Incidental Mutation 'IGL01296:Mctp2'
ID 73143
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mctp2
Ensembl Gene ENSMUSG00000032776
Gene Name multiple C2 domains, transmembrane 2
Synonyms LOC244049
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # IGL01296
Quality Score
Status
Chromosome 7
Chromosomal Location 72077830-72306608 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72228526 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 268 (K268R)
Ref Sequence ENSEMBL: ENSMUSP00000078302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079323]
AlphaFold Q5RJH2
Predicted Effect probably benign
Transcript: ENSMUST00000079323
AA Change: K268R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: K268R

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
C2 195 291 7.5e-20 SMART
C2 357 451 1.27e-8 SMART
C2 510 606 5.38e-21 SMART
transmembrane domain 696 718 N/A INTRINSIC
Pfam:PRT_C 723 857 2.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206976
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A G 1: 66,841,705 (GRCm38) S301P probably damaging Het
Adam34 A G 8: 43,651,141 (GRCm38) V489A possibly damaging Het
Adcy8 G A 15: 64,783,779 (GRCm38) T617I probably damaging Het
Aggf1 T C 13: 95,353,971 (GRCm38) D605G probably damaging Het
Atp10a T A 7: 58,813,625 (GRCm38) F969I probably benign Het
Becn1 A T 11: 101,291,451 (GRCm38) N97K probably damaging Het
Cd4 G A 6: 124,879,378 (GRCm38) T50I probably benign Het
Crtac1 A T 19: 42,284,213 (GRCm38) C578S probably damaging Het
Dcp1b A G 6: 119,215,358 (GRCm38) K412E probably damaging Het
Dlg2 T A 7: 91,940,059 (GRCm38) I327N probably damaging Het
Ehf T A 2: 103,268,155 (GRCm38) probably null Het
Elavl4 T C 4: 110,206,612 (GRCm38) N264S probably benign Het
Enpp2 A T 15: 54,875,669 (GRCm38) I406N probably damaging Het
F10 A T 8: 13,055,383 (GRCm38) Y316F possibly damaging Het
Fam20a A G 11: 109,685,351 (GRCm38) I194T possibly damaging Het
Fcgbp T C 7: 28,089,647 (GRCm38) V546A probably benign Het
Fras1 A T 5: 96,673,698 (GRCm38) Q1438L probably null Het
Gm43638 T C 5: 87,460,592 (GRCm38) I463V probably benign Het
Gm597 T C 1: 28,777,056 (GRCm38) I632V probably benign Het
H2-T10 T C 17: 36,120,710 (GRCm38) D84G probably benign Het
Itpr1 T C 6: 108,399,361 (GRCm38) F1262L probably damaging Het
Lama1 A G 17: 67,745,051 (GRCm38) N335D probably benign Het
Lasp1 T C 11: 97,836,190 (GRCm38) V246A probably damaging Het
Lrrk2 A T 15: 91,683,142 (GRCm38) I135L probably benign Het
Malrd1 G A 2: 16,101,957 (GRCm38) probably null Het
Nbea A T 3: 56,031,536 (GRCm38) H710Q probably benign Het
Notch3 G A 17: 32,166,757 (GRCm38) R13C unknown Het
Ogfod1 A T 8: 94,055,671 (GRCm38) probably benign Het
Olfr1465 A G 19: 13,314,126 (GRCm38) L53P probably damaging Het
Olfr339 A G 2: 36,421,704 (GRCm38) Y102C probably benign Het
Olfr924 T C 9: 38,848,252 (GRCm38) I46T probably damaging Het
Pgm3 A G 9: 86,561,879 (GRCm38) V324A probably damaging Het
Ppfia2 A T 10: 106,858,207 (GRCm38) I681F probably damaging Het
