Mutagenetix > Incidental Mutation

Incidental Mutation 'R0140:Or4c126'

22236

Institutional Source

Beutler Lab

Gene Symbol

Or4c126

Ensembl Gene

ENSMUSG00000061295

Gene Name

olfactory receptor family 4 subfamily C member 126

Synonyms

MOR234-3, Olfr1261, GA_x6K02T2Q125-51425355-51426275

MMRRC Submission

038425-MU

Accession Numbers

Essential gene?

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

Stock #

R0140 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

89823739-89824659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89824463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 242 (V242D)

Ref Sequence

ENSEMBL: ENSMUSP00000150711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077785] [ENSMUST00000111509] [ENSMUST00000213909] [ENSMUST00000216953]

AlphaFold

Q8VFB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000077785
AA Change: V242D

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

SMART Domains

Protein: ENSMUSP00000076959
Gene: ENSMUSG00000061295
AA Change: V242D

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	30	297	1.5e-6	PFAM
Pfam:7tm_1	36	282	4.5e-26	PFAM
Pfam:7tm_4	134	275	4.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111509

SMART Domains

Protein: ENSMUSP00000107134
Gene: ENSMUSG00000061295

Domain	Start	End	E-Value	Type
Pfam:7tm_4	25	299	1.8e-41	PFAM
Pfam:7TM_GPCR_Srsx	30	297	1.5e-6	PFAM
Pfam:7tm_1	36	282	4.5e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213909
AA Change: V242D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216953
AA Change: V242D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (79/81)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
9330161L09Rik	T	C	12: 103,373,587 (GRCm39)		probably benign	Het
Abca2	T	G	2: 25,328,097 (GRCm39)		probably null	Het
Adgrf3	T	C	5: 30,401,379 (GRCm39)	K13R	probably benign	Het
Arhgap15	C	A	2: 44,212,779 (GRCm39)	F416L	probably damaging	Het
Arhgef26	C	G	3: 62,355,666 (GRCm39)	T746R	probably benign	Het
Aspm	C	T	1: 139,408,379 (GRCm39)	T2422I	probably benign	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
AY358078	T	A	14: 52,063,399 (GRCm39)	D348E	probably benign	Het
Blnk	A	T	19: 40,928,668 (GRCm39)	S285T	probably damaging	Het
Calr3	C	T	8: 73,188,732 (GRCm39)		probably benign	Het
Camsap2	A	T	1: 136,208,120 (GRCm39)	V1124D	probably benign	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Ccdc69	C	A	11: 54,941,325 (GRCm39)	C196F	possibly damaging	Het
Cdhr3	T	G	12: 33,130,412 (GRCm39)	N141T	probably benign	Het
Cdk4	T	C	10: 126,900,214 (GRCm39)	V37A	probably damaging	Het
Celsr2	C	T	3: 108,305,249 (GRCm39)	R2110K	probably benign	Het
Clcn7	A	G	17: 25,372,728 (GRCm39)	Y437C	probably damaging	Het
Col6a6	A	G	9: 105,579,474 (GRCm39)	F1917S	probably damaging	Het
Cps1	T	G	1: 67,219,275 (GRCm39)	S872A	probably benign	Het
Crebbp	G	T	16: 3,935,363 (GRCm39)	T842N	probably damaging	Het
Dennd2d	G	A	3: 106,399,799 (GRCm39)	V234I	probably benign	Het
Fam227b	T	C	2: 125,966,523 (GRCm39)	M130V	possibly damaging	Het
Fbxw24	G	T	9: 109,434,482 (GRCm39)	L373I	possibly damaging	Het
Fubp3	T	C	2: 31,498,196 (GRCm39)	Y359H	probably damaging	Het
Gm19684	T	C	17: 36,438,319 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,238,800 (GRCm39)	Q3013*	probably null	Het
Il12rb1	T	C	8: 71,272,415 (GRCm39)		probably benign	Het
Lepr	A	T	4: 101,625,264 (GRCm39)	D473V	probably damaging	Het
Myof	A	T	19: 37,940,004 (GRCm39)	Y820*	probably null	Het
Nfil3	G	A	13: 53,121,681 (GRCm39)	Q408*	probably null	Het
Nolc1	G	A	19: 46,069,817 (GRCm39)		probably benign	Het
Npbwr1	A	C	1: 5,986,840 (GRCm39)	Y225D	probably damaging	Het
Nrip3	T	C	7: 109,361,022 (GRCm39)		probably benign	Het
Ntrk1	A	C	3: 87,685,875 (GRCm39)	L749R	probably damaging	Het
Or10ag53	A	G	2: 87,082,969 (GRCm39)	I229M	probably damaging	Het
Or2b11	A	G	11: 59,461,804 (GRCm39)	L254P	probably damaging	Het
Or52a24	A	G	7: 103,381,349 (GRCm39)	D72G	probably damaging	Het
Or6c211	G	T	10: 129,505,557 (GRCm39)	T277N	probably damaging	Het
Paox	A	T	7: 139,713,971 (GRCm39)	T244S	probably damaging	Het
Pcdhb9	T	A	18: 37,536,014 (GRCm39)	D669E	possibly damaging	Het
Pggt1b	A	G	18: 46,391,150 (GRCm39)		probably null	Het
Phkg1	T	A	5: 129,893,449 (GRCm39)	I334F	probably benign	Het
Phtf1	A	T	3: 103,894,876 (GRCm39)	R208W	probably null	Het
Pnliprp2	A	T	19: 58,754,795 (GRCm39)	I280F	probably benign	Het
Pnma8a	A	G	7: 16,694,147 (GRCm39)	M1V	probably null	Het
Prcp	A	G	7: 92,577,819 (GRCm39)	T328A	probably damaging	Het
Pxdn	A	G	12: 30,032,753 (GRCm39)	E179G	probably benign	Het
Racgap1	A	T	15: 99,521,532 (GRCm39)	N541K	probably benign	Het
Rnf103	T	A	6: 71,486,315 (GRCm39)	F315L	possibly damaging	Het
Septin2	A	G	1: 93,429,361 (GRCm39)	R237G	probably damaging	Het
Setd6	T	A	8: 96,442,737 (GRCm39)	L58Q	probably damaging	Het
Sipa1l1	G	A	12: 82,442,974 (GRCm39)	V755I	probably damaging	Het
Slc16a12	G	T	19: 34,650,104 (GRCm39)		probably benign	Het
Slk	G	A	19: 47,610,774 (GRCm39)	D815N	probably damaging	Het
Stx1a	T	C	5: 135,074,439 (GRCm39)		probably benign	Het
Tbc1d15	T	A	10: 115,056,124 (GRCm39)	I283F	probably damaging	Het
Tenm4	T	C	7: 96,545,259 (GRCm39)	I2425T	possibly damaging	Het
Tle1	G	A	4: 72,038,422 (GRCm39)	H702Y	probably damaging	Het
Tmc6	A	G	11: 117,657,077 (GRCm39)		probably benign	Het
Tmem268	G	A	4: 63,496,096 (GRCm39)	R179H	possibly damaging	Het
Tmem9	A	G	1: 135,961,900 (GRCm39)	K165R	probably damaging	Het
Trpm6	A	G	19: 18,796,558 (GRCm39)		probably null	Het
Tufm	C	T	7: 126,089,003 (GRCm39)	P88S	probably damaging	Het
Ubqln1	A	G	13: 58,341,103 (GRCm39)	I216T	probably damaging	Het
Urad	T	G	5: 147,259,141 (GRCm39)	M1L	probably benign	Het
Utp6	A	G	11: 79,847,551 (GRCm39)		probably benign	Het
Vav2	C	T	2: 27,163,688 (GRCm39)		probably benign	Het
Vmn2r55	G	T	7: 12,402,104 (GRCm39)	Q395K	possibly damaging	Het
Wwox	T	G	8: 115,433,027 (GRCm39)	V231G	probably damaging	Het
Zfp646	T	A	7: 127,482,678 (GRCm39)	N1618K	probably benign	Het
Zzef1	G	A	11: 72,790,377 (GRCm39)	M2110I	possibly damaging	Het

