Mutagenetix > Incidental Mutation

Incidental Mutation 'R4626:Or4c101'

348759

Institutional Source

Beutler Lab

Gene Symbol

Or4c101

Ensembl Gene

ENSMUSG00000068809

Gene Name

olfactory receptor family 4 subfamily C member 101

Synonyms

MOR238-2, Olfr1188, GA_x6K02T2Q125-50046879-50047784

MMRRC Submission

041891-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R4626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88389795-88390762 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88390176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 121 (V121A)

Ref Sequence

ENSEMBL: ENSMUSP00000088202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090701] [ENSMUST00000217131]

AlphaFold

A2AV10

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090701
AA Change: V121A

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088202
Gene: ENSMUSG00000068809
AA Change: V121A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	36	309	5.9e-49	PFAM
Pfam:7tm_1	46	292	1.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217131
AA Change: V110A

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,313,784 (GRCm39)	*527G	probably null	Het
Abca17	A	T	17: 24,540,058 (GRCm39)	I390N	probably damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd49	A	C	9: 14,693,936 (GRCm39)	L77R	probably damaging	Het
Ap3b1	T	A	13: 94,540,586 (GRCm39)	N169K	possibly damaging	Het
Arhgap39	A	C	15: 76,621,837 (GRCm39)	F255V	possibly damaging	Het
Atp1a3	T	A	7: 24,698,193 (GRCm39)	N171I	possibly damaging	Het
Atp9a	T	C	2: 168,481,863 (GRCm39)	D953G	probably damaging	Het
Atxn1	T	C	13: 45,720,575 (GRCm39)	Y440C	probably damaging	Het
Bccip	T	C	7: 133,322,457 (GRCm39)	Y268H	possibly damaging	Het
Brms1l	C	A	12: 55,909,958 (GRCm39)	P243T	probably benign	Het
Btbd10	T	C	7: 112,927,605 (GRCm39)	E250G	probably damaging	Het
Cacna1e	T	C	1: 154,358,294 (GRCm39)		probably null	Het
Cfhr2	A	T	1: 139,741,314 (GRCm39)	N220K	probably damaging	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
D5Ertd579e	T	C	5: 36,771,903 (GRCm39)	I831V	possibly damaging	Het
F2	T	A	2: 91,461,015 (GRCm39)	N239I	probably benign	Het
Fbln5	T	A	12: 101,727,086 (GRCm39)	D301V	probably damaging	Het
Fbn2	A	T	18: 58,146,819 (GRCm39)	C2692*	probably null	Het
Fhdc1	C	T	3: 84,381,557 (GRCm39)	D34N	probably damaging	Het
Galnt13	T	A	2: 54,747,878 (GRCm39)	M253K	probably damaging	Het
Gpc6	C	A	14: 118,202,255 (GRCm39)	Y488*	probably null	Het
Grm5	G	T	7: 87,779,361 (GRCm39)	G934C	probably damaging	Het
Gys1	T	C	7: 45,088,958 (GRCm39)	L119S	probably damaging	Het
H2-T15	CTGGGTG	CTG	17: 36,368,788 (GRCm39)		probably null	Het
Htra4	T	C	8: 25,527,130 (GRCm39)	N222D	probably benign	Het
Iba57	A	G	11: 59,049,287 (GRCm39)	V294A	probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama5	G	A	2: 179,826,253 (GRCm39)	T2330M	probably damaging	Het
Lrguk	G	A	6: 34,106,158 (GRCm39)	E728K	probably benign	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mettl18	T	A	1: 163,824,045 (GRCm39)	V122E	probably damaging	Het
Mindy2	G	A	9: 70,534,063 (GRCm39)	S378L	probably damaging	Het
Mis18bp1	G	T	12: 65,187,540 (GRCm39)	F854L	probably damaging	Het
Mtdh	C	T	15: 34,114,980 (GRCm39)	R106*	probably null	Het
Nup214	T	A	2: 31,923,416 (GRCm39)	V1315E	possibly damaging	Het
Nup58	A	G	14: 60,476,004 (GRCm39)	V271A	probably benign	Het
Or1j1	A	G	2: 36,702,271 (GRCm39)	Y278H	probably damaging	Het
Or6f2	T	C	7: 139,756,359 (GRCm39)	S109P	probably damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pcdha11	A	T	18: 37,140,051 (GRCm39)	N560I	probably damaging	Het
Pcdhb9	T	A	18: 37,535,302 (GRCm39)	F432Y	probably benign	Het
Peg10	GGATCC	GGATCCCCATCAAGATCC	6: 4,756,460 (GRCm39)		probably benign	Het
Poll	C	A	19: 45,543,563 (GRCm39)	M385I	probably benign	Het
Pomt1	A	G	2: 32,144,424 (GRCm39)	K737E	possibly damaging	Het
Prr16	C	T	18: 51,435,911 (GRCm39)	T130I	probably damaging	Het
Ptpn18	A	G	1: 34,510,873 (GRCm39)		probably null	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Scn10a	A	G	9: 119,460,571 (GRCm39)	I1101T	possibly damaging	Het
Slc22a22	T	C	15: 57,126,734 (GRCm39)	T93A	probably damaging	Het
Snx10	A	G	6: 51,565,270 (GRCm39)	D129G	probably damaging	Het
Stub1	A	G	17: 26,050,845 (GRCm39)		probably null	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Trmu	T	C	15: 85,779,186 (GRCm39)	Y278H	possibly damaging	Het
Ugt2b36	A	C	5: 87,239,947 (GRCm39)	F146C	probably damaging	Het
Vav2	T	C	2: 27,160,172 (GRCm39)	I692V	possibly damaging	Het
Wdfy3	A	G	5: 102,091,800 (GRCm39)	L513P	probably damaging	Het
Zfhx4	T	A	3: 5,467,699 (GRCm39)	V2619D	probably damaging	Het
Zfyve26	T	A	12: 79,315,844 (GRCm39)	N1211Y	possibly damaging	Het
Zp3r	A	G	1: 130,542,912 (GRCm39)	F142L	probably damaging	Het

