Mutagenetix > Incidental Mutation

Incidental Mutation 'R8308:Or4c11c'

641176

Institutional Source

Beutler Lab

Gene Symbol

Or4c11c

Ensembl Gene

ENSMUSG00000057447

Gene Name

olfactory receptor family 4 subfamily C member 11C

Synonyms

GA_x6K02T2Q125-50336588-50337313, MOR230-1, MOR230-3, Olfr1205, GA_x6K02T2Q125-50304328-50305251, Olfr1203

MMRRC Submission

067793-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R8308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88660101-88662386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88661633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 57 (M57I)

Ref Sequence

ENSEMBL: ENSMUSP00000075769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076438] [ENSMUST00000215929]

AlphaFold

A2ATJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076438
AA Change: M57I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075769
Gene: ENSMUSG00000057447
AA Change: M57I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	5e-45	PFAM
Pfam:7tm_1	39	285	9.1e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215929
AA Change: M57I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,659,570 (GRCm39)	D341G	probably damaging	Het
Abca17	T	C	17: 24,486,657 (GRCm39)	T1457A	probably damaging	Het
Acot8	A	T	2: 164,646,663 (GRCm39)	S25R	probably benign	Het
Ap2a2	T	C	7: 141,210,212 (GRCm39)	V850A	probably benign	Het
Baiap2l1	T	A	5: 144,214,487 (GRCm39)	E402D	probably benign	Het
Bptf	T	C	11: 106,943,815 (GRCm39)	K2689E	probably damaging	Het
Cdh22	C	A	2: 164,954,098 (GRCm39)	D808Y	probably damaging	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Cipc	A	G	12: 87,008,809 (GRCm39)	T223A	probably benign	Het
Crem	G	T	18: 3,295,397 (GRCm39)	T57K	possibly damaging	Het
Cyp17a1	T	A	19: 46,656,516 (GRCm39)	I393F	probably benign	Het
Dgcr2	C	T	16: 17,676,242 (GRCm39)	G176D	probably benign	Het
Dock3	C	A	9: 106,790,371 (GRCm39)	V1451L	probably benign	Het
Dsg2	C	T	18: 20,708,121 (GRCm39)	P74L	probably benign	Het
Ece1	T	C	4: 137,664,075 (GRCm39)	V224A	probably damaging	Het
Flg	A	T	3: 93,190,586 (GRCm39)	S152C	unknown	Het
Gcsam	A	T	16: 45,430,902 (GRCm39)	N3I	probably damaging	Het
Gm10188	C	T	1: 132,157,310 (GRCm39)	V19I	unknown	Het
Gpr27	T	C	6: 99,670,217 (GRCm39)	L193P	probably damaging	Het
Grin2b	A	T	6: 135,900,074 (GRCm39)	V269E	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Kif14	A	G	1: 136,443,651 (GRCm39)	I1275V	possibly damaging	Het
Krt27	T	C	11: 99,239,862 (GRCm39)	E234G	probably benign	Het
Lmo7	T	C	14: 102,139,807 (GRCm39)		probably null	Het
Matk	T	G	10: 81,094,121 (GRCm39)	S18A	probably benign	Het
Mbd3l1	A	G	9: 18,395,886 (GRCm39)	T4A	probably benign	Het
Mettl23	G	A	11: 116,739,185 (GRCm39)		probably null	Het
Ncam1	A	T	9: 49,479,817 (GRCm39)	W54R	probably damaging	Het
Olfm5	A	G	7: 103,803,606 (GRCm39)	Y286H	probably damaging	Het
Or10d5j	T	A	9: 39,868,265 (GRCm39)	M1L	probably benign	Het
Or4q3	T	C	14: 50,582,922 (GRCm39)	I326V	probably benign	Het
Or5ac15	C	T	16: 58,939,899 (GRCm39)	C178Y	probably damaging	Het
Pmch	A	G	10: 87,927,614 (GRCm39)	Y105C	probably damaging	Het
Prg3	A	G	2: 84,819,676 (GRCm39)	T57A	probably benign	Het
Ptpn13	A	G	5: 103,688,838 (GRCm39)	E877G	probably damaging	Het
Ptprt	A	G	2: 161,769,566 (GRCm39)	V433A	probably benign	Het
Rufy1	A	T	11: 50,297,233 (GRCm39)	D406E	probably benign	Het
Scara5	C	T	14: 65,927,234 (GRCm39)	R44W	probably damaging	Het
Scg2	T	G	1: 79,414,576 (GRCm39)	K49T	probably benign	Het
Slc40a1	A	G	1: 45,950,180 (GRCm39)	I424T	probably benign	Het
Slc4a8	T	A	15: 100,693,735 (GRCm39)	S479T	probably damaging	Het
Sorl1	T	C	9: 41,929,456 (GRCm39)	D1139G	probably damaging	Het
Srcap	A	G	7: 127,152,353 (GRCm39)	I2206V	possibly damaging	Het
Tpk1	T	C	6: 43,642,711 (GRCm39)	E9G	probably benign	Het
Ttn	C	T	2: 76,642,645 (GRCm39)	V13297I	possibly damaging	Het
Uchl3	T	C	14: 101,932,655 (GRCm39)		probably null	Het
Usp12	T	C	5: 146,688,751 (GRCm39)	D201G	probably damaging	Het
Vmn1r193	C	T	13: 22,403,146 (GRCm39)	R282H	probably benign	Het
Vmn2r104	T	C	17: 20,261,040 (GRCm39)	D461G	possibly damaging	Het
Zfp131	A	G	13: 120,244,440 (GRCm39)	M80T	possibly damaging	Het
Zfp457	A	G	13: 67,441,663 (GRCm39)	L304P	probably benign	Het
Zswim3	A	G	2: 164,663,566 (GRCm39)	E682G	probably damaging	Het

