Mutagenetix > Incidental Mutation

Incidental Mutation 'R4110:Or13a18'

317254

Institutional Source

Beutler Lab

Gene Symbol

Or13a18

Ensembl Gene

ENSMUSG00000093942

Gene Name

olfactory receptor family 13 subfamily A member 18

Synonyms

IB7, IF5, ID12, GA_x6K02T2PBJ9-42759973-42760905, Olfr46, MOR253-8

MMRRC Submission

040988-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R4110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140181253-140191037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140190178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 33 (L33Q)

Ref Sequence

ENSEMBL: ENSMUSP00000072445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072655] [ENSMUST00000211771] [ENSMUST00000214180]

AlphaFold

Q8VGJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072655
AA Change: L33Q

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072445
Gene: ENSMUSG00000093942
AA Change: L33Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	315	1.1e-50	PFAM
Pfam:7TM_GPCR_Srsx	43	209	5.9e-8	PFAM
Pfam:7tm_1	49	298	3.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211771
AA Change: L25Q

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000214180
AA Change: L25Q

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.3%
20x: 95.6%

Validation Efficiency

100% (61/61)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Acot10	A	T	15: 20,666,612 (GRCm39)	L43Q	probably damaging	Het
Alms1	G	A	6: 85,597,870 (GRCm39)	V1368I	probably benign	Het
Als2cl	T	C	9: 110,713,115 (GRCm39)	S2P	probably benign	Het
AW209491	T	C	13: 14,812,158 (GRCm39)	V337A	probably damaging	Het
Bace2	A	G	16: 97,237,856 (GRCm39)	T436A	probably benign	Het
BC023105	A	G	18: 60,575,356 (GRCm39)		noncoding transcript	Het
Blvra	T	C	2: 126,937,075 (GRCm39)	V176A	probably damaging	Het
Casp2	G	A	6: 42,244,828 (GRCm39)	A76T	probably damaging	Het
Ccdc88c	A	G	12: 100,911,332 (GRCm39)	L34P	probably damaging	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Col6a2	T	A	10: 76,442,003 (GRCm39)		probably null	Het
Cse1l	T	C	2: 166,783,970 (GRCm39)	Y488H	probably benign	Het
Dip2c	G	T	13: 9,687,137 (GRCm39)	G1254C	probably damaging	Het
Dnajb12	T	A	10: 59,730,136 (GRCm39)	S270R	possibly damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Dscaml1	G	A	9: 45,643,366 (GRCm39)	A1262T	probably benign	Het
Dtwd2	A	C	18: 49,831,373 (GRCm39)		probably benign	Het
Fadd	C	A	7: 144,134,488 (GRCm39)	K132N	possibly damaging	Het
Fndc3c1	T	C	X: 105,487,897 (GRCm39)	N462S	probably benign	Het
Fzd3	A	G	14: 65,472,616 (GRCm39)	V384A	probably benign	Het
Gm6370	T	C	5: 146,430,702 (GRCm39)	S296P	probably benign	Het
Gsdmc	T	A	15: 63,651,876 (GRCm39)	H245L	probably benign	Het
H13	T	C	2: 152,523,029 (GRCm39)	I114T	probably damaging	Het
Hhipl2	A	G	1: 183,204,920 (GRCm39)	R78G	probably benign	Het
Hrh3	C	A	2: 179,744,643 (GRCm39)	R99L	possibly damaging	Het
Ldc1	A	T	4: 130,112,967 (GRCm39)	L143Q	probably damaging	Het
Man2c1	A	G	9: 57,044,055 (GRCm39)	N330S	probably damaging	Het
Muc19	T	A	15: 91,781,816 (GRCm39)		noncoding transcript	Het
Myh14	T	G	7: 44,277,974 (GRCm39)	M1092L	probably benign	Het
Neb	A	G	2: 52,038,778 (GRCm39)	I2899T	probably benign	Het
Neb	T	A	2: 52,134,137 (GRCm39)	Q3282L	probably damaging	Het
Nqo2	A	T	13: 34,163,620 (GRCm39)	Q93L	probably benign	Het
Or4a2	C	A	2: 89,248,444 (GRCm39)	L104F	probably benign	Het
Or51i2	T	C	7: 103,689,609 (GRCm39)	V202A	probably damaging	Het
Pcsk1	A	G	13: 75,244,488 (GRCm39)	N122S	probably damaging	Het
Pdzrn4	A	G	15: 92,668,745 (GRCm39)	I966V	probably benign	Het
Phldb1	G	A	9: 44,627,128 (GRCm39)	T439I	possibly damaging	Het
Pign	A	G	1: 105,481,540 (GRCm39)		probably benign	Het
Pkn1	A	T	8: 84,417,828 (GRCm39)	D120E	probably benign	Het
Ptpru	A	G	4: 131,546,348 (GRCm39)	Y301H	probably damaging	Het
Raly	C	T	2: 154,699,378 (GRCm39)	Q61*	probably null	Het
Rpl24	T	C	16: 55,791,723 (GRCm39)	V148A	probably benign	Het
S100a16	A	G	3: 90,449,379 (GRCm39)	N18S	probably damaging	Het
Sec31b	G	T	19: 44,512,968 (GRCm39)	T507N	possibly damaging	Het
Sgca	T	C	11: 94,863,396 (GRCm39)	T27A	possibly damaging	Het
Slc22a12	C	A	19: 6,590,658 (GRCm39)	R203L	probably damaging	Het
Ssbp3	C	A	4: 106,904,393 (GRCm39)		probably benign	Het
Sucnr1	C	G	3: 59,994,215 (GRCm39)	R248G	probably damaging	Het
Tbr1	C	T	2: 61,642,076 (GRCm39)	P184L	probably benign	Het
Thsd7b	A	T	1: 130,044,356 (GRCm39)	D1112V	probably benign	Het
Tnc	A	G	4: 63,933,188 (GRCm39)	V692A	probably damaging	Het
Top2a	C	A	11: 98,913,786 (GRCm39)	K18N	probably damaging	Het
Topbp1	G	T	9: 103,187,158 (GRCm39)	R121L	probably damaging	Het
Unc79	T	C	12: 103,025,629 (GRCm39)	C339R	probably damaging	Het
Wdfy3	C	T	5: 102,047,924 (GRCm39)		probably null	Het
Zbtb3	G	C	19: 8,780,384 (GRCm39)		probably benign	Het
Zfp715	T	A	7: 42,947,304 (GRCm39)	K885N	possibly damaging	Het

