Incidental Mutation 'R7488:Pcnx3'
ID 580379
Institutional Source Beutler Lab
Gene Symbol Pcnx3
Ensembl Gene ENSMUSG00000054874
Gene Name pecanex homolog 3
Synonyms Pcnxl3
MMRRC Submission 045562-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7488 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 5714663-5738936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5717487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 1541 (R1541W)
Ref Sequence ENSEMBL: ENSMUSP00000109245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068169] [ENSMUST00000071857] [ENSMUST00000080824] [ENSMUST00000113615] [ENSMUST00000164304] [ENSMUST00000169854]
AlphaFold Q8VI59
Predicted Effect probably damaging
Transcript: ENSMUST00000068169
AA Change: R1133W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
AA Change: R1133W

DomainStartEndE-ValueType
transmembrane domain 36 53 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 370 376 N/A INTRINSIC
transmembrane domain 385 407 N/A INTRINSIC
transmembrane domain 411 428 N/A INTRINSIC
transmembrane domain 441 463 N/A INTRINSIC
transmembrane domain 473 492 N/A INTRINSIC
transmembrane domain 501 523 N/A INTRINSIC
transmembrane domain 538 560 N/A INTRINSIC
transmembrane domain 573 592 N/A INTRINSIC
transmembrane domain 645 667 N/A INTRINSIC
transmembrane domain 669 691 N/A INTRINSIC
low complexity region 1011 1025 N/A INTRINSIC
Pfam:Pecanex_C 1159 1389 7.5e-124 PFAM
low complexity region 1462 1479 N/A INTRINSIC
low complexity region 1481 1510 N/A INTRINSIC
low complexity region 1525 1538 N/A INTRINSIC
low complexity region 1558 1569 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071857
SMART Domains Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 164 192 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
Pfam:Rap_GAP 346 529 7.2e-64 PFAM
low complexity region 580 593 N/A INTRINSIC
PDZ 692 758 9.51e-7 SMART
low complexity region 828 841 N/A INTRINSIC
low complexity region 872 883 N/A INTRINSIC
coiled coil region 969 1023 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080824
SMART Domains Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 164 192 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
Pfam:Rap_GAP 346 535 4.4e-60 PFAM
low complexity region 580 593 N/A INTRINSIC
PDZ 692 758 9.51e-7 SMART
low complexity region 828 841 N/A INTRINSIC
low complexity region 872 883 N/A INTRINSIC
coiled coil region 969 1023 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113615
AA Change: R1541W

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
AA Change: R1541W

DomainStartEndE-ValueType
transmembrane domain 36 53 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 438 459 N/A INTRINSIC
low complexity region 778 784 N/A INTRINSIC
transmembrane domain 793 815 N/A INTRINSIC
transmembrane domain 819 836 N/A INTRINSIC
transmembrane domain 849 871 N/A INTRINSIC
transmembrane domain 881 900 N/A INTRINSIC
transmembrane domain 909 931 N/A INTRINSIC
transmembrane domain 946 968 N/A INTRINSIC
transmembrane domain 981 1000 N/A INTRINSIC
transmembrane domain 1053 1075 N/A INTRINSIC
transmembrane domain 1077 1099 N/A INTRINSIC
low complexity region 1419 1433 N/A INTRINSIC
Pfam:Pecanex_C 1570 1796 5.9e-116 PFAM
low complexity region 1870 1887 N/A INTRINSIC
low complexity region 1889 1918 N/A INTRINSIC
low complexity region 1933 1946 N/A INTRINSIC
low complexity region 1966 1977 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133136
SMART Domains Protein: ENSMUSP00000123666
Gene: ENSMUSG00000054874

DomainStartEndE-ValueType
Pfam:Pecanex_C 1 129 7.9e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164304
SMART Domains Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 164 192 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
Pfam:Rap_GAP 346 535 4.4e-60 PFAM
low complexity region 580 593 N/A INTRINSIC
PDZ 692 758 9.51e-7 SMART
low complexity region 828 841 N/A INTRINSIC
low complexity region 872 883 N/A INTRINSIC
coiled coil region 969 1023 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169854
SMART Domains Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917

