Mutagenetix > Incidental Mutation

Incidental Mutation 'R9017:Or13p8'

686059

Institutional Source

Beutler Lab

Gene Symbol

Or13p8

Ensembl Gene

ENSMUSG00000070821

Gene Name

olfactory receptor family 13 subfamily P member 8

Synonyms

MOR258-6, Olfr1340, GA_x6K02T2QD9B-18823451-18822504

MMRRC Submission

068847-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R9017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118582919-118584393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118583565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 40 (F40L)

Ref Sequence

ENSEMBL: ENSMUSP00000149563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094834] [ENSMUST00000213436] [ENSMUST00000216242] [ENSMUST00000217334]

AlphaFold

Q3KPC7

Predicted Effect

probably benign
Transcript: ENSMUST00000094834
AA Change: F40L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092430
Gene: ENSMUSG00000070821
AA Change: F40L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	4.4e-57	PFAM
Pfam:7tm_1	44	293	1.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213436
AA Change: F40L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216242
AA Change: F40L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000217334
AA Change: F40L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,553,211 (GRCm39)	T629A	probably benign	Het
Afg3l2	A	G	18: 67,542,550 (GRCm39)	V632A	possibly damaging	Het
Ahnak	G	A	19: 8,987,487 (GRCm39)	E2924K	probably damaging	Het
Ampd1	A	G	3: 102,995,786 (GRCm39)	Y232C	probably benign	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Atp8b4	A	T	2: 126,275,841 (GRCm39)	N130K	probably benign	Het
Cdh15	T	C	8: 123,584,256 (GRCm39)		probably null	Het
Cep70	T	C	9: 99,181,829 (GRCm39)	I613T	possibly damaging	Het
Cfap54	C	T	10: 92,651,883 (GRCm39)	V3056I	probably benign	Het
Chrna2	T	C	14: 66,386,282 (GRCm39)	F143L	probably benign	Het
Cmya5	C	T	13: 93,228,572 (GRCm39)	R2172H	probably benign	Het
Col17a1	T	C	19: 47,657,898 (GRCm39)	E424G	probably benign	Het
Crybg1	T	C	10: 43,880,477 (GRCm39)	E237G	probably benign	Het
Ctnnd2	G	A	15: 30,881,316 (GRCm39)	C732Y	probably damaging	Het
Dcaf12	T	C	4: 41,299,411 (GRCm39)	N264S	probably benign	Het
Dennd4c	A	G	4: 86,743,349 (GRCm39)	S1064G	probably benign	Het
Dsc2	A	T	18: 20,176,968 (GRCm39)	Y360N	probably damaging	Het
E2f3	T	G	13: 30,097,478 (GRCm39)	D295A	probably damaging	Het
Eef2	T	C	10: 81,015,487 (GRCm39)	L336P	possibly damaging	Het
Fanca	A	G	8: 124,035,307 (GRCm39)	S213P	possibly damaging	Het
Fpgt	A	T	3: 154,792,903 (GRCm39)	S375T	probably benign	Het
Gad1	G	A	2: 70,416,206 (GRCm39)	V222I	probably benign	Het
Gm5930	A	T	14: 44,568,858 (GRCm39)	Y255N	possibly damaging	Het
Gpr55	T	C	1: 85,868,624 (GRCm39)	N319S	probably benign	Het
Grik2	T	A	10: 48,989,555 (GRCm39)	I825F	possibly damaging	Het
Hcn4	T	C	9: 58,731,482 (GRCm39)	S230P	unknown	Het
Kansl3	T	C	1: 36,393,861 (GRCm39)	I222V	probably benign	Het
Kif20b	T	C	19: 34,927,203 (GRCm39)	S822P	probably benign	Het
Kremen2	T	A	17: 23,964,737 (GRCm39)		probably benign	Het
Krt71	G	T	15: 101,651,100 (GRCm39)	R128S	possibly damaging	Het
Lrp4	A	T	2: 91,324,397 (GRCm39)	N1244I	possibly damaging	Het
Lrrc66	T	C	5: 73,765,244 (GRCm39)	S600G	possibly damaging	Het
Mrc2	T	A	11: 105,216,711 (GRCm39)	C167S	probably damaging	Het
Mrps17	T	C	5: 129,793,857 (GRCm39)	V17A	probably damaging	Het
Muc20	A	T	16: 32,614,840 (GRCm39)	L179Q	unknown	Het
Or13g1	A	T	7: 85,955,957 (GRCm39)	Y121*	probably null	Het
Or4c29	G	T	2: 88,739,951 (GRCm39)	T262K	probably damaging	Het
Otop2	T	C	11: 115,214,431 (GRCm39)	F63L	probably benign	Het
Pde3b	C	T	7: 114,015,695 (GRCm39)	Q304*	probably null	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Plekhg4	A	G	8: 106,105,332 (GRCm39)	E599G	possibly damaging	Het
Ppargc1a	C	A	5: 51,630,251 (GRCm39)	R622L	unknown	Het
Ppip5k2	A	G	1: 97,655,139 (GRCm39)	L879P	probably damaging	Het
Prepl	C	T	17: 85,376,366 (GRCm39)	V563M	possibly damaging	Het
Prom1	G	T	5: 44,204,870 (GRCm39)	D201E	probably damaging	Het
Psmd1	T	A	1: 86,054,231 (GRCm39)	D723E	probably damaging	Het
Sall2	A	T	14: 52,550,719 (GRCm39)	N825K	possibly damaging	Het
Sds	A	T	5: 120,618,655 (GRCm39)	M70L	probably benign	Het
Sema4c	C	T	1: 36,592,079 (GRCm39)	R256H	probably damaging	Het
Sik1	T	C	17: 32,070,545 (GRCm39)	Y100C	probably damaging	Het
Slc13a5	T	A	11: 72,138,588 (GRCm39)	I452F	probably damaging	Het
Slc25a24	A	G	3: 109,062,395 (GRCm39)	I162V	possibly damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tenm3	T	A	8: 48,707,668 (GRCm39)	N1710I	probably damaging	Het
Tmem115	T	A	9: 107,411,880 (GRCm39)	M68K	probably benign	Het
Tmem132d	T	C	5: 127,866,936 (GRCm39)	I655V	probably benign	Het
Tmem132d	T	C	5: 128,346,316 (GRCm39)	I69V	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Trim9	A	G	12: 70,314,013 (GRCm39)	M544T	probably benign	Het
Ttll3	G	A	6: 113,389,850 (GRCm39)	R745H	probably benign	Het
Ttn	G	T	2: 76,737,931 (GRCm39)	L4249I	unknown	Het
Unc79	G	A	12: 103,074,874 (GRCm39)		probably null	Het
Vmn1r196	T	C	13: 22,478,254 (GRCm39)	C298R	probably benign	Het
Vmn1r216	A	G	13: 23,284,081 (GRCm39)	I255V	probably benign	Het
Zfp853	A	G	5: 143,274,243 (GRCm39)	L474P	unknown	Het

