Incidental Mutation 'R1774:Pcnx1'
ID 196956
Institutional Source Beutler Lab
Gene Symbol Pcnx1
Ensembl Gene ENSMUSG00000021140
Gene Name pecanex 1
Synonyms 3526401J03Rik, 2900024E21Rik, Pcnx
MMRRC Submission 039805-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1774 (G1)
Quality Score 192
Status Not validated
Chromosome 12
Chromosomal Location 81906797-82047698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82022094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1475 (F1475S)
Ref Sequence ENSEMBL: ENSMUSP00000021567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021567] [ENSMUST00000221721] [ENSMUST00000222005]
AlphaFold Q9QYC1
Predicted Effect probably damaging
Transcript: ENSMUST00000021567
AA Change: F1475S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: F1475S

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: F836S
Predicted Effect probably damaging
Transcript: ENSMUST00000221721
AA Change: F1469S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000222005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222908
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.0%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T C 5: 144,982,351 (GRCm39) V312A probably damaging Het
2810408A11Rik A G 11: 69,791,453 (GRCm39) V42A probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Angpt1 T A 15: 42,387,012 (GRCm39) Q114L probably damaging Het
Apc2 T C 10: 80,144,964 (GRCm39) I625T probably damaging Het
Atg2a T C 19: 6,300,628 (GRCm39) V735A probably benign Het
Birc6 T A 17: 74,947,008 (GRCm39) I2909N probably damaging Het
C7 C G 15: 5,041,557 (GRCm39) D450H probably damaging Het
Cachd1 C T 4: 100,821,632 (GRCm39) T403I probably damaging Het
Cachd1 T A 4: 100,824,240 (GRCm39) F560L probably benign Het
Cacna2d2 A T 9: 107,403,350 (GRCm39) Y944F probably benign Het
Cdkal1 C T 13: 30,034,031 (GRCm39) D21N probably damaging Het
Col18a1 T C 10: 76,895,815 (GRCm39) R901G probably damaging Het
Col27a1 C T 4: 63,143,950 (GRCm39) P546L probably damaging Het
Cps1 C T 1: 67,210,041 (GRCm39) R624W possibly damaging Het
Cyp11a1 A T 9: 57,925,643 (GRCm39) I93F probably benign Het
Cyp2c40 G C 19: 39,775,250 (GRCm39) T334R probably damaging Het
Cyp4f37 A G 17: 32,848,864 (GRCm39) D244G possibly damaging Het
D630003M21Rik A T 2: 158,062,390 (GRCm39) D43E probably damaging Het
Ep400 C A 5: 110,833,357 (GRCm39) C1955F unknown Het
Ethe1 G A 7: 24,293,371 (GRCm39) V6I probably benign Het
F5 C A 1: 164,020,104 (GRCm39) Q860K probably benign Het
Fasn T C 11: 120,707,997 (GRCm39) Y685C probably damaging Het
Gga2 T G 7: 121,611,444 (GRCm39) D38A probably damaging Het
Gm43302 T A 5: 105,423,660 (GRCm39) I438F probably benign Het
Grm1 T A 10: 10,955,610 (GRCm39) T225S possibly damaging Het
Hic2 G T 16: 17,076,511 (GRCm39) V447L probably damaging Het
Hsf2 G A 10: 57,388,242 (GRCm39) C462Y probably damaging Het
Ice1 T C 13: 70,752,672 (GRCm39) D1138G probably damaging Het
Il6 A G 5: 30,224,433 (GRCm39) T158A probably benign Het
Inpp5d T A 1: 87,595,611 (GRCm39) V120E probably benign Het
Iqca1 T C 1: 90,008,625 (GRCm39) N456S probably benign Het
Itgal T A 7: 126,908,794 (GRCm39) probably null Het
Lrrc66 G C 5: 73,768,198 (GRCm39) Q248E probably benign Het
Lrrc7 T A 3: 157,865,929 (GRCm39) M1271L possibly damaging Het
