Incidental Mutation 'R5287:Pcnx1'
ID 424424
Institutional Source Beutler Lab
Gene Symbol Pcnx1
Ensembl Gene ENSMUSG00000021140
Gene Name pecanex 1
Synonyms 3526401J03Rik, 2900024E21Rik, Pcnx
MMRRC Submission 042871-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5287 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 81906797-82047698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82028825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1668 (Y1668F)
Ref Sequence ENSEMBL: ENSMUSP00000152104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021567] [ENSMUST00000221721] [ENSMUST00000222005]
AlphaFold Q9QYC1
Predicted Effect probably damaging
Transcript: ENSMUST00000021567
AA Change: Y1674F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: Y1674F

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 unknown
Transcript: ENSMUST00000221675
AA Change: Y1035F
Predicted Effect probably damaging
Transcript: ENSMUST00000221721
AA Change: Y1668F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000222005
Meta Mutation Damage Score 0.2121 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T C 2: 93,666,298 (GRCm39) D463G probably damaging Het
Acsbg3 G T 17: 57,183,221 (GRCm39) probably benign Het
Adcy8 C T 15: 64,588,001 (GRCm39) V929I probably benign Het
Anp32a A T 9: 62,249,275 (GRCm39) I16F possibly damaging Het
Arpin T C 7: 79,577,997 (GRCm39) E144G probably damaging Het
Asb18 T C 1: 89,942,110 (GRCm39) T64A probably benign Het
Asxl2 A G 12: 3,546,893 (GRCm39) N559S probably benign Het
Brd7 G T 8: 89,084,169 (GRCm39) Q148K probably damaging Het
Brinp1 A G 4: 68,711,201 (GRCm39) W336R probably benign Het
Btnl9 A G 11: 49,060,434 (GRCm39) V438A probably benign Het
Cat T C 2: 103,304,705 (GRCm39) T107A probably damaging Het
Catsperg2 T C 7: 29,397,263 (GRCm39) Y1080C possibly damaging Het
Ccdc138 T A 10: 58,411,527 (GRCm39) F632I possibly damaging Het
Cd46 C T 1: 194,744,719 (GRCm39) V340I possibly damaging Het
Celf1 T C 2: 90,839,552 (GRCm39) S326P possibly damaging Het
Ces1e T G 8: 93,935,240 (GRCm39) D404A probably benign Het
Chd3 A T 11: 69,239,895 (GRCm39) probably null Het
Clhc1 A G 11: 29,528,244 (GRCm39) probably benign Het
Cops8 C T 1: 90,534,342 (GRCm39) probably benign Het
Cpox G A 16: 58,495,649 (GRCm39) G322D probably damaging Het
Csmd2 C T 4: 128,380,677 (GRCm39) R2078C probably benign Het
Dnm1l A C 16: 16,151,732 (GRCm39) V240G probably damaging Het
Fezf1 C T 6: 23,248,010 (GRCm39) V22M probably benign Het
Gm6818 T G 7: 38,099,911 (GRCm39) noncoding transcript Het
Hand2 C T 8: 57,775,080 (GRCm39) L47F probably damaging Het
Insyn2b A T 11: 34,353,058 (GRCm39) T367S probably benign Het
Itga7 C A 10: 128,779,027 (GRCm39) R351S probably benign Het
Mmp8 G T 9: 7,567,507 (GRCm39) A456S probably benign Het
Mroh5 TGGAG TG 15: 73,654,923 (GRCm39) probably benign Het
Opn4 T C 14: 34,314,894 (GRCm39) T460A probably benign Het
Or6b2 A T 1: 92,408,019 (GRCm39) V108E possibly damaging Het
Otog T C 7: 45,918,753 (GRCm39) F943S probably damaging Het
Pheta1 A G 5: 121,990,794 (GRCm39) E52G possibly damaging Het
Phf24 A T 4: 42,933,831 (GRCm39) probably null Het
Phkg2 GCTGCCGGACGAGTGGCCT GCT 7: 127,181,929 (GRCm39) probably null Het
Ppargc1a G A 5: 51,620,167 (GRCm39) probably benign Het
Ptprd G A 4: 75,872,405 (GRCm39) R1355* probably null Het
Ptprn2 A T 12: 117,175,482 (GRCm39) M721L probably damaging Het
Sec23ip A G 7: 128,367,860 (GRCm39) E624G probably benign Het
Sfmbt1 G A 14: 30,538,777 (GRCm39) V799M probably damaging Het
Snrnp200 T C 2: 127,073,607 (GRCm39) V1335A probably benign Het
Sp140 G A 1: 85,538,545 (GRCm39) probably null Het
Spdye4c T C 2: 128,434,560 (GRCm39) S46P possibly damaging Het
Syde1 T C 10: 78,425,871 (GRCm39) R99G probably benign Het
T2 A T 17: 8,636,835 (GRCm39) M57L probably benign Het
Tasor2 G A 13: 3,625,744 (GRCm39) S1402L probably benign Het
Tfap2e T C 4: 126,628,439 (GRCm39) I172M probably benign Het
Tk1 A T 11: 117,707,367 (GRCm39) V140E probably damaging Het
Tln2 G A 9: 67,149,641 (GRCm39) T1192M probably damaging Het
Tmed8 C A 12: 87,220,957 (GRCm39) A210S probably damaging Het
Tnip2 A G 5: 34,671,108 (GRCm39) L45P probably damaging Het
Ttc3 T C 16: 94,260,703 (GRCm39) V1396A probably benign Het
Ttn G T 2: 76,562,436 (GRCm39) S28803Y probably damaging Het
Wdr90 A T 17: 26,080,441 (GRCm39) probably benign Het
Zfp7 G A 15: 76,775,422 (GRCm39) R488Q probably damaging 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
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
R5642:Pcnx1 UTSW 12 81,941,803 (GRCm39) missense possibly damaging 0.45
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'- AGTACACATTCTTCCCCAGTTACTG -3'
(R):5'- TGGCAACAGATACATGGACCAG -3'

Sequencing Primer
(F):5'- TGCCCTTGTCTGTAATAGTCTTG -3'
(R):5'- GAAATAGCAATGTGTGTGTCCCC -3'
Posted On 2016-08-04