Other mutations in Or4c126

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02582:Or4c126	APN	2	89,824,656 (GRCm39)	missense	probably benign	0.00
R0220:Or4c126	UTSW	2	89,824,206 (GRCm39)	missense	probably benign	0.08
R0243:Or4c126	UTSW	2	89,824,150 (GRCm39)	missense	probably benign	0.01
R1644:Or4c126	UTSW	2	89,824,297 (GRCm39)	missense	possibly damaging	0.60
R1669:Or4c126	UTSW	2	89,824,144 (GRCm39)	splice site	probably null
R1916:Or4c126	UTSW	2	89,824,148 (GRCm39)	missense	probably benign
R3620:Or4c126	UTSW	2	89,824,196 (GRCm39)	missense	probably damaging	1.00
R4190:Or4c126	UTSW	2	89,823,918 (GRCm39)	nonsense	probably null
R5260:Or4c126	UTSW	2	89,824,526 (GRCm39)	missense	probably damaging	1.00
R5591:Or4c126	UTSW	2	89,823,751 (GRCm39)	missense	possibly damaging	0.95
R5907:Or4c126	UTSW	2	89,824,301 (GRCm39)	missense	probably benign	0.01
R5910:Or4c126	UTSW	2	89,823,782 (GRCm39)	missense	probably benign	0.29
R6044:Or4c126	UTSW	2	89,823,761 (GRCm39)	missense	possibly damaging	0.89
R6556:Or4c126	UTSW	2	89,824,517 (GRCm39)	missense	probably benign	0.39
R7083:Or4c126	UTSW	2	89,824,201 (GRCm39)	missense	probably benign
R7439:Or4c126	UTSW	2	89,824,183 (GRCm39)	missense	probably benign	0.00
R8439:Or4c126	UTSW	2	89,824,348 (GRCm39)	missense	probably benign	0.31
R8745:Or4c126	UTSW	2	89,824,076 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCACTACATGACCATCATGAACCG -3'
(R):5'- AGCTTTCCTCATTCGACCCCAGAG -3'

Sequencing Primer
(F):5'- ATGAACCGACCTCTGTGTG -3'
(R):5'- GACCCCAGAGCTTCTTCATAAC -3'

Posted On

2013-04-16