Mutagenetix > Incidental Mutation

Incidental Mutation 'R2192:Or4c125'

238173

Institutional Source

Beutler Lab

Gene Symbol

Or4c125

Ensembl Gene

ENSMUSG00000075091

Gene Name

olfactory receptor family 4 subfamily C member 125

Synonyms

MOR238-1, Olfr1233, GA_x6K02T2Q125-50784973-50784056

MMRRC Submission

040194-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R2192 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89169650-89172735 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 89170009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 212 (Y212*)

Ref Sequence

ENSEMBL: ENSMUSP00000149446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099784] [ENSMUST00000215469] [ENSMUST00000216561]

AlphaFold

Q8VGN0

Predicted Effect

probably null
Transcript: ENSMUST00000099784
AA Change: Y212*

SMART Domains

Protein: ENSMUSP00000097372
Gene: ENSMUSG00000075091
AA Change: Y212*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	25	299	1.1e-46	PFAM
Pfam:7tm_1	35	281	2.8e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215018

Predicted Effect

probably null
Transcript: ENSMUST00000215469
AA Change: Y212*

Predicted Effect

probably null
Transcript: ENSMUST00000216561
AA Change: Y212*

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	T	2: 131,403,289 (GRCm39)	M267K	probably damaging	Het
Aen	T	C	7: 78,555,793 (GRCm39)		probably null	Het
Ano2	A	G	6: 125,992,502 (GRCm39)	D825G	probably damaging	Het
Bdh2	T	C	3: 135,001,025 (GRCm39)	S142P	probably damaging	Het
Celsr1	A	G	15: 85,800,924 (GRCm39)	L2507P	possibly damaging	Het
Ces3a	T	C	8: 105,782,212 (GRCm39)	F308S	probably benign	Het
Cfap47	C	T	X: 78,454,218 (GRCm39)	R1646Q	probably damaging	Het
Chd4	T	A	6: 125,082,320 (GRCm39)	M603K	probably damaging	Het
Cit	T	C	5: 116,106,068 (GRCm39)	V984A	probably benign	Het
Clstn3	A	T	6: 124,436,166 (GRCm39)	D194E	probably damaging	Het
Ctdp1	T	C	18: 80,492,696 (GRCm39)	R600G	probably benign	Het
Ctnnd1	C	T	2: 84,439,907 (GRCm39)	G801D	probably damaging	Het
Dgkg	A	G	16: 22,407,049 (GRCm39)	F179L	probably damaging	Het
Dlg3	G	A	X: 99,817,827 (GRCm39)	D379N	probably damaging	Het
Drd2	G	T	9: 49,314,571 (GRCm39)	R267S	probably benign	Het
Dsg1b	T	C	18: 20,542,675 (GRCm39)	*1061Q	probably null	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Edc3	T	C	9: 57,620,826 (GRCm39)	V49A	probably damaging	Het
Ern1	G	A	11: 106,300,750 (GRCm39)	T548I	probably benign	Het
Fam186a	T	C	15: 99,838,192 (GRCm39)	D2684G	possibly damaging	Het
Fam20a	A	G	11: 109,565,449 (GRCm39)	M454T	probably benign	Het
Fbp2	A	G	13: 63,006,056 (GRCm39)	M19T	possibly damaging	Het
Frmd4b	A	T	6: 97,464,577 (GRCm39)	C47S	probably damaging	Het
Gtf2h1	T	A	7: 46,464,747 (GRCm39)	I388N	possibly damaging	Het
Hectd4	T	C	5: 121,453,206 (GRCm39)	V571A	possibly damaging	Het
Helz2	T	A	2: 180,870,841 (GRCm39)	K2832*	probably null	Het
Herc1	T	A	9: 66,372,688 (GRCm39)	D3081E	probably damaging	Het
Hmcn1	A	T	1: 150,591,566 (GRCm39)	S1878T	probably damaging	Het
Iars1	A	G	13: 49,841,605 (GRCm39)		probably null	Het
Il17rd	A	T	14: 26,816,835 (GRCm39)	K180M	probably damaging	Het
Ints6l	T	A	X: 55,550,110 (GRCm39)	H678Q	probably benign	Het
Khdrbs1	A	G	4: 129,613,830 (GRCm39)		probably null	Het
Lce3a	A	C	3: 92,832,837 (GRCm39)	S88A	unknown	Het
Lgals12	C	T	19: 7,578,606 (GRCm39)		probably null	Het
Lnpk	T	C	2: 74,399,373 (GRCm39)	T57A	probably benign	Het
Lrp2bp	C	T	8: 46,466,206 (GRCm39)	T105I	probably benign	Het
Lrrc4c	C	G	2: 97,459,657 (GRCm39)	N94K	possibly damaging	Het
Mag	A	T	7: 30,600,066 (GRCm39)	Y571*	probably null	Het
Mbd1	T	A	18: 74,410,449 (GRCm39)	D583E	probably damaging	Het
Mill1	T	A	7: 17,998,544 (GRCm39)	Y251*	probably null	Het
Mllt10	T	C	2: 18,211,871 (GRCm39)	I928T	probably benign	Het
Ms4a18	T	C	19: 10,991,029 (GRCm39)	T22A	probably benign	Het
Mtmr14	T	C	6: 113,257,700 (GRCm39)	F250L	probably damaging	Het
Mtmr3	A	T	11: 4,449,032 (GRCm39)	W244R	probably damaging	Het
Myorg	A	G	4: 41,497,704 (GRCm39)	I642T	probably damaging	Het
Nat10	C	A	2: 103,556,522 (GRCm39)	E885D	probably benign	Het
Nbeal1	T	A	1: 60,321,054 (GRCm39)	L2055H	probably damaging	Het
Necab3	T	A	2: 154,388,999 (GRCm39)	I192F	possibly damaging	Het
Nedd4	T	A	9: 72,650,000 (GRCm39)	N783K	probably damaging	Het
Nf2	A	T	11: 4,749,899 (GRCm39)	W61R	probably damaging	Het
Nox4	T	A	7: 87,023,588 (GRCm39)	F491L	probably benign	Het
Omt2b	G	A	9: 78,235,457 (GRCm39)		probably benign	Het
Or4c127	T	A	2: 89,832,774 (GRCm39)	I8N	probably damaging	Het
Or8i2	A	G	2: 86,852,855 (GRCm39)	V11A	probably benign	Het
Osbpl5	A	T	7: 143,247,596 (GRCm39)	Y723*	probably null	Het
Otop2	T	C	11: 115,217,757 (GRCm39)	S198P	possibly damaging	Het
Pgam5	T	G	5: 110,413,785 (GRCm39)	H126P	probably damaging	Het
Phip	A	T	9: 82,753,868 (GRCm39)	N1625K	probably damaging	Het
Phospho2	T	A	2: 69,626,451 (GRCm39)	Y202*	probably null	Het
Pkd1l3	T	A	8: 110,347,156 (GRCm39)	H176Q	unknown	Het
Plxdc2	A	G	2: 16,570,147 (GRCm39)	R109G	probably damaging	Het
Prorsd1	T	C	11: 29,463,592 (GRCm39)	K57E	probably benign	Het
Rnf150	A	T	8: 83,591,020 (GRCm39)	R128W	probably damaging	Het
Samm50	G	A	15: 84,084,625 (GRCm39)		probably null	Het
Skint6	A	T	4: 112,722,909 (GRCm39)	Y889*	probably null	Het
Slc35b1	T	C	11: 95,276,640 (GRCm39)	Y40H	probably damaging	Het
Speg	A	G	1: 75,394,371 (GRCm39)	H1722R	probably damaging	Het
Suz12	T	C	11: 79,913,024 (GRCm39)	L356P	probably damaging	Het
Tln2	T	G	9: 67,262,503 (GRCm39)	I585L	probably damaging	Het
Trim2	G	A	3: 84,098,225 (GRCm39)	Q359*	probably null	Het
Ttc28	T	C	5: 111,371,362 (GRCm39)	Y635H	probably damaging	Het
Ttn	C	T	2: 76,543,549 (GRCm39)	E33146K	probably damaging	Het
Vcp	G	T	4: 42,982,547 (GRCm39)	T715K	probably benign	Het
Vmn1r230	T	A	17: 21,067,355 (GRCm39)	N181K	probably benign	Het
Vmn2r17	T	A	5: 109,582,144 (GRCm39)	M511K	possibly damaging	Het
Wdfy3	C	T	5: 102,055,408 (GRCm39)	R1554Q	possibly damaging	Het
Zfp112	A	T	7: 23,824,863 (GRCm39)	Q277L	probably damaging	Het
Zfp850	T	C	7: 27,684,620 (GRCm39)	E42G	probably damaging	Het
Zfp976	G	A	7: 42,262,695 (GRCm39)	P381S	probably damaging	Het
Zzef1	A	T	11: 72,800,982 (GRCm39)		probably null	Het

