Mutagenetix > Incidental Mutation

Incidental Mutation 'R8205:Or4c104'

635849

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

067628-MU

Accession Numbers

Essential gene?

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

Stock #

R8205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88586085-88590829 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 88587016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000097401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099813]

AlphaFold

Q8VF94

Predicted Effect

probably null
Transcript: ENSMUST00000099813
AA Change: M1K

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

SMART Domains

Protein: ENSMUSP00000097401
Gene: ENSMUSG00000089892
AA Change: M1K

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

Meta Mutation Damage Score

0.9642

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 41,278,080 (GRCm39)	V157A	probably benign	Het
Adamtsl1	A	G	4: 86,117,650 (GRCm39)	*204W	probably null	Het
Add2	A	G	6: 86,063,899 (GRCm39)	E66G	probably damaging	Het
Adgrd1	A	G	5: 129,192,175 (GRCm39)	T114A	possibly damaging	Het
Aldh7a1	A	T	18: 56,678,070 (GRCm39)	I247N	probably damaging	Het
Ankrd13d	A	T	19: 4,331,009 (GRCm39)	M166K	probably damaging	Het
Brd7	A	G	8: 89,070,243 (GRCm39)	F388L	probably damaging	Het
Cap2	G	A	13: 46,768,739 (GRCm39)	V182M	probably damaging	Het
Col22a1	A	T	15: 71,732,918 (GRCm39)	V1100E	unknown	Het
Cracdl	T	C	1: 37,664,047 (GRCm39)	D617G	probably benign	Het
Crisp2	T	C	17: 41,095,969 (GRCm39)	E63G	possibly damaging	Het
Dst	T	G	1: 34,253,685 (GRCm39)	W2304G	probably damaging	Het
Eif2a	A	C	3: 58,456,156 (GRCm39)	N385T	probably damaging	Het
Eif4ebp2	A	T	10: 61,270,704 (GRCm39)	H108Q	probably benign	Het
Fgd3	T	C	13: 49,449,823 (GRCm39)	D142G	probably benign	Het
Gbp8	T	A	5: 105,198,846 (GRCm39)	H23L	probably benign	Het
Glt1d1	A	G	5: 127,768,080 (GRCm39)	E229G	probably benign	Het
Gpatch8	T	C	11: 102,371,213 (GRCm39)	D775G	unknown	Het
Heatr1	T	C	13: 12,430,928 (GRCm39)	Y1008H	probably benign	Het
Heatr5a	T	A	12: 52,005,792 (GRCm39)	N61I	probably benign	Het
Hydin	A	T	8: 111,319,270 (GRCm39)	H4391L	possibly damaging	Het
Ifi206	T	C	1: 173,309,450 (GRCm39)	E182G		Het
Mbtps1	A	G	8: 120,247,077 (GRCm39)	S789P	probably damaging	Het
Mex3a	T	C	3: 88,444,159 (GRCm39)	S412P	possibly damaging	Het
Msantd5f1	G	A	4: 73,605,542 (GRCm39)	V318I	possibly damaging	Het
Mup2	T	A	4: 60,137,659 (GRCm39)	D128V	probably benign	Het
Ndufaf7	G	A	17: 79,254,461 (GRCm39)	C418Y	probably benign	Het
Nlrp4a	A	G	7: 26,150,219 (GRCm39)	S609G	probably benign	Het
Obscn	T	A	11: 58,898,697 (GRCm39)	Y6554F	unknown	Het
Odf2l	A	G	3: 144,856,495 (GRCm39)		probably benign	Het
Or14j2	A	T	17: 37,885,892 (GRCm39)	C141S	probably damaging	Het
Or1o11	T	C	17: 37,757,180 (GRCm39)	V245A	probably damaging	Het
Plod2	G	T	9: 92,424,371 (GRCm39)		probably benign	Het
Ptgfr	A	G	3: 151,541,418 (GRCm39)	V30A	probably benign	Het
Pxdn	T	G	12: 30,056,566 (GRCm39)	L1259R	probably damaging	Het
Rnf6	A	G	5: 146,147,714 (GRCm39)	S435P	probably damaging	Het
Sacm1l	G	A	9: 123,415,724 (GRCm39)		probably null	Het
Scgb2b26	T	C	7: 33,643,833 (GRCm39)	T36A	probably benign	Het
Slc1a7	A	G	4: 107,865,508 (GRCm39)	N332S	probably benign	Het
Slfn5	T	C	11: 82,851,544 (GRCm39)	F614L	probably benign	Het
Smad7	C	A	18: 75,527,119 (GRCm39)	Q322K	probably damaging	Het
Smap1	T	C	1: 23,888,507 (GRCm39)	T253A	probably benign	Het
Socs5	G	T	17: 87,441,138 (GRCm39)	R26L	probably benign	Het
Steap4	A	T	5: 8,026,795 (GRCm39)	I253F	possibly damaging	Het
Tacc1	G	A	8: 25,672,803 (GRCm39)	H142Y	probably benign	Het
Tent5c	A	G	3: 100,380,138 (GRCm39)	F206S	probably benign	Het
Tmem117	G	A	15: 94,992,679 (GRCm39)	M446I	probably benign	Het
Trav7-6	G	A	14: 53,954,550 (GRCm39)	D47N	probably benign	Het
Trim2	C	A	3: 84,100,646 (GRCm39)	A162S	probably damaging	Het
Ttc28	A	G	5: 111,373,596 (GRCm39)	I1011V	possibly damaging	Het
Vmn2r98	T	C	17: 19,301,425 (GRCm39)	V809A	probably damaging	Het
Wfikkn1	T	A	17: 26,097,071 (GRCm39)	T418S	probably benign	Het
Zbtb41	T	A	1: 139,356,919 (GRCm39)	D391E	possibly damaging	Het
Zfp109	G	A	7: 23,928,635 (GRCm39)	S266F	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
R6522:Or4c104	UTSW	2	88,586,452 (GRCm39)	missense	probably damaging	0.99
R6825:Or4c104	UTSW	2	88,586,255 (GRCm39)	missense	possibly damaging	0.78
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'- GGAAGAAATACATGGGACTCCC -3'
(R):5'- TTGGGTTTCTTGAAACTGCAGAC -3'

Sequencing Primer
(F):5'- CAAGAGCCTGGCTTGTCTTGAC -3'
(R):5'- AGAGTGGGTAAACAGTTCAATAATC -3'

Posted On

2020-07-13