Other mutations in Or13a18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Or13a18	APN	7	140,190,666 (GRCm39)	missense	probably damaging	1.00
IGL02408:Or13a18	APN	7	140,190,844 (GRCm39)	missense	probably damaging	1.00
IGL02496:Or13a18	APN	7	140,190,081 (GRCm39)	start codon destroyed	probably benign
IGL03003:Or13a18	APN	7	140,190,283 (GRCm39)	missense	probably damaging	1.00
R0538:Or13a18	UTSW	7	140,190,297 (GRCm39)	missense	probably damaging	1.00
R1350:Or13a18	UTSW	7	140,190,622 (GRCm39)	missense	probably damaging	0.96
R1466:Or13a18	UTSW	7	140,190,882 (GRCm39)	missense	probably benign	0.01
R1466:Or13a18	UTSW	7	140,190,882 (GRCm39)	missense	probably benign	0.01
R2008:Or13a18	UTSW	7	140,190,498 (GRCm39)	missense	probably damaging	1.00
R4110:Or13a18	UTSW	7	140,190,177 (GRCm39)	missense	probably benign	0.20
R4255:Or13a18	UTSW	7	140,190,500 (GRCm39)	nonsense	probably null
R4622:Or13a18	UTSW	7	140,190,611 (GRCm39)	nonsense	probably null
R4809:Or13a18	UTSW	7	140,190,987 (GRCm39)	missense	probably damaging	0.98
R4826:Or13a18	UTSW	7	140,190,232 (GRCm39)	missense	probably benign	0.02
R4989:Or13a18	UTSW	7	140,190,304 (GRCm39)	missense	possibly damaging	0.95
R5177:Or13a18	UTSW	7	140,190,102 (GRCm39)	missense	probably benign	0.00
R5261:Or13a18	UTSW	7	140,190,576 (GRCm39)	missense	probably benign	0.00
R5770:Or13a18	UTSW	7	140,190,856 (GRCm39)	missense	probably damaging	1.00
R5863:Or13a18	UTSW	7	140,190,544 (GRCm39)	missense	probably damaging	0.97
R6082:Or13a18	UTSW	7	140,190,594 (GRCm39)	missense	probably benign	0.00
R6705:Or13a18	UTSW	7	140,190,697 (GRCm39)	missense	probably damaging	0.99
R7216:Or13a18	UTSW	7	140,190,373 (GRCm39)	missense	possibly damaging	0.87
R7443:Or13a18	UTSW	7	140,190,961 (GRCm39)	missense	probably damaging	1.00
R7485:Or13a18	UTSW	7	140,190,091 (GRCm39)	missense	probably benign	0.02
R7806:Or13a18	UTSW	7	140,190,685 (GRCm39)	missense	probably benign	0.00
R8373:Or13a18	UTSW	7	140,190,208 (GRCm39)	missense	possibly damaging	0.88
R8884:Or13a18	UTSW	7	140,190,616 (GRCm39)	missense	probably damaging	1.00
R9278:Or13a18	UTSW	7	140,190,936 (GRCm39)	missense	probably damaging	1.00
R9595:Or13a18	UTSW	7	140,190,939 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GATGAGAGCCTTCGCAGATG -3'
(R):5'- GTTTTCCTCAGACAGTAGACCAACC -3'

Sequencing Primer
(F):5'- GAGCCTTCGCAGATGTAAATAC -3'
(R):5'- GTAGACCAACCAGCGCCTTG -3'

Posted On

2015-05-15