Mutagenetix > Incidental Mutation

Incidental Mutation 'R8329:Or13p10'

644244

Institutional Source

Beutler Lab

Gene Symbol

Or13p10

Ensembl Gene

ENSMUSG00000043698

Gene Name

olfactory receptor family 13 subfamily P member 10

Synonyms

MOR258-5, Olfr62, IH12, GA_x6K02T2QD9B-18877756-18876809

MMRRC Submission

067859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R8329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118522716-118523663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 118523604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 297 (N297H)

Ref Sequence

ENSEMBL: ENSMUSP00000149043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102666] [ENSMUST00000213189] [ENSMUST00000217013]

AlphaFold

L7MU75

Predicted Effect

probably damaging
Transcript: ENSMUST00000102666
AA Change: N297H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099727
Gene: ENSMUSG00000043698
AA Change: N297H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	2.9e-53	PFAM
Pfam:7TM_GPCR_Srsx	38	308	1e-8	PFAM
Pfam:7tm_1	44	293	2.2e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213189
AA Change: N297H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217013
AA Change: N297H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,461,978 (GRCm39)		probably null	Het
Ackr4	A	G	9: 103,976,660 (GRCm39)	F96L	possibly damaging	Het
Aco1	T	C	4: 40,186,376 (GRCm39)	I596T	possibly damaging	Het
Aff3	G	A	1: 38,244,135 (GRCm39)	R879W	probably benign	Het
Apob	A	G	12: 8,061,135 (GRCm39)	R3206G	probably damaging	Het
Atg7	T	A	6: 114,663,057 (GRCm39)	D224E	possibly damaging	Het
Capn12	T	C	7: 28,582,626 (GRCm39)	F167S	probably damaging	Het
Ccdc3	T	G	2: 5,233,848 (GRCm39)	V224G	probably damaging	Het
Ces4a	G	A	8: 105,874,714 (GRCm39)	V452I	probably damaging	Het
Cherp	G	A	8: 73,215,852 (GRCm39)	R834C		Het
Clptm1l	T	A	13: 73,760,547 (GRCm39)	I310N	probably damaging	Het
Cog3	A	T	14: 75,978,003 (GRCm39)	D230E	probably damaging	Het
Crb1	T	A	1: 139,165,005 (GRCm39)	I1101F	probably damaging	Het
Cts6	A	T	13: 61,343,282 (GRCm39)	M313K	probably damaging	Het
Cyp2c66	T	A	19: 39,174,906 (GRCm39)	C435*	probably null	Het
Defb13	A	G	8: 22,438,562 (GRCm39)	E40G	probably benign	Het
Dis3l	T	C	9: 64,219,112 (GRCm39)	D606G	possibly damaging	Het
Dop1b	T	C	16: 93,568,675 (GRCm39)	L1579P	probably damaging	Het
Foxa3	A	G	7: 18,748,109 (GRCm39)	V339A	probably benign	Het
Gcn1	G	A	5: 115,747,921 (GRCm39)	G1776E	probably damaging	Het
Gls2	A	G	10: 128,037,154 (GRCm39)	T232A	probably benign	Het
Gprc6a	A	T	10: 51,503,355 (GRCm39)	Y169*	probably null	Het
Guca2b	T	C	4: 119,516,001 (GRCm39)	S18G	unknown	Het
Hars2	A	G	18: 36,922,288 (GRCm39)	D301G	possibly damaging	Het
Haus5	T	A	7: 30,358,984 (GRCm39)	Q226L	possibly damaging	Het
Hc	G	A	2: 34,902,910 (GRCm39)		probably null	Het
Hivep2	T	C	10: 14,004,011 (GRCm39)	V203A	probably damaging	Het
Hoxc8	A	G	15: 102,899,543 (GRCm39)	Y111C	probably damaging	Het
Hoxd13	G	T	2: 74,498,661 (GRCm39)	R3L	probably benign	Het
Hspa8	T	G	9: 40,713,897 (GRCm39)	I130S	probably damaging	Het
Ier5l	C	A	2: 30,362,861 (GRCm39)	C388F	possibly damaging	Het
Ldc1	C	T	4: 130,109,156 (GRCm39)	V295M	possibly damaging	Het
Lmx1a	A	G	1: 167,517,372 (GRCm39)	N10S	probably benign	Het
Map2	T	C	1: 66,454,272 (GRCm39)	I1054T	probably benign	Het
Me1	C	T	9: 86,501,790 (GRCm39)	D268N	probably damaging	Het
Muc6	G	A	7: 141,226,525 (GRCm39)	P1501S	unknown	Het
Myo1d	T	C	11: 80,528,900 (GRCm39)	M641V	probably benign	Het
Nuggc	G	A	14: 65,878,731 (GRCm39)	R667K	probably benign	Het
Oprl1	T	A	2: 181,360,717 (GRCm39)	C231S	probably damaging	Het
Or11g26	T	C	14: 50,753,015 (GRCm39)	F118S	probably damaging	Het
Pard3b	C	A	1: 62,676,957 (GRCm39)	Q1163K	probably benign	Het
Pik3c2a	T	C	7: 116,017,283 (GRCm39)	Y158C	probably damaging	Het
Prune2	T	G	19: 17,098,629 (GRCm39)	S1378A	probably benign	Het
Ralgps2	G	T	1: 156,712,110 (GRCm39)	T158K	probably damaging	Het
Rbm42	T	A	7: 30,344,582 (GRCm39)	E227V	unknown	Het
Ripor3	T	C	2: 167,825,119 (GRCm39)	R797G	possibly damaging	Het
Ryr3	T	A	2: 112,492,855 (GRCm39)	H3764L	possibly damaging	Het
Sbno2	T	C	10: 79,900,221 (GRCm39)	Y541C	probably damaging	Het
Scn5a	A	G	9: 119,365,030 (GRCm39)	V396A	probably damaging	Het
Slc36a3	A	G	11: 55,039,409 (GRCm39)	L73P	probably damaging	Het
Spag16	T	C	1: 69,934,407 (GRCm39)	I278T	probably benign	Het
Stx18	T	A	5: 38,285,450 (GRCm39)	L274*	probably null	Het
Terb1	A	T	8: 105,211,003 (GRCm39)	N341K	probably damaging	Het
Timm29	A	G	9: 21,505,001 (GRCm39)	Y223C	probably damaging	Het
Tmprss2	T	A	16: 97,369,665 (GRCm39)	M370L	probably benign	Het
Tmtc3	T	A	10: 100,283,296 (GRCm39)	N753I	probably damaging	Het
Tnpo3	A	T	6: 29,558,832 (GRCm39)	C699*	probably null	Het
Trav5d-4	G	A	14: 53,239,208 (GRCm39)	W13*	probably null	Het
Trdn	A	G	10: 33,320,074 (GRCm39)		probably null	Het
Tsg101	A	T	7: 46,558,808 (GRCm39)	Y68N	probably damaging	Het
Ttn	A	G	2: 76,664,062 (GRCm39)	V11649A	unknown	Het
Wnk2	A	T	13: 49,248,914 (GRCm39)	V379D	probably damaging	Het
Xpnpep1	A	G	19: 52,990,903 (GRCm39)		probably null	Het
Yme1l1	C	T	2: 23,054,597 (GRCm39)	Q139*	probably null	Het