Other mutations in Or4c101

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01811:Or4c101	APN	2	88,390,409 (GRCm39)	missense	probably benign	0.02
R1525:Or4c101	UTSW	2	88,389,985 (GRCm39)	missense	probably damaging	1.00
R1530:Or4c101	UTSW	2	88,389,827 (GRCm39)	missense	probably benign	0.23
R1703:Or4c101	UTSW	2	88,390,599 (GRCm39)	missense	possibly damaging	0.56
R1750:Or4c101	UTSW	2	88,390,402 (GRCm39)	missense	possibly damaging	0.94
R4645:Or4c101	UTSW	2	88,390,722 (GRCm39)	missense	probably damaging	0.98
R4934:Or4c101	UTSW	2	88,389,930 (GRCm39)	missense	probably benign	0.00
R5643:Or4c101	UTSW	2	88,389,849 (GRCm39)	start codon destroyed	probably null	0.90
R5644:Or4c101	UTSW	2	88,389,849 (GRCm39)	start codon destroyed	probably null	0.90
R6539:Or4c101	UTSW	2	88,389,864 (GRCm39)	missense	probably damaging	1.00
R7079:Or4c101	UTSW	2	88,389,853 (GRCm39)	missense	probably damaging	1.00
R9035:Or4c101	UTSW	2	88,389,863 (GRCm39)	missense	probably damaging	0.99
R9072:Or4c101	UTSW	2	88,390,658 (GRCm39)	missense	probably benign
R9073:Or4c101	UTSW	2	88,390,658 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACCTGCTCATAGTGGGGAC -3'
(R):5'- TCCAAGATATTGGGGCCACAG -3'

Sequencing Primer
(F):5'- GACCATAGTCTGTAGCCAGTC -3'
(R):5'- TATTGGGGCCACAGGAGGG -3'

Posted On

2015-10-08