Incidental Mutation 'IGL01538:Clrn2'
ID 90067
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: 0.071) question?
Stock # IGL01538
Quality Score
Status
Chromosome 5
Chromosomal Location 45611093-45621491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 45617408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 93 (L93R)
Ref Sequence ENSEMBL: ENSMUSP00000058204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053250]
AlphaFold B2RVW2
Predicted Effect probably damaging
Transcript: ENSMUST00000053250
AA Change: L93R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058204
Gene: ENSMUSG00000049530
AA Change: L93R

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,708,032 (GRCm39) noncoding transcript Het
Abca3 G T 17: 24,595,447 (GRCm39) C328F possibly damaging Het
Aldh5a1 T C 13: 25,102,495 (GRCm39) N323D possibly damaging Het
Atp5f1c T C 2: 10,073,477 (GRCm39) Y32C probably damaging Het
Capn3 T G 2: 120,332,667 (GRCm39) probably null Het
Ccdc113 C A 8: 96,277,866 (GRCm39) D275E probably benign Het
Ccdc40 T A 11: 119,133,545 (GRCm39) F562I possibly damaging Het
Ccn6 A G 10: 39,034,306 (GRCm39) Y99H probably damaging Het
Cd96 T C 16: 45,929,490 (GRCm39) T152A possibly damaging Het
Cdh20 T A 1: 109,988,870 (GRCm39) D257E probably damaging Het
Cilp2 T C 8: 70,333,854 (GRCm39) D1048G probably benign Het
Crat C A 2: 30,299,978 (GRCm39) G134V probably damaging Het
Dis3 A T 14: 99,335,181 (GRCm39) N140K probably benign Het
Dmxl2 T A 9: 54,352,660 (GRCm39) probably benign Het
Dus1l T A 11: 120,683,905 (GRCm39) Q181L probably damaging Het
Ece1 A G 4: 137,675,855 (GRCm39) T410A probably benign Het
Gcc1 T A 6: 28,421,047 (GRCm39) H90L probably damaging Het
Gpr152 T A 19: 4,192,951 (GRCm39) V164E probably damaging Het
Grik3 A C 4: 125,587,829 (GRCm39) I650L possibly damaging Het
Gvin3 T C 7: 106,201,744 (GRCm39) D500G probably damaging Het
Gzmm A T 10: 79,530,896 (GRCm39) T233S probably benign Het
H2-Q4 T A 17: 35,602,288 (GRCm39) V341D probably benign Het
Igsf21 A G 4: 139,755,029 (GRCm39) probably benign Het
Kmt2d T C 15: 98,758,538 (GRCm39) probably benign Het
Kntc1 T G 5: 123,919,721 (GRCm39) V864G probably damaging Het
Lnx1 T C 5: 74,780,816 (GRCm39) E235G possibly damaging Het
Man2b1 G T 8: 85,824,059 (GRCm39) K985N probably benign Het
Map4k1 C A 7: 28,701,044 (GRCm39) P670Q probably damaging Het
Mapk8ip1 C A 2: 92,219,319 (GRCm39) probably null Het
Mettl16 T A 11: 74,683,093 (GRCm39) Y178* probably null Het
Mrpl11 T A 19: 5,013,449 (GRCm39) probably null Het
Nup85 T C 11: 115,460,540 (GRCm39) S140P possibly damaging Het
Or14c44 T C 7: 86,062,167 (GRCm39) L199P possibly damaging Het
Or1j20 T C 2: 36,760,532 (GRCm39) probably benign Het
Or4k51 T A 2: 111,585,350 (GRCm39) V252E probably damaging Het
Or5w16 T C 2: 87,576,942 (GRCm39) V134A probably benign Het
Pcdhb2 T A 18: 37,428,375 (GRCm39) L116* probably null Het
Pdcd7 C A 9: 65,253,985 (GRCm39) R188S probably damaging Het
Pdk2 T C 11: 94,918,111 (GRCm39) Y374C probably damaging Het
Ppp1r12a G T 10: 108,069,882 (GRCm39) D224Y probably damaging Het
Ppp2r2d T A 7: 138,478,364 (GRCm39) Y169N probably damaging Het
Prcp A C 7: 92,559,421 (GRCm39) T162P probably benign Het
Prkd1 A G 12: 50,388,925 (GRCm39) S873P probably benign Het
Ptpn2 T C 18: 67,814,623 (GRCm39) T129A probably benign Het
Rtkn G A 6: 83,123,042 (GRCm39) R68H probably damaging Het
Sall4 C T 2: 168,597,776 (GRCm39) D355N probably damaging Het
Scn7a A G 2: 66,534,196 (GRCm39) V493A probably benign Het
Sema4b G A 7: 79,865,444 (GRCm39) A140T probably damaging Het
Shisa6 C A 11: 66,108,654 (GRCm39) G408C possibly damaging Het
Slc7a9 G T 7: 35,153,589 (GRCm39) V197F probably damaging Het
Spata2 A T 2: 167,326,071 (GRCm39) D249E probably damaging Het
Stk36 T A 1: 74,672,797 (GRCm39) V1013E probably benign Het
Tcp10a T C 17: 7,610,899 (GRCm39) V336A probably damaging Het
Tfb2m A T 1: 179,365,409 (GRCm39) V185D possibly damaging Het
Tgm7 T A 2: 120,937,396 (GRCm39) Y76F probably benign Het
Tph1 T C 7: 46,303,177 (GRCm39) Y267C probably damaging Het
Trgv1 G A 13: 19,520,740 (GRCm39) probably benign Het
Ube2d1 A G 10: 71,091,656 (GRCm39) probably benign Het
Vmn2r12 C A 5: 109,239,716 (GRCm39) R282S probably damaging Het
Vps4a A G 8: 107,763,556 (GRCm39) D72G probably benign Het
Wipf2 T A 11: 98,781,629 (GRCm39) V56D possibly damaging Het
Zfp750 C A 11: 121,402,991 (GRCm39) V586L probably benign Het
Zfp831 A G 2: 174,486,399 (GRCm39) E358G possibly damaging Het
Other mutations in Clrn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Clrn2 APN 5 45,621,311 (GRCm39) utr 3 prime probably benign
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
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 2013-12-03