Incidental Mutation 'R6849:Pcnx2'
ID 534914
Institutional Source Beutler Lab
Gene Symbol Pcnx2
Ensembl Gene ENSMUSG00000060212
Gene Name pecanex homolog 2
Synonyms Pcnxl2, E330039K12Rik
MMRRC Submission 044953-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6849 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 126478247-126625056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126587949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 833 (V833A)
Ref Sequence ENSEMBL: ENSMUSP00000042294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047239] [ENSMUST00000131127]
AlphaFold Q5DU28
Predicted Effect probably damaging
Transcript: ENSMUST00000047239
AA Change: V833A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042294
Gene: ENSMUSG00000060212
AA Change: V833A

DomainStartEndE-ValueType
transmembrane domain 36 53 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
low complexity region 94 104 N/A INTRINSIC
low complexity region 391 415 N/A INTRINSIC
low complexity region 457 476 N/A INTRINSIC
low complexity region 727 742 N/A INTRINSIC
low complexity region 806 817 N/A INTRINSIC
transmembrane domain 823 842 N/A INTRINSIC
transmembrane domain 849 866 N/A INTRINSIC
transmembrane domain 881 902 N/A INTRINSIC
transmembrane domain 934 956 N/A INTRINSIC
transmembrane domain 976 998 N/A INTRINSIC
transmembrane domain 1011 1030 N/A INTRINSIC
transmembrane domain 1080 1102 N/A INTRINSIC
transmembrane domain 1104 1126 N/A INTRINSIC
Pfam:Pecanex_C 1603 1828 3.5e-113 PFAM
low complexity region 1864 1889 N/A INTRINSIC
low complexity region 1968 1981 N/A INTRINSIC
low complexity region 2004 2019 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000131127
AA Change: V833A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119965
Gene: ENSMUSG00000060212
AA Change: V833A

DomainStartEndE-ValueType
transmembrane domain 36 53 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
low complexity region 94 104 N/A INTRINSIC
low complexity region 391 415 N/A INTRINSIC
low complexity region 457 476 N/A INTRINSIC
low complexity region 727 742 N/A INTRINSIC
low complexity region 806 817 N/A INTRINSIC
transmembrane domain 823 842 N/A INTRINSIC
transmembrane domain 849 866 N/A INTRINSIC
transmembrane domain 934 956 N/A INTRINSIC
transmembrane domain 968 990 N/A INTRINSIC
transmembrane domain 1010 1029 N/A INTRINSIC
Meta Mutation Damage Score 0.3179 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal carcinomas. [provided by RefSeq, Jun 2016]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik G T 8: 125,366,261 (GRCm39) Q161K probably damaging Het
4930578I06Rik A T 14: 64,223,687 (GRCm39) W30R probably damaging Het
4930578I06Rik G T 14: 64,223,688 (GRCm39) N29K probably benign Het
Aldh6a1 A G 12: 84,490,561 (GRCm39) V18A probably benign Het
Apoa5 A G 9: 46,181,298 (GRCm39) K125E probably benign Het
Atosa A C 9: 74,916,594 (GRCm39) N398H probably damaging Het
Bphl T A 13: 34,234,252 (GRCm39) probably null Het
C2cd3 T A 7: 100,056,134 (GRCm39) V514E probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cep192 A G 18: 67,945,506 (GRCm39) D202G probably benign Het
Chd5 A T 4: 152,462,995 (GRCm39) N1420Y probably damaging Het
Cnot10 A T 9: 114,461,004 (GRCm39) D55E probably benign Het
Cntn1 T A 15: 92,203,127 (GRCm39) I803N probably damaging Het
