Mutagenetix > Incidental Mutation

Incidental Mutation 'R4975:Or4c117'

382550

Institutional Source

Beutler Lab

Gene Symbol

Or4c117

Ensembl Gene

ENSMUSG00000075101

Gene Name

olfactory receptor family 4 subfamily C member 117

Synonyms

MOR233-14, Olfr1222, GA_x6K02T2Q125-50604368-50603433

MMRRC Submission

042570-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88955138-88956073 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88955682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 131 (Y131C)

Ref Sequence

ENSEMBL: ENSMUSP00000150144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099794] [ENSMUST00000214027] [ENSMUST00000215816]

AlphaFold

Q7TR02

Predicted Effect

probably damaging
Transcript: ENSMUST00000099794
AA Change: Y131C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097382
Gene: ENSMUSG00000075101
AA Change: Y131C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.3e-44	PFAM
Pfam:7tm_1	39	286	4.8e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000137595
AA Change: Y131C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120074
Gene: ENSMUSG00000075101
AA Change: Y131C

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	217	1.9e-22	PFAM
Pfam:7tm_4	138	217	1.4e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214027
AA Change: Y131C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215816
AA Change: Y131C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.5523

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.8%

Validation Efficiency

100% (81/81)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	C	3: 59,840,161 (GRCm39)	T78P	probably damaging	Het
Abcc8	T	C	7: 45,800,291 (GRCm39)	K497R	probably damaging	Het
Aldh1a3	C	T	7: 66,068,927 (GRCm39)	R19Q	possibly damaging	Het
Bmp2k	A	G	5: 97,234,944 (GRCm39)		probably benign	Het
Ccni	A	T	5: 93,335,553 (GRCm39)	L195Q	possibly damaging	Het
Cdkl4	C	A	17: 80,832,764 (GRCm39)	G327*	probably null	Het
Cdsn	T	C	17: 35,866,326 (GRCm39)	V285A	possibly damaging	Het
Cfap20dc	A	G	14: 8,518,736 (GRCm38)	V240A	probably benign	Het
Chtf18	T	C	17: 25,943,540 (GRCm39)	E352G	possibly damaging	Het
Clasp2	T	A	9: 113,732,984 (GRCm39)	I961N	probably damaging	Het
Cpsf2	A	G	12: 101,949,752 (GRCm39)	Q128R	probably damaging	Het
Cttnbp2	C	A	6: 18,406,525 (GRCm39)	Q1055H	possibly damaging	Het
Cyld	T	G	8: 89,433,860 (GRCm39)	F216L	probably benign	Het
Cyp3a41a	A	G	5: 145,656,858 (GRCm39)	M1T	probably null	Het
Disp3	C	T	4: 148,328,673 (GRCm39)	R1097H	possibly damaging	Het
Dmap1	T	C	4: 117,538,233 (GRCm39)	D67G	possibly damaging	Het
Dnah8	T	C	17: 30,875,959 (GRCm39)	F529L	probably benign	Het
Ergic3	T	C	2: 155,859,638 (GRCm39)		probably null	Het
Fkbp14	A	G	6: 54,569,943 (GRCm39)	I29T	probably benign	Het
Gm4845	T	A	1: 141,184,623 (GRCm39)		noncoding transcript	Het
Gm7135	A	T	1: 97,281,801 (GRCm39)		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,318,704 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,424,481 (GRCm39)	I57F	probably damaging	Het
Hectd1	A	G	12: 51,809,280 (GRCm39)	V1722A	probably benign	Het
Hmcn2	A	G	2: 31,283,037 (GRCm39)	D1971G	possibly damaging	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Itih4	T	A	14: 30,614,244 (GRCm39)	I398N	probably damaging	Het
Kansl1	A	T	11: 104,226,390 (GRCm39)	S922R	probably damaging	Het
Krt27	G	A	11: 99,237,722 (GRCm39)	Q339*	probably null	Het
Lama1	C	A	17: 68,045,829 (GRCm39)	L245I	possibly damaging	Het
Lmo2	T	A	2: 103,806,488 (GRCm39)	C60*	probably null	Het
Med16	A	G	10: 79,738,839 (GRCm39)	S316P	possibly damaging	Het
Mia3	T	C	1: 183,111,970 (GRCm39)	N529S	probably benign	Het
Msi2	T	C	11: 88,285,481 (GRCm39)	K188E	probably damaging	Het
Myh7	T	C	14: 55,209,128 (GRCm39)	K1870R	probably damaging	Het
Nhlrc1	A	G	13: 47,167,216 (GRCm39)	V347A	probably benign	Het
Nol6	C	T	4: 41,120,167 (GRCm39)	R487H	probably benign	Het
Or4k41	T	C	2: 111,280,028 (GRCm39)	I181T	probably benign	Het
Or52h1	A	T	7: 103,828,736 (GRCm39)	V293D	probably damaging	Het
Or5d18	T	C	2: 87,865,005 (GRCm39)	I159M	probably benign	Het
Or6c205	T	C	10: 129,087,141 (GRCm39)	I246T	probably damaging	Het
Otog	T	C	7: 45,937,415 (GRCm39)	V1708A	probably benign	Het
Ptprv	A	G	1: 135,046,586 (GRCm39)		noncoding transcript	Het
Pus7l	A	G	15: 94,427,369 (GRCm39)	V471A	possibly damaging	Het
Rab11fip4	A	G	11: 79,510,497 (GRCm39)	R68G	probably damaging	Het
Ralgapb	A	G	2: 158,277,428 (GRCm39)	D264G	possibly damaging	Het
Reln	A	G	5: 22,165,424 (GRCm39)	S2045P	probably damaging	Het
Rgs22	A	C	15: 36,055,022 (GRCm39)	Y593*	probably null	Het
Ror2	C	T	13: 53,285,954 (GRCm39)	D87N	probably damaging	Het
Rps6ka4	A	T	19: 6,817,678 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,082,209 (GRCm39)		probably null	Het
Runx3	A	G	4: 134,898,446 (GRCm39)	T206A	probably benign	Het
Setx	A	G	2: 29,054,562 (GRCm39)	E2158G	probably damaging	Het
Siglece	C	T	7: 43,308,396 (GRCm39)		probably null	Het
Slco1a8	T	C	6: 141,926,599 (GRCm39)	S576G	probably benign	Het
Snx1	A	T	9: 66,012,187 (GRCm39)	L96*	probably null	Het
Srrm1	A	G	4: 135,074,031 (GRCm39)		probably benign	Het
Stk39	A	T	2: 68,051,336 (GRCm39)		probably benign	Het
Sun3	G	A	11: 8,988,311 (GRCm39)	R4*	probably null	Het
Svil	A	G	18: 5,054,025 (GRCm39)	K347E	possibly damaging	Het
Sybu	T	A	15: 44,541,063 (GRCm39)	E333V	probably damaging	Het
Tet2	A	G	3: 133,192,520 (GRCm39)		probably benign	Het
Tfip11	G	T	5: 112,483,613 (GRCm39)		probably benign	Het
Tmc1	A	C	19: 20,884,319 (GRCm39)	D40E	probably damaging	Het
Twf2	G	T	9: 106,089,539 (GRCm39)	G121W	probably damaging	Het
Vpreb3	A	G	10: 75,775,636 (GRCm39)	V50A	probably damaging	Het
Vps8	T	A	16: 21,285,219 (GRCm39)	L400Q	probably damaging	Het
Xylt1	A	T	7: 117,266,565 (GRCm39)	Y861F	probably damaging	Het
Zfp608	T	G	18: 55,022,962 (GRCm39)	T1485P	probably damaging	Het
Zfp619	T	G	7: 39,186,504 (GRCm39)	S845A	possibly damaging	Het
Zscan4d	A	T	7: 10,899,274 (GRCm39)	M1K	probably null	Het

