Incidental Mutation 'R2216:Pcnx2'
ID 241160
Institutional Source Beutler Lab
Gene Symbol Pcnx2
Ensembl Gene ENSMUSG00000060212
Gene Name pecanex homolog 2
Synonyms Pcnxl2, E330039K12Rik
MMRRC Submission 040218-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2216 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 125751508-125898317 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 125888077 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 212 (A212T)
Ref Sequence ENSEMBL: ENSMUSP00000119965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047239] [ENSMUST00000131127]
AlphaFold Q5DU28
Predicted Effect probably benign
Transcript: ENSMUST00000047239
AA Change: A212T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000042294
Gene: ENSMUSG00000060212
AA Change: A212T

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 benign
Transcript: ENSMUST00000131127
AA Change: A212T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119965
Gene: ENSMUSG00000060212
AA Change: A212T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187772
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 G T 11: 72,031,446 (GRCm38) P146T probably damaging Het
Arnt2 T A 7: 84,275,351 (GRCm38) T423S probably damaging Het
Bend5 A G 4: 111,448,590 (GRCm38) N277S probably null Het
Cd22 G T 7: 30,867,046 (GRCm38) T816N probably damaging Het
Cep126 G A 9: 8,120,678 (GRCm38) R115C probably damaging Het
Cep85 T C 4: 134,131,430 (GRCm38) H710R possibly damaging Het
Cmya5 A T 13: 93,093,495 (GRCm38) L1695H probably damaging Het
Col24a1 T C 3: 145,314,981 (GRCm38) V371A probably benign Het
Csmd1 T A 8: 17,027,339 (GRCm38) probably null Het
Cyp1a1 T A 9: 57,702,069 (GRCm38) probably null Het
Dennd1c C T 17: 57,074,492 (GRCm38) probably null Het
Dmxl1 G A 18: 49,893,923 (GRCm38) V2033I probably benign Het
Dtna A G 18: 23,569,565 (GRCm38) H51R probably damaging Het
Dysf G A 6: 84,207,245 (GRCm38) probably null Het
Gcn1l1 T A 5: 115,593,661 (GRCm38) V945E probably benign Het
Gm12800 T A 4: 101,910,060 (GRCm38) W169R probably damaging Het
Gpbar1 C G 1: 74,278,894 (GRCm38) L99V probably damaging Het
Hdac9 A T 12: 34,429,517 (GRCm38) D212E probably damaging Het
Itga1 A T 13: 114,997,029 (GRCm38) D448E probably benign Het
Itga2b T A 11: 102,467,866 (GRCm38) N75I probably benign Het
Klra7 T C 6: 130,228,586 (GRCm38) E117G probably benign Het
Kmt2b G A 7: 30,574,065 (GRCm38) R2349C probably benign Het
Masp1 T C 16: 23,492,055 (GRCm38) N209S probably benign Het
Mybpc2 C T 7: 44,512,500 (GRCm38) probably null Het
Myh15 C G 16: 49,165,838 (GRCm38) S1557* probably null Het
Myo3a A C 2: 22,577,771 (GRCm38) T346P probably benign Het
Nim1k A G 13: 119,714,215 (GRCm38) Y152H probably damaging Het
Nrp2 C T 1: 62,762,918 (GRCm38) R507* probably null Het
Olfr513 C T 7: 108,755,612 (GRCm38) T252M probably damaging Het
Olfr702 T A 7: 106,823,998 (GRCm38) H176L probably damaging Het
Parp14 T C 16: 35,857,205 (GRCm38) I798V probably benign Het