Col7a1 G T 9: 108,804,121 (GRCm39) V2217L unknown Het
Cpne9 T G 6: 113,279,079 (GRCm39) V491G probably damaging Het
Cracd C A 5: 77,004,857 (GRCm39) A406E unknown Het
Cracd C T 5: 77,005,004 (GRCm39) A455V unknown Het
Csnk2a1 C A 2: 152,092,484 (GRCm39) H18Q probably benign Het
D130040H23Rik T A 8: 69,755,303 (GRCm39) Y253* probably null Het
Dnah14 A T 1: 181,636,510 (GRCm39) M4321L probably benign Het
Dnah5 A G 15: 28,278,770 (GRCm39) T1122A probably benign Het
Eif4g1 A G 16: 20,499,495 (GRCm39) I515V probably benign Het
Fbn1 T C 2: 125,163,611 (GRCm39) K2082E possibly damaging Het
Fstl1 A G 16: 37,641,521 (GRCm39) K99R probably benign Het
Gar1 T C 3: 129,623,038 (GRCm39) N117S probably damaging Het
Gm3238 A T 10: 77,606,744 (GRCm39) probably benign Het
Gm32742 C T 9: 51,050,014 (GRCm39) M1528I probably benign Het
H2-T3 T C 17: 36,500,697 (GRCm39) I49V probably benign Het
Hyou1 A G 9: 44,298,561 (GRCm39) I581V probably damaging Het
Itk T C 11: 46,222,762 (GRCm39) N563S probably damaging Het
Lingo1 A G 9: 56,526,900 (GRCm39) L563P probably damaging Het
Lipc A G 9: 70,726,129 (GRCm39) probably null Het
Map4k3 A C 17: 80,937,842 (GRCm39) probably null Het
Mctp2 C T 7: 71,861,466 (GRCm39) C393Y probably damaging Het
Mei1 T A 15: 81,964,146 (GRCm39) L229M possibly damaging Het
Or13g1 T C 7: 85,956,248 (GRCm39) I24M possibly damaging Het
Or9i2 G T 19: 13,816,203 (GRCm39) C111* probably null Het
Pde8b T C 13: 95,184,307 (GRCm39) N388D possibly damaging Het
Pi4ka G A 16: 17,121,285 (GRCm39) A1197V possibly damaging Het
Psd A G 19: 46,306,185 (GRCm39) Y36H probably damaging Het
Scn8a T A 15: 100,853,468 (GRCm39) probably null Het
Shisa6 A G 11: 66,416,327 (GRCm39) V155A probably benign Het
Slc45a3 T A 1: 131,905,702 (GRCm39) C242S probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Tmc3 T A 7: 83,235,565 (GRCm39) I54K probably damaging Het
Tmprss11g T A 5: 86,644,491 (GRCm39) I118F probably benign Het
Ttn T A 2: 76,744,687 (GRCm39) D5454V possibly damaging Het
Ube2f A G 1: 91,181,935 (GRCm39) probably null Het
Ubr7 T C 12: 102,724,342 (GRCm39) S19P probably damaging Het
Vav3 T C 3: 109,428,782 (GRCm39) V371A probably damaging Het
Vmn2r28 A G 7: 5,483,806 (GRCm39) V798A probably damaging Het
Vmn2r95 T G 17: 18,664,181 (GRCm39) C467G probably damaging Het
Vmn2r95 G T 17: 18,664,182 (GRCm39) C467F probably damaging Het
Vps13b A G 15: 35,905,455 (GRCm39) D3325G probably damaging Het
Wnk2 T C 13: 49,220,834 (GRCm39) T1158A probably damaging Het
Zfp616 T A 11: 73,976,276 (GRCm39) N848K possibly damaging Het
Other mutations in Pcnx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Pcnx2 APN 8 126,614,324 (GRCm39) missense probably damaging 1.00
IGL00900:Pcnx2 APN 8 126,589,975 (GRCm39) splice site probably benign
IGL01134:Pcnx2 APN 8 126,589,889 (GRCm39) missense probably benign
IGL01370:Pcnx2 APN 8 126,528,222 (GRCm39) missense probably damaging 0.96
IGL01452:Pcnx2 APN 8 126,564,771 (GRCm39) missense probably damaging 1.00
IGL01477:Pcnx2 APN 8 126,512,044 (GRCm39) missense probably damaging 1.00
IGL01610:Pcnx2 APN 8 126,566,372 (GRCm39) missense possibly damaging 0.67
IGL01640:Pcnx2 APN 8 126,528,297 (GRCm39) missense probably benign 0.14
IGL01645:Pcnx2 APN 8 126,614,656 (GRCm39) missense probably damaging 1.00
