Mutagenetix > Incidental Mutation

Incidental Mutation 'R6522:Or4c104'

521342

Institutional Source

Beutler Lab

Gene Symbol

Or4c104

Ensembl Gene

ENSMUSG00000089892

Gene Name

olfactory receptor family 4 subfamily C member 104

Synonyms

GA_x6K02T2Q125-50231574-50230642, Olfr1199, MOR230-8

MMRRC Submission

044648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6522 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88586085-88590829 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88586452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 189 (D189G)

Ref Sequence

ENSEMBL: ENSMUSP00000149809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099813] [ENSMUST00000124021] [ENSMUST00000131038] [ENSMUST00000213138] [ENSMUST00000215179] [ENSMUST00000215529]

AlphaFold

Q8VF94

Predicted Effect

probably damaging
Transcript: ENSMUST00000099813
AA Change: D189G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097401
Gene: ENSMUSG00000089892
AA Change: D189G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	4.4e-48	PFAM
Pfam:7tm_1	39	285	4.4e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000124021
AA Change: D189G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000131038
AA Change: D189G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213138
AA Change: D189G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000215179

Predicted Effect

probably benign
Transcript: ENSMUST00000215529

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	A	10: 10,253,636 (GRCm39)	E1209*	probably null	Het
Adgrg5	G	T	8: 95,668,696 (GRCm39)	R503L	probably benign	Het
Anks1b	C	T	10: 90,733,189 (GRCm39)		probably benign	Het
Anxa5	A	T	3: 36,519,451 (GRCm39)	F13I	probably damaging	Het
Bicd1	A	G	6: 149,385,503 (GRCm39)	I79V	probably benign	Het
Bnip1	A	G	17: 27,008,719 (GRCm39)	D107G	probably damaging	Het
Ccdc42	A	G	11: 68,479,046 (GRCm39)	E78G	probably damaging	Het
Ccnk	A	G	12: 108,153,446 (GRCm39)	D69G	probably damaging	Het
Clec2i	G	T	6: 128,870,692 (GRCm39)	V77F	probably damaging	Het
Clec4g	A	C	8: 3,768,803 (GRCm39)	V62G	probably benign	Het
Col4a4	G	A	1: 82,465,304 (GRCm39)	A957V	unknown	Het
Csnk1d	A	G	11: 120,862,449 (GRCm39)	F277L	probably damaging	Het
Dip2c	G	A	13: 9,625,264 (GRCm39)		probably null	Het
Dpf2	T	A	19: 5,955,560 (GRCm39)	K108*	probably null	Het
Dync1h1	G	A	12: 110,583,171 (GRCm39)	D423N	probably damaging	Het
Fbxl13	T	C	5: 21,766,554 (GRCm39)		probably null	Homo
Flad1	T	C	3: 89,310,490 (GRCm39)	R488G	probably damaging	Het
Galnt6	A	C	15: 100,591,236 (GRCm39)	*623E	probably null	Het
Gtf2e1	T	C	16: 37,331,816 (GRCm39)	T420A	possibly damaging	Het
Hspg2	T	C	4: 137,282,586 (GRCm39)	V3442A	probably damaging	Het
Itpr1	A	G	6: 108,365,237 (GRCm39)	D55G	probably damaging	Het
Kdm2a	C	A	19: 4,374,854 (GRCm39)	R759L	possibly damaging	Het
Kif19a	A	G	11: 114,676,605 (GRCm39)	E478G	probably damaging	Het
Lamb3	G	A	1: 193,017,761 (GRCm39)	V881I	probably benign	Het
Map3k6	T	C	4: 132,977,335 (GRCm39)	L894P	possibly damaging	Het
Mast4	A	G	13: 102,897,801 (GRCm39)		probably null	Het
Mst1r	G	A	9: 107,790,438 (GRCm39)	V684M	probably benign	Het
Naa15	T	C	3: 51,378,935 (GRCm39)	S727P	probably damaging	Het
Nap1l1	T	C	10: 111,330,084 (GRCm39)	L330S	probably damaging	Het
Nav2	A	G	7: 49,247,281 (GRCm39)	T2205A	probably damaging	Het
Ncf2	T	C	1: 152,703,214 (GRCm39)		probably null	Het
Opa1	T	A	16: 29,444,332 (GRCm39)	N839K	probably benign	Het
Or52a33	T	C	7: 103,288,504 (GRCm39)	Y281C	probably damaging	Het
Or52n4b	G	A	7: 108,144,202 (GRCm39)	V155I	probably benign	Het
Pcdha7	T	C	18: 37,106,995 (GRCm39)	Y7H	possibly damaging	Het
Pcdhb15	T	C	18: 37,607,314 (GRCm39)	V182A	probably benign	Het
Phf10	A	T	17: 15,176,269 (GRCm39)	I128N	probably damaging	Het
Plce1	T	A	19: 38,736,965 (GRCm39)		probably null	Het
Plxnb2	T	C	15: 89,048,629 (GRCm39)	N626S	probably benign	Het
Prh1	G	A	6: 132,548,996 (GRCm39)	G168R	unknown	Het
Prss51	A	G	14: 64,334,855 (GRCm39)	T137A	possibly damaging	Het
Ptprcap	C	T	19: 4,206,183 (GRCm39)	R89C	possibly damaging	Het
Scfd1	A	G	12: 51,478,324 (GRCm39)	K512R	probably benign	Het
Serpina1b	A	C	12: 103,701,296 (GRCm39)		probably null	Het
Setbp1	T	C	18: 78,900,605 (GRCm39)	T1021A	probably damaging	Het
Slco1b2	G	A	6: 141,601,145 (GRCm39)		probably null	Het
Snrnp200	C	T	2: 127,063,747 (GRCm39)	T642I	probably benign	Het
Tenm4	A	C	7: 96,492,251 (GRCm39)	I1063L	possibly damaging	Het
Tfb2m	G	A	1: 179,373,611 (GRCm39)	A29V	probably benign	Het
Tfeb	T	C	17: 48,100,627 (GRCm39)	V140A	probably damaging	Het
Tmem104	A	T	11: 115,134,579 (GRCm39)	I372F	probably damaging	Het
Tmem132d	G	T	5: 127,860,832 (GRCm39)	H1096Q	probably benign	Het
Trim12c	A	T	7: 103,997,531 (GRCm39)	N8K	probably benign	Het
Tti2	A	G	8: 31,643,631 (GRCm39)	I249V	probably null	Het
Vps8	T	A	16: 21,261,129 (GRCm39)	L90I	probably damaging	Het
Vwf	A	T	6: 125,639,926 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,868,901 (GRCm39)	S376P	probably damaging	Het