Pkhd1l1 A T 15: 44,573,895 (GRCm38) H3522L probably damaging Het
Pram1 C T 17: 33,641,284 (GRCm38) A275V probably benign Het
Prkag1 A T 15: 98,815,946 (GRCm38) M1K probably null Het
Prss52 T C 14: 64,113,593 (GRCm38) S276P probably damaging Het
Ranbp17 A T 11: 33,481,125 (GRCm38) V284D probably damaging Het
Reln T C 5: 22,048,005 (GRCm38) D648G probably benign Het
Rnf112 A G 11: 61,452,279 (GRCm38) L190P probably damaging Het
Scn5a T C 9: 119,513,085 (GRCm38) Y1138C probably benign Het
Scn5a G T 9: 119,485,612 (GRCm38) P2010Q probably benign Het
Slc4a9 A G 18: 36,530,745 (GRCm38) H274R probably benign Het
Slc5a6 T G 5: 31,039,335 (GRCm38) E391D possibly damaging Het
Speer2 T C 16: 69,858,842 (GRCm38) Q32R possibly damaging Het
Tars A G 15: 11,389,708 (GRCm38) V372A probably benign Het
Thsd7a A T 6: 12,337,268 (GRCm38) L1250Q possibly damaging Het
Tnnt3 A G 7: 142,512,564 (GRCm38) Y222C probably benign Het
Trim40 T C 17: 36,888,983 (GRCm38) I68V probably benign Het
Trp53tg5 T C 2: 164,471,306 (GRCm38) I150V probably benign Het
Ube2u T C 4: 100,532,168 (GRCm38) V109A probably benign Het
Usp54 A T 14: 20,561,840 (GRCm38) D969E probably benign Het
Vil1 G T 1: 74,425,679 (GRCm38) R495L probably benign Het
Wfs1 T A 5: 36,967,220 (GRCm38) K700* probably null Het
Zcchc8 A G 5: 123,707,403 (GRCm38) L298P probably damaging Het
Zfp946 A T 17: 22,454,716 (GRCm38) Q150H possibly damaging Het
Other mutations in Pcnx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Pcnx2 APN 8 125,887,585 (GRCm38) missense probably damaging 1.00
IGL00900:Pcnx2 APN 8 125,863,236 (GRCm38) splice site probably benign
IGL01134:Pcnx2 APN 8 125,863,150 (GRCm38) missense probably benign
IGL01370:Pcnx2 APN 8 125,801,483 (GRCm38) missense probably damaging 0.96
IGL01452:Pcnx2 APN 8 125,838,032 (GRCm38) missense probably damaging 1.00
IGL01477:Pcnx2 APN 8 125,785,305 (GRCm38) missense probably damaging 1.00
IGL01610:Pcnx2 APN 8 125,839,633 (GRCm38) missense possibly damaging 0.67
IGL01640:Pcnx2 APN 8 125,801,558 (GRCm38) missense probably benign 0.14
IGL01645:Pcnx2 APN 8 125,887,917 (GRCm38) missense probably damaging 1.00
IGL01876:Pcnx2 APN 8 125,866,031 (GRCm38) missense probably benign 0.31
IGL01933:Pcnx2 APN 8 125,761,654 (GRCm38) missense probably damaging 1.00
IGL02208:Pcnx2 APN 8 125,752,155 (GRCm38) missense probably benign 0.30
IGL02573:Pcnx2 APN 8 125,855,273 (GRCm38) missense probably benign 0.34
IGL02810:Pcnx2 APN 8 125,887,203 (GRCm38) missense probably benign 0.03
IGL02859:Pcnx2 APN 8 125,863,173 (GRCm38) missense probably damaging 1.00
IGL02879:Pcnx2 APN 8 125,772,057 (GRCm38) missense probably damaging 1.00
IGL03202:Pcnx2 APN 8 125,772,044 (GRCm38) missense probably damaging 0.98
IGL03259:Pcnx2 APN 8 125,753,649 (GRCm38) missense probably benign 0.19
IGL03395:Pcnx2 APN 8 125,887,523 (GRCm38) missense probably benign 0.00
IGL03410:Pcnx2 APN 8 125,887,040 (GRCm38) missense probably damaging 1.00
gallen UTSW 8 125,891,120 (GRCm38) missense probably damaging 1.00