DomainStartEndE-ValueType
low complexity region 59 70 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 164 192 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
Pfam:Rap_GAP 346 535 4.4e-60 PFAM
low complexity region 580 593 N/A INTRINSIC
PDZ 692 758 9.51e-7 SMART
low complexity region 828 841 N/A INTRINSIC
low complexity region 872 883 N/A INTRINSIC
coiled coil region 969 1023 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,197,179 (GRCm39) F251I possibly damaging Het
Abcb11 C T 2: 69,108,146 (GRCm39) G717D probably benign Het
Abcc1 G A 16: 14,207,763 (GRCm39) W47* probably null Het
Ahnak2 A G 12: 112,748,641 (GRCm39) I402T Het
Ankfy1 G A 11: 72,650,769 (GRCm39) R984Q probably benign Het
Apaf1 A G 10: 90,890,242 (GRCm39) I598T probably benign Het
Apobec1 G T 6: 122,558,521 (GRCm39) P78Q possibly damaging Het
Asap1 A T 15: 63,991,974 (GRCm39) I737N probably benign Het
Aste1 T A 9: 105,279,904 (GRCm39) probably null Het
Bcr A C 10: 74,996,162 (GRCm39) D902A possibly damaging Het
Bicra T C 7: 15,723,367 (GRCm39) probably null Het
Ccdc27 T C 4: 154,117,424 (GRCm39) T508A probably benign Het
Ccz1 T A 5: 143,928,401 (GRCm39) N383I probably damaging Het
Cdh24 T C 14: 54,869,637 (GRCm39) D760G possibly damaging Het
Cdhr2 T C 13: 54,865,728 (GRCm39) I242T probably benign Het
Cdk4 T A 10: 126,900,106 (GRCm39) M1K probably null Het
Cfap96 A G 8: 46,415,331 (GRCm39) V225A probably benign Het
Cntn5 A T 9: 9,970,570 (GRCm39) S302T probably damaging Het
Col25a1 G T 3: 130,378,350 (GRCm39) G601V probably damaging Het
Cpb1 A G 3: 20,324,488 (GRCm39) L62P possibly damaging Het
Cpne1 T C 2: 155,919,857 (GRCm39) T264A probably benign Het
Cpvl T A 6: 53,924,727 (GRCm39) N198Y probably damaging Het
Cyp2u1 A C 3: 131,091,596 (GRCm39) L308R probably damaging Het
Ddx54 G T 5: 120,762,789 (GRCm39) V637L probably benign Het
Dglucy C A 12: 100,823,310 (GRCm39) P472T possibly damaging Het
Dync2h1 A G 9: 7,124,855 (GRCm39) Y2006H probably benign Het
Eif5b T C 1: 38,089,387 (GRCm39) M1121T possibly damaging Het
Emsy A G 7: 98,264,762 (GRCm39) V545A possibly damaging Het
Ezh1 G A 11: 101,091,726 (GRCm39) L480F possibly damaging Het
Fbln2 T A 6: 91,242,845 (GRCm39) probably null Het
Gja10 T A 4: 32,602,058 (GRCm39) K109* probably null Het
Gm28042 A G 2: 119,870,438 (GRCm39) N762S probably benign Het
Gnb1l C A 16: 18,359,220 (GRCm39) P7Q possibly damaging Het
Grem2 A T 1: 174,664,685 (GRCm39) S55T probably damaging Het
Gsn A T 2: 35,186,433 (GRCm39) N393I possibly damaging Het
H6pd T A 4: 150,067,093 (GRCm39) Q439L probably benign Het
Hmcn2 G A 2: 31,310,842 (GRCm39) G3362E probably damaging Het
Ighv11-2 T C 12: 114,011,978 (GRCm39) Y79C probably damaging Het
Ikzf2 T A 1: 69,578,544 (GRCm39) N322Y probably benign Het