IGL01876:Pcnx2 APN 8 126,592,770 (GRCm39) missense probably benign 0.31
IGL01933:Pcnx2 APN 8 126,488,393 (GRCm39) missense probably damaging 1.00
IGL02208:Pcnx2 APN 8 126,478,894 (GRCm39) missense probably benign 0.30
IGL02573:Pcnx2 APN 8 126,582,012 (GRCm39) missense probably benign 0.34
IGL02810:Pcnx2 APN 8 126,613,942 (GRCm39) missense probably benign 0.03
IGL02859:Pcnx2 APN 8 126,589,912 (GRCm39) missense probably damaging 1.00
IGL02879:Pcnx2 APN 8 126,498,796 (GRCm39) missense probably damaging 1.00
IGL03202:Pcnx2 APN 8 126,498,783 (GRCm39) missense probably damaging 0.98
IGL03259:Pcnx2 APN 8 126,480,388 (GRCm39) missense probably benign 0.19
IGL03395:Pcnx2 APN 8 126,614,262 (GRCm39) missense probably benign 0.00
IGL03410:Pcnx2 APN 8 126,613,779 (GRCm39) missense probably damaging 1.00
gallen UTSW 8 126,617,859 (GRCm39) missense probably damaging 1.00
hotzone UTSW 8 126,617,880 (GRCm39) missense probably benign 0.00
R0107:Pcnx2 UTSW 8 126,480,325 (GRCm39) missense probably benign 0.29
R0477:Pcnx2 UTSW 8 126,488,306 (GRCm39) missense probably damaging 0.99
R0610:Pcnx2 UTSW 8 126,566,426 (GRCm39) missense probably damaging 1.00
R0645:Pcnx2 UTSW 8 126,487,459 (GRCm39) missense possibly damaging 0.64
R0894:Pcnx2 UTSW 8 126,613,665 (GRCm39) splice site probably benign
R1083:Pcnx2 UTSW 8 126,498,843 (GRCm39) missense probably damaging 1.00
R1199:Pcnx2 UTSW 8 126,614,053 (GRCm39) missense possibly damaging 0.60
R1296:Pcnx2 UTSW 8 126,500,572 (GRCm39) missense probably damaging 1.00
R1445:Pcnx2 UTSW 8 126,479,023 (GRCm39) missense probably damaging 0.99
R1467:Pcnx2 UTSW 8 126,480,289 (GRCm39) missense possibly damaging 0.77
R1467:Pcnx2 UTSW 8 126,480,289 (GRCm39) missense possibly damaging 0.77
R1524:Pcnx2 UTSW 8 126,617,880 (GRCm39) missense probably benign 0.00
R1537:Pcnx2 UTSW 8 126,604,188 (GRCm39) missense possibly damaging 0.94
R1574:Pcnx2 UTSW 8 126,500,669 (GRCm39) missense probably damaging 1.00
R1574:Pcnx2 UTSW 8 126,500,669 (GRCm39) missense probably damaging 1.00
R1593:Pcnx2 UTSW 8 126,486,012 (GRCm39) missense probably benign 0.11
R1598:Pcnx2 UTSW 8 126,498,825 (GRCm39) missense probably benign 0.03
R1603:Pcnx2 UTSW 8 126,566,365 (GRCm39) missense probably damaging 1.00
R1697:Pcnx2 UTSW 8 126,577,087 (GRCm39) missense probably damaging 1.00
R1759:Pcnx2 UTSW 8 126,500,717 (GRCm39) missense probably damaging 1.00
R1855:Pcnx2 UTSW 8 126,534,735 (GRCm39) splice site probably benign
R1863:Pcnx2 UTSW 8 126,545,525 (GRCm39) missense probably damaging 0.98
R1930:Pcnx2 UTSW 8 126,614,453 (GRCm39) missense probably benign 0.10
R1967:Pcnx2 UTSW 8 126,542,422 (GRCm39) missense possibly damaging 0.51
R1974:Pcnx2 UTSW 8 126,614,110 (GRCm39) missense probably benign 0.00
R1998:Pcnx2 UTSW 8 126,613,882 (GRCm39) missense probably damaging 1.00
R2034:Pcnx2 UTSW 8 126,545,406 (GRCm39) critical splice donor site probably null
R2072:Pcnx2 UTSW 8 126,488,481 (GRCm39) missense possibly damaging 0.90
R2096:Pcnx2 UTSW 8 126,485,987 (GRCm39) missense probably benign 0.27
R2216:Pcnx2 UTSW 8 126,614,816 (GRCm39) missense probably benign 0.00
R2290:Pcnx2 UTSW 8 126,604,334 (GRCm39) splice site probably benign
R2373:Pcnx2 UTSW 8 126,480,190 (GRCm39) missense probably damaging 1.00
R2484:Pcnx2 UTSW 8 126,617,859 (GRCm39) missense probably damaging 1.00
