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: 0.156) question?
Stock # IGL01296
Quality Score
Status
Chromosome 7
Chromosomal Location 71727578-71956356 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71878274 bp (GRCm39)
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: 66,880,864 (GRCm39) S301P probably damaging Het
Adam34 A G 8: 44,104,178 (GRCm39) V489A possibly damaging Het
Adcy8 G A 15: 64,655,628 (GRCm39) T617I probably damaging Het
Aggf1 T C 13: 95,490,479 (GRCm39) D605G probably damaging Het
Atp10a T A 7: 58,463,373 (GRCm39) F969I probably benign Het
Becn1 A T 11: 101,182,277 (GRCm39) N97K probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Crtac1 A T 19: 42,272,652 (GRCm39) C578S probably damaging Het
Dcp1b A G 6: 119,192,319 (GRCm39) K412E probably damaging Het
Dlg2 T A 7: 91,589,267 (GRCm39) I327N probably damaging Het
Ehf T A 2: 103,098,500 (GRCm39) probably null Het
Elavl4 T C 4: 110,063,809 (GRCm39) N264S probably benign Het
Enpp2 A T 15: 54,739,065 (GRCm39) I406N probably damaging Het
F10 A T 8: 13,105,383 (GRCm39) Y316F possibly damaging Het
Fam20a A G 11: 109,576,177 (GRCm39) I194T possibly damaging Het
Fcgbp T C 7: 27,789,072 (GRCm39) V546A probably benign Het
Fras1 A T 5: 96,821,557 (GRCm39) Q1438L probably null Het
Gm43638 T C 5: 87,608,451 (GRCm39) I463V probably benign Het
H2-T10 T C 17: 36,431,602 (GRCm39) D84G probably benign Het
Itpr1 T C 6: 108,376,322 (GRCm39) F1262L probably damaging Het
Lama1 A G 17: 68,052,046 (GRCm39) N335D probably benign Het
Lasp1 T C 11: 97,727,016 (GRCm39) V246A probably damaging Het
Lrrk2 A T 15: 91,567,345 (GRCm39) I135L probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Nbea A T 3: 55,938,957 (GRCm39) H710Q probably benign Het
Notch3 G A 17: 32,385,731 (GRCm39) R13C unknown Het
Ogfod1 A T 8: 94,782,299 (GRCm39) probably benign Het
Or1j11 A G 2: 36,311,716 (GRCm39) Y102C probably benign Het
Or5b111 A G 19: 13,291,490 (GRCm39) L53P probably damaging Het
Or8d2 T C 9: 38,759,548 (GRCm39) I46T probably damaging Het
Pgm3 A G 9: 86,443,932 (GRCm39) V324A probably damaging Het
Ppfia2 A T 10: 106,694,068 (GRCm39) I681F probably damaging Het
Prss23 T C 7: 89,159,095 (GRCm39) K325E possibly damaging Het
Psmd7 T A 8: 108,313,249 (GRCm39) probably benign Het
Rfx2 T A 17: 57,115,317 (GRCm39) M1L possibly damaging Het
Rpa1 T C 11: 75,203,141 (GRCm39) Y418C probably damaging Het
Rps6kc1 C T 1: 190,505,875 (GRCm39) R1029H probably damaging Het
Septin10 A G 10: 59,002,422 (GRCm39) V391A probably benign Het
Skint6 A G 4: 113,093,637 (GRCm39) F169L probably benign Het
Slc44a4 C T 17: 35,140,674 (GRCm39) T289I probably benign Het
Spata31e5 T C 1: 28,816,137 (GRCm39) I632V probably benign Het
Srl T C 16: 4,315,546 (GRCm39) D32G probably damaging Het
Stxbp3-ps T A 19: 9,535,256 (GRCm39) noncoding transcript Het
Sult1b1 T C 5: 87,662,815 (GRCm39) D295G probably benign Het
Tmprss7 A G 16: 45,504,937 (GRCm39) V151A probably damaging Het
Trmo A G 4: 46,387,589 (GRCm39) L84P probably damaging Het
Vmn2r98 T A 17: 19,285,447 (GRCm39) I89N probably damaging Het
Zcwpw1 G A 5: 137,795,061 (GRCm39) A86T probably benign Het
Zkscan16 A G 4: 58,956,690 (GRCm39) H324R possibly damaging Het
Other mutations in Mctp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Mctp2 APN 7 71,835,563 (GRCm39) missense probably damaging 0.96
IGL01509:Mctp2 APN 7 71,909,017 (GRCm39) missense probably benign 0.01
IGL02074:Mctp2 APN 7 71,811,006 (GRCm39) missense probably damaging 0.99
IGL02185:Mctp2 APN 7 71,730,571 (GRCm39) missense probably benign 0.13
IGL02238:Mctp2 APN 7 71,739,953 (GRCm39) nonsense probably null
IGL02707:Mctp2 APN 7 71,909,089 (GRCm39) missense possibly damaging 0.95
IGL02820:Mctp2 APN 7 71,895,290 (GRCm39) missense probably damaging 0.99
IGL02869:Mctp2 APN 7 71,878,219 (GRCm39) critical splice donor site probably null
IGL03354:Mctp2 APN 7 71,810,992 (GRCm39) missense probably benign 0.00
IGL03397:Mctp2 APN 7 71,909,025 (GRCm39) missense probably damaging 0.98
IGL03407:Mctp2 APN 7 71,861,400 (GRCm39) missense probably benign 0.05
trifecta UTSW 7 71,909,079 (GRCm39) missense possibly damaging 0.63
