Incidental Mutation 'IGL02709:Clrn2'
ID 304491
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 # IGL02709
Quality Score
Status
Chromosome 5
Chromosomal Location 45611093-45621491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45617495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 122 (N122S)
Ref Sequence ENSEMBL: ENSMUSP00000058204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053250]
AlphaFold B2RVW2
Predicted Effect probably damaging
Transcript: ENSMUST00000053250
AA Change: N122S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058204
Gene: ENSMUSG00000049530
AA Change: N122S

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,654,619 (GRCm39) Y151C probably damaging Het
Aco1 G A 4: 40,180,199 (GRCm39) V367M possibly damaging Het
Acsm5 G A 7: 119,134,041 (GRCm39) W274* probably null Het
Ago1 G A 4: 126,347,433 (GRCm39) Q135* probably null Het
Bmpr1b A T 3: 141,562,314 (GRCm39) L291Q probably damaging Het
Cdcp1 A G 9: 123,002,879 (GRCm39) Y731H probably damaging Het
Col4a3 G T 1: 82,656,833 (GRCm39) G751W unknown Het
Ctsc C T 7: 87,957,347 (GRCm39) A294V probably damaging Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Dennd6b A T 15: 89,075,125 (GRCm39) probably benign Het
Dnah10 T A 5: 124,850,809 (GRCm39) Y1659* probably null Het
Dspp A C 5: 104,325,116 (GRCm39) D493A unknown Het
Dyrk1a C T 16: 94,486,102 (GRCm39) A445V probably benign Het
E030025P04Rik C A 11: 109,030,324 (GRCm39) probably benign Het
Ecpas A G 4: 58,872,699 (GRCm39) S201P possibly damaging Het
Foxd4 T C 19: 24,876,973 (GRCm39) H409R probably damaging Het
Fubp3 A G 2: 31,485,343 (GRCm39) probably benign Het
Herc1 A G 9: 66,404,962 (GRCm39) K4511E probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map1lc3b T A 8: 122,322,768 (GRCm39) L82Q probably damaging Het
Mcc A T 18: 44,578,877 (GRCm39) S844T possibly damaging Het
Mccc1 A T 3: 36,044,888 (GRCm39) *85K probably null Het
Memo1 G A 17: 74,552,027 (GRCm39) L90F probably damaging Het
Mfrp A G 9: 44,014,561 (GRCm39) H236R probably benign Het
Mmrn1 G A 6: 60,950,030 (GRCm39) D327N probably damaging Het
Mycbp2 T C 14: 103,392,697 (GRCm39) E3178G probably damaging Het
Pcsk9 A G 4: 106,304,886 (GRCm39) probably benign Het
Pros1 T C 16: 62,719,308 (GRCm39) L110P probably damaging Het
Reck A G 4: 43,913,791 (GRCm39) Y215C probably damaging Het
Ripk4 T C 16: 97,544,766 (GRCm39) D627G probably damaging Het
Rnf144a G T 12: 26,371,009 (GRCm39) H151N probably damaging Het
Slc39a9 T A 12: 80,713,421 (GRCm39) H106Q probably damaging Het
Stab2 A G 10: 86,682,029 (GRCm39) probably benign Het
Sympk T G 7: 18,781,463 (GRCm39) H806Q probably benign Het
Tars2 C A 3: 95,649,383 (GRCm39) probably benign Het
Thap3 T A 4: 152,070,169 (GRCm39) H75L probably damaging Het
Trappc8 T C 18: 20,970,235 (GRCm39) I918M possibly damaging Het
Ube2j2 T C 4: 156,041,788 (GRCm39) V249A probably damaging Het
Ubqln3 T G 7: 103,790,543 (GRCm39) T516P probably benign Het
Unc13c A G 9: 73,466,238 (GRCm39) S1810P probably benign Het
Vmn1r4 T A 6: 56,933,524 (GRCm39) Y9* probably null Het
Vmn1r89 T A 7: 12,954,131 (GRCm39) M221K probably damaging Het
Vmn2r1 G T 3: 64,012,355 (GRCm39) V739F probably benign Het
Vmn2r25 C T 6: 123,816,723 (GRCm39) R286Q possibly damaging Het
Vmn2r91 T A 17: 18,325,711 (GRCm39) Y110N possibly damaging Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Other mutations in Clrn2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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