Incidental Mutation 'IGL02483:Erc2'
ID295318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Erc2
Ensembl Gene ENSMUSG00000040640
Gene NameELKS/RAB6-interacting/CAST family member 2
SynonymsELKS2alpha, D14Ertd171e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02483
Quality Score
Status
Chromosome14
Chromosomal Location27622428-28478537 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 27653071 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 82 (L82Q)
Ref Sequence ENSEMBL: ENSMUSP00000147886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090302] [ENSMUST00000210135] [ENSMUST00000210327] [ENSMUST00000211087] [ENSMUST00000211145]
Predicted Effect probably damaging
Transcript: ENSMUST00000090302
AA Change: L82Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: L82Q

DomainStartEndE-ValueType
low complexity region 14 45 N/A INTRINSIC
low complexity region 121 133 N/A INTRINSIC
Pfam:Cast 150 907 N/A PFAM
low complexity region 916 928 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209752
Predicted Effect probably damaging
Transcript: ENSMUST00000210135
AA Change: L82Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000210327
AA Change: L82Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000211087
AA Change: L82Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000211145
AA Change: L82Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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 encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for targeted disruptions of this gene are viable and fertile. However, homozygotes for one allele display abnormal CNS synaptic transmission. Homozygotes for a second allele display retinal abnormalities and impaired vision. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T G 8: 83,725,253 I512L probably damaging Het
Ahnak C A 19: 9,003,308 T652N probably benign Het
Akr1b8 G A 6: 34,363,794 A209T probably damaging Het
Arnt2 T A 7: 84,251,397 H659L probably damaging Het
Cad A G 5: 31,060,826 probably null Het
Car6 T A 4: 150,196,129 N86I probably damaging Het
Cfap57 T A 4: 118,581,105 E863V probably damaging Het
Cyp2c39 T A 19: 39,536,787 I178N probably damaging Het
Cysltr1 C A X: 106,578,122 V253L probably damaging Het
Dgcr6 G A 16: 18,065,174 A6T possibly damaging Het
Dis3l T C 9: 64,319,080 probably null Het
Ercc6l T C X: 102,144,669 T745A probably benign Het
Fam192a A G 8: 94,588,766 probably benign Het
Fmo4 A G 1: 162,808,421 V54A possibly damaging Het
Foxd3 C T 4: 99,657,028 S135F probably damaging Het
Fut7 T A 2: 25,423,876 F21Y possibly damaging Het
Gata4 T C 14: 63,200,461 T414A probably benign Het
Gm4950 A T 18: 51,865,334 M183K probably damaging Het
Gmps A G 3: 64,014,352 D592G probably damaging Het
Hpd A T 5: 123,182,578 probably null Het
Imp4 T C 1: 34,444,275 probably null Het
Itgbl1 A T 14: 123,827,743 probably benign Het
Kcnt2 T C 1: 140,354,561 probably benign Het
Kdr C T 5: 75,936,294 probably null Het
Lca5 A T 9: 83,423,117 I212N probably damaging Het
Lgr6 T C 1: 135,001,691 probably benign Het
Lrrc28 T C 7: 67,617,983 probably benign Het
Madd T G 2: 91,178,036 T174P probably damaging Het
Map3k8 A G 18: 4,349,318 probably benign Het
Mcm3 A G 1: 20,803,572 S775P possibly damaging Het
Myh10 G A 11: 68,802,168 A1393T probably benign Het
Nbas C T 12: 13,324,294 A541V probably damaging Het
Nbeal2 G A 9: 110,625,995 Q2578* probably null Het
Nlrp4f T A 13: 65,194,734 T366S probably benign Het
Olfr117 A G 17: 37,659,472 L287P probably damaging Het
Olfr1216 G T 2: 89,013,203 T287N probably damaging Het
Olfr1335 C T 4: 118,809,499 V122M probably benign Het
Oma1 C T 4: 103,325,112 R271* probably null Het
Plekhh2 T C 17: 84,596,260 F1058S possibly damaging Het
Psen2 T A 1: 180,235,061 M239L probably damaging Het
