Incidental Mutation 'R4815:Mctp2'
ID 369718
Institutional Source Beutler Lab
Gene Symbol Mctp2
Ensembl Gene ENSMUSG00000032776
Gene Name multiple C2 domains, transmembrane 2
Synonyms LOC244049
MMRRC Submission 042433-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R4815 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 71727578-71956356 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 71909097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 72 (Q72P)
Ref Sequence ENSEMBL: ENSMUSP00000078302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079323]
AlphaFold Q5RJH2
Predicted Effect possibly damaging
Transcript: ENSMUST00000079323
AA Change: Q72P

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: Q72P

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: ENSMUST00000206755
Meta Mutation Damage Score 0.0652 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 96% (76/79)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A T 18: 65,483,026 (GRCm39) N327K probably damaging Het
Ank2 T C 3: 126,730,410 (GRCm39) T675A probably benign Het
Arap3 T C 18: 38,106,296 (GRCm39) T1516A probably benign Het
Asb18 A T 1: 89,942,147 (GRCm39) N51K probably damaging Het
C7 A G 15: 5,088,887 (GRCm39) V18A probably benign Het
Caap1 A G 4: 94,389,497 (GRCm39) V279A probably benign Het
Cacnb2 A G 2: 14,879,591 (GRCm39) D21G probably damaging Het
Ccdc171 T C 4: 83,713,458 (GRCm39) S1166P probably damaging Het
Chgb A T 2: 132,635,219 (GRCm39) H387L probably benign Het
Chp2 G A 7: 121,820,123 (GRCm39) R91Q probably damaging Het
Chuk C A 19: 44,065,686 (GRCm39) G703* probably null Het
Clmn T C 12: 104,751,825 (GRCm39) D210G probably damaging Het
Cyp4f18 A G 8: 72,749,839 (GRCm39) V270A possibly damaging Het
Dgcr2 A G 16: 17,676,483 (GRCm39) probably benign Het
Diaph1 A T 18: 38,028,256 (GRCm39) V411D unknown Het
Dkk2 C T 3: 131,879,546 (GRCm39) A75V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dnase2a T C 8: 85,636,506 (GRCm39) V187A probably benign Het
Dusp19 A G 2: 80,461,289 (GRCm39) M193V probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Golgb1 A T 16: 36,733,477 (GRCm39) Q908L possibly damaging Het
Hsp90aa1 T C 12: 110,661,660 (GRCm39) M119V possibly damaging Het
Ice2 C T 9: 69,314,400 (GRCm39) R50C probably damaging Het
Ifi208 A T 1: 173,510,403 (GRCm39) E186V probably damaging Het
Ift122 A G 6: 115,858,517 (GRCm39) K166E possibly damaging Het
Jcad T A 18: 4,675,223 (GRCm39) L995Q possibly damaging Het
Kcnc4 A T 3: 107,365,582 (GRCm39) C209S probably benign Het
Kmt2a G A 9: 44,732,553 (GRCm39) probably benign Het
Lrriq1 T A 10: 102,980,739 (GRCm39) L1465F probably benign Het
Map3k7 C A 4: 31,988,592 (GRCm39) T247N probably damaging Het
Miga1 T C 3: 151,996,443 (GRCm39) Y335C probably benign Het
Ms4a14 A T 19: 11,291,641 (GRCm39) N19K probably benign Het
Mylk G A 16: 34,715,295 (GRCm39) R541Q probably damaging Het
Nav3 T C 10: 109,659,413 (GRCm39) T735A probably benign Het
Nlgn1 T A 3: 25,490,194 (GRCm39) H511L probably damaging Het
Nlrp4a A T 7: 26,150,233 (GRCm39) E613D probably benign Het
Nuf2 A G 1: 169,338,037 (GRCm39) S247P probably damaging Het
Ocstamp A G 2: 165,240,102 (GRCm39) V28A probably benign Het
Odf2 A C 2: 29,792,252 (GRCm39) E155D possibly damaging Het
Odr4 A G 1: 150,250,597 (GRCm39) C294R probably damaging Het
Or2ag13 G A 7: 106,473,444 (GRCm39) P3S probably benign Het
Or8s16 T C 15: 98,210,561 (GRCm39) N290S probably damaging Het
Otud7a T C 7: 63,379,658 (GRCm39) probably null Het
Pacsin2 A T 15: 83,269,260 (GRCm39) D11E probably damaging Het
Pcdhga5 G A 18: 37,828,247 (GRCm39) V232I probably damaging Het
Plcb3 A G 19: 6,940,352 (GRCm39) I439T possibly damaging Het
Rag1 A G 2: 101,473,861 (GRCm39) V427A probably damaging Het
Ranbp10 A T 8: 106,552,757 (GRCm39) C128* probably null Het
Rbm8a2 A G 1: 175,806,024 (GRCm39) V151A probably damaging Het
S100pbp A G 4: 129,044,726 (GRCm39) probably benign Het
Serpinb5 G T 1: 106,800,069 (GRCm39) L86F probably damaging Het
Sgo2b T C 8: 64,384,448 (GRCm39) I183V probably benign Het
Slc25a25 A T 2: 32,310,422 (GRCm39) D112E probably damaging Het
Slc30a5 C T 13: 100,950,218 (GRCm39) V103I probably damaging Het
Slc9a2 A T 1: 40,758,009 (GRCm39) I183F probably benign Het
Srrm4 T A 5: 116,613,249 (GRCm39) K141N unknown Het
Tbc1d20 T C 2: 152,153,909 (GRCm39) probably benign Het
Tdpoz6 C T 3: 93,599,593 (GRCm39) V259M probably benign Het
Tep1 A G 14: 51,078,759 (GRCm39) L1498P probably damaging Het
Tgfbi T C 13: 56,779,933 (GRCm39) M494T probably benign Het
Tox A G 4: 6,823,033 (GRCm39) S95P probably benign Het
Tpr G A 1: 150,274,359 (GRCm39) V163I probably benign Het
Trpm7 A G 2: 126,700,412 (GRCm39) S2P probably damaging Het
Ttn A G 2: 76,546,429 (GRCm39) M32328T probably damaging Het
Vps39 A T 2: 120,169,040 (GRCm39) N289K probably benign Het
Xdh C T 17: 74,213,210 (GRCm39) A847T probably damaging Het
Xndc1 G A 7: 101,722,523 (GRCm39) G63R probably null Het
Ythdc2 A G 18: 45,018,307 (GRCm39) S1330G probably benign Het
Zc3h14 C G 12: 98,719,107 (GRCm39) D157E probably damaging Het
Zc3h7b A T 15: 81,677,864 (GRCm39) K949N probably damaging Het
Zp3r A T 1: 130,526,649 (GRCm39) Y185N probably damaging Het
Other mutations in Mctp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Mctp2 APN 7 71,835,563 (GRCm39) missense probably damaging 0.96
IGL01296:Mctp2 APN 7 71,878,274 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- TTCCAAGGGAAGGTTTGTGC -3'
(R):5'- GCGAACCAGACCTTTGTTAATC -3'

Sequencing Primer
(F):5'- TTTGTGCAGATCCAGGGCAC -3'
(R):5'- CAGACCTTTGTTAATCAACCTAAGC -3'
Posted On 2016-02-04