Incidental Mutation 'R5642:Pcnx1'
ID 440778
Institutional Source Beutler Lab
Gene Symbol Pcnx1
Ensembl Gene ENSMUSG00000021140
Gene Name pecanex 1
Synonyms 3526401J03Rik, 2900024E21Rik, Pcnx
MMRRC Submission 043290-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5642 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 81906797-82047698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81941803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 67 (V67A)
Ref Sequence ENSEMBL: ENSMUSP00000152302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021567] [ENSMUST00000221721] [ENSMUST00000222005]
AlphaFold Q9QYC1
Predicted Effect probably benign
Transcript: ENSMUST00000021567
AA Change: V67A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: V67A

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
transmembrane domain 52 74 N/A INTRINSIC
low complexity region 369 390 N/A INTRINSIC
low complexity region 407 422 N/A INTRINSIC
low complexity region 509 525 N/A INTRINSIC
low complexity region 616 638 N/A INTRINSIC
low complexity region 672 692 N/A INTRINSIC
low complexity region 764 783 N/A INTRINSIC
low complexity region 817 835 N/A INTRINSIC
low complexity region 842 853 N/A INTRINSIC
low complexity region 911 922 N/A INTRINSIC
transmembrane domain 1006 1028 N/A INTRINSIC
transmembrane domain 1035 1052 N/A INTRINSIC
transmembrane domain 1070 1092 N/A INTRINSIC
transmembrane domain 1113 1135 N/A INTRINSIC
transmembrane domain 1163 1185 N/A INTRINSIC
transmembrane domain 1197 1216 N/A INTRINSIC
transmembrane domain 1269 1291 N/A INTRINSIC
transmembrane domain 1298 1315 N/A INTRINSIC
Pfam:Pecanex_C 1785 2011 1.6e-118 PFAM
low complexity region 2125 2140 N/A INTRINSIC
low complexity region 2195 2202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221721
AA Change: V67A

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000222005
AA Change: V67A

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,261,319 (GRCm39) E699G probably damaging Het
Ap4e1 T A 2: 126,906,899 (GRCm39) V1053D possibly damaging Het
Apobec1 T A 6: 122,558,456 (GRCm39) I100F probably damaging Het
Atp6v1g3 G T 1: 138,211,480 (GRCm39) K53N probably damaging Het
Bag3 C T 7: 128,147,830 (GRCm39) R482W probably damaging Het
Brme1 C T 8: 84,894,114 (GRCm39) T427I probably damaging Het
Cacna1i A G 15: 80,279,279 (GRCm39) T2007A possibly damaging Het
Cd44 T C 2: 102,731,687 (GRCm39) D2G probably damaging Het
Cdadc1 T A 14: 59,827,372 (GRCm39) I100F possibly damaging Het
Cdh16 A G 8: 105,344,677 (GRCm39) F485L probably damaging Het
Cdhr5 T A 7: 140,849,110 (GRCm39) K817* probably null Het
Cfap46 G T 7: 139,258,493 (GRCm39) P260Q probably damaging Het
Clec11a C T 7: 43,955,832 (GRCm39) E72K possibly damaging Het
