Mutagenetix > Incidental Mutation

Incidental Mutation 'R1564:Or4c104'

175081

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

039603-MU

Accession Numbers

Essential gene?

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

Stock #

R1564 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88586085-88590829 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88587000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 6 (N6K)

Ref Sequence

ENSEMBL: ENSMUSP00000149809 (fasta)

Gene Model

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

AlphaFold

Q8VF94

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099813
AA Change: N6K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097401
Gene: ENSMUSG00000089892
AA Change: N6K

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

possibly damaging
Transcript: ENSMUST00000124021
AA Change: N6K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131038
AA Change: N6K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213138
AA Change: N6K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,384,316 (GRCm39)	Q3923*	probably null	Het
Abcc12	T	A	8: 87,244,115 (GRCm39)	T1013S	probably benign	Het
Acad9	T	C	3: 36,143,578 (GRCm39)	I558T	possibly damaging	Het
Agbl4	C	A	4: 110,812,761 (GRCm39)		probably null	Het
Akr1b1	C	T	6: 34,283,470 (GRCm39)		probably null	Het
Aktip	A	G	8: 91,857,709 (GRCm39)	M1T	probably null	Het
Apc	G	T	18: 34,448,202 (GRCm39)	Q1665H	probably benign	Het
Arfgef3	T	C	10: 18,467,452 (GRCm39)	D1916G	probably damaging	Het
Arhgef11	T	C	3: 87,609,817 (GRCm39)	V365A	probably benign	Het
Bank1	C	A	3: 135,919,602 (GRCm39)	E265*	probably null	Het
Bbs7	A	T	3: 36,629,944 (GRCm39)	D578E	probably damaging	Het
Bin3	T	C	14: 70,372,218 (GRCm39)	F172L	probably damaging	Het
Bves	A	G	10: 45,245,377 (GRCm39)	D350G	probably benign	Het
Cacna1h	A	T	17: 25,596,835 (GRCm39)	C80*	probably null	Het
Cacna2d4	T	C	6: 119,218,156 (GRCm39)	F164L	possibly damaging	Het
Cenpj	T	C	14: 56,789,523 (GRCm39)	D842G	probably benign	Het
Col12a1	C	A	9: 79,521,122 (GRCm39)	R2781L	probably damaging	Het
Cyp2c68	A	T	19: 39,724,024 (GRCm39)	C213*	probably null	Het
Defb33	T	A	8: 21,387,597 (GRCm39)	C45S	possibly damaging	Het
Dolk	A	T	2: 30,175,633 (GRCm39)	N137K	probably damaging	Het
Fam171b	G	A	2: 83,710,628 (GRCm39)	E767K	probably damaging	Het
Fbxl20	A	T	11: 97,989,312 (GRCm39)	D189E	probably damaging	Het
Gm10643	A	T	8: 84,791,111 (GRCm39)	M1K	probably null	Het
Gm572	T	G	4: 148,735,643 (GRCm39)	I24S	possibly damaging	Het
Gnpda1	A	G	18: 38,471,142 (GRCm39)		probably null	Het
Gpr141b	T	C	13: 19,913,470 (GRCm39)		noncoding transcript	Het
Helz2	G	T	2: 180,875,021 (GRCm39)	N1824K	probably benign	Het
Insl3	G	T	8: 72,142,935 (GRCm39)	A99S	possibly damaging	Het
Lpin2	G	A	17: 71,532,055 (GRCm39)	V137I	probably benign	Het
Lrrc9	A	G	12: 72,533,827 (GRCm39)	E1032G	probably damaging	Het
Macf1	T	C	4: 123,353,150 (GRCm39)	T1510A	probably benign	Het
Mnd1	T	C	3: 84,023,738 (GRCm39)	E116G	probably benign	Het
Mycbp2	A	G	14: 103,407,287 (GRCm39)		probably null	Het
Myoz3	G	A	18: 60,713,914 (GRCm39)	S23L	probably benign	Het
Napsa	G	T	7: 44,236,073 (GRCm39)	V371F	probably damaging	Het
