Incidental Mutation 'IGL03202:Pcnx2'
ID 413023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcnx2
Ensembl Gene ENSMUSG00000060212
Gene Name pecanex homolog 2
Synonyms Pcnxl2, E330039K12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03202
Quality Score
Status
Chromosome 8
Chromosomal Location 126478247-126625056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 126498783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 1572 (I1572S)
Ref Sequence ENSEMBL: ENSMUSP00000042294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047239]
AlphaFold Q5DU28
Predicted Effect probably damaging
Transcript: ENSMUST00000047239
AA Change: I1572S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042294
Gene: ENSMUSG00000060212
AA Change: I1572S

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
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 86,909,911 (GRCm39) M1T probably null Het
Ace T A 11: 105,867,788 (GRCm39) I168N probably damaging Het
Actr10 T G 12: 70,987,605 (GRCm39) C37W probably damaging Het
Atp10b T C 11: 43,125,268 (GRCm39) probably null Het
Bend5 A G 4: 111,290,441 (GRCm39) N146D possibly damaging Het
Cacna1b A G 2: 24,541,124 (GRCm39) F1347L probably damaging Het
Crybg3 T A 16: 59,315,072 (GRCm39) I2910F probably damaging Het
Cspg4 T C 9: 56,805,023 (GRCm39) S1945P possibly damaging Het
Cxcr4 T G 1: 128,516,641 (GRCm39) K340T probably damaging Het
Dnah6 T A 6: 73,121,683 (GRCm39) Y1433F probably damaging Het
Eif2ak4 T C 2: 118,231,101 (GRCm39) V77A probably damaging Het
Fscn3 A T 6: 28,434,451 (GRCm39) H342L probably benign Het
Gm9843 T C 16: 76,200,234 (GRCm39) noncoding transcript Het
Hdac9 T C 12: 34,423,950 (GRCm39) E520G probably damaging Het
Itm2b G A 14: 73,603,229 (GRCm39) P120L probably damaging Het
Itpa T A 2: 130,509,859 (GRCm39) probably benign Het
Lce1l A T 3: 92,757,631 (GRCm39) C76S unknown Het
Lin54 A G 5: 100,623,673 (GRCm39) S55P possibly damaging Het
Lrrc37 T A 11: 103,506,199 (GRCm39) E1923V probably benign Het
Mtfmt C A 9: 65,356,008 (GRCm39) P303Q probably damaging Het
Nae1 A T 8: 105,244,811 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,983,011 (GRCm39) probably benign Het
Or13a19 A G 7: 139,903,019 (GRCm39) M136V possibly damaging Het
Or1e22 G A 11: 73,377,351 (GRCm39) Q100* probably null Het
Piezo2 A T 18: 63,144,669 (GRCm39) Y2809N probably damaging Het
Pygl G T 12: 70,246,420 (GRCm39) Q376K probably benign Het
Resf1 G A 6: 149,227,937 (GRCm39) V328I probably benign Het
Rrp12 T C 19: 41,857,205 (GRCm39) probably null Het
Sephs1 A T 2: 4,894,074 (GRCm39) I92F possibly damaging Het
Taar4 T C 10: 23,836,692 (GRCm39) F101L probably damaging Het
Tenm2 A G 11: 35,915,375 (GRCm39) I2053T probably damaging Het
Tgfbr3 T G 5: 107,257,630 (GRCm39) probably benign Het
Vmn2r108 A T 17: 20,691,319 (GRCm39) Y401* probably null Het
Vmn2r87 A G 10: 130,333,091 (GRCm39) M53T probably benign Het
Zfp941 A G 7: 140,392,966 (GRCm39) V131A 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
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
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
Posted On 2016-08-02