Incidental Mutation 'R7196:Pcnx1'
ID 568660
Institutional Source Beutler Lab
Gene Symbol Pcnx1
Ensembl Gene ENSMUSG00000021140
Gene Name pecanex 1
Synonyms 3526401J03Rik, 2900024E21Rik, Pcnx
MMRRC Submission 045275-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7196 (G1)
Quality Score 203.009
Status Validated
Chromosome 12
Chromosomal Location 81906797-82047698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 82042312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 34 (R34H)
Ref Sequence ENSEMBL: ENSMUSP00000152168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021567] [ENSMUST00000221721] [ENSMUST00000222005] [ENSMUST00000222468]
AlphaFold Q9QYC1
Predicted Effect probably benign
Transcript: ENSMUST00000021567
SMART Domains Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140

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: ENSMUST00000221675
Predicted Effect probably benign
Transcript: ENSMUST00000221721
Predicted Effect probably benign
Transcript: ENSMUST00000222005
Predicted Effect possibly damaging
Transcript: ENSMUST00000222468
AA Change: R34H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 99% (94/95)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik AGCTTCCCTGCTT AGCTT 9: 57,165,505 (GRCm39) probably null Het
4921504E06Rik A C 2: 19,498,806 (GRCm39) S396A probably benign Het
Actr6 C A 10: 89,550,784 (GRCm39) V337F possibly damaging Het
Agtpbp1 T C 13: 59,680,994 (GRCm39) T73A possibly damaging Het
AI182371 A T 2: 34,976,441 (GRCm39) probably null Het
Apob A G 12: 8,033,893 (GRCm39) E202G possibly damaging Het
Asb4 A T 6: 5,423,356 (GRCm39) M168L probably benign Het
AU018091 T C 7: 3,213,788 (GRCm39) Y152C probably damaging Het
Casp3 G A 8: 47,088,498 (GRCm39) G132R possibly damaging Het
Cbfa2t3 C A 8: 123,365,729 (GRCm39) A229S probably benign Het
Cdh23 A T 10: 60,143,759 (GRCm39) Y2949N probably damaging Het
Ceacam3 T C 7: 16,888,881 (GRCm39) Y217H Het
Cldn5 A T 16: 18,595,630 (GRCm39) probably benign Het
Cltc T C 11: 86,597,657 (GRCm39) D1093G probably damaging Het
Cnn3 G A 3: 121,248,437 (GRCm39) probably null Het
Col4a2 A G 8: 11,448,693 (GRCm39) Y71C probably damaging Het
Csf1 T C 3: 107,661,214 (GRCm39) D77G possibly damaging Het
Cyp2j7 T A 4: 96,103,651 (GRCm39) T295S probably benign Het
Dnah7a A T 1: 53,724,000 (GRCm39) M133K probably benign Het
Dock5 G A 14: 67,993,919 (GRCm39) P1852L probably damaging Het
Dpysl3 T A 18: 43,462,910 (GRCm39) D489V probably damaging Het
Dsg4 T C 18: 20,599,537 (GRCm39) Y718H probably damaging Het
Dync2h1 G A 9: 7,147,715 (GRCm39) Q972* probably null Het
Epn1 G A 7: 5,096,380 (GRCm39) D225N possibly damaging Het
Esp4 A G 17: 40,913,256 (GRCm39) E41G probably benign Het
Fam171a2 T C 11: 102,329,172 (GRCm39) D529G probably benign Het
Fbxl13 A T 5: 21,691,301 (GRCm39) I694N probably damaging Het
Fshr C T 17: 89,292,897 (GRCm39) A594T probably damaging Het
Galnt3 A G 2: 65,921,268 (GRCm39) Y533H probably damaging Het
Gja5 C A 3: 96,958,422 (GRCm39) R160S probably damaging Het
Gm12353 A T 4: 19,608,938 (GRCm39) D7V unknown Het
Gm17669 T C 18: 67,695,572 (GRCm39) F39S probably damaging Het
Gm7145 T A 1: 117,913,791 (GRCm39) N224K possibly damaging Het
Gpd1 G T 15: 99,619,936 (GRCm39) G245C probably benign Het
Gpr4 G A 7: 18,957,089 (GRCm39) G337D probably benign Het
Hgd G A 16: 37,409,078 (GRCm39) C14Y probably benign Het
Ibtk A T 9: 85,625,709 (GRCm39) S14T probably damaging Het
Ifi205 G T 1: 173,854,109 (GRCm39) N181K probably damaging Het
Inppl1 G A 7: 101,477,993 (GRCm39) A673V probably benign Het