Rad50 A G 11: 53,680,049 I794T probably benign Het
Rgs12 A G 5: 35,030,517 E506G probably damaging Het
Rnpepl1 C T 1: 92,915,907 P250S probably damaging Het
Sfr1 G A 19: 47,732,788 probably benign Het
Tmem184a T C 5: 139,813,077 E39G probably benign Het
Trim66 C T 7: 109,477,630 probably benign Het
Ugt2b35 A G 5: 87,001,145 Y85C possibly damaging Het
Uts2r G T 11: 121,160,387 G26C possibly damaging Het
Vmn2r88 A T 14: 51,414,154 E308D probably benign Het
Wdr61 T C 9: 54,728,261 I19V probably damaging Het
Other mutations in Erc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Erc2 APN 14 28040521 missense probably damaging 0.98
IGL01862:Erc2 APN 14 28271569 splice site probably benign
IGL01906:Erc2 APN 14 28141306 missense probably damaging 0.99
IGL02177:Erc2 APN 14 27898623 missense probably benign 0.00
IGL02481:Erc2 APN 14 27653071 missense probably damaging 1.00
IGL02623:Erc2 APN 14 27776980 missense probably damaging 1.00
IGL03252:Erc2 APN 14 28475649 utr 3 prime probably benign
IGL03378:Erc2 APN 14 28011723 missense probably damaging 1.00
lobe UTSW 14 28317251 missense probably damaging 0.96
R0091:Erc2 UTSW 14 27776824 critical splice acceptor site probably null
R0309:Erc2 UTSW 14 28141225 missense probably damaging 0.98
R0357:Erc2 UTSW 14 27777022 missense probably damaging 0.99
R0378:Erc2 UTSW 14 28011694 missense probably damaging 1.00
R0550:Erc2 UTSW 14 28271651 missense possibly damaging 0.74
R0815:Erc2 UTSW 14 28025148 missense probably benign 0.04
R0863:Erc2 UTSW 14 28025148 missense probably benign 0.04
R1121:Erc2 UTSW 14 28475655 utr 3 prime probably benign
R1164:Erc2 UTSW 14 28302972 missense probably damaging 0.99
R1498:Erc2 UTSW 14 28302898 missense probably benign 0.27
R1500:Erc2 UTSW 14 28271660 missense probably damaging 0.98
R1555:Erc2 UTSW 14 28011665 missense probably damaging 0.99
R1894:Erc2 UTSW 14 28141228 missense probably damaging 0.99
R1950:Erc2 UTSW 14 27912900 missense probably damaging 0.99
R1991:Erc2 UTSW 14 28011636 missense probably benign 0.34
R2698:Erc2 UTSW 14 28271705 missense probably benign 0.06
R2847:Erc2 UTSW 14 28040488 missense probably damaging 0.97
R3015:Erc2 UTSW 14 28011775 critical splice donor site probably null
R3612:Erc2 UTSW 14 27777177 missense possibly damaging 0.69
R3759:Erc2 UTSW 14 28025163 missense possibly damaging 0.94
R3857:Erc2 UTSW 14 28475642 utr 3 prime probably benign
R3858:Erc2 UTSW 14 28475642 utr 3 prime probably benign
R3859:Erc2 UTSW 14 28475642 utr 3 prime probably benign
R4556:Erc2 UTSW 14 28302904 missense probably damaging 1.00
R4739:Erc2 UTSW 14 27776881 missense probably damaging 1.00
R4898:Erc2 UTSW 14 27653328 missense probably damaging 1.00
R5068:Erc2 UTSW 14 28302943 missense possibly damaging 0.63
R5113:Erc2 UTSW 14 27652872 missense probably benign 0.40
R5418:Erc2 UTSW 14 27966510 missense probably benign 0.14
R5741:Erc2 UTSW 14 28302869 splice site probably null
R5819:Erc2 UTSW 14 28141369 missense probably damaging 0.97
R5930:Erc2 UTSW 14 27776858 missense probably damaging 0.99
R6073:Erc2 UTSW 14 28011636 missense probably benign 0.00
R6150:Erc2 UTSW 14 28141291 missense probably damaging 0.97
R6182:Erc2 UTSW 14 28317253 missense probably damaging 0.99
R6188:Erc2 UTSW 14 28317251 missense probably damaging 0.96
R6267:Erc2 UTSW 14 28080155 missense probably damaging 1.00
R6296:Erc2 UTSW 14 28080155 missense probably damaging 1.00
R6730:Erc2 UTSW 14 27898567 missense possibly damaging 0.95
R6969:Erc2 UTSW 14 27898596 missense probably damaging 1.00
R7095:Erc2 UTSW 14 27898593 missense probably damaging 0.99
R7221:Erc2 UTSW 14 27653158 missense probably damaging 0.97
R7365:Erc2 UTSW 14 28040389 missense probably damaging 1.00
R7454:Erc2 UTSW 14 28302991 missense possibly damaging 0.92
Posted On2015-04-16