Lrrc74a T C 12: 86,795,827 (GRCm39) S267P probably damaging Het
Map2 T C 1: 66,453,233 (GRCm39) S550P probably damaging Het
Mapk8ip3 A T 17: 25,143,119 (GRCm39) probably null Het
Mdm4 A C 1: 132,924,384 (GRCm39) S246A probably damaging Het
Med23 A G 10: 24,779,584 (GRCm39) E887G probably damaging Het
Mta1 C T 12: 113,091,659 (GRCm39) A254V probably damaging Het
Myh2 A G 11: 67,064,300 (GRCm39) Y85C possibly damaging Het
Myo1g A G 11: 6,465,988 (GRCm39) Y366H probably damaging Het
Nalcn G A 14: 123,515,678 (GRCm39) P1708S probably benign Het
Nlrp9c A T 7: 26,093,543 (GRCm39) S41T probably benign Het
Nptx2 T A 5: 144,490,248 (GRCm39) S226T possibly damaging Het
Nup85 T A 11: 115,473,771 (GRCm39) S562T probably benign Het
Nxpe5 T C 5: 138,237,797 (GRCm39) V107A probably benign Het
Obi1 A G 14: 104,717,098 (GRCm39) V425A possibly damaging Het
Oga T C 19: 45,765,423 (GRCm39) E128G probably benign Het
Or10ac1 A T 6: 42,515,453 (GRCm39) F168I probably damaging Het
Or10al7 A G 17: 38,366,328 (GRCm39) V43A probably benign Het
Or13c3 T A 4: 52,855,674 (GRCm39) I280F probably benign Het
Or6p1 A G 1: 174,258,905 (GRCm39) T304A probably benign Het
Pcdhb12 C T 18: 37,569,495 (GRCm39) P214S possibly damaging Het
Pcdhb5 T A 18: 37,455,725 (GRCm39) F702I probably damaging Het
Pde5a C A 3: 122,523,013 (GRCm39) T40N probably benign Het
Pnpla2 T A 7: 141,039,481 (GRCm39) V398E probably damaging Het
Pramel19 G A 4: 101,797,655 (GRCm39) V18M probably benign Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rab20 T C 8: 11,504,223 (GRCm39) K159R probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rgs12 T A 5: 35,123,747 (GRCm39) V510D probably benign Het
Slamf6 T C 1: 171,770,154 (GRCm39) probably benign Het
Slc27a5 A T 7: 12,731,534 (GRCm39) C23* probably null Het
Slc35e2 T C 4: 155,694,621 (GRCm39) V56A possibly damaging Het
Slx4ip T C 2: 136,909,643 (GRCm39) S143P probably damaging Het
Stat5a C T 11: 100,770,112 (GRCm39) S463F probably damaging Het
Svep1 T C 4: 58,146,562 (GRCm39) D360G possibly damaging Het
Tas2r143 A T 6: 42,377,305 (GRCm39) D45V probably damaging Het
Tdrd5 G T 1: 156,105,079 (GRCm39) R516S probably damaging Het
Thy1 A G 9: 43,958,636 (GRCm39) D126G probably benign Het
Tspear C T 10: 77,709,019 (GRCm39) T415I probably benign Het
Ttll5 C A 12: 85,980,176 (GRCm39) T920K probably benign Het
Tut4 T C 4: 108,365,152 (GRCm39) F542L probably damaging Het
Umod T C 7: 119,076,574 (GRCm39) E64G possibly damaging Het
Usf3 A G 16: 44,036,033 (GRCm39) N171S probably damaging Het
Vmn1r23 T A 6: 57,903,675 (GRCm39) R34S probably damaging Het
Wasf1 C G 10: 40,810,475 (GRCm39) P239R possibly damaging Het
Wdr95 C T 5: 149,487,857 (GRCm39) R164* probably null Het
Zan C A 5: 137,418,251 (GRCm39) C2949F unknown Het
Zbed4 T C 15: 88,665,080 (GRCm39) S383P probably benign Het
Zfand5 T A 19: 21,253,895 (GRCm39) C33S probably damaging Het
Zfp12 A G 5: 143,230,984 (GRCm39) Y437C probably damaging Het
Zfp451 A C 1: 33,852,849 (GRCm39) S22A 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
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
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'- GCTGGCAGTAGCAGTAATGCTGTG -3'
(R):5'- AGAATAGGGCAACGGTCCTCCAAG -3'

Sequencing Primer
(F):5'- TGGGAAAATGACTTCAGTGCC -3'
(R):5'- AGCCTGAGAGGCTTTGC -3'
Posted On 2014-05-23