Mutagenetix > Incidental Mutation

Incidental Mutation 'R8884:Or13a18'

677167

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

068690-MU

Accession Numbers

Essential gene?

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

Stock #

R8884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140181253-140191037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140190616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 171 (P171L)

Ref Sequence

ENSEMBL: ENSMUSP00000147582 (fasta)

Gene Model

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

AlphaFold

Q8VGJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000072655
AA Change: P179L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072445
Gene: ENSMUSG00000093942
AA Change: P179L

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 damaging
Transcript: ENSMUST00000211771
AA Change: P171L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214180
AA Change: P171L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,354 (GRCm39)	F168Y	probably damaging	Het
4932438H23Rik	T	C	16: 90,852,737 (GRCm39)	Y133C	probably damaging	Het
Aasdh	A	G	5: 77,039,641 (GRCm39)	S223P	possibly damaging	Het
Abca8a	T	C	11: 109,964,941 (GRCm39)	D453G	possibly damaging	Het
Acsl6	T	A	11: 54,236,728 (GRCm39)	F541I	probably damaging	Het
Agfg1	A	T	1: 82,860,110 (GRCm39)	K326*	probably null	Het
Aldh1l2	T	C	10: 83,344,541 (GRCm39)	N448S	probably benign	Het
Alx4	A	G	2: 93,473,355 (GRCm39)	K118E	possibly damaging	Het
Atp9b	T	A	18: 80,838,562 (GRCm39)	T451S		Het
B4galt6	A	T	18: 20,822,072 (GRCm39)	N307K	probably benign	Het
Cacna1s	G	A	1: 136,042,981 (GRCm39)	M1569I	probably benign	Het
Cacng6	C	T	7: 3,478,984 (GRCm39)	T121I	probably damaging	Het
Cdc5l	C	A	17: 45,744,467 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 110,027,860 (GRCm39)	D535V	probably damaging	Het
Chrnb3	T	C	8: 27,883,946 (GRCm39)	F228L	possibly damaging	Het
Clca3a1	A	T	3: 144,719,757 (GRCm39)	D404E	probably benign	Het
Commd8	G	A	5: 72,325,514 (GRCm39)		probably benign	Het
Cpn1	T	A	19: 43,954,615 (GRCm39)	Q337L	possibly damaging	Het
Dctn6	T	C	8: 34,557,933 (GRCm39)	T180A	probably benign	Het
Ddx60	A	G	8: 62,447,553 (GRCm39)	E1180G	possibly damaging	Het
Dock4	T	A	12: 40,856,884 (GRCm39)	L1239Q	probably damaging	Het
Dop1b	T	C	16: 93,556,550 (GRCm39)	I469T	probably benign	Het
Enpep	A	T	3: 129,115,052 (GRCm39)	I240N	possibly damaging	Het
Fat3	G	A	9: 15,941,280 (GRCm39)	T1337I	probably damaging	Het
Fbxw13	T	A	9: 109,010,469 (GRCm39)	M390L	probably benign	Het
Fgr	C	T	4: 132,713,609 (GRCm39)	P46S	probably benign	Het
Galnt1	T	A	18: 24,400,641 (GRCm39)	M249K	probably benign	Het
Gm40460	A	T	7: 141,794,555 (GRCm39)	C87*	probably null	Het
Hcn4	C	T	9: 58,760,705 (GRCm39)	R417C	unknown	Het
Insr	T	C	8: 3,205,679 (GRCm39)	N1370S	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,414,089 (GRCm39)	E722K		Het
Larp6	G	A	9: 60,620,682 (GRCm39)	G65E		Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Muc16	G	A	9: 18,555,496 (GRCm39)	T3599I	unknown	Het
Muc5b	T	C	7: 141,403,156 (GRCm39)	F706L	unknown	Het
Nbea	A	T	3: 55,712,720 (GRCm39)	M2119K	probably benign	Het
Or13a24	A	T	7: 140,154,224 (GRCm39)	T53S	probably benign	Het
Paip1	G	A	13: 119,574,553 (GRCm39)	V83I	probably damaging	Het
Pdcd1lg2	G	T	19: 29,423,318 (GRCm39)		probably null	Het
Pde7a	G	A	3: 19,281,858 (GRCm39)	A464V	probably benign	Het
Pfkfb2	A	G	1: 130,634,213 (GRCm39)	F155L	probably damaging	Het
Pimreg	A	G	11: 71,936,513 (GRCm39)	D192G	possibly damaging	Het
Prkd3	T	C	17: 79,282,193 (GRCm39)	D320G	probably damaging	Het
Rgs7	A	G	1: 174,980,730 (GRCm39)	V98A	probably benign	Het
Ric3	C	T	7: 108,637,688 (GRCm39)	G356D	probably benign	Het
Rsph4a	T	C	10: 33,781,840 (GRCm39)		probably benign	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sez6l	T	C	5: 112,622,910 (GRCm39)	T214A	probably damaging	Het
Sipa1l1	T	G	12: 82,409,871 (GRCm39)	V595G	probably damaging	Het
Spata31h1	T	A	10: 82,119,486 (GRCm39)	H4508L	probably damaging	Het
Spta1	G	T	1: 174,045,254 (GRCm39)		probably null	Het
Ssbp2	A	G	13: 91,836,989 (GRCm39)		probably benign	Het
Syne1	T	G	10: 5,181,822 (GRCm39)	Q4171P	possibly damaging	Het
Tgfb2	G	A	1: 186,364,907 (GRCm39)	T232I	probably damaging	Het
Tmem175	A	G	5: 108,794,327 (GRCm39)	S486G	probably benign	Het
Tmprss15	A	G	16: 78,821,657 (GRCm39)	V466A	probably benign	Het
Treh	C	G	9: 44,595,800 (GRCm39)		probably benign	Het
Ttc14	A	G	3: 33,854,696 (GRCm39)	S8G	unknown	Het
Ttc32	T	A	12: 9,088,083 (GRCm39)	D103E	probably benign	Het
Vmn1r44	T	C	6: 89,870,458 (GRCm39)	L68P	probably damaging	Het
Vmn2r37	T	G	7: 9,218,916 (GRCm39)	L489F	probably benign	Het
Vmn2r52	T	A	7: 9,892,734 (GRCm39)	T802S	probably damaging	Het
Wsb2	T	A	5: 117,508,769 (GRCm39)	F68I	probably benign	Het
Zbtb8os	T	C	4: 129,236,924 (GRCm39)	V113A	probably benign	Het
Zfp354a	A	T	11: 50,950,805 (GRCm39)		probably benign	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	140,190,178 (GRCm39)	missense	possibly damaging	0.89
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
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'- ACCATCTCCTTCAAAGGGTGC -3'
(R):5'- GCAGGATGCTGGCAATGATG -3'

Sequencing Primer
(F):5'- TCCTTCAAAGGGTGCATGAC -3'
(R):5'- TGATGCAGCCATAGGATAGC -3'

Posted On

2021-08-02