Other mutations in Or4c117

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Or4c117	APN	2	88,956,072 (GRCm39)	start codon destroyed	probably null	1.00
IGL01876:Or4c117	APN	2	88,956,081 (GRCm39)	splice site	probably null
IGL02090:Or4c117	APN	2	88,956,021 (GRCm39)	missense	probably benign	0.20
IGL03230:Or4c117	APN	2	88,955,892 (GRCm39)	missense	probably damaging	1.00
R3907:Or4c117	UTSW	2	88,955,927 (GRCm39)	nonsense	probably null
R4272:Or4c117	UTSW	2	88,955,706 (GRCm39)	missense	probably damaging	1.00
R4981:Or4c117	UTSW	2	88,955,845 (GRCm39)	missense	probably benign	0.02
R5466:Or4c117	UTSW	2	88,955,477 (GRCm39)	missense	probably benign	0.25
R5768:Or4c117	UTSW	2	88,955,793 (GRCm39)	missense	probably benign	0.01
R7296:Or4c117	UTSW	2	88,955,180 (GRCm39)	missense	probably benign	0.03
R7757:Or4c117	UTSW	2	88,955,333 (GRCm39)	missense	possibly damaging	0.80
R8414:Or4c117	UTSW	2	88,956,058 (GRCm39)	missense	probably benign	0.00
R8911:Or4c117	UTSW	2	88,955,608 (GRCm39)	missense	probably benign	0.00
R9003:Or4c117	UTSW	2	88,956,024 (GRCm39)	missense	possibly damaging	0.80
R9105:Or4c117	UTSW	2	88,955,995 (GRCm39)	missense	probably benign	0.01
R9407:Or4c117	UTSW	2	88,955,629 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CAAGCTGCAGTAATGGGAAC -3'
(R):5'- TAGCCCTGCACTGTTGAGTTC -3'

Sequencing Primer
(F):5'- GGGAACAAGTCACATATGAAATGATC -3'
(R):5'- GCACTGTTGAGTTCCCCCATG -3'

Posted On

2016-04-27