Mutagenetix > Incidental Mutation

Incidental Mutation 'R2260:Or4c100'

243702

Institutional Source

Beutler Lab

Gene Symbol

Or4c100

Ensembl Gene

ENSMUSG00000082882

Gene Name

olfactory receptor family 4 subfamily C member 100

Synonyms

GA_x6K02T2Q125-50012960-50013871, Olfr1186, MOR230-5

MMRRC Submission

040260-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R2260 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88355845-88356934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88356730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 268 (V268I)

Ref Sequence

ENSEMBL: ENSMUSP00000151114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075025] [ENSMUST00000121619] [ENSMUST00000215912] [ENSMUST00000216978]

AlphaFold

Q7TR16

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075025
AA Change: V268I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074542
Gene: ENSMUSG00000057735
AA Change: V268I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	302	2.5e-51	PFAM
Pfam:7tm_1	38	284	4.8e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121619
AA Change: V268I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215912
AA Change: V268I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216978
AA Change: V268I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,354,978 (GRCm39)	N1252I	probably damaging	Het
Acot5	A	T	12: 84,122,643 (GRCm39)	H409L	possibly damaging	Het
Adgrv1	A	T	13: 81,716,493 (GRCm39)	V840E	probably damaging	Het
Adnp2	A	T	18: 80,171,664 (GRCm39)	M915K	probably benign	Het
Cd101	G	C	3: 100,924,261 (GRCm39)	L393V	possibly damaging	Het
Cd177	A	G	7: 24,455,661 (GRCm39)	V287A	possibly damaging	Het
Cdc37l1	A	T	19: 28,984,448 (GRCm39)	K194N	probably benign	Het
Cep126	T	C	9: 8,101,749 (GRCm39)	T262A	possibly damaging	Het
Chit1	A	G	1: 134,078,865 (GRCm39)	S392G	probably benign	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Dusp12	C	T	1: 170,708,580 (GRCm39)	R120H	probably damaging	Het
Eln	C	A	5: 134,758,508 (GRCm39)	A126S	unknown	Het
Entpd2	C	T	2: 25,288,099 (GRCm39)	P108S	probably damaging	Het
Fkbp6	C	T	5: 135,366,468 (GRCm39)		probably null	Het
Ftcd	T	A	10: 76,423,893 (GRCm39)		probably null	Het
Gdf10	T	C	14: 33,654,234 (GRCm39)	L247P	probably damaging	Het
Gigyf1	C	A	5: 137,518,594 (GRCm39)	A215E	possibly damaging	Het
Gja4	C	A	4: 127,206,623 (GRCm39)	D47Y	probably damaging	Het
Gsn	G	A	2: 35,180,349 (GRCm39)	G130E	probably damaging	Het
Hrc	C	A	7: 44,986,105 (GRCm39)	R419S	possibly damaging	Het
Itfg1	C	T	8: 86,449,306 (GRCm39)	C576Y	probably damaging	Het
Lama1	G	T	17: 68,044,502 (GRCm39)	A134S	probably damaging	Het
Larp4	T	G	15: 99,895,277 (GRCm39)	F283L	possibly damaging	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mettl18	T	A	1: 163,824,394 (GRCm39)	D238E	probably benign	Het
Mfn1	G	T	3: 32,617,575 (GRCm39)	E74*	probably null	Het
Mfn2	C	A	4: 147,979,063 (GRCm39)	E90*	probably null	Het
Mill2	T	A	7: 18,590,413 (GRCm39)	D164E	probably benign	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Nt5c1b	A	T	12: 10,424,965 (GRCm39)	R170S	probably damaging	Het
Or10ak11	T	C	4: 118,687,359 (GRCm39)	I93V	probably damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pald1	G	A	10: 61,188,750 (GRCm39)	R87W	probably damaging	Het
Paox	T	A	7: 139,713,967 (GRCm39)	Y242*	probably null	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Pitrm1	C	T	13: 6,610,161 (GRCm39)	T411I	probably damaging	Het
Pkd1l3	A	G	8: 110,350,268 (GRCm39)	Q371R	probably benign	Het
Plaat5	C	T	19: 7,590,111 (GRCm39)	R46C	probably damaging	Het
Ptprk	A	G	10: 28,082,145 (GRCm39)	D38G	possibly damaging	Het
Rag2	G	A	2: 101,460,583 (GRCm39)	E298K	probably benign	Het
Rbm12b2	G	A	4: 12,095,061 (GRCm39)	R640H	probably benign	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rims2	G	T	15: 39,341,962 (GRCm39)	E604*	probably null	Het
Rin2	A	G	2: 145,720,824 (GRCm39)	D719G	probably damaging	Het
Sash1	G	A	10: 8,662,142 (GRCm39)	Q155*	probably null	Het
Tacr1	A	T	6: 82,380,756 (GRCm39)	I56F	probably damaging	Het
Tbc1d4	G	A	14: 101,731,847 (GRCm39)	T455M	probably damaging	Het
Tex24	C	T	8: 27,834,883 (GRCm39)	T137I	probably damaging	Het
Tmem200a	A	C	10: 25,869,313 (GRCm39)	S319A	probably benign	Het
Tmem242	G	T	17: 5,483,745 (GRCm39)	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,681,446 (GRCm39)	R277H	probably benign	Het
Tmprss11f	G	A	5: 86,739,269 (GRCm39)	A4V	probably benign	Het
Triobp	T	G	15: 78,875,640 (GRCm39)		probably null	Het
Tshz2	A	T	2: 169,728,326 (GRCm39)	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Vmn2r11	A	T	5: 109,201,657 (GRCm39)	Y282*	probably null	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het