Nefh	T	C	11: 4,889,878 (GRCm39)	T914A	unknown	Het
Neurod2	A	T	11: 98,218,250 (GRCm39)	C305S	probably damaging	Het
Nmnat3	T	C	9: 98,236,219 (GRCm39)		probably null	Het
Nuf2	A	G	1: 169,326,362 (GRCm39)	V463A	unknown	Het
Olfml1	A	T	7: 107,170,346 (GRCm39)	T78S	possibly damaging	Het
Opcml	G	A	9: 28,814,612 (GRCm39)	C288Y	probably damaging	Het
Oprl1	T	C	2: 181,360,733 (GRCm39)	I222T	possibly damaging	Het
Or13a28	G	A	7: 140,217,967 (GRCm39)	V118I	probably benign	Het
Or4c122	G	T	2: 89,080,016 (GRCm39)	N7K	probably benign	Het
Or6c210	T	C	10: 129,495,884 (GRCm39)	F70L	probably benign	Het
Pcsk5	A	G	19: 17,632,120 (GRCm39)	Y349H	probably damaging	Het
Pla2g4d	C	A	2: 120,099,384 (GRCm39)	R706L	possibly damaging	Het
Pmm1	A	G	15: 81,840,401 (GRCm39)	Y55H	probably damaging	Het
Polb	A	G	8: 23,120,357 (GRCm39)		probably null	Het
Pom121l2	T	C	13: 22,167,523 (GRCm39)	I598T	possibly damaging	Het
Pxmp2	C	T	5: 110,429,062 (GRCm39)		probably null	Het
Rbm39	G	T	2: 155,996,177 (GRCm39)	L403I	probably benign	Het
Rec8	T	C	14: 55,859,732 (GRCm39)		probably null	Het
Reck	T	C	4: 43,912,061 (GRCm39)	I190T	probably benign	Het
Rer1	A	T	4: 155,160,050 (GRCm39)	I166N	probably damaging	Het
Rgs17	T	A	10: 5,792,567 (GRCm39)	K60*	probably null	Het
Ripor2	C	T	13: 24,859,768 (GRCm39)	T152M	probably damaging	Het
Scgb1b2	A	T	7: 30,991,200 (GRCm39)		probably benign	Het
Scn3a	C	A	2: 65,344,979 (GRCm39)	R503M	probably damaging	Het
Scn4a	C	A	11: 106,236,367 (GRCm39)	D298Y	probably benign	Het
Scn9a	A	G	2: 66,314,648 (GRCm39)	F1679S	probably damaging	Het
Scyl3	G	T	1: 163,767,553 (GRCm39)		probably null	Het
Sec23ip	A	G	7: 128,368,005 (GRCm39)		probably null	Het
She	C	T	3: 89,756,921 (GRCm39)	A325V	possibly damaging	Het
Skint2	T	G	4: 112,483,195 (GRCm39)	M200R	probably damaging	Het
Slc17a5	A	T	9: 78,485,981 (GRCm39)	C35S	probably damaging	Het
Slc25a24	T	A	3: 109,070,819 (GRCm39)	S393T	probably damaging	Het
Slc6a19	C	T	13: 73,834,243 (GRCm39)	V320M	probably damaging	Het
Snap91	T	C	9: 86,674,249 (GRCm39)	D579G	possibly damaging	Het
Spats2l	C	T	1: 57,985,383 (GRCm39)	R479C	probably damaging	Het
Syngr3	G	C	17: 24,905,642 (GRCm39)		probably null	Het
Tas2r107	A	C	6: 131,636,785 (GRCm39)	I88R	probably damaging	Het
Them7	A	T	2: 105,128,259 (GRCm39)	N80I	probably damaging	Het
Tmprss7	C	T	16: 45,482,516 (GRCm39)		probably null	Het
Tnrc6b	A	G	15: 80,764,369 (GRCm39)	N624D	possibly damaging	Het
Trpm2	T	G	10: 77,778,833 (GRCm39)	I378L	probably benign	Het
Ttn	C	A	2: 76,554,876 (GRCm39)	W30676L	probably damaging	Het
Ttn	A	G	2: 76,774,384 (GRCm39)	V2220A	unknown	Het
Uba6	T	C	5: 86,302,266 (GRCm39)	T134A	probably benign	Het
Vmn2r55	A	G	7: 12,418,678 (GRCm39)	S81P	probably damaging	Het
Zfp616	T	A	11: 73,975,548 (GRCm39)	S606T	probably damaging	Het
Zfp653	C	A	9: 21,967,155 (GRCm39)	A577S	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
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
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'- GAAATACATGGGACTCCCAAGAGCC -3'
(R):5'- GGTAATTTCACCTCATCATTGCCAAGC -3'

Sequencing Primer
(F):5'- CTGGCTTGTCTTGACAGTAACAATG -3'
(R):5'- cttcgtttccatttcaaatgctatc -3'

Posted On

2014-04-24