Other mutations in Or4c125

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01879:Or4c125	APN	2	89,170,366 (GRCm39)	missense	probably benign	0.01
IGL02130:Or4c125	APN	2	89,169,927 (GRCm39)	missense	probably damaging	1.00
IGL02264:Or4c125	APN	2	89,170,028 (GRCm39)	missense	probably benign	0.33
IGL03155:Or4c125	APN	2	89,170,310 (GRCm39)	missense	probably damaging	1.00
R0412:Or4c125	UTSW	2	89,170,422 (GRCm39)	missense	probably benign	0.03
R0558:Or4c125	UTSW	2	89,170,580 (GRCm39)	missense	probably benign	0.00
R0614:Or4c125	UTSW	2	89,170,329 (GRCm39)	missense	probably damaging	0.99
R1138:Or4c125	UTSW	2	89,170,434 (GRCm39)	missense	probably benign	0.03
R1969:Or4c125	UTSW	2	89,170,640 (GRCm39)	missense	probably damaging	1.00
R4417:Or4c125	UTSW	2	89,170,331 (GRCm39)	missense	probably benign	0.11
R5329:Or4c125	UTSW	2	89,169,803 (GRCm39)	missense	probably damaging	1.00
R5394:Or4c125	UTSW	2	89,169,806 (GRCm39)	missense	probably damaging	1.00
R5645:Or4c125	UTSW	2	89,170,049 (GRCm39)	missense	possibly damaging	0.94
R5949:Or4c125	UTSW	2	89,170,229 (GRCm39)	missense	probably damaging	1.00
R7524:Or4c125	UTSW	2	89,170,221 (GRCm39)	missense	probably benign	0.19
R9643:Or4c125	UTSW	2	89,170,517 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCTCTGCATTCCTTACAGTG -3'
(R):5'- GGACAGATACTCGTTACTCTCTGG -3'

Sequencing Primer
(F):5'- GCATTCCTTACAGTGTAGATAATTGG -3'
(R):5'- AGATACTCGTTACTCTCTGGATTCC -3'

Posted On

2014-10-02