Mutagenetix > Incidental Mutation

Incidental Mutation 'R8739:Or13a19'

663225

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

068586-MU

Accession Numbers

Essential gene?

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

Stock #

R8739 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139902614-139903543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139902647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 12 (F12L)

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: F12L

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

SMART Domains

Protein: ENSMUSP00000077243
Gene: ENSMUSG00000061489
AA Change: F12L

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: F12L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	T	C	8: 41,133,480 (GRCm39)	V316A	possibly damaging	Het
Adamts9	T	C	6: 92,831,261 (GRCm39)	E1364G	probably benign	Het
Agrn	C	T	4: 156,257,045 (GRCm39)	R1233Q	probably benign	Het
Ankrd6	A	G	4: 32,806,337 (GRCm39)	S639P	possibly damaging	Het
Arid5a	A	G	1: 36,358,677 (GRCm39)	N418S	probably benign	Het
Cep152	T	C	2: 125,461,975 (GRCm39)	E69G	probably benign	Het
Chrnb2	A	G	3: 89,669,746 (GRCm39)	S109P	probably damaging	Het
Chuk	A	G	19: 44,077,135 (GRCm39)	S404P	probably benign	Het
Clec4a3	T	C	6: 122,944,508 (GRCm39)	Y185H	probably damaging	Het
Dctd	T	A	8: 48,591,883 (GRCm39)	L149H	probably benign	Het
Dgkb	T	A	12: 38,278,323 (GRCm39)		probably benign	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dnah5	G	A	15: 28,346,006 (GRCm39)	A2449T	probably benign	Het
Dync1h1	T	C	12: 110,581,014 (GRCm39)	V247A	probably damaging	Het
Eef1ece2	G	A	16: 20,449,665 (GRCm39)		probably benign	Het
Espnl	T	A	1: 91,272,317 (GRCm39)	L559Q	probably damaging	Het
Gak	A	G	5: 108,739,604 (GRCm39)	V627A	possibly damaging	Het
Gcnt1	A	T	19: 17,307,437 (GRCm39)	M96K	probably benign	Het
Ggta1	T	C	2: 35,292,572 (GRCm39)	D245G	probably damaging	Het
Hfm1	A	T	5: 107,046,371 (GRCm39)	F505Y	probably damaging	Het
Inpp4a	A	G	1: 37,422,207 (GRCm39)		probably benign	Het
Kcnj14	C	G	7: 45,468,812 (GRCm39)	R231P	probably damaging	Het
Lamc2	A	T	1: 153,020,399 (GRCm39)	C382*	probably null	Het
Marveld3	T	C	8: 110,688,609 (GRCm39)	E44G	possibly damaging	Het
Mettl17	T	C	14: 52,128,848 (GRCm39)	F373L	possibly damaging	Het
Morc3	T	A	16: 93,657,398 (GRCm39)	L374Q	probably damaging	Het
Muc16	C	T	9: 18,548,594 (GRCm39)	D5900N	probably benign	Het
Myo15a	A	G	11: 60,368,088 (GRCm39)	N283D	probably benign	Het
Ncapg2	T	G	12: 116,379,098 (GRCm39)	D197E	possibly damaging	Het
Nipbl	T	C	15: 8,332,904 (GRCm39)	T2240A	probably benign	Het
Nrip1	A	C	16: 76,088,236 (GRCm39)	V1107G	possibly damaging	Het
Or4d5	G	A	9: 40,012,636 (GRCm39)	T50I	probably benign	Het
Or4f52	C	A	2: 111,061,834 (GRCm39)	M101I	probably benign	Het
Pcdhb11	T	A	18: 37,555,549 (GRCm39)	I293K	probably damaging	Het
Pcsk5	G	T	19: 17,432,138 (GRCm39)	H1492Q	probably benign	Het
Pdcd4	T	A	19: 53,899,405 (GRCm39)	Y131*	probably null	Het
Pdf	T	A	8: 107,773,796 (GRCm39)	M216L	probably damaging	Het
Pira13	A	T	7: 3,828,188 (GRCm39)	S40T		Het
Plch1	T	C	3: 63,778,106 (GRCm39)	H17R	possibly damaging	Het
Prkdc	T	G	16: 15,626,068 (GRCm39)	S3365A	probably benign	Het
Rab3c	T	C	13: 110,397,135 (GRCm39)	T44A	probably damaging	Het
Rad17	T	C	13: 100,765,998 (GRCm39)	T377A	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf215	T	G	11: 4,085,959 (GRCm39)		probably null	Het
Sec31b	G	A	19: 44,507,620 (GRCm39)	T808I	probably benign	Het
Selenbp1	A	T	3: 94,844,601 (GRCm39)	D86V	probably damaging	Het
Smurf2	G	T	11: 106,743,322 (GRCm39)	Y241*	probably null	Het
Spint1	T	C	2: 119,079,286 (GRCm39)	V456A	possibly damaging	Het
Spmap2	G	T	10: 79,419,581 (GRCm39)	N240K	possibly damaging	Het
Stx5a	A	T	19: 8,725,924 (GRCm39)	I175F	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tfb1m	T	C	17: 3,569,927 (GRCm39)	E313G	probably benign	Het
Thrb	A	G	14: 17,963,082 (GRCm38)	D15G	probably benign	Het
Tln2	T	C	9: 67,165,555 (GRCm39)	K1045R	probably damaging	Het
Tmx2	T	C	2: 84,505,745 (GRCm39)		probably benign	Het
Trabd	T	C	15: 88,969,152 (GRCm39)	I192T	probably damaging	Het
Try5	T	A	6: 41,288,637 (GRCm39)	D194V	probably damaging	Het
Ttc21a	A	G	9: 119,796,371 (GRCm39)	N1263S	probably benign	Het
Ttll13	T	C	7: 79,902,923 (GRCm39)	I197T	probably damaging	Het
Virma	T	C	4: 11,540,643 (GRCm39)		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
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
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'- TCATGCTCACACTGTCACAC -3'
(R):5'- ACAGACGATGTCCAACAGGG -3'

Sequencing Primer
(F):5'- CACTGTCACACTGTGTTGAGAG -3'
(R):5'- TCCAACAGGGCCAGGTTTG -3'

Posted On

2021-03-08