Incidental Mutation 'R8819:Mctp2'
ID 672928
Institutional Source Beutler Lab
Gene Symbol Mctp2
Ensembl Gene ENSMUSG00000032776
Gene Name multiple C2 domains, transmembrane 2
Synonyms LOC244049
MMRRC Submission 068652-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R8819 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 71727578-71956356 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 71879081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 259 (V259L)
Ref Sequence ENSEMBL: ENSMUSP00000078302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079323]
AlphaFold Q5RJH2
Predicted Effect probably benign
Transcript: ENSMUST00000079323
AA Change: V259L

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000078302
Gene: ENSMUSG00000032776
AA Change: V259L

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
Meta Mutation Damage Score 0.1550 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,547,576 (GRCm39) L266P probably damaging Het
Als2cl T C 9: 110,714,855 (GRCm39) F125L probably benign Het
Arhgap33 T C 7: 30,228,165 (GRCm39) I406V probably benign Het
Bag5 T C 12: 111,677,709 (GRCm39) N38S probably benign Het
Clk2 T A 3: 89,082,730 (GRCm39) M392K probably damaging Het
Cngb1 C T 8: 95,980,037 (GRCm39) probably null Het
Cps1 T A 1: 67,267,439 (GRCm39) N1402K possibly damaging Het
Cracd CTGAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAG C 5: 77,004,793 (GRCm39) probably benign Het
Cyp2u1 T C 3: 131,092,016 (GRCm39) H168R probably damaging Het
Dapl1 T C 2: 59,335,056 (GRCm39) L70P probably damaging Het
Ddr2 T A 1: 169,805,483 (GRCm39) K836* probably null Het
Dnmbp C T 19: 43,889,854 (GRCm39) V638M probably benign Het
Dsel A G 1: 111,787,994 (GRCm39) L847P probably benign Het
Eef1b2 T C 1: 63,217,268 (GRCm39) probably benign Het
Eif1ad8 C T 12: 87,563,910 (GRCm39) R82* probably null Het
Fbll1 T C 11: 35,688,802 (GRCm39) K154E probably benign Het
Fbxw17 A T 13: 50,587,351 (GRCm39) K437M possibly damaging Het
Fktn T C 4: 53,735,001 (GRCm39) V174A possibly damaging Het
Frem1 C A 4: 82,821,754 (GRCm39) S2118I probably damaging Het
Gabrb3 T C 7: 57,442,329 (GRCm39) S212P probably damaging Het
Gimap9 A G 6: 48,654,821 (GRCm39) D136G probably benign Het
Hps1 T C 19: 42,759,648 (GRCm39) I55V probably benign Het
Huwe1 A G X: 150,669,993 (GRCm39) K1482R probably benign Het
Ift46 C T 9: 44,701,819 (GRCm39) T283I probably damaging Het
Ldb2 G A 5: 44,956,757 (GRCm39) Q27* probably null Het
Lmcd1 T A 6: 112,306,770 (GRCm39) I314N probably damaging Het
Lypd9 T G 11: 58,337,129 (GRCm39) S115R probably damaging Het
Midn T G 10: 79,990,234 (GRCm39) S302A probably damaging Het
Ncor2 A G 5: 125,106,291 (GRCm39) V797A Het
Npm2 A G 14: 70,885,768 (GRCm39) S146P probably damaging Het
Npr1 G A 3: 90,372,201 (GRCm39) R204C probably damaging Het
Or2w2 G A 13: 21,757,999 (GRCm39) S209L probably benign Het
Or52n3 T A 7: 104,530,862 (GRCm39) V316D possibly damaging Het
Or6e1 C T 14: 54,520,070 (GRCm39) G94D probably benign Het
Paip2b A C 6: 83,791,738 (GRCm39) M48R probably damaging Het
Pcsk2 T A 2: 143,642,990 (GRCm39) H422Q probably damaging Het
Pdzph1 G C 17: 59,187,715 (GRCm39) Y1168* probably null Het
Peli2 G A 14: 48,490,130 (GRCm39) E201K possibly damaging Het
Prelp T C 1: 133,842,878 (GRCm39) N89S probably damaging Het
Rapgef3 T C 15: 97,646,538 (GRCm39) N799S probably benign Het
Rel C T 11: 23,695,626 (GRCm39) R219H probably damaging Het
Relch T A 1: 105,654,179 (GRCm39) F873L possibly damaging Het
Rimbp3 T C 16: 17,028,771 (GRCm39) S732P probably benign Het
Rock1 A G 18: 10,070,626 (GRCm39) F1196S probably damaging Het
Ryr3 A G 2: 112,690,069 (GRCm39) V1180A probably benign Het
Ryr3 G A 2: 112,466,137 (GRCm39) R4795W probably damaging Het
Scn11a T C 9: 119,645,586 (GRCm39) I123V probably benign Het
Sema4b G C 7: 79,870,248 (GRCm39) E475D probably damaging Het
Serinc2 C A 4: 130,149,172 (GRCm39) M343I probably damaging Het
Serinc5 G T 13: 92,844,544 (GRCm39) V429F probably benign Het
Tnfsf10 G A 3: 27,389,451 (GRCm39) V171M probably benign Het
Zfp27 T C 7: 29,594,013 (GRCm39) K651E probably benign Het
Zfp438 A G 18: 5,213,383 (GRCm39) I525T possibly 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
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
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'- GTACACGGTGACTTTGCAGC -3'
(R):5'- GGAGAATCTTGACCTGATAGAGATG -3'

Sequencing Primer
(F):5'- CCGATTTGAGGGAAACATAGTCTC -3'
(R):5'- ACATGCATTTTAAAATTCCGTCTTG -3'
Posted On 2021-04-30