Cnr2 C A 4: 135,644,076 (GRCm39) N51K probably damaging Het
Col3a1 T A 1: 45,370,872 (GRCm39) probably benign Het
Cxcr1 G A 1: 74,230,987 (GRCm39) T345M probably damaging Het
Cyp2s1 T C 7: 25,515,744 (GRCm39) probably null Het
Dalrd3 C T 9: 108,449,489 (GRCm39) T474M probably damaging Het
Ddit4 C T 10: 59,787,327 (GRCm39) S3N probably benign Het
Ddx41 T C 13: 55,683,708 (GRCm39) K108E possibly damaging Het
Dnaaf10 A G 11: 17,177,263 (GRCm39) N207S possibly damaging Het
Ece2 A T 16: 20,462,477 (GRCm39) H732L probably benign Het
Etv3 T G 3: 87,443,322 (GRCm39) L302R possibly damaging Het
Fam135b A G 15: 71,333,985 (GRCm39) S1070P probably damaging Het
Fhip1b A T 7: 105,039,089 (GRCm39) I50N probably damaging Het
Gm11567 T A 11: 99,770,437 (GRCm39) I125N unknown Het
Grm3 A G 5: 9,620,536 (GRCm39) L236P probably benign Het
Hip1 T A 5: 135,461,939 (GRCm39) R97* probably null Het
Hoxa5 T C 6: 52,181,197 (GRCm39) Y45C probably damaging Het
Ighg1 T A 12: 113,292,654 (GRCm39) H305L probably damaging Het
Inpp5b T A 4: 124,676,229 (GRCm39) C362S probably benign Het
Kif1c A G 11: 70,599,273 (GRCm39) K391E probably benign Het
Klf9 T C 19: 23,119,246 (GRCm39) V43A probably benign Het
Krt28 T A 11: 99,265,320 (GRCm39) I116F probably damaging Het
Lct A T 1: 128,222,969 (GRCm39) D1439E probably damaging Het
Liph G A 16: 21,784,745 (GRCm39) T284M possibly damaging Het
Lrrc75b T C 10: 75,393,055 (GRCm39) K98R possibly damaging Het
Lypd4 T C 7: 24,564,604 (GRCm39) Q178R probably benign Het
Map1a T A 2: 121,136,524 (GRCm39) S2209T probably damaging Het
Map3k21 C T 8: 126,665,563 (GRCm39) T584I probably benign Het
Map3k6 T C 4: 132,972,855 (GRCm39) V338A probably damaging Het
Mapk8ip3 A T 17: 25,122,285 (GRCm39) V699E possibly damaging Het
Mtarc1 A C 1: 184,543,116 (GRCm39) S71A probably damaging Het
Nckap1l T C 15: 103,363,452 (GRCm39) S53P probably benign Het
Nt5e T C 9: 88,209,740 (GRCm39) M1T probably null Het
Nudt22 T C 19: 6,972,896 (GRCm39) H64R probably damaging Het
Or1o11 A T 17: 37,756,663 (GRCm39) T84S probably damaging Het
Or2t44 A T 11: 58,677,654 (GRCm39) Y198F probably damaging Het
Or2w3 T C 11: 58,557,225 (GRCm39) I280T possibly damaging Het
Or52b1 A T 7: 104,978,772 (GRCm39) V209D probably damaging Het
Or5ac16 A G 16: 59,022,369 (GRCm39) L140P probably damaging Het
Or8k17 T C 2: 86,066,276 (GRCm39) N294S probably damaging Het
Otogl T C 10: 107,722,413 (GRCm39) I314V probably benign Het
Pan2 G T 10: 128,143,969 (GRCm39) E106D probably benign Het
Papss1 T A 3: 131,337,565 (GRCm39) Y554* probably null Het
Pdpk1 A C 17: 24,325,829 (GRCm39) Y122* probably null Het
Pkd1l1 A T 11: 8,829,202 (GRCm39) N1463K probably damaging Het
Ptgfrn C A 3: 100,950,678 (GRCm39) M878I probably damaging Het