Other mutations in Or13p8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0153:Or13p8	UTSW	4	118,583,530 (GRCm39)	missense	possibly damaging	0.86
R0335:Or13p8	UTSW	4	118,584,367 (GRCm39)	missense	probably null
R0517:Or13p8	UTSW	4	118,583,831 (GRCm39)	missense	probably damaging	1.00
R4463:Or13p8	UTSW	4	118,583,855 (GRCm39)	missense	probably benign	0.32
R6240:Or13p8	UTSW	4	118,583,668 (GRCm39)	missense	probably benign	0.00
R6481:Or13p8	UTSW	4	118,583,930 (GRCm39)	missense	probably damaging	1.00
R6930:Or13p8	UTSW	4	118,584,338 (GRCm39)	missense	probably damaging	1.00
R7662:Or13p8	UTSW	4	118,583,504 (GRCm39)	missense	probably damaging	0.99
R7681:Or13p8	UTSW	4	118,583,761 (GRCm39)	missense	probably benign	0.00
R7782:Or13p8	UTSW	4	118,584,106 (GRCm39)	missense	probably damaging	1.00
R7845:Or13p8	UTSW	4	118,584,158 (GRCm39)	missense	probably benign	0.00
R8498:Or13p8	UTSW	4	118,583,822 (GRCm39)	missense	possibly damaging	0.78
R8529:Or13p8	UTSW	4	118,583,770 (GRCm39)	missense	probably benign	0.18
R8990:Or13p8	UTSW	4	118,584,224 (GRCm39)	missense	probably benign	0.01
R9176:Or13p8	UTSW	4	118,583,850 (GRCm39)	nonsense	probably null
R9797:Or13p8	UTSW	4	118,584,079 (GRCm39)	missense	probably benign	0.27
T0970:Or13p8	UTSW	4	118,583,464 (GRCm39)	missense	probably benign
Z1176:Or13p8	UTSW	4	118,584,338 (GRCm39)	missense	probably damaging	1.00
Z1177:Or13p8	UTSW	4	118,584,261 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCAAATTCTAGCAAGGAGGAC -3'
(R):5'- TCTCAGTGATGCCTAGTGTCAAG -3'

Sequencing Primer
(F):5'- GCAAGGAGGACAGTAATATTCCCTC -3'
(R):5'- CACACCCAGTGTAAGAGATAGTC -3'

Posted On

2021-10-11