Incidental Mutation 'IGL01585:Clrn2'
ID93343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clrn2
Ensembl Gene ENSMUSG00000049530
Gene Nameclarin 2
SynonymsEG624224
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL01585
Quality Score
Status
Chromosome5
Chromosomal Location45453751-45464149 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45460158 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 124 (I124V)
Ref Sequence ENSEMBL: ENSMUSP00000058204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053250]
Predicted Effect probably benign
Transcript: ENSMUST00000053250
AA Change: I124V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000058204
Gene: ENSMUSG00000049530
AA Change: I124V

DomainStartEndE-ValueType
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T G 7: 131,244,758 V637G probably damaging Het
Abca12 T C 1: 71,319,886 D587G probably benign Het
Adcy1 T A 11: 7,167,143 N1003K probably damaging Het
Alpk1 T C 3: 127,679,813 D847G probably benign Het
Atp5a1 T C 18: 77,781,058 V417A possibly damaging Het
Avp A C 2: 130,580,709 S159A probably benign Het
Brca2 C A 5: 150,539,516 A915D possibly damaging Het
Cdc42bpg G A 19: 6,320,432 R1185H possibly damaging Het
Cntn4 A T 6: 106,618,328 K469* probably null Het
Cxcl1 T A 5: 90,891,724 N70K probably damaging Het
Dbf4 A G 5: 8,408,492 probably null Het
Fbn1 A T 2: 125,360,110 V1281E probably damaging Het
Fgfr3 A T 5: 33,733,961 Q523L probably damaging Het
Golga5 A G 12: 102,479,695 K403R probably benign Het
Gpr22 A G 12: 31,709,337 I262T probably benign Het
Gstm3 G T 3: 107,966,158 Q166K probably benign Het
Ilf2 T A 3: 90,484,542 N183K probably damaging Het
Ip6k2 T A 9: 108,796,313 L40Q probably damaging Het
Itga8 A T 2: 12,160,312 probably benign Het
Lbr T A 1: 181,825,643 R70* probably null Het
Lilra6 T C 7: 3,914,499 T166A probably benign Het
Map3k4 T C 17: 12,248,959 K1063E probably damaging Het
Msi1 T C 5: 115,430,890 probably null Het
Pam A G 1: 97,864,472 V408A probably damaging Het
Plxna1 A G 6: 89,329,556 probably null Het
Ppp1r36 A T 12: 76,439,117 probably null Het
Prrt4 A G 6: 29,177,690 S27P probably benign Het
Psmg1 G A 16: 95,988,021 T112I possibly damaging Het
Rfx7 T G 9: 72,617,061 I511S probably benign Het
Ros1 G A 10: 52,155,102 T481M probably damaging Het
Scfd1 A G 12: 51,415,553 D397G probably damaging Het
Sel1l3 A G 5: 53,154,236 Y636H probably damaging Het
Sgms1 T G 19: 32,142,845 R220S probably damaging Het
Slc37a3 A T 6: 39,337,262 I472N probably damaging Het
Syne2 A G 12: 75,949,060 probably null Het
Tert T C 13: 73,634,344 V579A probably benign Het
Ush2a A T 1: 188,430,727 H1002L probably damaging Het
Other mutations in Clrn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Clrn2 APN 5 45463969 utr 3 prime probably benign
IGL01538:Clrn2 APN 5 45460066 missense probably damaging 1.00
IGL01783:Clrn2 APN 5 45460161 missense probably benign
IGL02479:Clrn2 APN 5 45463912 missense probably benign 0.03
IGL02709:Clrn2 APN 5 45460153 missense probably damaging 1.00
IGL03220:Clrn2 APN 5 45463728 missense probably damaging 1.00
R1443:Clrn2 UTSW 5 45460111 missense probably damaging 1.00
R1942:Clrn2 UTSW 5 45453995 missense probably benign 0.26
R2258:Clrn2 UTSW 5 45453962 missense probably benign 0.03
R4806:Clrn2 UTSW 5 45454004 missense probably damaging 1.00
R5943:Clrn2 UTSW 5 45463719 missense probably benign 0.01
R5987:Clrn2 UTSW 5 45454027 missense probably benign 0.09
R6029:Clrn2 UTSW 5 45460186 missense probably damaging 1.00
R6371:Clrn2 UTSW 5 45460198 missense possibly damaging 0.62
R6474:Clrn2 UTSW 5 45463732 missense probably benign 0.04
R6881:Clrn2 UTSW 5 45453822 nonsense probably null
R6939:Clrn2 UTSW 5 45453754 unclassified probably benign
R7156:Clrn2 UTSW 5 45453916 missense probably damaging 0.99
R7186:Clrn2 UTSW 5 45453773 unclassified probably benign
R7392:Clrn2 UTSW 5 45463909 missense possibly damaging 0.52
Posted On2013-12-09