Incidental Mutation 'R0091:Erc2'
ID 20237
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 038378-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0091 (G1)
Quality Score 142
Status Validated (trace)
Chromosome 14
Chromosomal Location 27344385-28200494 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 27498781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090302] [ENSMUST00000090302] [ENSMUST00000210135] [ENSMUST00000210135] [ENSMUST00000211087] [ENSMUST00000211087] [ENSMUST00000211145] [ENSMUST00000211145]
AlphaFold Q6PH08
Predicted Effect probably null
Transcript: ENSMUST00000090302
SMART Domains Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640

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 probably null
Transcript: ENSMUST00000090302
SMART Domains Protein: ENSMUSP00000087773
Gene: ENSMUSG00000040640

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 null
Transcript: ENSMUST00000210135
Predicted Effect probably null
Transcript: ENSMUST00000210135
Predicted Effect probably null
Transcript: ENSMUST00000211087
Predicted Effect probably null
Transcript: ENSMUST00000211087
Predicted Effect probably null
Transcript: ENSMUST00000211145
Predicted Effect probably null
Transcript: ENSMUST00000211145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211627
Meta Mutation Damage Score 0.9488 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.9%
  • 10x: 94.4%
  • 20x: 84.5%
Validation Efficiency 98% (86/88)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,932,179 (GRCm39) S278P possibly damaging Het
Adam11 A G 11: 102,663,665 (GRCm39) Y281C probably damaging Het
Adam6a G T 12: 113,507,849 (GRCm39) R74L possibly damaging Het
Adcy5 T C 16: 35,091,368 (GRCm39) probably null Het
Adrb2 A G 18: 62,312,090 (GRCm39) L245P probably benign Het
Aebp2 T C 6: 140,589,800 (GRCm39) probably null Het
Arhgap23 A G 11: 97,343,070 (GRCm39) T240A probably benign Het
Atp10a T C 7: 58,423,794 (GRCm39) probably benign Het
Atp13a4 T A 16: 29,274,213 (GRCm39) Y416F probably damaging Het
Atp5mc2 A C 15: 102,571,492 (GRCm39) L133R probably damaging Het
Bicral A T 17: 47,136,233 (GRCm39) Y326N probably damaging Het
Chst4 T C 8: 110,757,297 (GRCm39) S189G probably damaging Het
Cnot1 A T 8: 96,489,772 (GRCm39) I477N probably damaging Het
Col7a1 G T 9: 108,796,574 (GRCm39) probably benign Het
Dchs1 A G 7: 105,415,301 (GRCm39) probably benign Het
Dcn A G 10: 97,342,551 (GRCm39) N169S probably benign Het
Dnajc6 T C 4: 101,473,974 (GRCm39) probably benign Het
Egln3 A G 12: 54,228,432 (GRCm39) F225L probably benign Het
Erap1 G A 13: 74,816,171 (GRCm39) R100Q possibly damaging Het
Fto G A 8: 92,168,435 (GRCm39) probably null Het
Gdap1l1 C T 2: 163,288,011 (GRCm39) P80S probably damaging Het
Gm1123 T C 9: 98,905,405 (GRCm39) E35G possibly damaging Het
Hhipl1 A G 12: 108,288,156 (GRCm39) probably benign Het
Ift80 A T 3: 68,822,008 (GRCm39) L679Q probably damaging Het
Il18 A G 9: 50,488,013 (GRCm39) probably benign Het
Inhbb T C 1: 119,345,125 (GRCm39) Y388C probably damaging Het
Kmt2d G T 15: 98,742,360 (GRCm39) probably benign Het
Krt20 A G 11: 99,328,640 (GRCm39) V95A probably damaging Het
Lck A T 4: 129,449,474 (GRCm39) S274R possibly damaging Het
Lrp1 T A 10: 127,376,848 (GRCm39) N4243I probably damaging Het
Lrrfip2 G A 9: 111,043,311 (GRCm39) V506I probably damaging Het
Ltbp2 A G 12: 84,840,507 (GRCm39) C1000R probably damaging Het
Matn3 G A 12: 9,002,105 (GRCm39) D106N probably damaging Het
Mical2 A G 7: 111,980,503 (GRCm39) E49G probably benign Het
Mmadhc A G 2: 50,182,869 (GRCm39) S36P probably damaging Het
Morn1 T C 4: 155,229,629 (GRCm39) Y433H probably damaging Het
Mpo A G 11: 87,692,436 (GRCm39) M525V probably benign Het
Myo5a C T 9: 75,068,774 (GRCm39) R659C probably damaging Het
Obox6 T C 7: 15,568,364 (GRCm39) S171G probably benign Het
Or1j18 A G 2: 36,624,917 (GRCm39) N195D probably damaging Het
Or4k36 T A 2: 111,146,518 (GRCm39) D231E probably benign Het
Or5g29 A T 2: 85,421,696 (GRCm39) N271Y probably benign Het
P2ry14 A G 3: 59,023,314 (GRCm39) Y49H probably benign Het
Papss2 C T 19: 32,611,302 (GRCm39) T17I possibly damaging Het
Pcid2 T C 8: 13,135,392 (GRCm39) T206A probably benign Het
Pex6 A G 17: 47,022,844 (GRCm39) E140G probably damaging Het
Ppp1r3b A G 8: 35,851,821 (GRCm39) Y220C probably damaging Het
Prdx2 T G 8: 85,698,330 (GRCm39) probably benign Het
Ptbp2 A T 3: 119,514,310 (GRCm39) L471Q probably damaging Het
Rbm33 T A 5: 28,557,604 (GRCm39) D232E possibly damaging Het
Rnf214 T A 9: 45,809,791 (GRCm39) probably null Het
Rora G A 9: 69,281,330 (GRCm39) R314H probably damaging Het
Rufy4 T C 1: 74,168,095 (GRCm39) probably benign Het
Sag T C 1: 87,742,402 (GRCm39) V58A probably damaging Het
Serpina3i C T 12: 104,231,423 (GRCm39) T20M probably damaging Het
Slc4a5 A G 6: 83,254,537 (GRCm39) N578S probably benign Het
Soat2 A G 15: 102,066,574 (GRCm39) Y285C probably damaging Het
Syk A G 13: 52,794,769 (GRCm39) Y478C probably damaging Het
Syne4 G A 7: 30,018,344 (GRCm39) G362E probably damaging Het
Tas2r126 A T 6: 42,412,036 (GRCm39) M190L probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Ttc19 A G 11: 62,199,910 (GRCm39) D218G probably damaging Het
Tut1 T C 19: 8,942,800 (GRCm39) V629A probably damaging Het
Txndc11 T C 16: 10,905,968 (GRCm39) N521D probably benign Het
Ushbp1 T C 8: 71,841,614 (GRCm39) E405G possibly damaging Het
Usp46 C T 5: 74,163,918 (GRCm39) R246Q probably benign Het
Utrn T C 10: 12,610,948 (GRCm39) D469G probably damaging Het
Vmn2r104 T A 17: 20,262,075 (GRCm39) I352F possibly damaging Het
Wdr4 G A 17: 31,715,890 (GRCm39) T398I probably benign Het
Ythdc1 T A 5: 86,968,560 (GRCm39) probably benign 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
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
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 PCR Primer
(F):5'- GCTGTCCCATGCTTCTGAAGTCAC -3'
(R):5'- AATGGACTCGTCTCGGGCATTG -3'

Sequencing Primer
(F):5'- TCTGAAGTCACCGTGGAGG -3'
(R):5'- TGTCTTCCGCAGAAGGAAC -3'
Posted On 2013-04-11