Itgb3 C A 11: 104,524,438 (GRCm39) Y191* probably null Het
Jrkl G T 9: 13,244,162 (GRCm39) P500T probably benign Het
Kcnq1 G A 7: 142,912,478 (GRCm39) V515I possibly damaging Het
Kifc3 A G 8: 95,833,239 (GRCm39) V453A probably benign Het
Krt10 C T 11: 99,278,371 (GRCm39) E263K probably damaging Het
Lingo1 A T 9: 56,527,903 (GRCm39) F235I probably damaging Het
Lmo7 T A 14: 102,133,936 (GRCm39) D660E possibly damaging Het
Magi3 A C 3: 103,956,484 (GRCm39) C661W probably benign Het
Mmp1a C T 9: 7,476,018 (GRCm39) Q428* probably null Het
Msrb1 A T 17: 24,958,556 (GRCm39) T47S probably benign Het
Naip6 A T 13: 100,436,666 (GRCm39) I619K probably benign Het
Ndfip2 T C 14: 105,535,472 (GRCm39) S253P probably damaging Het
Nebl A T 2: 17,457,329 (GRCm39) V77E probably damaging Het
Nit1 T C 1: 171,172,003 (GRCm39) E65G probably benign Het
Ntn4 C T 10: 93,569,576 (GRCm39) H430Y probably benign Het
Nxpe5 A T 5: 138,237,586 (GRCm39) I49F probably benign Het
Or10a2 A G 7: 106,673,935 (GRCm39) N300S probably benign Het
Or10c1 A G 17: 37,522,084 (GRCm39) I220T probably damaging Het
Or14c46 A T 7: 85,918,649 (GRCm39) M116K probably damaging Het
Or1e23 A G 11: 73,407,957 (GRCm39) Y23H probably benign Het
Or1m1 A T 9: 18,666,886 (GRCm39) L15* probably null Het
Or4k49 T G 2: 111,495,042 (GRCm39) L157W probably damaging Het
Or52s6 A T 7: 103,092,204 (GRCm39) M42K probably benign Het
Or7e178 A G 9: 20,225,494 (GRCm39) Y241H probably benign Het
Oxct2a T A 4: 123,217,165 (GRCm39) N72I probably damaging Het
Pappa G A 4: 65,242,128 (GRCm39) probably null Het
Plekha5 G T 6: 140,489,648 (GRCm39) V236L possibly damaging Het
Prdm1 A G 10: 44,332,988 (GRCm39) S44P probably benign Het
Prss46 T A 9: 110,680,533 (GRCm39) L226Q probably benign Het
Prss47 C A 13: 65,192,640 (GRCm39) W380C probably benign Het
Ptch2 T G 4: 116,971,946 (GRCm39) V1156G probably benign Het
Rab3gap2 T C 1: 185,013,864 (GRCm39) F1190S probably damaging Het
Raver2 T G 4: 100,960,056 (GRCm39) Y179D probably damaging Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Ripor2 T G 13: 24,888,808 (GRCm39) I629S possibly damaging Het
Robo4 T A 9: 37,314,001 (GRCm39) M84K possibly damaging Het
Rps6ka5 A T 12: 100,562,123 (GRCm39) S252T possibly damaging Het
Rtl1 C T 12: 109,559,221 (GRCm39) V873M possibly damaging Het
Sla T A 15: 66,703,420 (GRCm39) R4W probably benign Het
Smco1 A G 16: 32,092,620 (GRCm39) D97G probably damaging Het
Srgap1 T C 10: 121,676,753 (GRCm39) T414A probably benign Het
Syt14 A G 1: 192,717,936 (GRCm39) I3T probably benign Het
Tnpo2 G A 8: 85,773,766 (GRCm39) V303M possibly damaging Het
Tstd2 A C 4: 46,119,955 (GRCm39) S332R probably damaging Het
Ttn C A 2: 76,582,386 (GRCm39) A22836S possibly damaging Het
Ufl1 A G 4: 25,250,669 (GRCm39) V728A probably benign Het
Usp33 A T 3: 152,089,828 (GRCm39) K789N possibly damaging Het
Usp54 T A 14: 20,638,438 (GRCm39) Q214L probably damaging Het
Vmn2r7 T G 3: 64,623,198 (GRCm39) N374T probably benign Het
Zbtb7a T A 10: 80,980,434 (GRCm39) N209K probably damaging Het
Zc3hav1 A G 6: 38,306,207 (GRCm39) V615A probably benign Het
Zdhhc20 A G 14: 58,111,348 (GRCm39) probably null Het
Zfp90 G T 8: 107,151,780 (GRCm39) V498L 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
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
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'- GTGATTTACAGAGTCCAGGTGAG -3'
(R):5'- ACACATGAGGATCACTGCCAG -3'

Sequencing Primer
(F):5'- ATTTACAGAGTCCAGGTGAGTAGGTC -3'
(R):5'- GAGGATCACTGCCAGCTCATTTC -3'
Posted On 2019-09-06