hotzone UTSW 8 125,891,141 (GRCm38) missense probably benign 0.00
R0107:Pcnx2 UTSW 8 125,753,586 (GRCm38) missense probably benign 0.29
R0477:Pcnx2 UTSW 8 125,761,567 (GRCm38) missense probably damaging 0.99
R0610:Pcnx2 UTSW 8 125,839,687 (GRCm38) missense probably damaging 1.00
R0645:Pcnx2 UTSW 8 125,760,720 (GRCm38) missense possibly damaging 0.64
R0894:Pcnx2 UTSW 8 125,886,926 (GRCm38) splice site probably benign
R1083:Pcnx2 UTSW 8 125,772,104 (GRCm38) missense probably damaging 1.00
R1199:Pcnx2 UTSW 8 125,887,314 (GRCm38) missense possibly damaging 0.60
R1296:Pcnx2 UTSW 8 125,773,833 (GRCm38) missense probably damaging 1.00
R1445:Pcnx2 UTSW 8 125,752,284 (GRCm38) missense probably damaging 0.99
R1467:Pcnx2 UTSW 8 125,753,550 (GRCm38) missense possibly damaging 0.77
R1467:Pcnx2 UTSW 8 125,753,550 (GRCm38) missense possibly damaging 0.77
R1524:Pcnx2 UTSW 8 125,891,141 (GRCm38) missense probably benign 0.00
R1537:Pcnx2 UTSW 8 125,877,449 (GRCm38) missense possibly damaging 0.94
R1574:Pcnx2 UTSW 8 125,773,930 (GRCm38) missense probably damaging 1.00
R1574:Pcnx2 UTSW 8 125,773,930 (GRCm38) missense probably damaging 1.00
R1593:Pcnx2 UTSW 8 125,759,273 (GRCm38) missense probably benign 0.11
R1598:Pcnx2 UTSW 8 125,772,086 (GRCm38) missense probably benign 0.03
R1603:Pcnx2 UTSW 8 125,839,626 (GRCm38) missense probably damaging 1.00
R1697:Pcnx2 UTSW 8 125,850,348 (GRCm38) missense probably damaging 1.00
R1759:Pcnx2 UTSW 8 125,773,978 (GRCm38) missense probably damaging 1.00
R1855:Pcnx2 UTSW 8 125,807,996 (GRCm38) splice site probably benign
R1863:Pcnx2 UTSW 8 125,818,786 (GRCm38) missense probably damaging 0.98
R1930:Pcnx2 UTSW 8 125,887,714 (GRCm38) missense probably benign 0.10
R1967:Pcnx2 UTSW 8 125,815,683 (GRCm38) missense possibly damaging 0.51
R1974:Pcnx2 UTSW 8 125,887,371 (GRCm38) missense probably benign 0.00
R1998:Pcnx2 UTSW 8 125,887,143 (GRCm38) missense probably damaging 1.00
R2034:Pcnx2 UTSW 8 125,818,667 (GRCm38) critical splice donor site probably null
R2072:Pcnx2 UTSW 8 125,761,742 (GRCm38) missense possibly damaging 0.90
R2096:Pcnx2 UTSW 8 125,759,248 (GRCm38) missense probably benign 0.27
R2290:Pcnx2 UTSW 8 125,877,595 (GRCm38) splice site probably benign
R2373:Pcnx2 UTSW 8 125,753,451 (GRCm38) missense probably damaging 1.00
R2484:Pcnx2 UTSW 8 125,891,120 (GRCm38) missense probably damaging 1.00
R2849:Pcnx2 UTSW 8 125,760,927 (GRCm38) missense probably damaging 1.00
R2891:Pcnx2 UTSW 8 125,891,058 (GRCm38) missense probably damaging 1.00
R2892:Pcnx2 UTSW 8 125,891,058 (GRCm38) missense probably damaging 1.00
R2970:Pcnx2 UTSW 8 125,801,536 (GRCm38) missense probably damaging 1.00
R3013:Pcnx2 UTSW 8 125,887,770 (GRCm38) missense probably benign 0.05
R3608:Pcnx2 UTSW 8 125,888,101 (GRCm38) missense probably benign
R3876:Pcnx2 UTSW 8 125,888,158 (GRCm38) missense probably benign
R4349:Pcnx2 UTSW 8 125,762,851 (GRCm38) missense probably damaging 0.98
R4352:Pcnx2 UTSW 8 125,762,851 (GRCm38) missense probably damaging 0.98
