Incidental Mutation 'R1164:Erc2'
ID 100848
Institutional Source Beutler Lab
Gene Symbol Erc2
Ensembl Gene ENSMUSG00000040640
Gene Name ELKS/RAB6-interacting/CAST family member 2
Synonyms D14Ertd171e, ELKS2alpha, CAST
MMRRC Submission 039237-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1164 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 27344385-28200494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28024929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 603 (R603G)
Ref Sequence ENSEMBL: ENSMUSP00000147744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090302] [ENSMUST00000210135] [ENSMUST00000210924] [ENSMUST00000211145]
AlphaFold Q6PH08
Predicted Effect probably benign
Transcript: ENSMUST00000090302
AA Change: R933G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: R933G

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: ENSMUST00000209800
Predicted Effect probably benign
Transcript: ENSMUST00000210135
AA Change: R957G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210924
AA Change: R603G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211145
AA Change: R937G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,621,305 (GRCm39) M1055K probably damaging Het
Adprh A T 16: 38,270,702 (GRCm39) D34E probably benign Het
Aldh1a1 A T 19: 20,595,310 (GRCm39) M80L probably benign Het
Arap2 T A 5: 62,840,820 (GRCm39) D682V probably damaging Het
Atp4a T A 7: 30,417,117 (GRCm39) L500Q probably benign Het
Atp6v1c2 T C 12: 17,358,317 (GRCm39) E10G probably damaging Het
B4galt2 G A 4: 117,734,141 (GRCm39) R299W possibly damaging Het
Bltp3a T C 17: 28,114,354 (GRCm39) probably null Het
Brinp1 A C 4: 68,716,928 (GRCm39) S307A probably benign Het
Cacna2d1 G A 5: 16,566,874 (GRCm39) probably null Het
Ccdc3 T C 2: 5,146,077 (GRCm39) V137A possibly damaging Het
Ccnb1ip1 T C 14: 51,029,594 (GRCm39) K156R possibly damaging Het
Cfap77 A T 2: 28,852,700 (GRCm39) W191R probably damaging Het
Chga A G 12: 102,529,304 (GRCm39) E427G probably damaging Het
Chrnd A T 1: 87,120,267 (GRCm39) Y32F probably benign Het
Cks1b C A 3: 89,323,249 (GRCm39) probably benign Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dip2a C A 10: 76,112,231 (GRCm39) R1098L possibly damaging Het
Dmbx1 T A 4: 115,775,455 (GRCm39) H275L probably damaging Het
Dmrt2 A G 19: 25,655,357 (GRCm39) M319V possibly damaging Het
Dock8 A G 19: 25,067,391 (GRCm39) Y345C probably benign Het
Dpp6 A G 5: 27,926,103 (GRCm39) T668A probably benign Het
Eef1d A G 15: 75,774,526 (GRCm39) probably null Het
Epb41l3 A G 17: 69,581,762 (GRCm39) T568A possibly damaging Het
Fam83d T C 2: 158,625,170 (GRCm39) S254P probably damaging Het
Fcgr4 A T 1: 170,856,739 (GRCm39) H202L possibly damaging Het
Gm4922 C T 10: 18,659,469 (GRCm39) A418T possibly damaging Het
Kmo A G 1: 175,486,125 (GRCm39) H416R probably benign Het
Lao1 A G 4: 118,822,602 (GRCm39) N174S probably benign Het
Lrwd1 A T 5: 136,159,844 (GRCm39) H406Q probably benign Het
Magoh A G 4: 107,744,459 (GRCm39) I143V probably benign Het
Mpz A G 1: 170,986,008 (GRCm39) H49R possibly damaging Het
Nav1 T C 1: 135,400,148 (GRCm39) N474S probably benign Het
Ndufb10 T G 17: 24,941,757 (GRCm39) E68D probably benign Het
Obscn T C 11: 58,926,913 (GRCm39) D5534G possibly damaging Het
Or13c7d T C 4: 43,770,991 (GRCm39) T7A probably benign Het
Or14j5 T A 17: 38,161,575 (GRCm39) F31I probably damaging Het
