Mutagenetix > Incidental Mutation

Incidental Mutation 'R1669:Or4c126'

187425

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

039705-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R1669 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89823739-89824659 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 89824144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107134 (fasta)

Gene Model

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

AlphaFold

Q8VFB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000077785
AA Change: C136S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076959
Gene: ENSMUSG00000061295
AA Change: C136S

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 null
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: C136S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216953
AA Change: C136S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (85/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	C	9: 122,086,249 (GRCm39)	L258R	possibly damaging	Het
Ap3d1	A	G	10: 80,546,670 (GRCm39)		probably benign	Het
Aplp2	G	T	9: 31,079,029 (GRCm39)		probably benign	Het
Arhgap11a	T	C	2: 113,672,257 (GRCm39)	D237G	possibly damaging	Het
Arhgef4	A	T	1: 34,771,239 (GRCm39)	H1182L	possibly damaging	Het
Ash1l	G	A	3: 88,974,549 (GRCm39)		probably null	Het
Bicdl1	C	A	5: 115,794,075 (GRCm39)	V224L	possibly damaging	Het
Cacna1h	C	A	17: 25,602,445 (GRCm39)	V1422L	probably damaging	Het
Card10	T	C	15: 78,678,153 (GRCm39)	E365G	probably benign	Het
Cd180	C	T	13: 102,841,998 (GRCm39)	T348I	probably damaging	Het
Cds2	T	A	2: 132,137,439 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,370,339 (GRCm39)	D601E	probably benign	Het
Coprs	C	T	8: 13,935,704 (GRCm39)	W12*	probably null	Het
Cpsf3	T	A	12: 21,355,332 (GRCm39)	M424K	probably damaging	Het
Cxcl13	T	A	5: 96,106,600 (GRCm39)	N57K	probably damaging	Het
Dact1	C	T	12: 71,365,547 (GRCm39)	T776M	probably damaging	Het
Depdc1a	A	G	3: 159,228,561 (GRCm39)	K438E	probably benign	Het
Dop1b	T	A	16: 93,566,548 (GRCm39)	S992T	probably damaging	Het
Dusp11	A	T	6: 85,927,008 (GRCm39)	H202Q	probably benign	Het
Ezr	T	C	17: 7,006,712 (GRCm39)	E584G	probably damaging	Het
F830104G03Rik	A	G	3: 56,797,998 (GRCm39)	V6A	unknown	Het
Fam227a	G	A	15: 79,504,878 (GRCm39)		probably null	Het
Gapvd1	T	G	2: 34,620,694 (GRCm39)		probably null	Het
Gm10267	T	C	18: 44,290,367 (GRCm39)	R47G	probably damaging	Het
Hectd3	T	A	4: 116,856,840 (GRCm39)	D462E	probably damaging	Het
Hfe	A	T	13: 23,890,110 (GRCm39)	L133*	probably null	Het
Hpcal4	T	C	4: 123,082,869 (GRCm39)	F72L	probably damaging	Het
Itgb4	G	A	11: 115,882,156 (GRCm39)	R825H	probably benign	Het
Kcnh8	T	A	17: 53,200,996 (GRCm39)	Y477N	probably damaging	Het
Kctd1	T	C	18: 15,195,517 (GRCm39)	N369D	possibly damaging	Het
Kdm1b	C	T	13: 47,222,024 (GRCm39)	R488C	probably damaging	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra8	A	T	6: 130,092,592 (GRCm39)	C236*	probably null	Het
Lca5l	T	C	16: 95,961,008 (GRCm39)	R485G	possibly damaging	Het