Other mutations in Or4c100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Or4c100	APN	2	88,356,104 (GRCm39)	missense	possibly damaging	0.87
IGL01727:Or4c100	APN	2	88,356,271 (GRCm39)	missense	probably benign	0.03
IGL01790:Or4c100	APN	2	88,356,767 (GRCm39)	missense	probably damaging	0.99
IGL01868:Or4c100	APN	2	88,356,059 (GRCm39)	missense	possibly damaging	0.66
IGL03146:Or4c100	APN	2	88,356,488 (GRCm39)	missense	possibly damaging	0.90
IGL03378:Or4c100	APN	2	88,356,498 (GRCm39)	nonsense	probably null
R0053:Or4c100	UTSW	2	88,356,507 (GRCm39)	missense	probably damaging	1.00
R0829:Or4c100	UTSW	2	88,356,572 (GRCm39)	missense	probably damaging	1.00
R1210:Or4c100	UTSW	2	88,356,620 (GRCm39)	missense	possibly damaging	0.89
R1754:Or4c100	UTSW	2	88,356,159 (GRCm39)	missense	probably damaging	0.99
R3426:Or4c100	UTSW	2	88,356,208 (GRCm39)	missense	probably damaging	1.00
R3781:Or4c100	UTSW	2	88,356,709 (GRCm39)	missense	probably benign	0.23
R4737:Or4c100	UTSW	2	88,356,569 (GRCm39)	missense	probably damaging	1.00
R4908:Or4c100	UTSW	2	88,356,254 (GRCm39)	missense	probably damaging	1.00
R4932:Or4c100	UTSW	2	88,356,079 (GRCm39)	missense	probably benign	0.02
R5071:Or4c100	UTSW	2	88,356,385 (GRCm39)	missense	probably damaging	1.00
R5831:Or4c100	UTSW	2	88,356,824 (GRCm39)	nonsense	probably null
R6222:Or4c100	UTSW	2	88,329,614 (GRCm39)	missense	probably benign	0.34
R6370:Or4c100	UTSW	2	88,329,712 (GRCm39)	nonsense	probably null
R6802:Or4c100	UTSW	2	88,355,941 (GRCm39)	missense	probably benign	0.02
R6931:Or4c100	UTSW	2	88,356,538 (GRCm39)	missense	possibly damaging	0.50
R7044:Or4c100	UTSW	2	88,356,830 (GRCm39)	missense	probably benign
R7121:Or4c100	UTSW	2	88,356,170 (GRCm39)	missense	probably damaging	1.00
R7166:Or4c100	UTSW	2	88,355,990 (GRCm39)	missense	possibly damaging	0.89
R7387:Or4c100	UTSW	2	88,356,744 (GRCm39)	nonsense	probably null
R7891:Or4c100	UTSW	2	88,356,289 (GRCm39)	missense	probably benign	0.04
R7951:Or4c100	UTSW	2	88,356,148 (GRCm39)	missense	probably damaging	0.98
R7978:Or4c100	UTSW	2	88,356,014 (GRCm39)	nonsense	probably null
R8016:Or4c100	UTSW	2	88,356,517 (GRCm39)	missense	probably damaging	0.99
R8039:Or4c100	UTSW	2	88,356,215 (GRCm39)	missense	probably benign	0.07
R8389:Or4c100	UTSW	2	88,355,931 (GRCm39)	start codon destroyed	probably null
R9211:Or4c100	UTSW	2	88,356,170 (GRCm39)	missense	probably benign	0.08
R9279:Or4c100	UTSW	2	88,356,211 (GRCm39)	missense	probably benign	0.01
R9691:Or4c100	UTSW	2	88,356,421 (GRCm39)	missense	probably benign	0.39
R9782:Or4c100	UTSW	2	88,356,835 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTACGGTAAGTTTCATAGTACTGC -3'
(R):5'- AGTAAGCTATGTCACAGGTCCTAG -3'

Sequencing Primer
(F):5'- CGGTAAGTTTCATAGTACTGCTTATC -3'
(R):5'- GCTATGTCACAGGTCCTAGATTATTG -3'

Posted On

2014-10-16