Or1j16 A T 2: 36,530,132 (GRCm39) Y27F probably benign Het
Or4d10 A T 19: 12,051,605 (GRCm39) Y130* probably null Het
Or52l1 A T 7: 104,830,040 (GRCm39) F160Y probably benign Het
Or8k30 C A 2: 86,339,028 (GRCm39) T75K probably damaging Het
Padi1 A T 4: 140,559,640 (GRCm39) V79E possibly damaging Het
Pdha2 A G 3: 140,917,260 (GRCm39) Y83H probably damaging Het
Phpt1 A G 2: 25,464,727 (GRCm39) I42T probably damaging Het
Pot1b A C 17: 55,981,085 (GRCm39) S310A probably benign Het
Ptpn13 G A 5: 103,637,639 (GRCm39) V176I probably damaging Het
Ptprf A G 4: 118,114,689 (GRCm39) S189P probably damaging Het
Rere A T 4: 150,619,341 (GRCm39) Q381L unknown Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Scn8a G A 15: 100,938,043 (GRCm39) C1804Y probably benign Het
Sema3c G A 5: 17,883,312 (GRCm39) D307N probably benign Het
Siah2 T C 3: 58,583,737 (GRCm39) E183G probably benign Het
Smarca5 G A 8: 81,437,260 (GRCm39) L699F probably damaging Het
Smo T A 6: 29,754,718 (GRCm39) S263T probably benign Het
Sox2 A G 3: 34,704,848 (GRCm39) E95G probably damaging Het
T T C 17: 8,658,771 (GRCm39) S171P probably benign Het
Tmc7 G T 7: 118,141,247 (GRCm39) A628D probably benign Het
Tmem45a2 A G 16: 56,869,789 (GRCm39) S52P probably damaging Het
Tubb3 C T 8: 124,148,186 (GRCm39) A373V probably damaging Het
Upp2 A G 2: 58,653,716 (GRCm39) Y69C probably damaging Het
Utp4 A G 8: 107,627,476 (GRCm39) probably null Het
Vmn1r59 T A 7: 5,457,410 (GRCm39) M117L probably benign Het
Xkr8 T C 4: 132,459,722 (GRCm39) S19G probably benign Het
Zbed6 G A 1: 133,586,941 (GRCm39) T132I probably damaging Het
Zbtb24 T C 10: 41,340,523 (GRCm39) Y518H probably damaging Het
Zfp324 T C 7: 12,705,551 (GRCm39) I580T probably benign Het
Zfp995 G A 17: 22,098,960 (GRCm39) H425Y probably damaging Het
Other mutations in Erc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Erc2 APN 14 27,762,478 (GRCm39) missense probably damaging 0.98
IGL01862:Erc2 APN 14 27,993,526 (GRCm39) splice site probably benign
IGL01906:Erc2 APN 14 27,863,263 (GRCm39) missense probably damaging 0.99
IGL02177:Erc2 APN 14 27,620,580 (GRCm39) missense probably benign 0.00
IGL02481:Erc2 APN 14 27,375,028 (GRCm39) missense probably damaging 1.00
IGL02483:Erc2 APN 14 27,375,028 (GRCm39) missense probably damaging 1.00
IGL02623:Erc2 APN 14 27,498,937 (GRCm39) missense probably damaging 1.00
IGL03252:Erc2 APN 14 28,197,606 (GRCm39) utr 3 prime probably benign
IGL03378:Erc2 APN 14 27,733,680 (GRCm39) missense probably damaging 1.00
lobe UTSW 14 28,039,208 (GRCm39) missense probably damaging 0.96
R0091:Erc2 UTSW 14 27,498,781 (GRCm39) critical splice acceptor site probably null
R0309:Erc2 UTSW 14 27,863,182 (GRCm39) missense probably damaging 0.98
R0357:Erc2 UTSW 14 27,498,979 (GRCm39) missense probably damaging 0.99
R0378:Erc2 UTSW 14 27,733,651 (GRCm39) missense probably damaging 1.00
R0550:Erc2 UTSW 14 27,993,608 (GRCm39) missense possibly damaging 0.74
R0815:Erc2 UTSW 14 27,747,105 (GRCm39) missense probably benign 0.04
R0863:Erc2 UTSW 14 27,747,105 (GRCm39) missense probably benign 0.04
R1121:Erc2 UTSW 14 28,197,612 (GRCm39) utr 3 prime probably benign
R1498:Erc2 UTSW 14 28,024,855 (GRCm39) missense probably benign 0.27
R1500:Erc2 UTSW 14 27,993,617 (GRCm39) missense probably damaging 0.98
R1555:Erc2 UTSW 14 27,733,622 (GRCm39) missense probably damaging 0.99
R1894:Erc2 UTSW 14 27,863,185 (GRCm39) missense probably damaging 0.99
