Incidental Mutation 'R5800:Mctp1'
ID 447364
Institutional Source Beutler Lab
Gene Symbol Mctp1
Ensembl Gene ENSMUSG00000021596
Gene Name multiple C2 domains, transmembrane 1
Synonyms 2810465F10Rik
MMRRC Submission 043389-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5800 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 76532259-77179929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76836678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 82 (N82D)
Ref Sequence ENSEMBL: ENSMUSP00000105218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109583] [ENSMUST00000109589] [ENSMUST00000125209] [ENSMUST00000126960]
AlphaFold E9PV86
Predicted Effect probably benign
Transcript: ENSMUST00000109583
AA Change: N45D

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: N45D

DomainStartEndE-ValueType
C2 3 100 1.15e-15 SMART
C2 166 263 1.35e-21 SMART
C2 322 418 4.76e-22 SMART
transmembrane domain 513 535 N/A INTRINSIC
Pfam:PRT_C 542 672 3.3e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109589
AA Change: N82D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105218
Gene: ENSMUSG00000021596
AA Change: N82D

DomainStartEndE-ValueType
C2 40 137 1.15e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125209
AA Change: N302D

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: N302D

DomainStartEndE-ValueType
low complexity region 30 44 N/A INTRINSIC
low complexity region 49 63 N/A INTRINSIC
low complexity region 134 174 N/A INTRINSIC
low complexity region 211 228 N/A INTRINSIC
C2 260 357 1.15e-15 SMART
C2 423 520 1.35e-21 SMART
C2 579 675 4.76e-22 SMART
transmembrane domain 770 792 N/A INTRINSIC
Pfam:PRT_C 800 929 2.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126960
AA Change: N82D

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120673
Gene: ENSMUSG00000021596
AA Change: N82D

