Mutagenetix > Incidental Mutation

Incidental Mutation 'R7662:Or13p8'

591616

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

045737-MU

Accession Numbers

Essential gene?

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

Stock #

R7662 (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 118583504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 20 (F20Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149563 (fasta)

Gene Model

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

AlphaFold

Q3KPC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000094834
AA Change: F20Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092430
Gene: ENSMUSG00000070821
AA Change: F20Y

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 damaging
Transcript: ENSMUST00000213436
AA Change: F20Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216242
AA Change: F20Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217334
AA Change: F20Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,885,999 (GRCm39)	S48L	probably benign	Het
Abi3bp	A	G	16: 56,437,686 (GRCm39)		probably null	Het
Adss1	T	A	12: 112,606,172 (GRCm39)	V456E	probably damaging	Het
Aimp1	A	T	3: 132,379,827 (GRCm39)	V105E	probably benign	Het
Ankrd6	G	A	4: 32,818,694 (GRCm39)	R270C	probably damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Asb15	T	A	6: 24,566,089 (GRCm39)	D347E	probably benign	Het
Axin2	T	A	11: 108,833,282 (GRCm39)	L489Q	possibly damaging	Het
Baiap2l1	G	A	5: 144,294,700 (GRCm39)		probably benign	Het
Cdc6	T	A	11: 98,801,438 (GRCm39)	N194K	possibly damaging	Het
Cdc6	T	C	11: 98,807,836 (GRCm39)	L443P	probably benign	Het
Celf2	C	A	2: 6,558,728 (GRCm39)	G393C	probably damaging	Het
Cep290	T	A	10: 100,373,665 (GRCm39)	M1315K	probably benign	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cntn5	A	T	9: 9,661,390 (GRCm39)	M887K	probably benign	Het
Col17a1	T	C	19: 47,669,940 (GRCm39)	I71V	probably benign	Het
Crot	T	C	5: 9,019,072 (GRCm39)	M494V	probably damaging	Het
Ctnna2	A	T	6: 77,613,852 (GRCm39)	V246D	probably damaging	Het
Cyb5r4	A	G	9: 86,909,091 (GRCm39)	E56G	possibly damaging	Het
Dennd2a	A	G	6: 39,470,037 (GRCm39)	Y552H	probably benign	Het
Dennd4a	A	G	9: 64,759,713 (GRCm39)	I273V	probably damaging	Het
Dkk2	A	G	3: 131,883,629 (GRCm39)		probably null	Het
Dnaja2	A	C	8: 86,265,905 (GRCm39)	D393E	probably benign	Het
Dscc1	T	A	15: 54,939,561 (GRCm39)	I461F	possibly damaging	Het
Dspp	A	T	5: 104,325,736 (GRCm39)	S700C	unknown	Het
Ect2	T	A	3: 27,185,947 (GRCm39)	H512L	probably damaging	Het
Eif1b	A	G	9: 120,323,277 (GRCm39)	T46A	possibly damaging	Het
Fam114a2	A	T	11: 57,398,391 (GRCm39)	D182E	probably damaging	Het
Fez1	C	A	9: 36,781,796 (GRCm39)	P347H	probably damaging	Het
Fgd5	G	A	6: 92,026,912 (GRCm39)		probably null	Het
Flad1	T	A	3: 89,310,758 (GRCm39)	I430F	probably damaging	Het
Gal3st2b	T	C	1: 93,868,614 (GRCm39)	Y282H	probably damaging	Het
Gm29106	T	A	1: 118,127,137 (GRCm39)	N276K	possibly damaging	Het
Gm36176	C	A	10: 77,682,686 (GRCm39)	S16Y	unknown	Het
Gm5624	T	C	14: 44,799,390 (GRCm39)	R56G	possibly damaging	Het
Gpatch11	A	C	17: 79,146,484 (GRCm39)	Q43P	probably benign	Het
Gtpbp2	A	G	17: 46,477,361 (GRCm39)	T409A	probably benign	Het