Ranbp3 G A 17: 57,017,703 (GRCm39) G453E probably benign Het
Rapgef2 T C 3: 79,002,157 (GRCm39) D261G probably damaging Het
Reep2 A G 18: 34,979,271 (GRCm39) S199G probably benign Het
Rnpep G A 1: 135,205,259 (GRCm39) T202I probably damaging Het
Sass6 T A 3: 116,401,145 (GRCm39) probably null Het
Sema3e A G 5: 14,212,257 (GRCm39) D111G probably damaging Het
Slc29a4 A G 5: 142,697,727 (GRCm39) E60G probably damaging Het
Spata31g1 T C 4: 42,971,831 (GRCm39) L388P possibly damaging Het
Spata31h1 T A 10: 82,120,317 (GRCm39) Q4231L probably damaging Het
Sptlc3 T C 2: 139,388,328 (GRCm39) Y107H probably damaging Het
Stx6 T C 1: 155,073,925 (GRCm39) I245T probably benign Het
Syne2 T C 12: 75,965,306 (GRCm39) S774P probably damaging Het
Tbc1d16 T A 11: 119,049,617 (GRCm39) Q293L probably damaging Het
Tbc1d30 T C 10: 121,132,692 (GRCm39) D224G probably damaging Het
Tbc1d32 T A 10: 56,026,973 (GRCm39) N759Y possibly damaging Het
Tdrd12 G T 7: 35,210,725 (GRCm39) A166E probably damaging Het
Tex14 A G 11: 87,405,046 (GRCm39) R653G probably benign Het
Them6 A T 15: 74,593,654 (GRCm39) R171W probably null Het
Tln2 T C 9: 67,203,640 (GRCm39) T489A probably benign Het
Tmem87a A G 2: 120,234,427 (GRCm39) F39L probably benign Het
Toporsl T A 4: 52,611,515 (GRCm39) C469* probably null Het
Tpr T C 1: 150,299,569 (GRCm39) S1147P probably damaging Het
Trp53bp1 T C 2: 121,067,143 (GRCm39) M528V probably benign Het
Trpm6 T A 19: 18,807,571 (GRCm39) C1039S probably damaging Het
Ttc16 T A 2: 32,665,348 (GRCm39) S5C probably damaging Het
Ttn T C 2: 76,617,412 (GRCm39) Y14607C probably damaging Het
Usp6nl T C 2: 6,435,275 (GRCm39) F345L probably damaging Het
Vmn1r205 C T 13: 22,776,206 (GRCm39) G299R probably benign Het
Vmn2r74 G A 7: 85,606,588 (GRCm39) H253Y probably benign Het
Vps13d A T 4: 144,896,872 (GRCm39) D343E possibly damaging Het
Vwf A G 6: 125,580,381 (GRCm39) E543G Het
Zfat A T 15: 68,052,765 (GRCm39) V343E probably damaging Het
Zfp316 T C 5: 143,249,846 (GRCm39) E139G unknown Het
Zfp943 T A 17: 22,211,813 (GRCm39) C300S probably damaging Het
Zkscan16 A G 4: 58,957,748 (GRCm39) K677E probably benign Het
Other mutations in Pcnx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Pcnx1 APN 12 81,941,875 (GRCm39) missense probably damaging 0.98
IGL00561:Pcnx1 APN 12 82,042,827 (GRCm39) missense probably damaging 1.00
IGL01066:Pcnx1 APN 12 82,038,795 (GRCm39) missense possibly damaging 0.87
IGL01069:Pcnx1 APN 12 81,964,918 (GRCm39) missense probably benign 0.27
IGL01082:Pcnx1 APN 12 82,037,372 (GRCm39) missense possibly damaging 0.62
IGL01087:Pcnx1 APN 12 82,042,113 (GRCm39) splice site probably benign
IGL01145:Pcnx1 APN 12 82,038,809 (GRCm39) missense probably damaging 0.99
