Incidental Mutation 'R5624:Pcnx2'
ID 441740
Institutional Source Beutler Lab
Gene Symbol Pcnx2
Ensembl Gene ENSMUSG00000060212
Gene Name pecanex homolog 2
Synonyms Pcnxl2, E330039K12Rik
MMRRC Submission 043163-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5624 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 126478247-126625056 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 126488262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000042294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047239] [ENSMUST00000047239]
AlphaFold Q5DU28
Predicted Effect probably null
Transcript: ENSMUST00000047239
SMART Domains Protein: ENSMUSP00000042294
Gene: ENSMUSG00000060212

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 null
Transcript: ENSMUST00000047239
SMART Domains Protein: ENSMUSP00000042294
Gene: ENSMUSG00000060212

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 noncoding transcript
Transcript: ENSMUST00000119305
SMART Domains Protein: ENSMUSP00000113149
Gene: ENSMUSG00000060212

DomainStartEndE-ValueType
Pfam:Pecanex_C 157 386 1.8e-122 PFAM
low complexity region 421 446 N/A INTRINSIC
low complexity region 525 538 N/A INTRINSIC
low complexity region 561 576 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120589
SMART Domains Protein: ENSMUSP00000113111
Gene: ENSMUSG00000060212

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Pecanex_C 533 762 4e-122 PFAM
low complexity region 797 822 N/A INTRINSIC
low complexity region 901 914 N/A INTRINSIC
low complexity region 937 952 N/A INTRINSIC
Meta Mutation Damage Score 0.9482 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (47/48)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad2 T A 8: 120,341,844 (GRCm39) probably null Het
Aoah A T 13: 21,179,649 (GRCm39) N372I probably damaging Het
Ash1l T A 3: 88,892,916 (GRCm39) D1598E probably damaging Het
Bcas2 T C 3: 103,080,577 (GRCm39) C72R probably benign Het
Car9 T A 4: 43,509,146 (GRCm39) F238Y probably benign Het
Ccnd1 T C 7: 144,491,749 (GRCm39) S97G probably benign Het
Cfap52 C G 11: 67,818,184 (GRCm39) C509S possibly damaging Het
Clcn4 C A 7: 7,291,943 (GRCm39) V623L probably benign Het
Dnajc11 T C 4: 152,063,967 (GRCm39) V483A probably benign Het
E2f8 G T 7: 48,527,709 (GRCm39) D144E probably damaging Het
Epb41l1 G A 2: 156,375,691 (GRCm39) probably benign Het
Fam186a A C 15: 99,839,628 (GRCm39) H2205Q possibly damaging Het
Fhit A G 14: 10,421,534 (GRCm38) S85P probably damaging Het
Fzd8 G A 18: 9,213,268 (GRCm39) G117S unknown Het
Gsdmc4 A G 15: 63,764,503 (GRCm39) M379T possibly damaging Het
Hemk1 T C 9: 107,208,727 (GRCm39) R157G probably benign Het
Il10 A G 1: 130,951,940 (GRCm39) M158V probably benign Het
Jmjd1c G A 10: 67,069,193 (GRCm39) M1656I probably damaging Het
Kit A T 5: 75,770,054 (GRCm39) K155N probably benign Het
Lmtk3 C A 7: 45,436,286 (GRCm39) A114E probably damaging Het
Lztr1 A G 16: 17,329,993 (GRCm39) probably benign Het
Mras A G 9: 99,293,538 (GRCm39) F34S probably damaging Het
Myo1c A G 11: 75,553,461 (GRCm39) T516A probably damaging Het
Nme8 A C 13: 19,862,038 (GRCm39) V197G possibly damaging Het
Or13p5 T A 4: 118,592,568 (GRCm39) Y281N probably damaging Het
Or8k39 T C 2: 86,563,149 (GRCm39) D269G probably benign Het
Pcdhb9 A T 18: 37,534,459 (GRCm39) Y151F probably benign Het
Plekhg4 T C 8: 106,107,382 (GRCm39) F892S probably damaging Het
Prmt3 T A 7: 49,430,082 (GRCm39) F62I probably damaging Het
Ralgapa1 T C 12: 55,659,523 (GRCm39) Y1999C probably damaging Het
Rims2 A T 15: 39,208,809 (GRCm39) Q204L possibly damaging Het
Slc6a16 T G 7: 44,910,532 (GRCm39) H352Q probably benign Het
Snx9 T A 17: 5,942,084 (GRCm39) C70* probably null Het
Srprb A G 9: 103,074,800 (GRCm39) I114T probably damaging Het
Tas2r119 A T 15: 32,178,114 (GRCm39) I227F probably damaging Het
Tasor2 A G 13: 3,634,996 (GRCm39) S604P possibly damaging Het
Tg A T 15: 66,709,906 (GRCm39) Y163F probably benign Het
Tm2d2 A G 8: 25,512,784 (GRCm39) T211A probably damaging Het
Tmem132b A G 5: 125,699,710 (GRCm39) S83G probably benign Het
Trav9-4 T C 14: 53,913,886 (GRCm39) S47P probably benign Het
Vmn2r8 T A 5: 108,950,325 (GRCm39) H174L probably damaging Het
Xrcc1 A G 7: 24,259,270 (GRCm39) D85G possibly damaging Het
Zfp106 C G 2: 120,362,438 (GRCm39) A34P probably damaging Het
Zfp608 A T 18: 55,031,344 (GRCm39) N865K probably damaging Het
Zscan5b A G 7: 6,233,518 (GRCm39) D114G probably benign 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
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
R6849:Pcnx2 UTSW 8 126,587,949 (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'- CAATGGCCCACATGTCCTAC -3'
(R):5'- TCGCGAAGAAGGTGGTGATC -3'

Sequencing Primer
(F):5'- TGGCCCACATGTCCTACATCATAAC -3'
(R):5'- TGGTGATCTGCCACGAGG -3'
Posted On 2016-11-08