Mutagenetix > Incidental Mutation

Incidental Mutation 'R2220:Or13a19'

241429

Institutional Source

Beutler Lab

Gene Symbol

Or13a19

Ensembl Gene

ENSMUSG00000061489

Gene Name

olfactory receptor family 13 subfamily A member 19

Synonyms

Olfr525, MOR251-2, GA_x6K02T2PBJ9-42472898-42473827

MMRRC Submission

040222-MU

Accession Numbers

Essential gene?

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

Stock #

R2220 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139902614-139903543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139903484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 291 (S291P)

Ref Sequence

ENSEMBL: ENSMUSP00000149361 (fasta)

Gene Model

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

AlphaFold

Q8VGL5

Predicted Effect

probably benign
Transcript: ENSMUST00000078103
AA Change: S291P

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000077243
Gene: ENSMUSG00000061489
AA Change: S291P

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 benign
Transcript: ENSMUST00000214594
AA Change: S291P

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215542

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,344,572 (GRCm39)	I116T	probably damaging	Het
Aatk	G	T	11: 119,903,003 (GRCm39)	F407L	probably damaging	Het
Abca8a	A	T	11: 109,917,681 (GRCm39)	L1586Q	probably damaging	Het
Aox1	A	G	1: 58,388,289 (GRCm39)		probably null	Het
Ap5m1	A	G	14: 49,318,552 (GRCm39)	D420G	probably damaging	Het
Bcl6	A	T	16: 23,791,382 (GRCm39)	L324*	probably null	Het
Bicc1	A	G	10: 70,785,955 (GRCm39)	S396P	probably damaging	Het
Bltp1	T	C	3: 36,929,679 (GRCm39)		probably null	Het
Ccdc83	G	A	7: 89,908,722 (GRCm39)	S4L	probably damaging	Het
Cdkal1	T	A	13: 29,538,741 (GRCm39)	M473L	probably benign	Het
Cep85	T	C	4: 133,881,178 (GRCm39)	H363R	probably damaging	Het
Cfap61	G	A	2: 145,878,736 (GRCm39)		probably null	Het
Cfap65	T	C	1: 74,943,184 (GRCm39)	I1614V	probably damaging	Het
Cluh	T	A	11: 74,557,947 (GRCm39)	F1062I	probably damaging	Het
Cntnap5a	A	T	1: 116,508,369 (GRCm39)	T1294S	possibly damaging	Het
Cops8	A	C	1: 90,534,341 (GRCm39)	N94T	probably benign	Het
Csmd1	T	C	8: 16,042,641 (GRCm39)	D2364G	possibly damaging	Het
Cyb5d1	T	C	11: 69,285,871 (GRCm39)	D55G	probably benign	Het
Cyp2c29	A	T	19: 39,275,676 (GRCm39)	I39F	probably benign	Het
Cyp2j8	T	C	4: 96,332,862 (GRCm39)	S495G	probably benign	Het
Dhx30	A	G	9: 109,916,703 (GRCm39)	L575P	probably damaging	Het
Dnah7a	C	T	1: 53,560,333 (GRCm39)	V2113I	probably benign	Het
Dusp3	T	C	11: 101,865,631 (GRCm39)	N95D	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fer1l4	T	G	2: 155,873,684 (GRCm39)	Y1207S	probably damaging	Het
Flg2	T	G	3: 93,109,492 (GRCm39)	S507A	unknown	Het
Gdf6	A	G	4: 9,844,770 (GRCm39)	H98R	probably damaging	Het
Ggnbp2	T	C	11: 84,727,439 (GRCm39)	N63S	possibly damaging	Het
Ggt7	A	G	2: 155,337,639 (GRCm39)	S504P	probably damaging	Het
Gtf2h5	G	A	17: 6,134,853 (GRCm39)	E48K	probably benign	Het
Hivep3	T	G	4: 119,591,235 (GRCm39)	V81G	possibly damaging	Het
Igsf21	A	G	4: 139,755,425 (GRCm39)	M410T	probably damaging	Het
Insrr	T	C	3: 87,716,725 (GRCm39)	L651P	probably damaging	Het
Iqcb1	A	T	16: 36,663,824 (GRCm39)		probably null	Het
Klhdc7a	G	A	4: 139,692,764 (GRCm39)	R728C	probably benign	Het
Lars2	T	C	9: 123,247,845 (GRCm39)	L334P	probably damaging	Het
Mast3	T	C	8: 71,233,607 (GRCm39)	E994G	probably damaging	Het
Mertk	T	A	2: 128,643,392 (GRCm39)	N930K	probably benign	Het
Mettl21a	A	T	1: 64,655,442 (GRCm39)	V46E	probably damaging	Het
Nedd4	T	A	9: 72,643,989 (GRCm39)	C614S	probably damaging	Het
Or2l13b	A	T	16: 19,348,895 (GRCm39)	Y258*	probably null	Het
Or5k1	G	T	16: 58,617,987 (GRCm39)	A74D	possibly damaging	Het
Pard3b	C	T	1: 62,518,842 (GRCm39)	R976*	probably null	Het
Pcdhb16	A	G	18: 37,612,020 (GRCm39)	T327A	probably benign	Het
Pira12	A	T	7: 3,900,488 (GRCm39)	N87K	probably benign	Het
Ppp1r37	C	A	7: 19,266,371 (GRCm39)	R465L	probably null	Het
Ppp3ca	C	A	3: 136,503,685 (GRCm39)	T86K	probably damaging	Het
Ralgapa2	G	A	2: 146,263,599 (GRCm39)	T706I	probably benign	Het
Rnf213	T	C	11: 119,327,254 (GRCm39)	L1747P	possibly damaging	Het
Slc11a1	T	A	1: 74,419,824 (GRCm39)	F166I	probably damaging	Het
Slc25a18	G	A	6: 120,770,518 (GRCm39)		probably null	Het
Stt3a	A	G	9: 36,660,847 (GRCm39)		probably null	Het
Supt16	G	A	14: 52,409,601 (GRCm39)	R770*	probably null	Het
Syde2	A	G	3: 145,707,713 (GRCm39)	I551V	probably benign	Het
Tasor2	A	T	13: 3,631,872 (GRCm39)	N876K	probably benign	Het
Tecta	T	C	9: 42,303,326 (GRCm39)	D102G	probably damaging	Het
Tmc7	A	T	7: 118,152,039 (GRCm39)	I294N	possibly damaging	Het
Tmem174	T	C	13: 98,773,767 (GRCm39)	Y21C	probably damaging	Het
Tomm40l	A	T	1: 171,049,550 (GRCm39)	L13*	probably null	Het
Trim30c	A	G	7: 104,032,474 (GRCm39)	V284A	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Uggt2	A	T	14: 119,312,749 (GRCm39)	N353K	probably damaging	Het
Vps13d	C	T	4: 144,904,890 (GRCm39)	V79M	probably damaging	Het
Wfdc18	C	T	11: 83,600,739 (GRCm39)	R45*	probably null	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
IGL02927:Or13a19	APN	7	139,902,654 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCATCATCACCAGCATCCTG -3'
(R):5'- ATGAGAGCACAGAAGATGTACATCC -3'

Sequencing Primer
(F):5'- GCATCCGCTCCACAGAG -3'
(R):5'- GCACAGAAGATGTACATCCATATG -3'

Posted On

2014-10-15