S	probably damaging	Het
Trmo	A	G	4: 46,387,602 (GRCm39)	S80P	probably damaging	Het
Ubc	T	C	5: 125,463,201 (GRCm39)	K709E	probably benign	Het
Vstm4	C	T	14: 32,659,745 (GRCm39)	P296S	probably damaging	Het
Wdr11	G	A	7: 129,208,822 (GRCm39)		probably null	Het
Wdr19	T	C	5: 65,409,721 (GRCm39)	I1153T	possibly damaging	Het
Xpo6	T	C	7: 125,755,901 (GRCm39)	E213G	possibly damaging	Het
Zxdc	A	C	6: 90,349,544 (GRCm39)	T311P	probably damaging	Het

Other mutations in Or13a19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02143:Or13a19	APN	7	139,903,505 (GRCm39)	nonsense	probably null
IGL02450:Or13a19	APN	7	139,903,140 (GRCm39)	missense	possibly damaging	0.95
IGL03008:Or13a19	APN	7	139,903,445 (GRCm39)	missense	probably damaging	1.00
IGL03202:Or13a19	APN	7	139,903,019 (GRCm39)	missense	possibly damaging	0.96
R0268:Or13a19	UTSW	7	139,903,068 (GRCm39)	missense	possibly damaging	0.63
R0612:Or13a19	UTSW	7	139,903,101 (GRCm39)	missense	possibly damaging	0.63
R0751:Or13a19	UTSW	7	139,903,238 (GRCm39)	missense	probably benign
R0801:Or13a19	UTSW	7	139,902,831 (GRCm39)	missense	probably damaging	1.00
R0940:Or13a19	UTSW	7	139,903,065 (GRCm39)	missense	probably benign	0.01
R2220:Or13a19	UTSW	7	139,903,484 (GRCm39)	missense	probably benign	0.03
R3748:Or13a19	UTSW	7	139,903,041 (GRCm39)	missense	possibly damaging	0.87
R4660:Or13a19	UTSW	7	139,903,325 (GRCm39)	missense	possibly damaging	0.67
R4683:Or13a19	UTSW	7	139,902,681 (GRCm39)	missense	probably benign	0.01
R4887:Or13a19	UTSW	7	139,903,014 (GRCm39)	missense	probably benign
R4919:Or13a19	UTSW	7	139,903,427 (GRCm39)	nonsense	probably null
R5097:Or13a19	UTSW	7	139,903,008 (GRCm39)	missense	probably damaging	1.00
R5836:Or13a19	UTSW	7	139,902,827 (GRCm39)	missense	probably benign
R7024:Or13a19	UTSW	7	139,902,759 (GRCm39)	missense	possibly damaging	0.75
R8242:Or13a19	UTSW	7	139,902,696 (GRCm39)	nonsense	probably null
R8390:Or13a19	UTSW	7	139,903,027 (GRCm39)	missense	possibly damaging	0.56
R8739:Or13a19	UTSW	7	139,902,647 (GRCm39)	missense	probably damaging	1.00
R8813:Or13a19	UTSW	7	139,902,793 (GRCm39)	nonsense	probably null
R8876:Or13a19	UTSW	7	139,902,716 (GRCm39)	missense	probably damaging	1.00
R8988:Or13a19	UTSW	7	139,902,938 (GRCm39)	missense	possibly damaging	0.87
R9044:Or13a19	UTSW	7	139,902,485 (GRCm39)	splice site	probably benign
R9176:Or13a19	UTSW	7	139,903,121 (GRCm39)	missense	probably damaging	1.00
R9626:Or13a19	UTSW	7	139,903,236 (GRCm39)	missense	probably benign	0.06

Posted On

2015-12-18