Mutagenetix > Incidental Mutation

Incidental Mutation 'R6371:Clrn2'

513517

Institutional Source

Beutler Lab

Gene Symbol

Clrn2

Ensembl Gene

ENSMUSG00000049530

Gene Name

clarin 2

Synonyms

EG624224, mpc169H

MMRRC Submission

044521-MU

Accession Numbers

Essential gene?

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

Stock #

R6371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45611093-45621491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45617540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 137 (I137T)

Ref Sequence

ENSEMBL: ENSMUSP00000058204 (fasta)

Gene Model

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

AlphaFold

B2RVW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053250
AA Change: I137T

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058204
Gene: ENSMUSG00000049530
AA Change: I137T

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

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 94.1%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	C	T	12: 113,453,894 (GRCm39)	S237L	probably damaging	Het
Ank3	T	G	10: 69,644,709 (GRCm39)	L58V	probably damaging	Het
Arsb	A	T	13: 93,926,574 (GRCm39)	I115F	possibly damaging	Het
Atad2b	T	C	12: 5,023,970 (GRCm39)	Y32H	probably damaging	Het
Brd1	A	C	15: 88,598,201 (GRCm39)	M515R	probably benign	Het
Cbx7	A	G	15: 79,803,023 (GRCm39)	S30P	possibly damaging	Het
Cdk12	A	G	11: 98,136,114 (GRCm39)	T1123A	unknown	Het
Cep170b	A	G	12: 112,707,379 (GRCm39)	D375G	probably damaging	Het
Clcn3	T	C	8: 61,390,369 (GRCm39)	K164E	probably benign	Het
Clip4	A	C	17: 72,163,459 (GRCm39)	K677T	probably damaging	Het
Cntln	T	C	4: 84,802,816 (GRCm39)	S39P	probably damaging	Het
Crocc2	T	A	1: 93,143,353 (GRCm39)	N1318K	probably benign	Het
Emc1	C	T	4: 139,098,976 (GRCm39)	Q820*	probably null	Het
Fbxl2	G	A	9: 113,818,451 (GRCm39)	T170I	probably damaging	Het
Fyb2	A	G	4: 104,852,975 (GRCm39)	T552A	probably damaging	Het
Garin5b	A	G	7: 4,762,358 (GRCm39)	V257A	probably benign	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hspg2	T	C	4: 137,269,006 (GRCm39)	Y2213H	probably damaging	Het
Ifnar2	T	C	16: 91,184,986 (GRCm39)	Y24H	possibly damaging	Het
Inpp5d	T	A	1: 87,627,397 (GRCm39)	L566Q	probably damaging	Het
Itgb2	C	A	10: 77,384,431 (GRCm39)	P184H	probably damaging	Het
Kcnb2	T	A	1: 15,781,436 (GRCm39)	D769E	probably benign	Het
Lrp1b	A	G	2: 40,741,666 (GRCm39)	M3087T	possibly damaging	Het
Ltbp3	A	G	19: 5,795,800 (GRCm39)		probably null	Het
Ms4a6b	A	G	19: 11,497,728 (GRCm39)	E9G	probably damaging	Het
Nat3	G	A	8: 67,976,831 (GRCm39)		probably null	Het
Ndufaf1	A	T	2: 119,490,534 (GRCm39)	D175E	probably damaging	Het
Nop58	T	G	1: 59,750,471 (GRCm39)		probably benign	Het
Or10al6	A	G	17: 38,083,326 (GRCm39)	T261A	probably benign	Het
Or8s16	A	G	15: 98,211,219 (GRCm39)	Y71H	possibly damaging	Het
P3h4	C	T	11: 100,302,575 (GRCm39)	E354K	probably benign	Het
Plekhm2	T	G	4: 141,356,843 (GRCm39)	T787P	possibly damaging	Het
Ppia	C	T	11: 6,368,230 (GRCm39)	T37I	probably benign	Het
Reln	T	A	5: 22,200,511 (GRCm39)	M1330L	probably benign	Het
Ric1	A	G	19: 29,539,426 (GRCm39)	E53G	probably benign	Het
Sgip1	T	A	4: 102,823,482 (GRCm39)	V721E	probably damaging	Het
Slc33a1	A	T	3: 63,850,709 (GRCm39)	D538E	probably benign	Het
Son	T	C	16: 91,471,629 (GRCm39)			Het
Srebf1	A	T	11: 60,094,341 (GRCm39)	S591R	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Taok2	G	A	7: 126,469,319 (GRCm39)	R1170W	probably damaging	Het
Tsc2	A	T	17: 24,845,688 (GRCm39)	V210E	probably benign	Het
Ttc6	T	A	12: 57,775,249 (GRCm39)	N1648K	possibly damaging	Het
Vgll3	C	T	16: 65,636,131 (GRCm39)	P94L	probably damaging	Het
Vmn2r54	A	T	7: 12,349,362 (GRCm39)	V740E	probably damaging	Het
Yeats2	A	G	16: 20,040,460 (GRCm39)	E1127G	possibly damaging	Het
Zfp709	T	A	8: 72,643,329 (GRCm39)	Y252N	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
IGL02479:Clrn2	APN	5	45,621,254 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGTGAAAGGAGCCACACTC -3'
(R):5'- TTCCAGACTGCAATAAAAGTGCC -3'

Sequencing Primer
(F):5'- AGGAGCCACACTCTGACCTTG -3'
(R):5'- GACTGCAATAAAAGTGCCCTTTAGC -3'

Posted On

2018-04-27