IGL01412:Pcnx1 APN 12 81,953,239 (GRCm39) missense probably damaging 1.00
IGL01477:Pcnx1 APN 12 82,020,015 (GRCm39) missense probably damaging 0.98
IGL01639:Pcnx1 APN 12 81,997,094 (GRCm39) critical splice donor site probably null
IGL01815:Pcnx1 APN 12 82,037,325 (GRCm39) missense probably damaging 1.00
IGL01870:Pcnx1 APN 12 82,022,667 (GRCm39) missense probably benign 0.01
IGL01902:Pcnx1 APN 12 82,025,868 (GRCm39) missense probably damaging 1.00
IGL01935:Pcnx1 APN 12 81,964,590 (GRCm39) missense probably benign 0.00
IGL02141:Pcnx1 APN 12 81,907,156 (GRCm39) missense possibly damaging 0.86
IGL02179:Pcnx1 APN 12 81,980,493 (GRCm39) intron probably benign
IGL02197:Pcnx1 APN 12 82,039,925 (GRCm39) missense possibly damaging 0.85
IGL02197:Pcnx1 APN 12 81,965,878 (GRCm39) missense probably benign 0.01
IGL02238:Pcnx1 APN 12 81,964,688 (GRCm39) missense probably damaging 1.00
IGL02430:Pcnx1 APN 12 81,966,096 (GRCm39) missense possibly damaging 0.89
IGL02590:Pcnx1 APN 12 82,041,752 (GRCm39) missense probably damaging 1.00
IGL02992:Pcnx1 APN 12 82,010,894 (GRCm39) missense probably damaging 1.00
IGL03304:Pcnx1 APN 12 82,028,803 (GRCm39) missense probably damaging 1.00
PIT4515001:Pcnx1 UTSW 12 82,038,561 (GRCm39) missense
R0086:Pcnx1 UTSW 12 82,038,832 (GRCm39) unclassified probably benign
R0114:Pcnx1 UTSW 12 82,042,869 (GRCm39) missense possibly damaging 0.95
R0240:Pcnx1 UTSW 12 81,993,792 (GRCm39) missense possibly damaging 0.67
R0240:Pcnx1 UTSW 12 81,993,792 (GRCm39) missense possibly damaging 0.67
R0376:Pcnx1 UTSW 12 82,021,353 (GRCm39) splice site probably benign
R0377:Pcnx1 UTSW 12 82,021,353 (GRCm39) splice site probably benign
R0416:Pcnx1 UTSW 12 82,021,240 (GRCm39) missense probably benign 0.09
R0514:Pcnx1 UTSW 12 82,041,884 (GRCm39) missense probably benign 0.21
R0563:Pcnx1 UTSW 12 81,964,718 (GRCm39) missense probably damaging 1.00
R0569:Pcnx1 UTSW 12 82,038,804 (GRCm39) missense probably benign 0.08
R0626:Pcnx1 UTSW 12 82,030,450 (GRCm39) missense possibly damaging 0.82
R0972:Pcnx1 UTSW 12 81,960,186 (GRCm39) missense probably damaging 1.00
R1205:Pcnx1 UTSW 12 82,003,017 (GRCm39) missense probably damaging 1.00
R1455:Pcnx1 UTSW 12 82,020,008 (GRCm39) missense probably damaging 1.00
R1514:Pcnx1 UTSW 12 81,965,572 (GRCm39) missense probably damaging 1.00
R1731:Pcnx1 UTSW 12 82,037,478 (GRCm39) missense probably damaging 1.00
R1758:Pcnx1 UTSW 12 82,030,258 (GRCm39) missense probably benign 0.27
R1774:Pcnx1 UTSW 12 82,022,094 (GRCm39) missense probably damaging 1.00
R1817:Pcnx1 UTSW 12 81,965,416 (GRCm39) missense probably benign
R1843:Pcnx1 UTSW 12 82,027,709 (GRCm39) missense probably damaging 1.00
R1862:Pcnx1 UTSW 12 81,965,506 (GRCm39) missense probably damaging 1.00