R4353:Pcnx2 UTSW 8 125,762,851 (GRCm38) missense probably damaging 0.98
R4361:Pcnx2 UTSW 8 125,768,298 (GRCm38) nonsense probably null
R4735:Pcnx2 UTSW 8 125,828,041 (GRCm38) critical splice donor site probably null
R4749:Pcnx2 UTSW 8 125,887,588 (GRCm38) missense probably damaging 1.00
R4812:Pcnx2 UTSW 8 125,865,939 (GRCm38) missense probably benign 0.00
R4819:Pcnx2 UTSW 8 125,855,230 (GRCm38) missense probably benign 0.04
R4829:Pcnx2 UTSW 8 125,861,058 (GRCm38) splice site probably null
R4832:Pcnx2 UTSW 8 125,752,188 (GRCm38) missense probably damaging 0.99
R4876:Pcnx2 UTSW 8 125,772,108 (GRCm38) missense probably damaging 1.00
R4974:Pcnx2 UTSW 8 125,851,130 (GRCm38) missense probably benign 0.00
R5057:Pcnx2 UTSW 8 125,855,191 (GRCm38) missense possibly damaging 0.95
R5078:Pcnx2 UTSW 8 125,752,156 (GRCm38) missense probably benign
R5114:Pcnx2 UTSW 8 125,838,010 (GRCm38) missense possibly damaging 0.89
R5195:Pcnx2 UTSW 8 125,801,549 (GRCm38) missense possibly damaging 0.69
R5239:Pcnx2 UTSW 8 125,861,082 (GRCm38) splice site probably null
R5348:Pcnx2 UTSW 8 125,818,756 (GRCm38) missense probably damaging 1.00
R5398:Pcnx2 UTSW 8 125,887,948 (GRCm38) missense possibly damaging 0.63
R5448:Pcnx2 UTSW 8 125,888,149 (GRCm38) missense probably benign 0.14
R5534:Pcnx2 UTSW 8 125,838,015 (GRCm38) missense possibly damaging 0.65
R5624:Pcnx2 UTSW 8 125,761,523 (GRCm38) critical splice donor site probably null
R5629:Pcnx2 UTSW 8 125,898,041 (GRCm38) missense probably damaging 1.00
R5630:Pcnx2 UTSW 8 125,860,958 (GRCm38) missense probably damaging 0.99
R5782:Pcnx2 UTSW 8 125,753,484 (GRCm38) missense probably damaging 1.00
R5877:Pcnx2 UTSW 8 125,753,728 (GRCm38) missense probably damaging 0.99
R5879:Pcnx2 UTSW 8 125,773,946 (GRCm38) missense probably damaging 1.00
R6114:Pcnx2 UTSW 8 125,773,947 (GRCm38) missense probably damaging 1.00
R6152:Pcnx2 UTSW 8 125,753,752 (GRCm38) missense probably damaging 0.99
R6154:Pcnx2 UTSW 8 125,762,813 (GRCm38) missense probably damaging 1.00
R6283:Pcnx2 UTSW 8 125,877,586 (GRCm38) missense probably damaging 0.99
R6500:Pcnx2 UTSW 8 125,753,485 (GRCm38) missense probably damaging 1.00
R6629:Pcnx2 UTSW 8 125,891,112 (GRCm38) missense probably benign 0.00
R6708:Pcnx2 UTSW 8 125,860,953 (GRCm38) critical splice donor site probably null
R6736:Pcnx2 UTSW 8 125,752,317 (GRCm38) splice site probably null
R6748:Pcnx2 UTSW 8 125,850,335 (GRCm38) missense probably damaging 1.00
R6788:Pcnx2 UTSW 8 125,772,100 (GRCm38) missense probably damaging 1.00
R6849:Pcnx2 UTSW 8 125,861,210 (GRCm38) missense probably damaging 1.00
R6947:Pcnx2 UTSW 8 125,850,282 (GRCm38) critical splice donor site probably null
R7034:Pcnx2 UTSW 8 125,785,302 (GRCm38) missense probably damaging 1.00
R7100:Pcnx2 UTSW 8 125,759,114 (GRCm38) missense probably benign 0.16
R7124:Pcnx2 UTSW 8 125,753,617 (GRCm38) missense probably damaging 0.99
R7130:Pcnx2 UTSW 8 125,753,584 (GRCm38) nonsense probably null
R7133:Pcnx2 UTSW 8 125,801,504 (GRCm38) missense probably benign 0.01
