Incidental Mutation 'R0107:Pcnx2'
ID 33330
Institutional Source Beutler Lab
Gene Symbol Pcnx2
Ensembl Gene ENSMUSG00000060212
Gene Name pecanex homolog 2
Synonyms Pcnxl2, E330039K12Rik
MMRRC Submission 038393-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0107 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 8
Chromosomal Location 126478247-126625056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126480325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1994 (V1994D)
Ref Sequence ENSEMBL: ENSMUSP00000042294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047239]
AlphaFold Q5DU28
Predicted Effect probably benign
Transcript: ENSMUST00000047239
AA Change: V1994D

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000042294
Gene: ENSMUSG00000060212
AA Change: V1994D

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 0.0845 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 90.6%
Validation Efficiency 99% (71/72)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,737 (GRCm39) L397I possibly damaging Het
Abca1 A G 4: 53,080,834 (GRCm39) V825A probably benign Het
Adamts7 T C 9: 90,062,773 (GRCm39) I409T possibly damaging Het
Adck1 T C 12: 88,413,426 (GRCm39) W253R possibly damaging Het
Afg3l2 A G 18: 67,564,836 (GRCm39) F213L probably damaging Het
Ankle2 T C 5: 110,400,893 (GRCm39) V743A probably benign Het
Ankrd34c C T 9: 89,611,537 (GRCm39) R268H probably benign Het
Arb2a A G 13: 78,050,933 (GRCm39) D145G probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Ccdc7b T G 8: 129,904,678 (GRCm39) probably benign Het
Cd320 A T 17: 34,067,059 (GRCm39) M169L probably benign Het
Chn1 A G 2: 73,445,028 (GRCm39) Y338H probably damaging Het
Chuk T A 19: 44,085,358 (GRCm39) S263C probably damaging Het
Dennd4b C A 3: 90,180,043 (GRCm39) P663T possibly damaging Het
Dnajc24 T G 2: 105,832,259 (GRCm39) probably benign Het
Fbn2 A G 18: 58,189,275 (GRCm39) V1617A probably benign Het
Fermt2 T C 14: 45,702,279 (GRCm39) N502D probably damaging Het
Frrs1 A T 3: 116,690,365 (GRCm39) I3F probably damaging Het
Fut1 C A 7: 45,268,270 (GRCm39) Q20K possibly damaging Het
Gbf1 T C 19: 46,273,267 (GRCm39) V1709A probably benign Het
Gfra3 G T 18: 34,844,359 (GRCm39) H60Q probably benign Het
Gm10750 T A 2: 148,857,973 (GRCm39) M93L unknown Het
Hmcn1 T A 1: 150,462,766 (GRCm39) I5124L probably benign Het
Hps3 A C 3: 20,084,960 (GRCm39) L76R probably damaging Het
Ifrd1 T A 12: 40,264,080 (GRCm39) Q105L probably damaging Het
Irs2 A T 8: 11,054,691 (GRCm39) V1247E probably damaging Het
Itgal T C 7: 126,927,731 (GRCm39) probably benign Het
Ivns1abp A T 1: 151,237,321 (GRCm39) N495I probably damaging Het
Kank1 T A 19: 25,407,730 (GRCm39) probably benign Het
Mroh8 T C 2: 157,067,388 (GRCm39) Q657R probably benign Het
Mthfd1l T C 10: 3,991,838 (GRCm39) Y597H probably benign Het
Myom1 G A 17: 71,384,360 (GRCm39) V692I probably damaging Het
Or13a17 A T 7: 140,271,258 (GRCm39) M147L probably benign Het
Or1j18 T G 2: 36,624,730 (GRCm39) Y132* probably null Het
Or7g20 A G 9: 18,946,629 (GRCm39) D70G probably damaging Het
Palmd A T 3: 116,717,725 (GRCm39) H257Q probably damaging Het
Phkb G A 8: 86,743,560 (GRCm39) G553S probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Ptprn A T 1: 75,232,356 (GRCm39) L453M probably damaging Het
Ptprz1 T A 6: 23,000,569 (GRCm39) D886E probably damaging Het
Rcn1 T A 2: 105,225,126 (GRCm39) I110F possibly damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Slc6a19 A G 13: 73,832,176 (GRCm39) Y467H possibly damaging Het
Slc9c1 T A 16: 45,395,783 (GRCm39) D611E probably benign Het
Slitrk6 T C 14: 110,989,395 (GRCm39) E104G possibly damaging Het
Spag17 A T 3: 99,958,103 (GRCm39) K920N possibly damaging Het
St3gal5 A G 6: 72,119,133 (GRCm39) S82G probably benign Het
Tlk1 T C 2: 70,544,333 (GRCm39) *767W probably null Het
Tln2 A G 9: 67,277,988 (GRCm39) V342A probably damaging Het
Tmem104 T A 11: 115,093,006 (GRCm39) M132K probably damaging Het
Tmem184c A G 8: 78,323,702 (GRCm39) S387P possibly damaging Het
Tmtc1 A G 6: 148,327,411 (GRCm39) V34A possibly damaging Het
Trim46 A G 3: 89,143,640 (GRCm39) F596S probably damaging Het
Unc79 T A 12: 103,100,784 (GRCm39) D1870E possibly damaging Het
Utp20 T C 10: 88,614,253 (GRCm39) T1234A probably benign Het
Vmn1r31 T A 6: 58,449,728 (GRCm39) T46S probably benign Het
Vps13a A T 19: 16,669,188 (GRCm39) L1341Q probably benign Het
Wdr72 A T 9: 74,117,715 (GRCm39) D821V probably damaging Het
Zfhx4 T C 3: 5,464,042 (GRCm39) L1400P probably damaging Het
Zfp217 T A 2: 169,956,794 (GRCm39) K735* probably null Het
Zfp235 A G 7: 23,836,541 (GRCm39) Q29R probably damaging Het
Zfp628 A G 7: 4,923,167 (GRCm39) Y463C probably damaging Het
Zkscan4 A G 13: 21,668,751 (GRCm39) T401A 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
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
Predicted Primers PCR Primer
(F):5'- TCATTTGCTATAGAGCAACCTGCCC -3'
(R):5'- ATTCAGCGATAAGCCAGAGGCCAC -3'

Sequencing Primer
(F):5'- CGGAGGGACCCATCACAATG -3'
(R):5'- AGAGGCCACCTACTCTGAG -3'
Posted On 2013-05-09