Hmcn2	T	C	2: 31,272,357 (GRCm39)	I1279T	probably benign	Het
Itih3	T	A	14: 30,639,287 (GRCm39)	N429Y	probably benign	Het
Lrp5	A	G	19: 3,736,353 (GRCm39)		probably null	Het
Lrrc34	T	A	3: 30,697,452 (GRCm39)	Y93F	probably benign	Het
Lypd9	T	C	11: 58,338,269 (GRCm39)	N41S	probably benign	Het
Malrd1	T	A	2: 15,876,265 (GRCm39)	V1404D	unknown	Het
Med1	T	C	11: 98,046,218 (GRCm39)	N1526S	unknown	Het
Myt1l	A	G	12: 29,876,868 (GRCm39)	D173G	unknown	Het
Nckap1l	A	T	15: 103,371,012 (GRCm39)	H197L	probably damaging	Het
Nipa1	T	C	7: 55,629,372 (GRCm39)	E247G	probably damaging	Het
Nmrk1	A	T	19: 18,619,542 (GRCm39)	R132*	probably null	Het
Nrap	G	T	19: 56,308,715 (GRCm39)	A1700E	probably benign	Het
Odr4	T	C	1: 150,258,045 (GRCm39)	S197G	probably benign	Het
Or8g32	A	T	9: 39,305,389 (GRCm39)	M98L	probably benign	Het
Padi6	T	C	4: 140,456,306 (GRCm39)	T563A	probably benign	Het
Pcdhb19	G	A	18: 37,631,788 (GRCm39)	E528K	probably damaging	Het
Pcnt	T	C	10: 76,223,356 (GRCm39)	D1942G	probably benign	Het
Pcnx2	C	T	8: 126,545,510 (GRCm39)	W1167*	probably null	Het
Pkp3	C	T	7: 140,658,292 (GRCm39)	T19I	probably benign	Het
Plekhg5	T	C	4: 152,188,755 (GRCm39)	L199P	probably damaging	Het
Rasal1	A	G	5: 120,800,249 (GRCm39)	T171A	probably benign	Het
Rgsl1	T	C	1: 153,701,225 (GRCm39)	I410V	probably benign	Het
Scart2	T	C	7: 139,874,725 (GRCm39)	V401A	possibly damaging	Het
Sftpa1	C	A	14: 40,856,169 (GRCm39)	N171K	probably damaging	Het
Slc5a9	A	T	4: 111,734,737 (GRCm39)	*686R	probably null	Het
Smap1	A	T	1: 23,916,855 (GRCm39)	N91K	probably damaging	Het
Tenm3	A	G	8: 48,788,762 (GRCm39)	S695P	probably benign	Het
Thoc3	A	T	13: 54,611,617 (GRCm39)	H223Q	probably damaging	Het
Tmco4	T	C	4: 138,737,872 (GRCm39)	F156L	probably benign	Het
Tmem30a	C	T	9: 79,682,513 (GRCm39)	V188I	probably benign	Het
Trim27	T	A	13: 21,376,328 (GRCm39)	C359S	probably benign	Het
Trrap	A	G	5: 144,769,321 (GRCm39)	T2609A	probably benign	Het
Ttn	A	G	2: 76,692,744 (GRCm39)	V446A		Het
Vat1l	T	A	8: 115,009,084 (GRCm39)	Y273N	probably damaging	Het
Vmn1r129	T	A	7: 21,094,552 (GRCm39)	H222L	possibly damaging	Het
Vmn2r19	A	G	6: 123,308,521 (GRCm39)	T533A	probably benign	Het
Vmn2r77	T	A	7: 86,460,492 (GRCm39)	L606*	probably null	Het
Vmn2r93	G	T	17: 18,525,631 (GRCm39)	V430L	probably benign	Het
Vps50	T	A	6: 3,562,304 (GRCm39)	N466K	probably damaging	Het
Zfp507	A	T	7: 35,487,229 (GRCm39)	Y746*	probably null	Het
Zfp521	A	C	18: 13,977,173 (GRCm39)	L1080R	probably damaging	Het
Zfp74	A	G	7: 29,653,278 (GRCm39)		probably null	Het
Zfp831	G	A	2: 174,487,934 (GRCm39)	A870T	possibly damaging	Het
Zfp936	A	T	7: 42,839,336 (GRCm39)	K268*	probably null	Het
Zhx2	C	A	15: 57,685,572 (GRCm39)	R314S	probably damaging	Het
Zkscan16	A	T	4: 58,957,679 (GRCm39)	K654*	probably null	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
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
R9017:Or13p8	UTSW	4	118,583,565 (GRCm39)	missense	probably benign
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'- TGGCCAGGCTAATTTGGATAG -3'
(R):5'- GTCGTGGTGGCATAACTCAGATC -3'

Sequencing Primer
(F):5'- AGATTACTTCCAGGGCATAGTG -3'
(R):5'- TGGCATAACTCAGATCCAGGAG -3'

Posted On

2019-11-12