Other mutations in Or4c11c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Or4c11c	APN	2	88,661,456 (GRCm39)	splice site	probably null
IGL02079:Or4c11c	APN	2	88,661,991 (GRCm39)	missense	probably damaging	1.00
IGL02183:Or4c11c	APN	2	88,662,372 (GRCm39)	missense	probably benign
IGL02813:Or4c11c	APN	2	88,661,495 (GRCm39)	missense	probably benign	0.34
IGL02839:Or4c11c	APN	2	88,661,992 (GRCm39)	missense	probably damaging	1.00
IGL02895:Or4c11c	APN	2	88,661,986 (GRCm39)	missense	probably damaging	1.00
R0680:Or4c11c	UTSW	2	88,662,124 (GRCm39)	missense	probably benign
R2029:Or4c11c	UTSW	2	88,661,749 (GRCm39)	missense	possibly damaging	0.88
R2095:Or4c11c	UTSW	2	88,661,634 (GRCm39)	missense	probably damaging	1.00
R6158:Or4c11c	UTSW	2	88,661,490 (GRCm39)	missense	probably damaging	1.00
R6216:Or4c11c	UTSW	2	88,661,655 (GRCm39)	missense	probably damaging	1.00
R6240:Or4c11c	UTSW	2	88,661,707 (GRCm39)	missense	probably benign	0.22
R6377:Or4c11c	UTSW	2	88,661,613 (GRCm39)	nonsense	probably null
R6429:Or4c11c	UTSW	2	88,661,869 (GRCm39)	missense	probably benign	0.01
R6521:Or4c11c	UTSW	2	88,661,700 (GRCm39)	missense	probably benign	0.03
R7065:Or4c11c	UTSW	2	88,661,730 (GRCm39)	missense	probably damaging	1.00
R7343:Or4c11c	UTSW	2	88,662,190 (GRCm39)	missense	probably damaging	1.00
R7476:Or4c11c	UTSW	2	88,661,932 (GRCm39)	missense	probably benign	0.07
R7570:Or4c11c	UTSW	2	88,661,472 (GRCm39)	missense	possibly damaging	0.82
R8303:Or4c11c	UTSW	2	88,661,633 (GRCm39)	missense	possibly damaging	0.90
R8306:Or4c11c	UTSW	2	88,661,633 (GRCm39)	missense	possibly damaging	0.90
R8307:Or4c11c	UTSW	2	88,661,633 (GRCm39)	missense	possibly damaging	0.90
R8344:Or4c11c	UTSW	2	88,661,727 (GRCm39)	missense	probably benign	0.00
R8386:Or4c11c	UTSW	2	88,661,633 (GRCm39)	missense	possibly damaging	0.90
R8387:Or4c11c	UTSW	2	88,661,633 (GRCm39)	missense	possibly damaging	0.90
R8809:Or4c11c	UTSW	2	88,662,256 (GRCm39)	missense	probably benign	0.01
R8894:Or4c11c	UTSW	2	88,661,809 (GRCm39)	missense	probably benign	0.12
Z1176:Or4c11c	UTSW	2	88,661,922 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTGGACTGACACAATGCAGC -3'
(R):5'- TGCAAGGGTTTACAGATGGCC -3'

Sequencing Primer
(F):5'- TGCAGCAGAACAGCACTGTC -3'
(R):5'- GTTTACAGATGGCCACATAACGGTC -3'

Posted On

2020-07-28