Incidental Mutation 'IGL02709:Clrn2'
ID304491
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: 0.132) question?
Stock #IGL02709
Quality Score
Status
Chromosome5
Chromosomal Location45453751-45464149 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45460153 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 122 (N122S)
Ref Sequence ENSEMBL: ENSMUSP00000058204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053250]
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
Aco1 G A 4: 40,180,199 V367M possibly damaging Het
Acsm5 G A 7: 119,534,818 W274* probably null Het
Ago1 G A 4: 126,453,640 Q135* probably null Het
AI314180 A G 4: 58,872,699 S201P possibly damaging Het
Bmpr1b A T 3: 141,856,553 L291Q probably damaging Het
Cdcp1 A G 9: 123,173,814 Y731H probably damaging Het
Col4a3 G T 1: 82,679,112 G751W unknown Het
Ctsc C T 7: 88,308,139 A294V probably damaging Het
Cyp26a1 T C 19: 37,699,978 L316P probably damaging Het
Dennd6b A T 15: 89,190,922 probably benign Het
Dnah10 T A 5: 124,773,745 Y1659* probably null Het
Dspp A C 5: 104,177,250 D493A unknown Het
Dyrk1a C T 16: 94,685,243 A445V probably benign Het
E030025P04Rik C A 11: 109,139,498 probably benign Het
Foxd4 T C 19: 24,899,609 H409R probably damaging Het
Fubp3 A G 2: 31,595,331 probably benign Het
Gm5538 A G 3: 59,747,198 Y151C probably damaging Het
Herc1 A G 9: 66,497,680 K4511E probably damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Map1lc3b T A 8: 121,596,029 L82Q probably damaging Het
Mcc A T 18: 44,445,810 S844T possibly damaging Het
Mccc1 A T 3: 35,990,739 *85K probably null Het
Memo1 G A 17: 74,245,032 L90F probably damaging Het
Mfrp A G 9: 44,103,264 H236R probably benign Het
Mmrn1 G A 6: 60,973,046 D327N probably damaging Het
Mycbp2 T C 14: 103,155,261 E3178G probably damaging Het
Pcsk9 A G 4: 106,447,689 probably benign Het
Pros1 T C 16: 62,898,945 L110P probably damaging Het
Reck A G 4: 43,913,791 Y215C probably damaging Het
Ripk4 T C 16: 97,743,566 D627G probably damaging Het
Rnf144a G T 12: 26,321,010 H151N probably damaging Het
Slc39a9 T A 12: 80,666,647 H106Q probably damaging Het
Stab2 A G 10: 86,846,165 probably benign Het
Sympk T G 7: 19,047,538 H806Q probably benign Het
Tars2 C A 3: 95,742,071 probably benign Het
Thap3 T A 4: 151,985,712 H75L probably damaging Het
Trappc8 T C 18: 20,837,178 I918M possibly damaging Het
Ube2j2 T C 4: 155,957,331 V249A probably damaging Het
Ubqln3 T G 7: 104,141,336 T516P probably benign Het
Unc13c A G 9: 73,558,956 S1810P probably benign Het
Vmn1r4 T A 6: 56,956,539 Y9* probably null Het
Vmn1r89 T A 7: 13,220,204 M221K probably damaging Het
Vmn2r1 G T 3: 64,104,934 V739F probably benign Het
Vmn2r25 C T 6: 123,839,764 R286Q possibly damaging Het
Vmn2r91 T A 17: 18,105,449 Y110N possibly damaging Het
Zbtb48 T C 4: 152,021,394 H418R 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
IGL01585:Clrn2 APN 5 45460158 missense probably benign 0.00
IGL01783:Clrn2 APN 5 45460161 missense probably benign
IGL02479:Clrn2 APN 5 45463912 missense probably benign 0.03
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 On2015-04-16