R1950:Erc2 UTSW 14 27,634,857 (GRCm39) missense probably damaging 0.99
R1991:Erc2 UTSW 14 27,733,593 (GRCm39) missense probably benign 0.34
R2698:Erc2 UTSW 14 27,993,662 (GRCm39) missense probably benign 0.06
R2847:Erc2 UTSW 14 27,762,445 (GRCm39) missense probably damaging 0.97
R3015:Erc2 UTSW 14 27,733,732 (GRCm39) critical splice donor site probably null
R3612:Erc2 UTSW 14 27,499,134 (GRCm39) missense possibly damaging 0.69
R3759:Erc2 UTSW 14 27,747,120 (GRCm39) missense possibly damaging 0.94
R3857:Erc2 UTSW 14 28,197,599 (GRCm39) utr 3 prime probably benign
R3858:Erc2 UTSW 14 28,197,599 (GRCm39) utr 3 prime probably benign
R3859:Erc2 UTSW 14 28,197,599 (GRCm39) utr 3 prime probably benign
R4556:Erc2 UTSW 14 28,024,861 (GRCm39) missense probably damaging 1.00
R4739:Erc2 UTSW 14 27,498,838 (GRCm39) missense probably damaging 1.00
R4898:Erc2 UTSW 14 27,375,285 (GRCm39) missense probably damaging 1.00
R5068:Erc2 UTSW 14 28,024,900 (GRCm39) missense possibly damaging 0.63
R5113:Erc2 UTSW 14 27,374,829 (GRCm39) missense probably benign 0.40
R5418:Erc2 UTSW 14 27,688,467 (GRCm39) missense probably benign 0.14
R5741:Erc2 UTSW 14 28,024,826 (GRCm39) splice site probably null
R5819:Erc2 UTSW 14 27,863,326 (GRCm39) missense probably damaging 0.97
R5930:Erc2 UTSW 14 27,498,815 (GRCm39) missense probably damaging 0.99
R6073:Erc2 UTSW 14 27,733,593 (GRCm39) missense probably benign 0.00
R6150:Erc2 UTSW 14 27,863,248 (GRCm39) missense probably damaging 0.97
R6182:Erc2 UTSW 14 28,039,210 (GRCm39) missense probably damaging 0.99
R6188:Erc2 UTSW 14 28,039,208 (GRCm39) missense probably damaging 0.96
R6267:Erc2 UTSW 14 27,802,112 (GRCm39) missense probably damaging 1.00
R6296:Erc2 UTSW 14 27,802,112 (GRCm39) missense probably damaging 1.00
R6730:Erc2 UTSW 14 27,620,524 (GRCm39) missense possibly damaging 0.95
R6969:Erc2 UTSW 14 27,620,553 (GRCm39) missense probably damaging 1.00
R7095:Erc2 UTSW 14 27,620,550 (GRCm39) missense probably damaging 0.99
R7221:Erc2 UTSW 14 27,375,115 (GRCm39) missense probably damaging 0.97
R7365:Erc2 UTSW 14 27,762,346 (GRCm39) missense probably damaging 1.00
R7454:Erc2 UTSW 14 28,024,948 (GRCm39) missense possibly damaging 0.92
R7763:Erc2 UTSW 14 27,598,161 (GRCm39) critical splice donor site probably null
R7784:Erc2 UTSW 14 27,620,551 (GRCm39) missense probably damaging 0.96
R7890:Erc2 UTSW 14 27,762,298 (GRCm39) critical splice acceptor site probably null
R7894:Erc2 UTSW 14 27,499,165 (GRCm39) missense probably damaging 1.00
R8031:Erc2 UTSW 14 27,733,649 (GRCm39) missense probably damaging 0.99
R8206:Erc2 UTSW 14 28,024,972 (GRCm39) splice site probably null
R8273:Erc2 UTSW 14 27,499,096 (GRCm39) missense probably benign 0.41
R8304:Erc2 UTSW 14 27,375,122 (GRCm39) missense probably damaging 0.99
R8387:Erc2 UTSW 14 27,375,253 (GRCm39) missense possibly damaging 0.92
R8751:Erc2 UTSW 14 27,802,145 (GRCm39) missense possibly damaging 0.78
R8851:Erc2 UTSW 14 28,039,216 (GRCm39) missense probably null 0.99
R9130:Erc2 UTSW 14 27,751,418 (GRCm39) missense probably benign 0.25
R9292:Erc2 UTSW 14 27,498,799 (GRCm39) missense probably damaging 1.00
R9441:Erc2 UTSW 14 27,802,114 (GRCm39) missense possibly damaging 0.58
R9452:Erc2 UTSW 14 27,733,690 (GRCm39) missense probably damaging 1.00
R9529:Erc2 UTSW 14 28,197,723 (GRCm39) missense unknown
Predicted Primers
Posted On 2014-01-15