DomainStartEndE-ValueType
C2 40 137 1.15e-15 SMART
C2 190 286 8.43e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178439
Meta Mutation Damage Score 0.3239 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,360,591 (GRCm39) V540D possibly damaging Het
Adamts8 A T 9: 30,865,778 (GRCm39) D442V probably damaging Het
B3galt9 T C 2: 34,728,654 (GRCm39) F151S possibly damaging Het
Bltp1 A G 3: 37,106,592 (GRCm39) D4974G probably damaging Het
Casp4 G A 9: 5,308,915 (GRCm39) probably null Het
Cfap45 T A 1: 172,366,167 (GRCm39) V30E probably damaging Het
Col6a4 A G 9: 105,957,474 (GRCm39) F117L probably damaging Het
Dnah7c A T 1: 46,686,175 (GRCm39) T1810S probably benign Het
Drosha C T 15: 12,865,153 (GRCm39) T627M probably damaging Het
Drosha C A 15: 12,902,733 (GRCm39) A1001D probably damaging Het
Efhc1 G A 1: 21,049,005 (GRCm39) V473I probably benign Het
Ephx2 T C 14: 66,344,751 (GRCm39) K191R probably benign Het
Ero1b T A 13: 12,617,190 (GRCm39) probably null Het
Esyt2 A T 12: 116,333,808 (GRCm39) D837V possibly damaging Het
Fip1l1 T A 5: 74,706,742 (GRCm39) D126E possibly damaging Het
Fyttd1 C T 16: 32,711,658 (GRCm39) R86C probably damaging Het
Gm12888 T A 4: 121,176,625 (GRCm39) T59S probably damaging Het
Gm7353 A T 7: 3,160,168 (GRCm39) noncoding transcript Het
Gpr153 C T 4: 152,364,534 (GRCm39) Q197* probably null Het
Grep1 G A 17: 23,936,966 (GRCm39) P72S probably damaging Het
H2-T23 G T 17: 36,342,496 (GRCm39) probably benign Het
Ighv1-16 T A 12: 114,629,531 (GRCm39) R85S probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kdm1a T A 4: 136,300,381 (GRCm39) probably null Het
Klk1b27 A T 7: 43,705,088 (GRCm39) Q85L probably benign Het
Krt39 A T 11: 99,411,971 (GRCm39) D38E probably benign Het
L1td1 T C 4: 98,621,999 (GRCm39) L187P possibly damaging Het
Lrrc8b C T 5: 105,629,208 (GRCm39) S518L probably benign Het
Lyg1 C T 1: 37,986,034 (GRCm39) D176N probably damaging Het
Muc6 T C 7: 141,226,690 (GRCm39) probably benign Het
Nynrin T C 14: 56,108,088 (GRCm39) L1065P probably damaging Het
Or5b118 T C 19: 13,449,260 (GRCm39) S309P probably benign Het
Pcdh7 T A 5: 57,879,567 (GRCm39) S1041T probably damaging Het
Pkd1l1 T A 11: 8,811,302 (GRCm39) M1518L probably benign Het
Prl8a6 G T 13: 27,619,453 (GRCm39) Q90K probably benign Het
Ptcd1 T A 5: 145,096,475 (GRCm39) D206V probably damaging Het
Rap1gap C A 4: 137,447,688 (GRCm39) D478E probably benign Het
Scn5a A G 9: 119,330,732 (GRCm39) Y1269H probably damaging Het
Sdc2 A T 15: 33,028,290 (GRCm39) H136L probably benign Het
Senp6 A T 9: 80,033,715 (GRCm39) I120F probably damaging Het
Shisa5 G A 9: 108,885,162 (GRCm39) probably null Het
Slc19a1 A G 10: 76,878,103 (GRCm39) S213G probably null Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Tbc1d20 T A 2: 152,150,245 (GRCm39) probably null Het
Tll2 T C 19: 41,093,373 (GRCm39) H481R probably benign Het
Tmc7 A G 7: 118,138,663 (GRCm39) V692A probably benign Het
Tmem234 T C 4: 129,500,924 (GRCm39) probably null Het
Vmn1r237 C G 17: 21,535,069 (GRCm39) T264S probably benign Het
Vmn2r98 A T 17: 19,286,260 (GRCm39) T253S probably benign Het
Zfyve27 T C 19: 42,171,102 (GRCm39) Y191H probably damaging Het
Other mutations in Mctp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Mctp1 APN 13 77,168,917 (GRCm39) missense probably damaging 0.98
IGL01355:Mctp1 APN 13 76,533,074 (GRCm39) missense probably benign
IGL02192:Mctp1 APN 13 76,879,887 (GRCm39) intron probably benign
IGL02342:Mctp1 APN 13 77,172,976 (GRCm39) missense probably damaging 1.00
IGL02706:Mctp1 APN 13 76,971,188 (GRCm39) missense probably damaging 1.00
IGL02950:Mctp1 APN 13 77,172,929 (GRCm39) missense probably damaging 1.00
IGL03064:Mctp1 APN 13 76,949,632 (GRCm39) nonsense probably null
IGL03230:Mctp1 APN 13 76,972,976 (GRCm39) missense possibly damaging 0.49
R0138:Mctp1 UTSW 13 76,975,831 (GRCm39) missense probably damaging 1.00
