Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02479:Clrn2'

295107

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clrn2

Ensembl Gene

ENSMUSG00000049530

Gene Name

clarin 2

Synonyms

EG624224, mpc169H

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

45611093-45621491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45621254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 216 (I216T)

Ref Sequence

ENSEMBL: ENSMUSP00000058204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053250]

AlphaFold

B2RVW2

Predicted Effect

probably benign
Transcript: ENSMUST00000053250
AA Change: I216T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000058204
Gene: ENSMUSG00000049530
AA Change: I216T

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
transmembrane domain	102	124	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
low complexity region	176	187	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,639,461 (GRCm39)	Y528C	probably damaging	Het
Adam24	T	A	8: 41,132,571 (GRCm39)	I13N	probably benign	Het
Arsj	T	C	3: 126,232,588 (GRCm39)	S445P	possibly damaging	Het
Btf3l4	G	A	4: 108,683,373 (GRCm39)	T31I	possibly damaging	Het
Cask	A	T	X: 13,423,297 (GRCm39)	D502E	probably damaging	Het
Cenpl	T	A	1: 160,910,637 (GRCm39)	S195T	probably benign	Het
Clhc1	T	A	11: 29,528,107 (GRCm39)	I545N	probably damaging	Het
Csf2rb	C	T	15: 78,225,924 (GRCm39)	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,727,477 (GRCm39)	D284G	probably benign	Het
Dgka	T	C	10: 128,566,115 (GRCm39)	E345G	probably benign	Het
Dync1i2	G	A	2: 71,066,323 (GRCm39)	V128I	probably damaging	Het
Eno3	T	A	11: 70,551,714 (GRCm39)		probably benign	Het
Epc2	T	A	2: 49,422,147 (GRCm39)	I347K	probably benign	Het
F8	A	T	X: 74,331,846 (GRCm39)	N681K	probably damaging	Het
Fancm	T	A	12: 65,153,259 (GRCm39)	D1238E	probably damaging	Het
Fcna	T	A	2: 25,515,272 (GRCm39)	Q237L	probably benign	Het
Fpr2	A	T	17: 18,113,074 (GRCm39)	R23S	probably benign	Het
Frmd3	A	G	4: 74,105,752 (GRCm39)	D466G	probably benign	Het
Gen1	C	A	12: 11,291,936 (GRCm39)	V618L	probably benign	Het
Gja4	T	C	4: 127,206,217 (GRCm39)	E182G	probably benign	Het
Gsdmc	T	A	15: 63,649,824 (GRCm39)	I356F	possibly damaging	Het
Kctd19	T	C	8: 106,111,400 (GRCm39)	D102G	probably damaging	Het
Lrit2	T	C	14: 36,794,235 (GRCm39)	L433P	probably damaging	Het
Lrp2	G	A	2: 69,295,145 (GRCm39)		probably benign	Het
Luc7l3	G	A	11: 94,187,735 (GRCm39)		probably benign	Het
Map3k5	T	A	10: 19,932,230 (GRCm39)	L458Q	probably damaging	Het
Mast4	A	G	13: 102,878,545 (GRCm39)	S1038P	probably damaging	Het
Med12	A	T	X: 100,340,598 (GRCm39)		probably benign	Het
Mtor	T	A	4: 148,555,041 (GRCm39)	L888M	probably damaging	Het
Nova1	A	T	12: 46,863,701 (GRCm39)	I83N	unknown	Het
Obscn	A	G	11: 58,947,053 (GRCm39)		probably benign	Het
Or11q2	T	C	X: 48,772,742 (GRCm39)	V121A	probably benign	Het
Or4d10c	T	A	19: 12,065,269 (GRCm39)	M296L	probably benign	Het
Or4f15	A	C	2: 111,813,730 (GRCm39)	S230A	probably benign	Het
Or6k2	C	A	1: 173,986,520 (GRCm39)	Y60*	probably null	Het
Pde2a	A	G	7: 101,150,290 (GRCm39)	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,288,215 (GRCm39)	K1062*	probably null	Het
Phc1	A	T	6: 122,300,676 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,863,730 (GRCm39)	S764T	probably benign	Het
Pmp2	T	G	3: 10,247,262 (GRCm39)	R89S	probably benign	Het
Prdm2	A	G	4: 142,861,499 (GRCm39)	L597P	probably damaging	Het
Rfx6	T	A	10: 51,554,424 (GRCm39)	D88E	probably benign	Het
Rgs9	T	C	11: 109,116,478 (GRCm39)	S442G	possibly damaging	Het
Ror2	C	T	13: 53,285,968 (GRCm39)	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,868,852 (GRCm39)	A986E	possibly damaging	Het
Slc5a5	T	A	8: 71,341,555 (GRCm39)	M325L	possibly damaging	Het
Slx9	T	C	10: 77,350,161 (GRCm39)	S76G	probably damaging	Het
Sppl2c	G	A	11: 104,077,763 (GRCm39)	V188I	probably benign	Het
Srrm3	G	T	5: 135,864,103 (GRCm39)	C67F	probably damaging	Het
Stk31	A	G	6: 49,398,622 (GRCm39)	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476 (GRCm39)	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Trav8d-1	T	C	14: 53,016,257 (GRCm39)	S48P	probably benign	Het
Vrk1	A	T	12: 106,017,261 (GRCm39)	Q95L	probably benign	Het
Wdr25	C	A	12: 108,864,527 (GRCm39)	T224K	probably benign	Het
Wdr37	A	T	13: 8,892,820 (GRCm39)	H224Q	probably damaging	Het
Zhx1	C	T	15: 57,917,767 (GRCm39)	E160K	probably damaging	Het