Lrrc2	A	G	9: 110,810,718 (GRCm39)	T363A	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,818,672 (GRCm39)	G1314D	possibly damaging	Het
Mmp10	A	T	9: 7,505,526 (GRCm39)		probably null	Het
Mmp13	A	G	9: 7,277,926 (GRCm39)	D273G	probably benign	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Msh4	C	T	3: 153,582,357 (GRCm39)	R417Q	possibly damaging	Het
Nedd9	A	T	13: 41,465,270 (GRCm39)	V790E	probably damaging	Het
Nlgn1	C	A	3: 25,490,298 (GRCm39)	L476F	probably damaging	Het
Nox4	C	A	7: 86,945,097 (GRCm39)	Q118K	probably benign	Het
Nxf1	A	G	19: 8,749,495 (GRCm39)	T131A	possibly damaging	Het
Oog3	C	A	4: 143,885,008 (GRCm39)	R309S	probably benign	Het
Oosp3	C	T	19: 11,678,378 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,479,920 (GRCm39)	T298S	probably benign	Het
Or2a7	T	A	6: 43,151,755 (GRCm39)	S278R	probably damaging	Het
Or2w6	A	T	13: 21,843,456 (GRCm39)	S12R	possibly damaging	Het
Or51a42	A	T	7: 103,708,516 (GRCm39)	S98T	probably benign	Het
Or5b97	A	T	19: 12,878,652 (GRCm39)	I164K	possibly damaging	Het
P2ry6	A	G	7: 100,587,630 (GRCm39)	V243A	probably damaging	Het
Pgc	C	A	17: 48,044,715 (GRCm39)	P321T	probably damaging	Het
Pramel22	T	G	4: 143,380,916 (GRCm39)	E369A	possibly damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Prkdc	T	A	16: 15,551,922 (GRCm39)	S2043T	probably damaging	Het
Rasal3	T	C	17: 32,622,072 (GRCm39)	N96D	possibly damaging	Het
Rnf4	T	C	5: 34,508,624 (GRCm39)	F162S	probably damaging	Het
Ros1	A	T	10: 52,037,907 (GRCm39)	N421K	probably damaging	Het
Rtn4rl1	A	G	11: 75,156,753 (GRCm39)	D395G	probably benign	Het
Scn8a	T	G	15: 100,909,001 (GRCm39)	V823G	probably damaging	Het
Sema3d	T	A	5: 12,558,051 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,037,307 (GRCm39)	I501T	probably damaging	Het
Slc12a7	C	T	13: 73,943,232 (GRCm39)	T382I	probably benign	Het
Slc16a12	T	A	19: 34,657,781 (GRCm39)	I41L	probably benign	Het
Slc1a1	C	A	19: 28,889,194 (GRCm39)	T489K	probably benign	Het
Slc24a3	C	T	2: 145,455,512 (GRCm39)	P467L	probably damaging	Het
Slco1a8	T	A	6: 141,933,415 (GRCm39)	I457F	probably benign	Het
Snai2	A	T	16: 14,524,908 (GRCm39)	Y138F	possibly damaging	Het
Sorcs1	A	C	19: 50,463,860 (GRCm39)	Y197D	probably damaging	Het
Sppl2a	T	A	2: 126,759,714 (GRCm39)		probably benign	Het
Srgap3	G	A	6: 112,699,865 (GRCm39)	P1038S	probably benign	Het
Ttn	T	C	2: 76,554,807 (GRCm39)	E30699G	probably damaging	Het
Vmn2r124	T	A	17: 18,283,206 (GRCm39)	M300K	possibly damaging	Het
Vwf	T	C	6: 125,624,869 (GRCm39)	S1873P	possibly damaging	Het
Wrap73	A	G	4: 154,240,588 (GRCm39)	D360G	probably damaging	Het
Zfp366	T	C	13: 99,366,069 (GRCm39)	M410T	probably damaging	Het
Zfp608	C	T	18: 55,120,811 (GRCm39)	V259I	probably benign	Het
Zfp69	C	T	4: 120,804,695 (GRCm39)		probably benign	Het
Zfp995	T	C	17: 22,098,945 (GRCm39)	T430A	probably benign	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
R0140:Or4c126	UTSW	2	89,824,463 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCACCATATCCTTCAATGGCTGC -3'
(R):5'- TGCACTGTGATTTCTCAGGGAGC -3'

Sequencing Primer
(F):5'- TCAATGGCTGCATGACTCAG -3'
(R):5'- ACACAGTGACCCGCTGTTG -3'

Posted On

2014-05-09