Prss23 T C 7: 89,509,887 (GRCm38) K325E possibly damaging Het
Psmd7 T A 8: 107,586,617 (GRCm38) probably benign Het
Rfx2 T A 17: 56,808,317 (GRCm38) M1L possibly damaging Het
Rpa1 T C 11: 75,312,315 (GRCm38) Y418C probably damaging Het
Rps6kc1 C T 1: 190,773,678 (GRCm38) R1029H probably damaging Het
Sept10 A G 10: 59,166,600 (GRCm38) V391A probably benign Het
Skint6 A G 4: 113,236,440 (GRCm38) F169L probably benign Het
Slc44a4 C T 17: 34,921,698 (GRCm38) T289I probably benign Het
Srl T C 16: 4,497,682 (GRCm38) D32G probably damaging Het
Stxbp3-ps T A 19: 9,557,892 (GRCm38) noncoding transcript Het
Sult1b1 T C 5: 87,514,956 (GRCm38) D295G probably benign Het
Tmprss7 A G 16: 45,684,574 (GRCm38) V151A probably damaging Het
Trmo A G 4: 46,387,589 (GRCm38) L84P probably damaging Het
Vmn2r98 T A 17: 19,065,185 (GRCm38) I89N probably damaging Het
Zcwpw1 G A 5: 137,796,799 (GRCm38) A86T probably benign Het
Zkscan16 A G 4: 58,956,690 (GRCm38) H324R possibly damaging Het
Other mutations in Mctp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Mctp2 APN 7 72,185,815 (GRCm38) missense probably damaging 0.96
IGL01509:Mctp2 APN 7 72,259,269 (GRCm38) missense probably benign 0.01
IGL02074:Mctp2 APN 7 72,161,258 (GRCm38) missense probably damaging 0.99
IGL02185:Mctp2 APN 7 72,080,823 (GRCm38) missense probably benign 0.13
IGL02238:Mctp2 APN 7 72,090,205 (GRCm38) nonsense probably null
IGL02707:Mctp2 APN 7 72,259,341 (GRCm38) missense possibly damaging 0.95
IGL02820:Mctp2 APN 7 72,245,542 (GRCm38) missense probably damaging 0.99
IGL02869:Mctp2 APN 7 72,228,471 (GRCm38) critical splice donor site probably null
IGL03354:Mctp2 APN 7 72,161,244 (GRCm38) missense probably benign 0.00
IGL03397:Mctp2 APN 7 72,259,277 (GRCm38) missense probably damaging 0.98
IGL03407:Mctp2 APN 7 72,211,652 (GRCm38) missense probably benign 0.05
trifecta UTSW 7 72,259,331 (GRCm38) missense possibly damaging 0.63
triumvirate UTSW 7 72,211,690 (GRCm38) missense probably damaging 1.00
troika UTSW 7 72,185,820 (GRCm38) missense probably damaging 1.00
F5770:Mctp2 UTSW 7 72,121,751 (GRCm38) splice site probably benign
PIT4131001:Mctp2 UTSW 7 72,090,257 (GRCm38) missense probably damaging 1.00
R0013:Mctp2 UTSW 7 72,229,408 (GRCm38) missense probably benign 0.00
R0079:Mctp2 UTSW 7 72,214,116 (GRCm38) splice site probably benign
R0083:Mctp2 UTSW 7 72,228,516 (GRCm38) missense possibly damaging 0.94
R0173:Mctp2 UTSW 7 72,247,107 (GRCm38) critical splice donor site probably null
R0302:Mctp2 UTSW 7 72,090,264 (GRCm38) missense possibly damaging 0.94
R0533:Mctp2 UTSW 7 72,080,822 (GRCm38) missense probably benign 0.00
R0675:Mctp2 UTSW 7 72,083,170 (GRCm38) missense probably damaging 1.00
R1076:Mctp2 UTSW 7 72,185,867 (GRCm38) critical splice acceptor site probably null
R1222:Mctp2 UTSW 7 72,259,139 (GRCm38) missense probably benign
R1356:Mctp2 UTSW 7 72,164,723 (GRCm38) unclassified probably benign
R1628:Mctp2 UTSW 7 72,211,589 (GRCm38) splice site probably null