Other mutations in Or13p10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Or13p10	APN	4	118,523,475 (GRCm39)	missense	probably damaging	1.00
IGL02203:Or13p10	APN	4	118,523,379 (GRCm39)	missense	probably benign	0.00
IGL02259:Or13p10	APN	4	118,523,634 (GRCm39)	missense	probably benign	0.00
IGL02523:Or13p10	APN	4	118,523,238 (GRCm39)	missense	probably benign	0.03
IGL03324:Or13p10	APN	4	118,523,069 (GRCm39)	missense	probably benign	0.00
R1215:Or13p10	UTSW	4	118,523,496 (GRCm39)	missense	possibly damaging	0.69
R1656:Or13p10	UTSW	4	118,523,385 (GRCm39)	missense	probably damaging	0.99
R2085:Or13p10	UTSW	4	118,523,301 (GRCm39)	missense	probably damaging	0.98
R2441:Or13p10	UTSW	4	118,523,332 (GRCm39)	missense	possibly damaging	0.94
R6277:Or13p10	UTSW	4	118,523,520 (GRCm39)	missense	probably benign	0.03
R6306:Or13p10	UTSW	4	118,523,490 (GRCm39)	missense	probably benign	0.00
R6418:Or13p10	UTSW	4	118,522,808 (GRCm39)	missense	possibly damaging	0.77
R6700:Or13p10	UTSW	4	118,523,609 (GRCm39)	missense	probably benign	0.42
R7410:Or13p10	UTSW	4	118,523,629 (GRCm39)	missense	probably benign	0.31
R7723:Or13p10	UTSW	4	118,522,914 (GRCm39)	missense	probably benign	0.01
R7991:Or13p10	UTSW	4	118,523,489 (GRCm39)	nonsense	probably null
R8222:Or13p10	UTSW	4	118,523,113 (GRCm39)	missense	probably damaging	1.00
R8896:Or13p10	UTSW	4	118,523,502 (GRCm39)	missense	probably benign	0.05
Z1176:Or13p10	UTSW	4	118,523,023 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTGCTGCTATCTTGAGAATCCG -3'
(R):5'- AGTGACTTTGAACCACGTCAAC -3'

Sequencing Primer
(F):5'- CTTGAGAATCCGTTCAACTCAAGGG -3'
(R):5'- CACGTCAACTCACTGGATGTAATG -3'

Posted On

2020-09-02