R0355:Mctp1 UTSW 13 76,972,982 (GRCm39) missense probably damaging 1.00
R0383:Mctp1 UTSW 13 76,949,663 (GRCm39) missense probably damaging 1.00
R0426:Mctp1 UTSW 13 77,168,940 (GRCm39) missense probably benign 0.01
R0462:Mctp1 UTSW 13 76,949,520 (GRCm39) missense probably damaging 1.00
R0483:Mctp1 UTSW 13 76,975,846 (GRCm39) missense probably damaging 1.00
R0685:Mctp1 UTSW 13 76,973,918 (GRCm39) critical splice donor site probably null
R1468:Mctp1 UTSW 13 76,973,392 (GRCm39) missense probably benign 0.25
R1468:Mctp1 UTSW 13 76,973,392 (GRCm39) missense probably benign 0.25
R1854:Mctp1 UTSW 13 76,973,860 (GRCm39) missense probably damaging 0.96
R1864:Mctp1 UTSW 13 76,533,267 (GRCm39) missense possibly damaging 0.63
R1865:Mctp1 UTSW 13 76,533,267 (GRCm39) missense possibly damaging 0.63
R1920:Mctp1 UTSW 13 76,532,729 (GRCm39) missense possibly damaging 0.67
R2071:Mctp1 UTSW 13 76,907,843 (GRCm39) missense probably damaging 1.00
R2127:Mctp1 UTSW 13 76,972,941 (GRCm39) missense probably damaging 1.00
R2128:Mctp1 UTSW 13 76,972,941 (GRCm39) missense probably damaging 1.00
R2129:Mctp1 UTSW 13 76,972,941 (GRCm39) missense probably damaging 1.00
R3709:Mctp1 UTSW 13 76,972,999 (GRCm39) splice site probably null
R4463:Mctp1 UTSW 13 76,860,206 (GRCm39) missense probably damaging 1.00
R4510:Mctp1 UTSW 13 76,973,391 (GRCm39) missense probably benign 0.20
R4511:Mctp1 UTSW 13 76,973,391 (GRCm39) missense probably benign 0.20
R4951:Mctp1 UTSW 13 76,975,894 (GRCm39) missense probably damaging 0.96
R5004:Mctp1 UTSW 13 76,789,923 (GRCm39) missense possibly damaging 0.79
R5307:Mctp1 UTSW 13 76,860,198 (GRCm39) critical splice acceptor site probably null
R5339:Mctp1 UTSW 13 76,973,825 (GRCm39) intron probably benign
R5639:Mctp1 UTSW 13 77,172,902 (GRCm39) splice site silent
R5769:Mctp1 UTSW 13 76,907,927 (GRCm39) missense probably damaging 1.00
R5913:Mctp1 UTSW 13 76,907,944 (GRCm39) splice site probably null
R5981:Mctp1 UTSW 13 76,905,229 (GRCm39) missense probably damaging 1.00
R6024:Mctp1 UTSW 13 76,533,280 (GRCm39) missense probably damaging 0.98
R6192:Mctp1 UTSW 13 76,971,082 (GRCm39) splice site probably null
R6331:Mctp1 UTSW 13 77,168,982 (GRCm39) critical splice donor site probably null
R6468:Mctp1 UTSW 13 76,879,930 (GRCm39) critical splice donor site probably null
R6484:Mctp1 UTSW 13 76,836,744 (GRCm39) missense probably benign 0.02
R6656:Mctp1 UTSW 13 77,178,055 (GRCm39) missense probably damaging 0.99
R7026:Mctp1 UTSW 13 76,954,378 (GRCm39) missense probably benign 0.35
R7482:Mctp1 UTSW 13 76,889,579 (GRCm39) splice site probably null
R7890:Mctp1 UTSW 13 76,975,876 (GRCm39) missense probably damaging 1.00
R7942:Mctp1 UTSW 13 76,789,829 (GRCm39) critical splice acceptor site probably null
R8029:Mctp1 UTSW 13 77,178,005 (GRCm39) missense probably damaging 1.00
R8034:Mctp1 UTSW 13 77,039,670 (GRCm39) missense probably damaging 0.99
R8085:Mctp1 UTSW 13 76,972,972 (GRCm39) missense probably benign 0.00
R8258:Mctp1 UTSW 13 76,949,666 (GRCm39) critical splice donor site probably null
R8259:Mctp1 UTSW 13 76,949,666 (GRCm39) critical splice donor site probably null
R8286:Mctp1 UTSW 13 76,905,174 (GRCm39) missense probably benign 0.22
R8713:Mctp1 UTSW 13 76,789,922 (GRCm39) missense probably benign
R9029:Mctp1 UTSW 13 76,836,741 (GRCm39) missense probably benign 0.36
R9218:Mctp1 UTSW 13 76,871,816 (GRCm39) missense possibly damaging 0.94
R9447:Mctp1 UTSW 13 76,727,904 (GRCm39) missense probably benign 0.00
R9457:Mctp1 UTSW 13 76,532,793 (GRCm39) missense probably benign
R9670:Mctp1 UTSW 13 76,532,840 (GRCm39) missense probably benign 0.01
Z1189:Mctp1 UTSW 13 76,971,161 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCAAGTTTGAAGGATTGTGCTC -3'
(R):5'- AGTCACTGGGGAAGAGTCTC -3'

Sequencing Primer
(F):5'- CAGTACTTGAGAAAATTTCCTCCC -3'
(R):5'- TCTCTTCAGACACGTGAGAAAC -3'
Posted On 2016-12-15