Incidental Mutation 'R2272:Pcnx1'
ID 242587
Institutional Source Beutler Lab
Gene Symbol Pcnx1
Ensembl Gene ENSMUSG00000021140
Gene Name pecanex 1
Synonyms 3526401J03Rik, 2900024E21Rik, Pcnx
MMRRC Submission 040272-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2272 (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 82042088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2240 (V2240A)
Ref Sequence ENSEMBL: ENSMUSP00000152104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021567] [ENSMUST00000221721] [ENSMUST00000222005] [ENSMUST00000222468]
AlphaFold Q9QYC1
Predicted Effect probably benign
Transcript: ENSMUST00000021567
AA Change: V2246A

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: V2246A

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 noncoding transcript
Transcript: ENSMUST00000221472
Predicted Effect probably benign
Transcript: ENSMUST00000221675
Predicted Effect probably benign
Transcript: ENSMUST00000221721
AA Change: V2240A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000222005
Predicted Effect probably benign
Transcript: ENSMUST00000222468
AA Change: V26A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223212
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A T 1: 165,337,866 (GRCm39) E160V probably damaging Het
Ago1 C A 4: 126,347,443 (GRCm39) M435I probably benign Het
Apol7b G A 15: 77,307,910 (GRCm39) A195V probably damaging Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Atg2b C T 12: 105,604,267 (GRCm39) V1545I probably benign Het
Atp4a C A 7: 30,414,925 (GRCm39) S238* probably null Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Bmal2 T C 6: 146,723,612 (GRCm39) F314S probably damaging Het
Brinp3 A G 1: 146,777,142 (GRCm39) R530G possibly damaging Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Cracr2a T A 6: 127,584,261 (GRCm39) F107I probably damaging Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Ddc T C 11: 11,785,764 (GRCm39) N308D probably damaging Het
Dnah10 A G 5: 124,808,530 (GRCm39) N195S probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Fmo1 A T 1: 162,661,424 (GRCm39) D286E probably damaging Het
Fmo4 A T 1: 162,626,616 (GRCm39) I310N possibly damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hydin A T 8: 111,035,764 (GRCm39) I152L probably benign Het
Itpr1 T A 6: 108,470,716 (GRCm39) C2214S probably damaging Het
Kcnq3 T A 15: 65,900,529 (GRCm39) D242V probably damaging Het
Klhl1 T C 14: 96,755,344 (GRCm39) D137G probably benign Het
Lama5 T C 2: 179,820,396 (GRCm39) D3282G possibly damaging Het
Lhx8 A G 3: 154,022,399 (GRCm39) L254S probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Matn4 A T 2: 164,239,162 (GRCm39) C232S possibly damaging Het
Mios C T 6: 8,226,865 (GRCm39) R614C possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Mycbp2 T C 14: 103,381,774 (GRCm39) H3612R probably null Het
Myo5b G T 18: 74,866,996 (GRCm39) L1382F probably damaging Het
Myo7b C T 18: 32,110,096 (GRCm39) S1122N probably benign Het
Myo9a T A 9: 59,722,584 (GRCm39) F549I probably damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Neil1 A G 9: 57,054,069 (GRCm39) S84P probably damaging Het
Nfix A G 8: 85,453,804 (GRCm39) I256T probably damaging Het
Nlrp4f A T 13: 65,342,222 (GRCm39) D474E probably benign Het
Or5ac21 T G 16: 59,123,807 (GRCm39) M98R possibly damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Per3 T A 4: 151,103,342 (GRCm39) Y530F probably damaging Het
Pes1 C A 11: 3,919,524 (GRCm39) L66I probably damaging Het
Pramel22 G A 4: 143,380,712 (GRCm39) T437I probably damaging Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Prss54 C T 8: 96,297,735 (GRCm39) W45* probably null Het
Psg29 A T 7: 16,944,621 (GRCm39) N377I probably benign Het
Rab3gap2 T A 1: 185,015,739 (GRCm39) probably null Het
Serpinb9c C T 13: 33,338,524 (GRCm39) G125E probably damaging Het
Skint4 A G 4: 111,977,065 (GRCm39) T152A probably benign Het
Slc26a2 A G 18: 61,331,650 (GRCm39) C594R possibly damaging Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
Ttn T A 2: 76,594,864 (GRCm39) E20394V probably damaging Het
Ugt2b36 A G 5: 87,214,114 (GRCm39) V510A possibly damaging Het
Usf1 T C 1: 171,245,628 (GRCm39) L291P possibly damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r172 A C 7: 23,359,616 (GRCm39) D167A probably damaging Het
Wnt10b T A 15: 98,672,228 (GRCm39) Q163L 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
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'- AACCAGATGGAAGCTGCCAG -3'
(R):5'- TAGGAAACACGTATCACTGCC -3'

Sequencing Primer
(F):5'- ATGGAAGCTGCCAGCCAGG -3'
(R):5'- ACAAAGGCTGCTGCTCTC -3'
Posted On 2014-10-16