Mutagenetix > Incidental Mutation

Incidental Mutation 'R8529:Or13p8'

658931

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

068499-MU

Accession Numbers

Essential gene?

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

Stock #

R8529 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118582919-118584393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118583770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 109 (T109S)

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: T109S

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000092430
Gene: ENSMUSG00000070821
AA Change: T109S

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: T109S

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000216242
AA Change: T109S

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000217334
AA Change: T109S

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (52/53)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	G	2: 22,970,704 (GRCm39)	Y173C	probably benign	Het
Ankrd55	A	T	13: 112,480,670 (GRCm39)	T192S	probably benign	Het
Apob	A	T	12: 8,057,353 (GRCm39)	H1912L	probably damaging	Het
Bcl2l11	T	C	2: 127,970,796 (GRCm39)	S82P	possibly damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Btnl10	A	T	11: 58,813,238 (GRCm39)	D289V	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Cdh11	G	A	8: 103,391,387 (GRCm39)	P283L	probably benign	Het
Crybg3	C	A	16: 59,376,984 (GRCm39)	K1423N	probably damaging	Het
Dgat1	T	A	15: 76,387,237 (GRCm39)	Y350F	probably damaging	Het
Dhx36	TCCGCCGCCGCCGCCGC	TCCGCCGCCGCCGC	3: 62,414,277 (GRCm39)		probably benign	Het
Edc4	A	G	8: 106,611,682 (GRCm39)	D86G	probably damaging	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Erbb3	A	G	10: 128,419,069 (GRCm39)	V264A	probably damaging	Het
Fam149b	T	A	14: 20,408,370 (GRCm39)		probably null	Het
Foxc1	A	G	13: 31,992,520 (GRCm39)	S444G	unknown	Het
Gm2042	G	A	12: 87,926,856 (GRCm39)	S391N	possibly damaging	Het
Gnb3	A	T	6: 124,814,633 (GRCm39)	N88K	probably benign	Het
Ifnar2	T	A	16: 91,188,684 (GRCm39)	V157D	possibly damaging	Het
Il27	A	T	7: 126,191,977 (GRCm39)	L53Q	probably damaging	Het
Ints13	T	C	6: 146,464,926 (GRCm39)	E225G	probably damaging	Het
Itpr2	G	A	6: 146,231,051 (GRCm39)	R1167C	probably damaging	Het
Lrp2	A	T	2: 69,330,986 (GRCm39)	I1690K	probably damaging	Het
Lrrc37a	T	C	11: 103,348,373 (GRCm39)	E2774G	unknown	Het
Lyz2	A	T	10: 117,116,568 (GRCm39)	N93K	probably damaging	Het
Mki67	A	G	7: 135,315,688 (GRCm39)		probably null	Het
Mroh1	T	C	15: 76,311,832 (GRCm39)	F522L	probably benign	Het
Myo5a	A	G	9: 75,120,154 (GRCm39)	I1626V	probably benign	Het
Nav3	A	T	10: 109,689,192 (GRCm39)	S362T	probably benign	Het
Neurl4	C	T	11: 69,799,613 (GRCm39)	P972L	probably damaging	Het
Or11i1	A	T	3: 106,729,109 (GRCm39)	Y255*	probably null	Het
Or8a1	A	T	9: 37,642,252 (GRCm39)	V9E	probably damaging	Het
Potefam3b	A	G	8: 21,159,174 (GRCm39)	D176G	possibly damaging	Het
Prdm5	C	T	6: 65,878,829 (GRCm39)	R128C	probably damaging	Het
Prom1	A	T	5: 44,170,369 (GRCm39)		probably null	Het
Prrc2c	T	A	1: 162,536,663 (GRCm39)		probably benign	Het
Prss3b	T	A	6: 41,009,369 (GRCm39)	Y155F	probably benign	Het
Ptprd	T	C	4: 76,047,262 (GRCm39)	T322A	probably damaging	Het
Reg3d	C	G	6: 78,353,382 (GRCm39)	G154R	probably null	Het
Rsf1	A	G	7: 97,320,074 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,769,509 (GRCm39)	T2724S	possibly damaging	Het
Sec63	A	G	10: 42,665,379 (GRCm39)	Y103C	probably damaging	Het
Serpinb9b	A	T	13: 33,223,543 (GRCm39)	D245V	probably benign	Het
Slc22a28	G	A	19: 8,040,778 (GRCm39)	T491I	probably benign	Het
Slc24a2	T	C	4: 86,946,517 (GRCm39)	N484S	possibly damaging	Het
Slc44a3	G	T	3: 121,319,334 (GRCm39)	L136I	probably benign	Het
Tff3	A	G	17: 31,348,460 (GRCm39)		probably null	Het
Tpp2	T	A	1: 44,022,300 (GRCm39)	D899E	probably benign	Het
Tsbp1	G	T	17: 34,679,143 (GRCm39)	C302F	possibly damaging	Het
Tsen54	G	T	11: 115,711,386 (GRCm39)	D268Y	possibly damaging	Het
Ttbk2	A	C	2: 120,604,338 (GRCm39)	V220G	possibly damaging	Het
Uggt1	A	G	1: 36,223,513 (GRCm39)	V592A	possibly damaging	Het
Usp49	A	T	17: 47,983,037 (GRCm39)	Q14L	probably damaging	Het
Vldlr	T	A	19: 27,207,656 (GRCm39)	L48Q	probably benign	Het
Zbed6	T	C	1: 133,584,706 (GRCm39)	Y877C	probably benign	Het
Zp3	C	A	5: 136,016,119 (GRCm39)	T282N	probably damaging	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
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'- GGTAATGGACTCATTGTTACCCTG -3'
(R):5'- TGATCTCATTGGGGCCACAG -3'

Sequencing Primer
(F):5'- CCCTGATTAGAATAGATGCTCGTC -3'
(R):5'- TCTCATTGGGGCCACAGTAAGG -3'

Posted On

2021-01-18