R1649:Mctp2 UTSW 7 72,161,258 (GRCm38) missense probably damaging 0.99
R1981:Mctp2 UTSW 7 72,164,698 (GRCm38) missense probably benign 0.01
R2256:Mctp2 UTSW 7 72,185,820 (GRCm38) missense probably damaging 1.00
R2257:Mctp2 UTSW 7 72,185,820 (GRCm38) missense probably damaging 1.00
R2327:Mctp2 UTSW 7 72,211,610 (GRCm38) missense probably damaging 0.99
R2407:Mctp2 UTSW 7 72,200,407 (GRCm38) missense probably benign 0.40
R2471:Mctp2 UTSW 7 72,161,161 (GRCm38) nonsense probably null
R3706:Mctp2 UTSW 7 72,214,111 (GRCm38) splice site probably benign
R4023:Mctp2 UTSW 7 72,090,239 (GRCm38) missense possibly damaging 0.88
R4025:Mctp2 UTSW 7 72,090,239 (GRCm38) missense possibly damaging 0.88
R4176:Mctp2 UTSW 7 72,259,337 (GRCm38) missense probably benign
R4272:Mctp2 UTSW 7 72,259,331 (GRCm38) missense possibly damaging 0.63
R4498:Mctp2 UTSW 7 72,183,851 (GRCm38) missense probably damaging 1.00
R4654:Mctp2 UTSW 7 72,090,194 (GRCm38) missense probably damaging 1.00
R4815:Mctp2 UTSW 7 72,259,349 (GRCm38) missense possibly damaging 0.89
R4946:Mctp2 UTSW 7 72,259,269 (GRCm38) missense probably benign 0.00
R5389:Mctp2 UTSW 7 72,214,087 (GRCm38) missense possibly damaging 0.50
R5682:Mctp2 UTSW 7 72,245,459 (GRCm38) critical splice donor site probably null
R5878:Mctp2 UTSW 7 72,214,108 (GRCm38) missense probably benign 0.01
R5918:Mctp2 UTSW 7 72,228,540 (GRCm38) missense probably damaging 1.00
R5956:Mctp2 UTSW 7 72,259,175 (GRCm38) missense probably benign
R5964:Mctp2 UTSW 7 72,103,177 (GRCm38) missense probably damaging 0.97
R5978:Mctp2 UTSW 7 72,090,188 (GRCm38) missense probably damaging 1.00
R6054:Mctp2 UTSW 7 72,259,103 (GRCm38) missense probably benign
R6475:Mctp2 UTSW 7 72,200,344 (GRCm38) critical splice donor site probably null
R6849:Mctp2 UTSW 7 72,211,718 (GRCm38) missense probably damaging 1.00
R6963:Mctp2 UTSW 7 72,228,056 (GRCm38) missense probably damaging 1.00
R7366:Mctp2 UTSW 7 72,259,214 (GRCm38) missense probably benign 0.00
R7468:Mctp2 UTSW 7 72,211,690 (GRCm38) missense probably damaging 1.00
R7746:Mctp2 UTSW 7 72,185,796 (GRCm38) missense probably benign
R7765:Mctp2 UTSW 7 72,090,331 (GRCm38) splice site probably null
R7822:Mctp2 UTSW 7 72,127,187 (GRCm38) missense possibly damaging 0.90
R7984:Mctp2 UTSW 7 72,103,189 (GRCm38) missense possibly damaging 0.94
R8416:Mctp2 UTSW 7 72,202,462 (GRCm38) missense probably benign 0.12
R8678:Mctp2 UTSW 7 72,103,207 (GRCm38) missense probably damaging 1.00
R8819:Mctp2 UTSW 7 72,229,333 (GRCm38) missense probably benign 0.20
R8820:Mctp2 UTSW 7 72,229,333 (GRCm38) missense probably benign 0.20
R8835:Mctp2 UTSW 7 72,202,413 (GRCm38) missense probably benign 0.19
R8897:Mctp2 UTSW 7 72,259,563 (GRCm38) start codon destroyed probably benign 0.27
R8898:Mctp2 UTSW 7 72,103,156 (GRCm38) missense probably damaging 0.99
R9124:Mctp2 UTSW 7 72,259,430 (GRCm38) missense probably damaging 1.00
X0066:Mctp2 UTSW 7 72,259,280 (GRCm38) nonsense probably null
Z1191:Mctp2 UTSW 7 72,185,820 (GRCm38) missense probably damaging 1.00
Posted On 2013-10-07