Mutagenetix > Incidental Mutation

Incidental Mutation 'R6294:Or10c1'

508642

Institutional Source

Beutler Lab

Gene Symbol

Or10c1

Ensembl Gene

ENSMUSG00000049561

Gene Name

olfactory receptor family 10 subfamily C member 1

Synonyms

Olfr95, GA_x6K02T2PSCP-1651760-1650822, MOR263-6

MMRRC Submission

044406-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37521804-37522742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37522517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 76 (T76A)

Ref Sequence

ENSEMBL: ENSMUSP00000150480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060728] [ENSMUST00000216318]

AlphaFold

Q8VFE2

Predicted Effect

probably benign
Transcript: ENSMUST00000060728
AA Change: T76A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000058929
Gene: ENSMUSG00000049561
AA Change: T76A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1.9e-57	PFAM
Pfam:7TM_GPCR_Srsx	34	259	1.7e-6	PFAM
Pfam:7tm_1	40	289	2.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216318
AA Change: T76A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.1335

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

99% (71/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,631,440 (GRCm39)	H579L	probably benign	Het
Aldh2	G	A	5: 121,710,879 (GRCm39)	Q8*	probably null	Het
Ankdd1a	G	T	9: 65,427,446 (GRCm39)	H10Q	probably benign	Het
Arpp21	A	G	9: 111,956,520 (GRCm39)	F453L	probably damaging	Het
Birc6	C	A	17: 74,996,252 (GRCm39)	D4461E	probably benign	Het
Cacna1b	A	T	2: 24,609,069 (GRCm39)	S411T	possibly damaging	Het
Camk2g	A	G	14: 20,815,017 (GRCm39)	I203T	probably damaging	Het
Cat	A	T	2: 103,290,640 (GRCm39)	C425S	probably benign	Het
Ccdc34	A	G	2: 109,848,496 (GRCm39)	D95G	probably benign	Het
Clca4b	T	C	3: 144,630,946 (GRCm39)	S305G	probably null	Het
Cul7	T	C	17: 46,974,074 (GRCm39)	I1453T	probably benign	Het
Dlg1	T	A	16: 31,656,942 (GRCm39)	I612N	probably damaging	Het
Dync2h1	T	G	9: 7,084,986 (GRCm39)	K561T	probably benign	Het
Erbin	T	C	13: 103,993,564 (GRCm39)	T359A	probably benign	Het
Far2	T	A	6: 148,058,980 (GRCm39)	L222Q	probably damaging	Het
Fbxw17	A	G	13: 50,577,839 (GRCm39)	E114G	probably benign	Het
Fryl	A	T	5: 73,349,102 (GRCm39)		probably benign	Het
Ggn	A	G	7: 28,873,273 (GRCm39)	D666G	possibly damaging	Het
Hal	G	A	10: 93,350,005 (GRCm39)		probably null	Het
Htt	A	G	5: 34,979,170 (GRCm39)	D851G	probably benign	Het
Ighv14-2	A	T	12: 113,958,218 (GRCm39)	D74E	probably benign	Het
Igkv5-43	G	A	6: 69,800,426 (GRCm39)	S87L	probably damaging	Het
Klhl29	A	T	12: 5,133,995 (GRCm39)	F720I	probably damaging	Het
Klk1b8	T	A	7: 43,602,196 (GRCm39)	Y43N	probably damaging	Het
Krtap20-1	T	A	16: 88,880,989 (GRCm39)	Y7N	unknown	Het
Lama4	T	A	10: 38,951,466 (GRCm39)	F1070L	probably damaging	Het
Map4	A	G	9: 109,831,814 (GRCm39)	E98G	possibly damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mki67	A	G	7: 135,306,319 (GRCm39)	M581T	probably benign	Het
Mtss2	T	A	8: 111,453,960 (GRCm39)	N43K	possibly damaging	Het
Mylk3	T	A	8: 86,077,012 (GRCm39)	I475F	probably damaging	Het
Nat14	C	T	7: 4,927,073 (GRCm39)	R82*	probably null	Het
Nckap1	T	C	2: 80,371,858 (GRCm39)	N324S	probably benign	Het
Nemp1	C	T	10: 127,530,391 (GRCm39)	T281M	possibly damaging	Het
Nrg3	A	T	14: 38,119,196 (GRCm39)	H425Q	probably benign	Het
Omd	T	A	13: 49,743,467 (GRCm39)	N172K	probably damaging	Het
Or12d12	T	A	17: 37,610,444 (GRCm39)	T290S	probably benign	Het
Or4f62	A	G	2: 111,986,364 (GRCm39)	I23V	probably benign	Het
Or52a33	A	G	7: 103,288,798 (GRCm39)	M183T	probably damaging	Het
Or52r1c	A	T	7: 102,734,874 (GRCm39)	I45F	probably benign	Het
Or5b123	T	C	19: 13,596,730 (GRCm39)	V25A	probably benign	Het
Orc1	T	C	4: 108,447,867 (GRCm39)	I38T	probably benign	Het
Oxct1	A	G	15: 4,172,304 (GRCm39)	T457A	possibly damaging	Het
Pcdh17	A	T	14: 84,715,108 (GRCm39)	K924N	probably benign	Het
Pkhd1l1	A	T	15: 44,433,424 (GRCm39)	I3435F	probably damaging	Het
Psg20	C	A	7: 18,416,604 (GRCm39)	V171F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,531 (GRCm39)	S87T	probably damaging	Het
Rabgap1l	T	C	1: 160,059,419 (GRCm39)	T237A	probably benign	Het
Rasgrp1	A	T	2: 117,122,273 (GRCm39)	Y372*	probably null	Het
Rell1	G	T	5: 64,097,048 (GRCm39)		probably benign	Het
Rps14	A	G	18: 60,910,033 (GRCm39)	K61E	possibly damaging	Het
Rtl6	A	G	15: 84,441,321 (GRCm39)	V25A	possibly damaging	Het
Ryr2	G	T	13: 11,894,382 (GRCm39)	S185R	probably damaging	Het
Slc10a2	C	T	8: 5,141,621 (GRCm39)		probably null	Het
Slc14a1	T	A	18: 78,153,273 (GRCm39)		probably null	Het
Smad2	A	T	18: 76,422,233 (GRCm39)	N215I	probably benign	Het
Smchd1	A	T	17: 71,677,922 (GRCm39)	N1473K	probably benign	Het
Spag9	A	G	11: 93,984,311 (GRCm39)		probably null	Het
Stk31	A	C	6: 49,394,278 (GRCm39)	R213S	probably benign	Het
Tmod4	A	T	3: 95,035,617 (GRCm39)	Q255L	probably benign	Het
Tnpo1	T	A	13: 99,027,282 (GRCm39)	Y3F	probably benign	Het
Tom1l1	A	C	11: 90,552,587 (GRCm39)	Y206*	probably null	Het
Tulp2	A	G	7: 45,164,116 (GRCm39)	K36E	probably damaging	Het
Tulp4	C	T	17: 6,252,094 (GRCm39)	R282C	probably damaging	Het
Unc5b	A	T	10: 60,614,110 (GRCm39)	N246K	possibly damaging	Het
Ush2a	C	G	1: 188,268,567 (GRCm39)	S1674R	possibly damaging	Het
Vmn1r224	T	C	17: 20,640,083 (GRCm39)	I220T	probably benign	Het
Vmn1r7	G	C	6: 57,001,404 (GRCm39)	N285K	probably benign	Het
Vmn2r83	C	T	10: 79,313,688 (GRCm39)	P99S	probably damaging	Het
Zbtb38	A	G	9: 96,569,282 (GRCm39)	F601L	probably benign	Het
Zc3h3	A	T	15: 75,681,417 (GRCm39)	S555T	possibly damaging	Het