Other mutations in Or4c104

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Or4c104	APN	2	88,586,500 (GRCm39)	missense	possibly damaging	0.83
IGL03197:Or4c104	APN	2	88,586,545 (GRCm39)	missense	probably damaging	0.99
R0282:Or4c104	UTSW	2	88,586,800 (GRCm39)	missense	probably damaging	1.00
R1564:Or4c104	UTSW	2	88,587,000 (GRCm39)	missense	possibly damaging	0.81
R1750:Or4c104	UTSW	2	88,586,117 (GRCm39)	missense	probably benign
R2139:Or4c104	UTSW	2	88,586,437 (GRCm39)	missense	probably damaging	1.00
R4059:Or4c104	UTSW	2	88,586,795 (GRCm39)	missense	probably benign
R4722:Or4c104	UTSW	2	88,586,356 (GRCm39)	missense	possibly damaging	0.47
R4787:Or4c104	UTSW	2	88,586,219 (GRCm39)	nonsense	probably null
R5595:Or4c104	UTSW	2	88,586,749 (GRCm39)	missense	probably damaging	0.97
R6825:Or4c104	UTSW	2	88,586,255 (GRCm39)	missense	possibly damaging	0.78
R8205:Or4c104	UTSW	2	88,587,016 (GRCm39)	start codon destroyed	probably null	0.94
R8302:Or4c104	UTSW	2	88,586,987 (GRCm39)	missense	possibly damaging	0.70
R8413:Or4c104	UTSW	2	88,587,024 (GRCm39)	start gained	probably benign
R9400:Or4c104	UTSW	2	88,586,293 (GRCm39)	missense	possibly damaging	0.50
R9560:Or4c104	UTSW	2	88,586,290 (GRCm39)	missense	possibly damaging	0.56
Z1176:Or4c104	UTSW	2	88,586,141 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAAATGTTGTTGCAGGGC -3'
(R):5'- ATGTGGCCATCTGTAAACCCC -3'

Sequencing Primer
(F):5'- TTGCAGGGCGTGTATATATAAAGATG -3'
(R):5'- TCTGTAAACCCCTGCACTACATG -3'

Posted On

2018-06-06