R7271:Pcnx2 UTSW 8 125,886,951 (GRCm38) missense probably benign
R7326:Pcnx2 UTSW 8 125,887,083 (GRCm38) missense probably damaging 1.00
R7373:Pcnx2 UTSW 8 125,808,027 (GRCm38) missense probably damaging 1.00
R7397:Pcnx2 UTSW 8 125,890,885 (GRCm38) splice site probably null
R7662:Pcnx2 UTSW 8 125,818,771 (GRCm38) nonsense probably null
R7693:Pcnx2 UTSW 8 125,887,125 (GRCm38) missense probably benign 0.09
R7726:Pcnx2 UTSW 8 125,850,330 (GRCm38) missense probably benign 0.00
R7745:Pcnx2 UTSW 8 125,851,107 (GRCm38) missense probably benign 0.04
R7792:Pcnx2 UTSW 8 125,892,018 (GRCm38) missense possibly damaging 0.63
R7797:Pcnx2 UTSW 8 125,785,348 (GRCm38) missense possibly damaging 0.70
R7921:Pcnx2 UTSW 8 125,837,863 (GRCm38) missense probably benign
R7984:Pcnx2 UTSW 8 125,759,126 (GRCm38) missense probably benign
R8098:Pcnx2 UTSW 8 125,768,301 (GRCm38) missense probably damaging 1.00
R8277:Pcnx2 UTSW 8 125,866,016 (GRCm38) missense probably damaging 1.00
R8312:Pcnx2 UTSW 8 125,762,850 (GRCm38) missense possibly damaging 0.69
R8354:Pcnx2 UTSW 8 125,761,618 (GRCm38) missense probably damaging 0.99
R8378:Pcnx2 UTSW 8 125,760,910 (GRCm38) missense probably damaging 1.00
R8713:Pcnx2 UTSW 8 125,818,786 (GRCm38) missense probably damaging 1.00
R8714:Pcnx2 UTSW 8 125,773,807 (GRCm38) missense probably benign
R8753:Pcnx2 UTSW 8 125,887,260 (GRCm38) missense probably benign 0.15
R8790:Pcnx2 UTSW 8 125,877,567 (GRCm38) missense probably benign
R8925:Pcnx2 UTSW 8 125,887,920 (GRCm38) missense probably benign 0.01
R8927:Pcnx2 UTSW 8 125,887,920 (GRCm38) missense probably benign 0.01
R8965:Pcnx2 UTSW 8 125,759,114 (GRCm38) missense probably benign 0.16
R9006:Pcnx2 UTSW 8 125,887,257 (GRCm38) missense probably benign 0.00
R9082:Pcnx2 UTSW 8 125,887,014 (GRCm38) missense probably damaging 1.00
R9202:Pcnx2 UTSW 8 125,889,677 (GRCm38) critical splice acceptor site probably null
R9315:Pcnx2 UTSW 8 125,887,380 (GRCm38) missense probably benign 0.00
R9434:Pcnx2 UTSW 8 125,815,773 (GRCm38) missense probably benign 0.00
R9660:Pcnx2 UTSW 8 125,760,853 (GRCm38) missense probably damaging 1.00
R9686:Pcnx2 UTSW 8 125,866,027 (GRCm38) missense probably benign
R9766:Pcnx2 UTSW 8 125,761,574 (GRCm38) missense probably damaging 1.00
R9778:Pcnx2 UTSW 8 125,785,437 (GRCm38) missense probably benign 0.00
R9792:Pcnx2 UTSW 8 125,808,081 (GRCm38) missense probably damaging 0.99
RF018:Pcnx2 UTSW 8 125,877,519 (GRCm38) missense probably damaging 1.00
Z1088:Pcnx2 UTSW 8 125,866,018 (GRCm38) missense probably damaging 1.00
Z1088:Pcnx2 UTSW 8 125,826,928 (GRCm38) missense probably damaging 1.00
Z1176:Pcnx2 UTSW 8 125,838,014 (GRCm38) missense probably benign 0.30
Z1176:Pcnx2 UTSW 8 125,761,654 (GRCm38) missense probably damaging 1.00
Z1177:Pcnx2 UTSW 8 125,887,960 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGTGGAAGCAGAACTGAGTGC -3'
(R):5'- CTCACTCTGAGGTATTATACGTCCC -3'

Sequencing Primer
(F):5'- AGAACTGAGTGCTCACTGC -3'
(R):5'- GAGGTATTATACGTCCCCACAGATG -3'
Posted On 2014-10-15