Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03036:Or4c110'

408658

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4c110

Ensembl Gene

ENSMUSG00000100016

Gene Name

olfactory receptor family 4 subfamily C member 110

Synonyms

MOR233-13, Olfr1215, GA_x6K02T2Q125-50482823-50481885

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL03036

Quality Score

Status

Chromosome

Chromosomal Location

88831692-88832634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88832459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 58 (M58V)

Ref Sequence

ENSEMBL: ENSMUSP00000150030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000188399] [ENSMUST00000214809] [ENSMUST00000216271]

AlphaFold

A3KGY3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188399
AA Change: M58V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141134
Gene: ENSMUSG00000100016
AA Change: M58V

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
Pfam:7tm_1	39	286	1.9e-25	PFAM
Pfam:7tm_4	138	283	1.7e-38	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214809
AA Change: M58V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216271
AA Change: M58V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	A	T	10: 80,421,534 (GRCm39)	Y145*	probably null	Het
Afdn	T	G	17: 14,108,350 (GRCm39)	I1291S	probably benign	Het
Arfgap3	T	G	15: 83,191,127 (GRCm39)	I16L	possibly damaging	Het
Bbs12	T	A	3: 37,373,343 (GRCm39)	H45Q	possibly damaging	Het
Brpf3	T	C	17: 29,043,022 (GRCm39)	L1021P	possibly damaging	Het
Cep170	A	G	1: 176,596,903 (GRCm39)	S485P	possibly damaging	Het
Cgref1	A	T	5: 31,090,937 (GRCm39)	N292K	probably damaging	Het
Chst3	A	T	10: 60,022,261 (GRCm39)	Y195*	probably null	Het
Clmn	T	C	12: 104,740,782 (GRCm39)	Y125C	probably damaging	Het
Col13a1	A	G	10: 61,729,692 (GRCm39)		probably null	Het
Cpeb3	A	T	19: 37,002,348 (GRCm39)	I688N	probably damaging	Het
Cpn2	A	T	16: 30,079,647 (GRCm39)	L18H	probably benign	Het
Crybg3	T	A	16: 59,375,542 (GRCm39)	H1904L	possibly damaging	Het
Csde1	C	T	3: 102,951,155 (GRCm39)	P249S	probably damaging	Het
Dcaf1	T	C	9: 106,721,339 (GRCm39)	L377P	probably damaging	Het
Dmwd	A	T	7: 18,815,054 (GRCm39)	K568M	probably damaging	Het
Dsg2	T	C	18: 20,712,134 (GRCm39)	I90T	probably damaging	Het
Dytn	A	G	1: 63,680,281 (GRCm39)	I426T	probably damaging	Het
Edc4	G	A	8: 106,613,943 (GRCm39)		probably null	Het
Elac1	G	T	18: 73,871,985 (GRCm39)	Q337K	probably benign	Het
Exd2	G	T	12: 80,536,185 (GRCm39)	A272S	probably damaging	Het
F13b	A	G	1: 139,435,853 (GRCm39)	I220V	possibly damaging	Het
Fblim1	G	T	4: 141,310,435 (GRCm39)	R276S	possibly damaging	Het
Fn1	A	C	1: 71,668,932 (GRCm39)	L671R	probably damaging	Het
Frem1	A	T	4: 82,877,576 (GRCm39)	F1334I	possibly damaging	Het
H2-T23	T	A	17: 36,343,249 (GRCm39)	I43F	possibly damaging	Het
Hp1bp3	G	A	4: 137,956,043 (GRCm39)	G202D	probably damaging	Het
Kdm5b	A	G	1: 134,536,675 (GRCm39)	M632V	probably damaging	Het
Klra5	T	A	6: 129,885,830 (GRCm39)	S20C	probably damaging	Het
Lancl1	A	T	1: 67,046,074 (GRCm39)	C276S	probably damaging	Het
Lect2	A	G	13: 56,690,520 (GRCm39)	*152Q	probably null	Het
Maff	C	A	15: 79,241,658 (GRCm39)	S25*	probably null	Het
Mtr	A	G	13: 12,262,263 (GRCm39)	L171P	probably damaging	Het
Ndufs1	A	T	1: 63,202,855 (GRCm39)	Y236*	probably null	Het
Neb	A	C	2: 52,134,165 (GRCm39)	Y3273D	probably damaging	Het
Nup133	A	T	8: 124,673,333 (GRCm39)	I66K	probably benign	Het
Psmd14	A	G	2: 61,614,205 (GRCm39)	Y200C	probably damaging	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Ptk2b	T	A	14: 66,411,344 (GRCm39)		probably benign	Het
Pum3	G	A	19: 27,398,713 (GRCm39)	T279M	probably damaging	Het
Rabl6	C	T	2: 25,474,868 (GRCm39)	G614D	probably benign	Het
Ripk3	T	C	14: 56,024,796 (GRCm39)	D128G	probably benign	Het
Serinc4	A	T	2: 121,270,039 (GRCm39)		probably benign	Het
Slco1a8	T	G	6: 141,954,333 (GRCm39)	I47L	possibly damaging	Het
Sorbs2	T	C	8: 46,235,902 (GRCm39)	S322P	probably benign	Het
Spmap2l	A	C	5: 77,164,197 (GRCm39)	K67Q	possibly damaging	Het
Srebf1	A	T	11: 60,111,284 (GRCm39)	I29N	possibly damaging	Het
Stk38l	T	C	6: 146,670,372 (GRCm39)	L238S	probably damaging	Het
Supt20	T	A	3: 54,616,723 (GRCm39)	C298*	probably null	Het
Tbc1d19	A	G	5: 54,054,389 (GRCm39)	D459G	probably damaging	Het
Ulk2	A	T	11: 61,725,660 (GRCm39)	L139M	probably damaging	Het
Unc13b	A	G	4: 43,235,249 (GRCm39)	N3279S	probably damaging	Het
Ush2a	A	G	1: 188,596,818 (GRCm39)	R3853G	possibly damaging	Het
Usp7	C	T	16: 8,556,078 (GRCm39)	M24I	probably benign	Het
Vil1	A	G	1: 74,458,771 (GRCm39)	T131A	probably damaging	Het
Vmn2r2	C	T	3: 64,024,321 (GRCm39)	M753I	probably benign	Het
Vmn2r74	A	T	7: 85,601,900 (GRCm39)	Y579*	probably null	Het
Zdhhc3	A	T	9: 122,929,582 (GRCm39)	Y18N	probably damaging	Het
Zfp609	C	T	9: 65,609,927 (GRCm39)	S1012N	possibly damaging	Het
Zfr2	A	T	10: 81,077,985 (GRCm39)	M271L	probably benign	Het