Other mutations in Or10c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02147:Or10c1	APN	17	37,521,877 (GRCm39)	missense	probably damaging	1.00
IGL03306:Or10c1	APN	17	37,522,568 (GRCm39)	missense	probably damaging	1.00
PIT4377001:Or10c1	UTSW	17	37,521,980 (GRCm39)	missense	probably benign	0.00
R0668:Or10c1	UTSW	17	37,522,535 (GRCm39)	missense	probably damaging	1.00
R0909:Or10c1	UTSW	17	37,521,809 (GRCm39)	missense	probably benign	0.33
R1442:Or10c1	UTSW	17	37,522,595 (GRCm39)	missense	probably benign	0.00
R1557:Or10c1	UTSW	17	37,522,244 (GRCm39)	missense	probably damaging	1.00
R1758:Or10c1	UTSW	17	37,522,204 (GRCm39)	missense	possibly damaging	0.88
R3195:Or10c1	UTSW	17	37,522,427 (GRCm39)	missense	possibly damaging	0.87
R3749:Or10c1	UTSW	17	37,522,691 (GRCm39)	missense	possibly damaging	0.55
R3778:Or10c1	UTSW	17	37,522,649 (GRCm39)	missense	probably benign
R4458:Or10c1	UTSW	17	37,522,204 (GRCm39)	missense	possibly damaging	0.88
R4591:Or10c1	UTSW	17	37,522,010 (GRCm39)	missense	probably benign
R5058:Or10c1	UTSW	17	37,522,558 (GRCm39)	missense	probably damaging	1.00
R5060:Or10c1	UTSW	17	37,522,307 (GRCm39)	missense	probably benign	0.00
R5903:Or10c1	UTSW	17	37,521,912 (GRCm39)	nonsense	probably null
R6689:Or10c1	UTSW	17	37,522,048 (GRCm39)	missense	probably damaging	1.00
R7196:Or10c1	UTSW	17	37,522,084 (GRCm39)	missense	probably damaging	1.00
R7677:Or10c1	UTSW	17	37,522,386 (GRCm39)	nonsense	probably null
R8132:Or10c1	UTSW	17	37,522,207 (GRCm39)	missense	probably damaging	1.00
R8340:Or10c1	UTSW	17	37,522,075 (GRCm39)	missense	possibly damaging	0.78
R8380:Or10c1	UTSW	17	37,522,232 (GRCm39)	missense	possibly damaging	0.90
R9716:Or10c1	UTSW	17	37,522,355 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CCGGCTGGATCTCACAGAAG -3'
(R):5'- TGGGCTTCTCACGTCTGGTC -3'

Sequencing Primer
(F):5'- ACAAACCCTGCGGCTGAG -3'
(R):5'- ACGTCTGGTCCACCTGCAG -3'

Posted On

2018-03-15