triumvirate UTSW 7 71,861,438 (GRCm39) missense probably damaging 1.00
troika UTSW 7 71,835,568 (GRCm39) missense probably damaging 1.00
F5770:Mctp2 UTSW 7 71,771,499 (GRCm39) splice site probably benign
PIT4131001:Mctp2 UTSW 7 71,740,005 (GRCm39) missense probably damaging 1.00
R0013:Mctp2 UTSW 7 71,879,156 (GRCm39) missense probably benign 0.00
R0079:Mctp2 UTSW 7 71,863,864 (GRCm39) splice site probably benign
R0083:Mctp2 UTSW 7 71,878,264 (GRCm39) missense possibly damaging 0.94
R0173:Mctp2 UTSW 7 71,896,855 (GRCm39) critical splice donor site probably null
R0302:Mctp2 UTSW 7 71,740,012 (GRCm39) missense possibly damaging 0.94
R0533:Mctp2 UTSW 7 71,730,570 (GRCm39) missense probably benign 0.00
R0675:Mctp2 UTSW 7 71,732,918 (GRCm39) missense probably damaging 1.00
R1076:Mctp2 UTSW 7 71,835,615 (GRCm39) critical splice acceptor site probably null
R1222:Mctp2 UTSW 7 71,908,887 (GRCm39) missense probably benign
R1356:Mctp2 UTSW 7 71,814,471 (GRCm39) unclassified probably benign
R1628:Mctp2 UTSW 7 71,861,337 (GRCm39) splice site probably null
R1649:Mctp2 UTSW 7 71,811,006 (GRCm39) missense probably damaging 0.99
R1981:Mctp2 UTSW 7 71,814,446 (GRCm39) missense probably benign 0.01
R2256:Mctp2 UTSW 7 71,835,568 (GRCm39) missense probably damaging 1.00
R2257:Mctp2 UTSW 7 71,835,568 (GRCm39) missense probably damaging 1.00
R2327:Mctp2 UTSW 7 71,861,358 (GRCm39) missense probably damaging 0.99
R2407:Mctp2 UTSW 7 71,850,155 (GRCm39) missense probably benign 0.40
R2471:Mctp2 UTSW 7 71,810,909 (GRCm39) nonsense probably null
R3706:Mctp2 UTSW 7 71,863,859 (GRCm39) splice site probably benign
R4023:Mctp2 UTSW 7 71,739,987 (GRCm39) missense possibly damaging 0.88
R4025:Mctp2 UTSW 7 71,739,987 (GRCm39) missense possibly damaging 0.88
R4176:Mctp2 UTSW 7 71,909,085 (GRCm39) missense probably benign
R4272:Mctp2 UTSW 7 71,909,079 (GRCm39) missense possibly damaging 0.63
R4498:Mctp2 UTSW 7 71,833,599 (GRCm39) missense probably damaging 1.00
R4654:Mctp2 UTSW 7 71,739,942 (GRCm39) missense probably damaging 1.00
R4815:Mctp2 UTSW 7 71,909,097 (GRCm39) missense possibly damaging 0.89
R4946:Mctp2 UTSW 7 71,909,017 (GRCm39) missense probably benign 0.00
R5389:Mctp2 UTSW 7 71,863,835 (GRCm39) missense possibly damaging 0.50
R5682:Mctp2 UTSW 7 71,895,207 (GRCm39) critical splice donor site probably null
R5878:Mctp2 UTSW 7 71,863,856 (GRCm39) missense probably benign 0.01
R5918:Mctp2 UTSW 7 71,878,288 (GRCm39) missense probably damaging 1.00
R5956:Mctp2 UTSW 7 71,908,923 (GRCm39) missense probably benign
R5964:Mctp2 UTSW 7 71,752,925 (GRCm39) missense probably damaging 0.97
R5978:Mctp2 UTSW 7 71,739,936 (GRCm39) missense probably damaging 1.00
R6054:Mctp2 UTSW 7 71,908,851 (GRCm39) missense probably benign
R6475:Mctp2 UTSW 7 71,850,092 (GRCm39) critical splice donor site probably null
R6849:Mctp2 UTSW 7 71,861,466 (GRCm39) missense probably damaging 1.00
R6963:Mctp2 UTSW 7 71,877,804 (GRCm39) missense probably damaging 1.00
R7366:Mctp2 UTSW 7 71,908,962 (GRCm39) missense probably benign 0.00
R7468:Mctp2 UTSW 7 71,861,438 (GRCm39) missense probably damaging 1.00
R7746:Mctp2 UTSW 7 71,835,544 (GRCm39) missense probably benign
R7765:Mctp2 UTSW 7 71,740,079 (GRCm39) splice site probably null
R7822:Mctp2 UTSW 7 71,776,935 (GRCm39) missense possibly damaging 0.90
R7984:Mctp2 UTSW 7 71,752,937 (GRCm39) missense possibly damaging 0.94
R8416:Mctp2 UTSW 7 71,852,210 (GRCm39) missense probably benign 0.12
R8678:Mctp2 UTSW 7 71,752,955 (GRCm39) missense probably damaging 1.00
R8819:Mctp2 UTSW 7 71,879,081 (GRCm39) missense probably benign 0.20
R8820:Mctp2 UTSW 7 71,879,081 (GRCm39) missense probably benign 0.20
R8835:Mctp2 UTSW 7 71,852,161 (GRCm39) missense probably benign 0.19
R8897:Mctp2 UTSW 7 71,909,311 (GRCm39) start codon destroyed probably benign 0.27
R8898:Mctp2 UTSW 7 71,752,904 (GRCm39) missense probably damaging 0.99
R9124:Mctp2 UTSW 7 71,909,178 (GRCm39) missense probably damaging 1.00
X0066:Mctp2 UTSW 7 71,909,028 (GRCm39) nonsense probably null
Z1191:Mctp2 UTSW 7 71,835,568 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07