Mutagenetix > Incidental Mutation

Incidental Mutation 'R6222:Or4c100'

504066

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

044353-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6222 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88355845-88356934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88329614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 62 (Y62H)

Ref Sequence

ENSEMBL: ENSMUSP00000074542 (fasta)

Gene Model

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

AlphaFold

Q7TR16

Predicted Effect

probably benign
Transcript: ENSMUST00000075025
AA Change: Y62H

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074542
Gene: ENSMUSG00000057735
AA Change: Y62H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,531,923 (GRCm39)	*217W	probably null	Het
Abcc3	A	G	11: 94,259,431 (GRCm39)	F337L	probably benign	Het
Abcc4	T	A	14: 118,767,368 (GRCm39)	H903L	probably damaging	Het
Akap7	T	A	10: 25,159,844 (GRCm39)	K119*	probably null	Het
Als2	T	C	1: 59,219,284 (GRCm39)	D1222G	probably benign	Het
Ano4	T	C	10: 88,863,084 (GRCm39)	Y296C	probably damaging	Het
Arid1b	A	G	17: 5,377,922 (GRCm39)		probably null	Het
Arl10	T	C	13: 54,726,644 (GRCm39)	F141L	probably damaging	Het
B130006D01Rik	T	C	11: 95,616,988 (GRCm39)		probably benign	Het
Bbs9	T	A	9: 22,479,147 (GRCm39)	S197T	possibly damaging	Het
Bicd1	A	T	6: 149,414,463 (GRCm39)	D392V	probably damaging	Het
Bmi1	T	A	2: 18,688,513 (GRCm39)	M168K	possibly damaging	Het
C7	A	T	15: 5,041,423 (GRCm39)	D494E	possibly damaging	Het
Cacna1s	A	T	1: 136,032,360 (GRCm39)	N1221I	probably benign	Het
Cacng7	A	G	7: 3,385,128 (GRCm39)	T10A	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdpf1	T	C	15: 85,691,643 (GRCm39)	R108G	possibly damaging	Het
Ceacam5	A	T	7: 17,479,472 (GRCm39)	K196N	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Cma2	T	C	14: 56,210,649 (GRCm39)	I112T	possibly damaging	Het
Cntnap4	A	G	8: 113,569,353 (GRCm39)	S916G	probably damaging	Het
Cwf19l2	T	A	9: 3,454,569 (GRCm39)	Y627*	probably null	Het
Fam204a	A	G	19: 60,188,400 (GRCm39)		probably null	Het
Galnt1	T	A	18: 24,397,591 (GRCm39)		probably null	Het
Gbe1	T	C	16: 70,325,900 (GRCm39)		probably null	Het
Gm6871	C	T	7: 41,196,006 (GRCm39)	D244N	probably damaging	Het
Gna15	T	C	10: 81,347,880 (GRCm39)	T189A	probably damaging	Het
Igsf10	C	T	3: 59,226,336 (GRCm39)	D2446N	possibly damaging	Het
Ing2	T	C	8: 48,121,966 (GRCm39)	K194R	possibly damaging	Het
Ino80d	G	A	1: 63,097,684 (GRCm39)	H737Y	probably damaging	Het
Izumo4	C	T	10: 80,538,885 (GRCm39)	R83W	probably damaging	Het
Kcnt1	G	A	2: 25,782,522 (GRCm39)	V219M	probably damaging	Het
Kiz	A	T	2: 146,732,981 (GRCm39)	S386C	probably damaging	Het
Ldlrap1	C	T	4: 134,484,671 (GRCm39)	E108K	probably damaging	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Or2ad1	T	C	13: 21,327,047 (GRCm39)	Y60C	probably damaging	Het
Pdzd2	T	C	15: 12,374,652 (GRCm39)	K1828E	probably damaging	Het
Prl3a1	T	C	13: 27,460,097 (GRCm39)	F194L	probably benign	Het
Prss1l	A	T	6: 41,374,100 (GRCm39)	Y234F	probably damaging	Het
Reg1	A	T	6: 78,404,357 (GRCm39)	Q77L	probably benign	Het
Ruvbl2	G	T	7: 45,074,149 (GRCm39)	D248E	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Serpinb5	T	A	1: 106,798,070 (GRCm39)	C20S	probably benign	Het
Sh2d4b	A	C	14: 40,542,694 (GRCm39)	S361A	probably damaging	Het
Snx2	T	A	18: 53,332,896 (GRCm39)	L190*	probably null	Het
Sorcs3	A	T	19: 48,748,296 (GRCm39)	Y755F	possibly damaging	Het
Styxl2	G	T	1: 165,926,214 (GRCm39)	Q1133K	probably benign	Het
Tiam2	A	G	17: 3,503,613 (GRCm39)	Q930R	probably damaging	Het
Tll1	C	A	8: 64,551,568 (GRCm39)	G271V	probably benign	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Tmem181a	T	C	17: 6,351,192 (GRCm39)	V367A	probably benign	Het
Umodl1	T	C	17: 31,221,866 (GRCm39)		probably null	Het
Virma	C	T	4: 11,527,820 (GRCm39)	A1187V	probably damaging	Het
Wdr53	T	C	16: 32,075,482 (GRCm39)	V229A	probably benign	Het
Zcchc10	T	C	11: 53,223,289 (GRCm39)		probably benign	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
R2260:Or4c100	UTSW	2	88,356,730 (GRCm39)	missense	possibly damaging	0.93
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
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'- CTTCAGGGATTTCAAAGGGAAGTG -3'
(R):5'- CAATGGCCATGAGGATAAGCAC -3'

Sequencing Primer
(F):5'- TAGCCACTGATAGGATGCATAAC -3'
(R):5'- GGATAAGCACGAAGATCTCCATGC -3'

Posted On

2018-02-28