Incidental Mutation 'R6788:Pcnx2'
ID 532502
Institutional Source Beutler Lab
Gene Symbol Pcnx2
Ensembl Gene ENSMUSG00000060212
Gene Name pecanex homolog 2
Synonyms Pcnxl2, E330039K12Rik
MMRRC Submission 044902-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6788 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 126478247-126625056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126498839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1553 (D1553E)
Ref Sequence ENSEMBL: ENSMUSP00000042294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047239]
AlphaFold Q5DU28
Predicted Effect probably damaging
Transcript: ENSMUST00000047239
AA Change: D1553E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042294
Gene: ENSMUSG00000060212
AA Change: D1553E

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.4%
Validation Efficiency 97% (68/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A T 1: 179,580,199 (GRCm39) V2001E probably benign Het
Ahsg A G 16: 22,713,585 (GRCm39) D122G probably benign Het
Ank3 A G 10: 69,840,553 (GRCm39) Y1616C probably damaging Het
Arhgef1 A G 7: 24,619,205 (GRCm39) probably null Het
Atp7b T C 8: 22,494,391 (GRCm39) I1023V probably benign Het
Bod1l A T 5: 41,979,216 (GRCm39) Y699* probably null Het
Car12 C T 9: 66,659,244 (GRCm39) S183L probably damaging Het
Cep290 T C 10: 100,324,490 (GRCm39) S57P probably damaging Het
Cep57l1 T C 10: 41,619,145 (GRCm39) D74G probably damaging Het
Cers6 T C 2: 68,938,903 (GRCm39) Y374H possibly damaging Het
Chmp4c T A 3: 10,432,195 (GRCm39) M35K possibly damaging Het
Crkl G A 16: 17,301,645 (GRCm39) D300N probably damaging Het
Cyp3a41a A G 5: 145,642,639 (GRCm39) M240T probably benign Het
Dipk2a C T 9: 94,406,502 (GRCm39) V302I probably benign Het
Dnah12 G T 14: 26,523,470 (GRCm39) L1986F probably damaging Het
Dnah8 T C 17: 30,867,439 (GRCm39) I297T probably benign Het
Dock10 T A 1: 80,508,962 (GRCm39) I1610F probably damaging Het
Dpys T A 15: 39,720,559 (GRCm39) H67L probably damaging Het
Epc2 T G 2: 49,422,099 (GRCm39) V331G probably benign Het
Fnbp1l G A 3: 122,339,956 (GRCm39) R344* probably null Het
Gmip G T 8: 70,263,824 (GRCm39) L89F possibly damaging Het
Gmip G C 8: 70,263,826 (GRCm39) R90P probably damaging Het
Gpi1 A G 7: 33,928,415 (GRCm39) S74P probably damaging Het
Gys1 G A 7: 45,094,102 (GRCm39) E406K probably damaging Het
Hspg2 G A 4: 137,242,618 (GRCm39) G611E probably damaging Het
Klhl29 C T 12: 5,134,393 (GRCm39) V673M probably damaging Het
Lnpk T C 2: 74,360,020 (GRCm39) T332A probably benign Het
Loxl4 T C 19: 42,596,792 (GRCm39) D60G probably damaging Het
Lrr1 T C 12: 69,221,449 (GRCm39) I197T probably damaging Het
Map1lc3b A G 8: 122,320,316 (GRCm39) N43S probably benign Het
Map3k21 A T 8: 126,666,605 (GRCm39) D599V probably benign Het
Mastl T C 2: 23,023,710 (GRCm39) N338D probably benign Het
Mepe A T 5: 104,486,074 (GRCm39) R405* probably null Het
Mrps30 T C 13: 118,516,908 (GRCm39) E437G probably benign Het
Mup15 A G 4: 61,356,465 (GRCm39) V100A possibly damaging Het
Olfml1 A T 7: 107,167,075 (GRCm39) I35F probably damaging Het
Olfml2a T A 2: 38,850,238 (GRCm39) Y651* probably null Het
Or2h1b T A 17: 37,462,713 (GRCm39) D50V probably damaging Het
Otog T C 7: 45,947,741 (GRCm39) V113A probably damaging Het
Parvg C T 15: 84,210,464 (GRCm39) L44F possibly damaging Het
Pcyt2 C T 11: 120,505,200 (GRCm39) G122S probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Polq C T 16: 36,897,510 (GRCm39) T2134I probably damaging Het
Prkce T G 17: 86,937,489 (GRCm39) F641V probably damaging Het
Prss1 T C 6: 41,440,654 (GRCm39) I243T possibly damaging Het
Pxmp2 A G 5: 110,429,185 (GRCm39) F91L probably benign Het
Ralgapb G A 2: 158,278,486 (GRCm39) G5R probably damaging Het
Rasgef1a T G 6: 118,064,174 (GRCm39) M337R possibly damaging Het
Rassf2 A G 2: 131,844,845 (GRCm39) M199T probably damaging Het
Rtbdn A T 8: 85,679,303 (GRCm39) Y67F probably null Het
Scamp3 T C 3: 89,089,256 (GRCm39) V271A probably benign Het
Sema3a A T 5: 13,647,584 (GRCm39) R613W possibly damaging Het
Slc4a3 A T 1: 75,527,959 (GRCm39) I206F probably damaging Het
Slc9b1 A G 3: 135,063,518 (GRCm39) probably null Het
Smchd1 C A 17: 71,782,096 (GRCm39) V22F probably benign Het
Smg1 A G 7: 117,783,794 (GRCm39) probably benign Het
Spaca7b T C 8: 11,728,584 (GRCm39) E29G possibly damaging Het
Spata31e4 A C 13: 50,857,131 (GRCm39) H923P probably damaging Het
Stab1 A G 14: 30,861,117 (GRCm39) L89P probably damaging Het
Stim1 A G 7: 102,076,498 (GRCm39) E152G probably damaging Het
Tenm3 A G 8: 49,127,528 (GRCm39) F50S probably damaging Het
Tpgs2 T G 18: 25,262,927 (GRCm39) N231H probably benign Het
Trank1 T A 9: 111,219,747 (GRCm39) N2161K probably damaging Het
Trim28 A G 7: 12,759,273 (GRCm39) D129G probably benign Het
Trim66 A T 7: 109,076,961 (GRCm39) I326N probably damaging Het
Trim80 A T 11: 115,338,843 (GRCm39) T558S probably benign Het
Uggt1 T A 1: 36,269,769 (GRCm39) T83S probably benign Het
Wdr91 A G 6: 34,863,754 (GRCm39) I587T probably damaging Het
Zpld1 A T 16: 55,052,603 (GRCm39) V337D 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
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'- AAGACCCTCGCTTTCTTGGC -3'
(R):5'- CCTCAGAGGCATCTTTCCAG -3'

Sequencing Primer
(F):5'- GGCTTGCACTCAGTCCC -3'
(R):5'- AGCCCCTTCATTCTGAGATGTAC -3'
Posted On 2018-08-29