R2849:Pcnx2 UTSW 8 126,487,666 (GRCm39) missense probably damaging 1.00
R2891:Pcnx2 UTSW 8 126,617,797 (GRCm39) missense probably damaging 1.00
R2892:Pcnx2 UTSW 8 126,617,797 (GRCm39) missense probably damaging 1.00
R2970:Pcnx2 UTSW 8 126,528,275 (GRCm39) missense probably damaging 1.00
R3013:Pcnx2 UTSW 8 126,614,509 (GRCm39) missense probably benign 0.05
R3608:Pcnx2 UTSW 8 126,614,840 (GRCm39) missense probably benign
R3876:Pcnx2 UTSW 8 126,614,897 (GRCm39) missense probably benign
R4349:Pcnx2 UTSW 8 126,489,590 (GRCm39) missense probably damaging 0.98
R4352:Pcnx2 UTSW 8 126,489,590 (GRCm39) missense probably damaging 0.98
R4353:Pcnx2 UTSW 8 126,489,590 (GRCm39) missense probably damaging 0.98
R4361:Pcnx2 UTSW 8 126,495,037 (GRCm39) nonsense probably null
R4735:Pcnx2 UTSW 8 126,554,780 (GRCm39) critical splice donor site probably null
R4749:Pcnx2 UTSW 8 126,614,327 (GRCm39) missense probably damaging 1.00
R4812:Pcnx2 UTSW 8 126,592,678 (GRCm39) missense probably benign 0.00
R4819:Pcnx2 UTSW 8 126,581,969 (GRCm39) missense probably benign 0.04
R4829:Pcnx2 UTSW 8 126,587,797 (GRCm39) splice site probably null
R4832:Pcnx2 UTSW 8 126,478,927 (GRCm39) missense probably damaging 0.99
R4876:Pcnx2 UTSW 8 126,498,847 (GRCm39) missense probably damaging 1.00
R4974:Pcnx2 UTSW 8 126,577,869 (GRCm39) missense probably benign 0.00
R5057:Pcnx2 UTSW 8 126,581,930 (GRCm39) missense possibly damaging 0.95
R5078:Pcnx2 UTSW 8 126,478,895 (GRCm39) missense probably benign
R5114:Pcnx2 UTSW 8 126,564,749 (GRCm39) missense possibly damaging 0.89
R5195:Pcnx2 UTSW 8 126,528,288 (GRCm39) missense possibly damaging 0.69
R5239:Pcnx2 UTSW 8 126,587,821 (GRCm39) splice site probably null
R5348:Pcnx2 UTSW 8 126,545,495 (GRCm39) missense probably damaging 1.00
R5398:Pcnx2 UTSW 8 126,614,687 (GRCm39) missense possibly damaging 0.63
R5448:Pcnx2 UTSW 8 126,614,888 (GRCm39) missense probably benign 0.14
R5534:Pcnx2 UTSW 8 126,564,754 (GRCm39) missense possibly damaging 0.65
R5624:Pcnx2 UTSW 8 126,488,262 (GRCm39) critical splice donor site probably null
R5629:Pcnx2 UTSW 8 126,624,780 (GRCm39) missense probably damaging 1.00
R5630:Pcnx2 UTSW 8 126,587,697 (GRCm39) missense probably damaging 0.99
R5782:Pcnx2 UTSW 8 126,480,223 (GRCm39) missense probably damaging 1.00
R5877:Pcnx2 UTSW 8 126,480,467 (GRCm39) missense probably damaging 0.99
R5879:Pcnx2 UTSW 8 126,500,685 (GRCm39) missense probably damaging 1.00
R6114:Pcnx2 UTSW 8 126,500,686 (GRCm39) missense probably damaging 1.00
R6152:Pcnx2 UTSW 8 126,480,491 (GRCm39) missense probably damaging 0.99
R6154:Pcnx2 UTSW 8 126,489,552 (GRCm39) missense probably damaging 1.00
R6283:Pcnx2 UTSW 8 126,604,325 (GRCm39) missense probably damaging 0.99
R6500:Pcnx2 UTSW 8 126,480,224 (GRCm39) missense probably damaging 1.00
R6629:Pcnx2 UTSW 8 126,617,851 (GRCm39) missense probably benign 0.00
R6708:Pcnx2 UTSW 8 126,587,692 (GRCm39) critical splice donor site probably null
R6736:Pcnx2 UTSW 8 126,479,056 (GRCm39) splice site probably null
R6748:Pcnx2 UTSW 8 126,577,074 (GRCm39) missense probably damaging 1.00
R6788:Pcnx2 UTSW 8 126,498,839 (GRCm39) missense probably damaging 1.00
R6947:Pcnx2 UTSW 8 126,577,021 (GRCm39) critical splice donor site probably null
R7034:Pcnx2 UTSW 8 126,512,041 (GRCm39) missense probably damaging 1.00