R2042:Pcnx1 UTSW 12 81,965,067 (GRCm39) missense probably damaging 1.00
R2054:Pcnx1 UTSW 12 81,980,448 (GRCm39) missense probably benign 0.02
R2243:Pcnx1 UTSW 12 81,965,479 (GRCm39) missense probably damaging 1.00
R2272:Pcnx1 UTSW 12 82,042,088 (GRCm39) missense probably benign 0.26
R2360:Pcnx1 UTSW 12 81,996,960 (GRCm39) missense probably damaging 0.99
R2926:Pcnx1 UTSW 12 82,041,769 (GRCm39) missense probably damaging 1.00
R3607:Pcnx1 UTSW 12 81,975,066 (GRCm39) missense probably damaging 1.00
R3781:Pcnx1 UTSW 12 82,042,892 (GRCm39) missense probably benign 0.00
R3782:Pcnx1 UTSW 12 82,042,892 (GRCm39) missense probably benign 0.00
R3806:Pcnx1 UTSW 12 81,996,911 (GRCm39) missense possibly damaging 0.84
R3926:Pcnx1 UTSW 12 82,005,505 (GRCm39) missense probably damaging 1.00
R4019:Pcnx1 UTSW 12 81,965,018 (GRCm39) missense probably damaging 1.00
R4020:Pcnx1 UTSW 12 81,965,018 (GRCm39) missense probably damaging 1.00
R4683:Pcnx1 UTSW 12 82,033,446 (GRCm39) missense probably benign 0.01
R4703:Pcnx1 UTSW 12 81,941,938 (GRCm39) missense probably benign 0.01
R4732:Pcnx1 UTSW 12 82,042,525 (GRCm39) missense probably benign 0.01
R4733:Pcnx1 UTSW 12 82,042,525 (GRCm39) missense probably benign 0.01
R4755:Pcnx1 UTSW 12 81,997,068 (GRCm39) missense probably damaging 1.00
R4792:Pcnx1 UTSW 12 81,965,925 (GRCm39) missense probably damaging 1.00
R4897:Pcnx1 UTSW 12 81,964,939 (GRCm39) missense probably damaging 1.00
R4915:Pcnx1 UTSW 12 82,021,269 (GRCm39) missense probably benign 0.10
R4934:Pcnx1 UTSW 12 82,038,599 (GRCm39) missense possibly damaging 0.76
R4940:Pcnx1 UTSW 12 81,964,567 (GRCm39) missense possibly damaging 0.60
R5079:Pcnx1 UTSW 12 82,025,863 (GRCm39) nonsense probably null
R5087:Pcnx1 UTSW 12 82,041,713 (GRCm39) missense probably damaging 1.00
R5284:Pcnx1 UTSW 12 81,965,803 (GRCm39) missense probably benign 0.02
R5287:Pcnx1 UTSW 12 82,028,825 (GRCm39) missense probably damaging 1.00
R5436:Pcnx1 UTSW 12 81,907,180 (GRCm39) missense probably damaging 1.00
R5505:Pcnx1 UTSW 12 81,996,927 (GRCm39) missense probably damaging 1.00
R5538:Pcnx1 UTSW 12 81,907,183 (GRCm39) missense probably damaging 1.00
R5632:Pcnx1 UTSW 12 81,964,504 (GRCm39) missense probably damaging 1.00
R5841:Pcnx1 UTSW 12 81,965,429 (GRCm39) missense possibly damaging 0.62
R6275:Pcnx1 UTSW 12 81,965,381 (GRCm39) missense probably benign 0.34
R6508:Pcnx1 UTSW 12 81,959,479 (GRCm39) missense probably damaging 0.98
R6532:Pcnx1 UTSW 12 82,027,738 (GRCm39) missense probably damaging 1.00
R6634:Pcnx1 UTSW 12 81,964,656 (GRCm39) nonsense probably null
R6753:Pcnx1 UTSW 12 82,011,254 (GRCm39) missense probably damaging 1.00
R6776:Pcnx1 UTSW 12 82,009,496 (GRCm39) missense possibly damaging 0.81