Other mutations in Or4c110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Or4c110	APN	2	88,831,683 (GRCm39)	utr 3 prime	probably benign
IGL02395:Or4c110	APN	2	88,832,507 (GRCm39)	missense	probably benign	0.00
IGL02399:Or4c110	APN	2	88,832,507 (GRCm39)	missense	probably benign	0.00
IGL02409:Or4c110	APN	2	88,832,254 (GRCm39)	missense	possibly damaging	0.75
IGL02421:Or4c110	APN	2	88,831,688 (GRCm39)	splice site	probably null
R2036:Or4c110	UTSW	2	88,831,976 (GRCm39)	missense	probably damaging	0.97
R2199:Or4c110	UTSW	2	88,831,894 (GRCm39)	missense	probably damaging	0.98
R3930:Or4c110	UTSW	2	88,832,377 (GRCm39)	missense	probably benign	0.32
R4990:Or4c110	UTSW	2	88,831,816 (GRCm39)	missense	probably damaging	0.97
R5199:Or4c110	UTSW	2	88,832,107 (GRCm39)	missense	possibly damaging	0.70
R5368:Or4c110	UTSW	2	88,832,435 (GRCm39)	missense	probably damaging	1.00
R5396:Or4c110	UTSW	2	88,832,540 (GRCm39)	missense	probably benign	0.15
R6881:Or4c110	UTSW	2	88,832,281 (GRCm39)	missense	probably damaging	1.00
R7195:Or4c110	UTSW	2	88,832,075 (GRCm39)	missense
R7425:Or4c110	UTSW	2	88,832,544 (GRCm39)	missense
R7804:Or4c110	UTSW	2	88,831,855 (GRCm39)	missense	unknown
R7976:Or4c110	UTSW	2	88,831,973 (GRCm39)	missense	probably damaging	0.97
R8094:Or4c110	UTSW	2	88,832,712 (GRCm39)	start gained	probably benign
R8716:Or4c110	UTSW	2	88,832,060 (GRCm39)	missense
R8737:Or4c110	UTSW	2	88,832,351 (GRCm39)	nonsense	probably null
R9485:Or4c110	UTSW	2	88,831,709 (GRCm39)	missense	unknown
R9721:Or4c110	UTSW	2	88,832,060 (GRCm39)	missense
Z1088:Or4c110	UTSW	2	88,832,182 (GRCm39)	missense	possibly damaging	0.94

Posted On

2016-08-02