Other mutations in Clrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Clrn2	APN	5	45,621,311 (GRCm39)	utr 3 prime	probably benign
IGL01538:Clrn2	APN	5	45,617,408 (GRCm39)	missense	probably damaging	1.00
IGL01585:Clrn2	APN	5	45,617,500 (GRCm39)	missense	probably benign	0.00
IGL01783:Clrn2	APN	5	45,617,503 (GRCm39)	missense	probably benign
IGL02709:Clrn2	APN	5	45,617,495 (GRCm39)	missense	probably damaging	1.00
IGL03220:Clrn2	APN	5	45,621,070 (GRCm39)	missense	probably damaging	1.00
R1443:Clrn2	UTSW	5	45,617,453 (GRCm39)	missense	probably damaging	1.00
R1942:Clrn2	UTSW	5	45,611,337 (GRCm39)	missense	probably benign	0.26
R2258:Clrn2	UTSW	5	45,611,304 (GRCm39)	missense	probably benign	0.03
R4806:Clrn2	UTSW	5	45,611,346 (GRCm39)	missense	probably damaging	1.00
R5943:Clrn2	UTSW	5	45,621,061 (GRCm39)	missense	probably benign	0.01
R5987:Clrn2	UTSW	5	45,611,369 (GRCm39)	missense	probably benign	0.09
R6029:Clrn2	UTSW	5	45,617,528 (GRCm39)	missense	probably damaging	1.00
R6371:Clrn2	UTSW	5	45,617,540 (GRCm39)	missense	possibly damaging	0.62
R6474:Clrn2	UTSW	5	45,621,074 (GRCm39)	missense	probably benign	0.04
R6881:Clrn2	UTSW	5	45,611,164 (GRCm39)	nonsense	probably null
R6939:Clrn2	UTSW	5	45,611,096 (GRCm39)	unclassified	probably benign
R7156:Clrn2	UTSW	5	45,611,258 (GRCm39)	missense	probably damaging	0.99
R7186:Clrn2	UTSW	5	45,611,115 (GRCm39)	unclassified	probably benign
R7392:Clrn2	UTSW	5	45,621,251 (GRCm39)	missense	possibly damaging	0.52
R8495:Clrn2	UTSW	5	45,617,485 (GRCm39)	missense	possibly damaging	0.85
R9152:Clrn2	UTSW	5	45,621,254 (GRCm39)	missense	probably benign	0.03
R9214:Clrn2	UTSW	5	45,617,518 (GRCm39)	missense	probably benign	0.31
R9227:Clrn2	UTSW	5	45,621,283 (GRCm39)	missense	probably damaging	0.99
R9230:Clrn2	UTSW	5	45,621,283 (GRCm39)	missense	probably damaging	0.99
R9458:Clrn2	UTSW	5	45,617,513 (GRCm39)	missense	possibly damaging	0.74
R9685:Clrn2	UTSW	5	45,611,331 (GRCm39)	missense	possibly damaging	0.81
R9772:Clrn2	UTSW	5	45,611,369 (GRCm39)	nonsense	probably null

Posted On

2015-04-16