R6778:Pcnx1 UTSW 12 81,965,645 (GRCm39) missense probably damaging 1.00
R6890:Pcnx1 UTSW 12 82,018,150 (GRCm39) missense probably benign 0.09
R6894:Pcnx1 UTSW 12 82,034,747 (GRCm39) missense probably damaging 1.00
R6927:Pcnx1 UTSW 12 81,964,586 (GRCm39) missense probably benign 0.37
R7173:Pcnx1 UTSW 12 81,999,777 (GRCm39) splice site probably null
R7196:Pcnx1 UTSW 12 82,042,312 (GRCm39) missense possibly damaging 0.94
R7316:Pcnx1 UTSW 12 82,042,323 (GRCm39) missense probably benign 0.16
R7559:Pcnx1 UTSW 12 82,039,896 (GRCm39) missense unknown
R7635:Pcnx1 UTSW 12 81,965,899 (GRCm39) missense
R7669:Pcnx1 UTSW 12 82,037,325 (GRCm39) missense probably damaging 1.00
R8021:Pcnx1 UTSW 12 81,965,593 (GRCm39) nonsense probably null
R8049:Pcnx1 UTSW 12 81,965,593 (GRCm39) nonsense probably null
R8078:Pcnx1 UTSW 12 82,022,054 (GRCm39) missense
R8093:Pcnx1 UTSW 12 81,965,593 (GRCm39) nonsense probably null
R8104:Pcnx1 UTSW 12 82,030,385 (GRCm39) nonsense probably null
R8108:Pcnx1 UTSW 12 81,965,593 (GRCm39) nonsense probably null
R8109:Pcnx1 UTSW 12 81,965,593 (GRCm39) nonsense probably null
R8131:Pcnx1 UTSW 12 81,965,292 (GRCm39) missense possibly damaging 0.80
R8136:Pcnx1 UTSW 12 81,964,780 (GRCm39) missense probably benign
R8153:Pcnx1 UTSW 12 81,965,593 (GRCm39) nonsense probably null
R8156:Pcnx1 UTSW 12 81,965,593 (GRCm39) nonsense probably null
R8202:Pcnx1 UTSW 12 81,941,821 (GRCm39) missense probably benign 0.00
R8362:Pcnx1 UTSW 12 82,013,830 (GRCm39) missense
R8515:Pcnx1 UTSW 12 82,009,490 (GRCm39) missense possibly damaging 0.83
R8803:Pcnx1 UTSW 12 82,039,925 (GRCm39) missense possibly damaging 0.85
R8820:Pcnx1 UTSW 12 82,020,022 (GRCm39) missense
R8828:Pcnx1 UTSW 12 82,042,597 (GRCm39) missense probably damaging 1.00
R8946:Pcnx1 UTSW 12 82,018,158 (GRCm39) missense probably damaging 0.96
R8964:Pcnx1 UTSW 12 82,039,812 (GRCm39) missense
R9152:Pcnx1 UTSW 12 82,022,589 (GRCm39) missense
R9256:Pcnx1 UTSW 12 82,020,047 (GRCm39) missense
R9287:Pcnx1 UTSW 12 82,042,323 (GRCm39) missense probably benign 0.07
R9289:Pcnx1 UTSW 12 82,028,853 (GRCm39) missense
R9414:Pcnx1 UTSW 12 81,964,978 (GRCm39) missense probably damaging 1.00
R9445:Pcnx1 UTSW 12 81,964,981 (GRCm39) missense probably damaging 0.98
R9595:Pcnx1 UTSW 12 81,965,688 (GRCm39) missense
R9600:Pcnx1 UTSW 12 82,030,435 (GRCm39) missense
R9620:Pcnx1 UTSW 12 81,996,960 (GRCm39) missense probably damaging 0.99
RF024:Pcnx1 UTSW 12 81,964,501 (GRCm39) missense probably damaging 0.98
Z1177:Pcnx1 UTSW 12 81,965,451 (GRCm39) missense
Z1177:Pcnx1 UTSW 12 81,964,976 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGGAGTCCTTTACTTTTGCAGC -3'
(R):5'- CCTTGGACACAGTACTCACATTG -3'

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