Incidental Mutation 'R5113:Erc2'
ID 394040
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 042701-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5113 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 27344385-28200494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27374829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 16 (S16P)
Ref Sequence ENSEMBL: ENSMUSP00000148076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090302] [ENSMUST00000210135] [ENSMUST00000210327] [ENSMUST00000211087] [ENSMUST00000211145]
AlphaFold Q6PH08
Predicted Effect probably benign
Transcript: ENSMUST00000090302
AA Change: S16P

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640
AA Change: S16P

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 benign
Transcript: ENSMUST00000210135
AA Change: S16P

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000210327
AA Change: S16P

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000211087
AA Change: S16P

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000211145
AA Change: S16P

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
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
Alox12e A G 11: 70,206,821 (GRCm39) V622A possibly damaging Het
Ankef1 A G 2: 136,394,361 (GRCm39) N590S probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano3 A T 2: 110,491,825 (GRCm39) N867K possibly damaging Het
Ash1l T C 3: 88,973,582 (GRCm39) V2547A probably damaging Het
Chil5 A T 3: 105,925,294 (GRCm39) V209E possibly damaging Het
Cltc A T 11: 86,613,147 (GRCm39) C459S probably damaging Het
Col6a4 T A 9: 105,944,159 (GRCm39) D1105V possibly damaging Het
Cyp2c66 A G 19: 39,151,882 (GRCm39) D199G probably benign Het
Cyp4f18 A G 8: 72,742,902 (GRCm39) probably null Het
Cysrt1 A T 2: 25,129,363 (GRCm39) C50S possibly damaging Het
Dapk1 A G 13: 60,869,592 (GRCm39) K278R probably benign Het
Eefsec C A 6: 88,258,557 (GRCm39) S512I probably damaging Het
Emilin1 T C 5: 31,077,964 (GRCm39) F908L possibly damaging Het
Eml1 T C 12: 108,503,596 (GRCm39) V731A possibly damaging Het
Gfpt2 A G 11: 49,714,626 (GRCm39) R342G probably damaging Het
Gpr142 A T 11: 114,695,143 (GRCm39) Q36L probably benign Het
Grik5 A G 7: 24,714,952 (GRCm39) S681P probably damaging Het
Hecw1 A T 13: 14,520,614 (GRCm39) S208T possibly damaging Het
Hmgcr G A 13: 96,793,240 (GRCm39) A464V probably benign Het
Igkv2-109 A G 6: 68,280,069 (GRCm39) T97A possibly damaging Het
Ino80 G T 2: 119,262,426 (GRCm39) Q687K probably damaging Het
Kdm4d T C 9: 14,375,409 (GRCm39) N150D probably damaging Het
Klf4 A G 4: 55,530,481 (GRCm39) I210T possibly damaging Het
Klkb1 C A 8: 45,723,734 (GRCm39) Q560H probably benign Het
Lce1a2 A T 3: 92,576,442 (GRCm39) V40E unknown Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Mipol1 C T 12: 57,543,285 (GRCm39) T393I probably benign Het
Mst1 A G 9: 107,959,446 (GRCm39) D244G probably damaging Het
Nexn G A 3: 151,949,525 (GRCm39) R258C probably damaging Het
Optc T C 1: 133,828,715 (GRCm39) probably benign Het
Or10d5 T C 9: 39,861,221 (GRCm39) N282S probably damaging Het
Or11h23 A C 14: 50,948,371 (GRCm39) I195L probably benign Het
Or6c207 A G 10: 129,104,535 (GRCm39) I219T probably damaging Het
Or7a37 A G 10: 78,806,037 (GRCm39) I185V probably benign Het
Pabpc2 C A 18: 39,908,436 (GRCm39) P567Q probably benign Het
Pierce2 T A 9: 72,887,175 (GRCm39) R111* probably null Het
Ppm1j A G 3: 104,691,990 (GRCm39) H324R possibly damaging Het
Reg3g A T 6: 78,443,544 (GRCm39) probably null Het
Sipa1l1 C T 12: 82,487,682 (GRCm39) A1652V probably benign Het
Ski T C 4: 155,243,849 (GRCm39) T554A probably benign Het
Slfn5 G A 11: 82,852,522 (GRCm39) V883M probably benign Het
Stradb T C 1: 59,030,333 (GRCm39) probably benign Het
Tex19.1 A G 11: 121,038,625 (GRCm39) T328A probably benign Het
Tpsab1 T C 17: 25,564,373 (GRCm39) N27S possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttn A T 2: 76,643,244 (GRCm39) L13225Q probably damaging Het
Vmn1r28 A G 6: 58,242,843 (GRCm39) T229A probably benign Het
Wapl A G 14: 34,446,711 (GRCm39) K600E probably damaging Het
Zfp217 T C 2: 169,955,978 (GRCm39) probably null 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
R1164:Erc2 UTSW 14 28,024,929 (GRCm39) missense probably damaging 0.99
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
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 PCR Primer
(F):5'- GAGTGGAGTCATTTCCTGGTAC -3'
(R):5'- CCATACACCGCTCGATTTGTCG -3'

Sequencing Primer
(F):5'- CTCTTCAGTAGCACCACA -3'
(R):5'- GGGTAAGTTGTCGATGCCACC -3'
Posted On 2016-06-15