R7100:Pcnx2 UTSW 8 126,485,853 (GRCm39) missense probably benign 0.16
R7124:Pcnx2 UTSW 8 126,480,356 (GRCm39) missense probably damaging 0.99
R7130:Pcnx2 UTSW 8 126,480,323 (GRCm39) nonsense probably null
R7133:Pcnx2 UTSW 8 126,528,243 (GRCm39) missense probably benign 0.01
R7271:Pcnx2 UTSW 8 126,613,690 (GRCm39) missense probably benign
R7326:Pcnx2 UTSW 8 126,613,822 (GRCm39) missense probably damaging 1.00
R7373:Pcnx2 UTSW 8 126,534,766 (GRCm39) missense probably damaging 1.00
R7397:Pcnx2 UTSW 8 126,617,624 (GRCm39) splice site probably null
R7662:Pcnx2 UTSW 8 126,545,510 (GRCm39) nonsense probably null
R7693:Pcnx2 UTSW 8 126,613,864 (GRCm39) missense probably benign 0.09
R7726:Pcnx2 UTSW 8 126,577,069 (GRCm39) missense probably benign 0.00
R7745:Pcnx2 UTSW 8 126,577,846 (GRCm39) missense probably benign 0.04
R7792:Pcnx2 UTSW 8 126,618,757 (GRCm39) missense possibly damaging 0.63
R7797:Pcnx2 UTSW 8 126,512,087 (GRCm39) missense possibly damaging 0.70
R7921:Pcnx2 UTSW 8 126,564,602 (GRCm39) missense probably benign
R7984:Pcnx2 UTSW 8 126,485,865 (GRCm39) missense probably benign
R8098:Pcnx2 UTSW 8 126,495,040 (GRCm39) missense probably damaging 1.00
R8277:Pcnx2 UTSW 8 126,592,755 (GRCm39) missense probably damaging 1.00
R8312:Pcnx2 UTSW 8 126,489,589 (GRCm39) missense possibly damaging 0.69
R8354:Pcnx2 UTSW 8 126,488,357 (GRCm39) missense probably damaging 0.99
R8378:Pcnx2 UTSW 8 126,487,649 (GRCm39) missense probably damaging 1.00
R8713:Pcnx2 UTSW 8 126,545,525 (GRCm39) missense probably damaging 1.00
R8714:Pcnx2 UTSW 8 126,500,546 (GRCm39) missense probably benign
R8753:Pcnx2 UTSW 8 126,613,999 (GRCm39) missense probably benign 0.15
R8790:Pcnx2 UTSW 8 126,604,306 (GRCm39) missense probably benign
R8925:Pcnx2 UTSW 8 126,614,659 (GRCm39) missense probably benign 0.01
R8927:Pcnx2 UTSW 8 126,614,659 (GRCm39) missense probably benign 0.01
R8965:Pcnx2 UTSW 8 126,485,853 (GRCm39) missense probably benign 0.16
R9006:Pcnx2 UTSW 8 126,613,996 (GRCm39) missense probably benign 0.00
R9082:Pcnx2 UTSW 8 126,613,753 (GRCm39) missense probably damaging 1.00
R9202:Pcnx2 UTSW 8 126,616,416 (GRCm39) critical splice acceptor site probably null
R9315:Pcnx2 UTSW 8 126,614,119 (GRCm39) missense probably benign 0.00
R9434:Pcnx2 UTSW 8 126,542,512 (GRCm39) missense probably benign 0.00
R9660:Pcnx2 UTSW 8 126,487,592 (GRCm39) missense probably damaging 1.00
R9686:Pcnx2 UTSW 8 126,592,766 (GRCm39) missense probably benign
R9766:Pcnx2 UTSW 8 126,488,313 (GRCm39) missense probably damaging 1.00
R9778:Pcnx2 UTSW 8 126,512,176 (GRCm39) missense probably benign 0.00
R9792:Pcnx2 UTSW 8 126,534,820 (GRCm39) missense probably damaging 0.99
RF018:Pcnx2 UTSW 8 126,604,258 (GRCm39) missense probably damaging 1.00
Z1088:Pcnx2 UTSW 8 126,592,757 (GRCm39) missense probably damaging 1.00
Z1088:Pcnx2 UTSW 8 126,553,667 (GRCm39) missense probably damaging 1.00
Z1176:Pcnx2 UTSW 8 126,564,753 (GRCm39) missense probably benign 0.30
Z1176:Pcnx2 UTSW 8 126,488,393 (GRCm39) missense probably damaging 1.00
Z1177:Pcnx2 UTSW 8 126,614,699 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGCTGGACGCTCTAAAACAC -3'
(R):5'- CACCTGTGCTCAGTGTTGGTTC -3'

Sequencing Primer
(F):5'- ACCAGAGGACCTGAGTTACCTTG -3'
(R):5'- TTGGTTCAGGGCTGGAAC -3'
Posted On 2018-09-12