Il25 A G 14: 55,170,459 (GRCm39) I11V probably benign Het
Jak2 C T 19: 29,275,783 (GRCm39) T741I probably damaging Het
Kdm3b T C 18: 34,957,934 (GRCm39) S1300P probably damaging Het
Ldb3 T A 14: 34,289,402 (GRCm39) Q268L probably damaging Het
Lrrc23 T A 6: 124,756,075 (GRCm39) D6V unknown Het
Megf10 A G 18: 57,324,187 (GRCm39) Y76C probably damaging Het
Neb A T 2: 52,110,233 (GRCm39) M205K probably benign Het
Or12e8 T C 2: 87,188,597 (GRCm39) S270P probably damaging Het
Or6c2b G T 10: 128,947,605 (GRCm39) Q230K probably benign Het
Or8a1 A G 9: 37,641,983 (GRCm39) S99P probably damaging Het
Pdgfd A G 9: 6,359,739 (GRCm39) Y270C probably damaging Het
Pds5b A T 5: 150,646,802 (GRCm39) D197V probably damaging Het
Pknox2 A G 9: 36,866,127 (GRCm39) M30T probably benign Het
Plekhg1 A T 10: 3,907,491 (GRCm39) S858C Het
Por A T 5: 135,762,498 (GRCm39) E400D probably benign Het
Pou2af2 C A 9: 51,201,360 (GRCm39) R232L probably damaging Het
Psip1 A G 4: 83,391,275 (GRCm39) probably null Het
Retreg1 G T 15: 25,889,628 (GRCm39) V111F Het
Rock1 G A 18: 10,122,762 (GRCm39) A353V probably damaging Het
Rpl6 C G 5: 121,346,591 (GRCm39) R231G probably benign Het
Scn7a C T 2: 66,587,574 (GRCm39) R43H probably benign Het
Scnn1g T A 7: 121,362,657 (GRCm39) N488K probably benign Het
Slc24a1 A G 9: 64,831,764 (GRCm39) V1111A probably benign Het
Snapc1 C T 12: 74,029,285 (GRCm39) S356L probably benign Het
Spata31e2 T C 1: 26,723,039 (GRCm39) T714A possibly damaging Het
Ssbp2 T A 13: 91,823,209 (GRCm39) N201K probably damaging Het
Tfdp2 A G 9: 96,179,695 (GRCm39) N43D probably damaging Het
Tmprss11d A G 5: 86,474,309 (GRCm39) I216T probably damaging Het
Tmprss4 A G 9: 45,086,853 (GRCm39) S303P probably benign Het
Tnpo2 A G 8: 85,781,663 (GRCm39) E815G probably benign Het
Trav6-1 A C 14: 52,875,972 (GRCm39) M1L possibly damaging Het
Trpm3 T C 19: 22,955,937 (GRCm39) V1133A probably damaging Het
Trpv1 C T 11: 73,129,355 (GRCm39) P91S probably benign Het
Trpv2 T C 11: 62,480,576 (GRCm39) Y338H probably damaging Het
Txnip T C 3: 96,467,539 (GRCm39) M336T probably benign Het
Vmn1r61 A T 7: 5,613,767 (GRCm39) H182Q possibly damaging Het
Vmn2r105 A G 17: 20,429,045 (GRCm39) V677A probably damaging Het
Wwp1 G T 4: 19,627,660 (GRCm39) T745K probably damaging Het
Xkr5 C A 8: 18,983,608 (GRCm39) E645* probably null Het
Zfp451 C T 1: 33,818,221 (GRCm39) R303H probably benign Het
Zyg11b T C 4: 108,123,655 (GRCm39) H104R possibly damaging Het
Other mutations in Pcnx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01616:Pcnx3 APN 19 5,717,287 (GRCm39) unclassified probably benign
IGL01667:Pcnx3 APN 19 5,736,658 (GRCm39) missense probably benign 0.03
IGL01704:Pcnx3 APN 19 5,717,504 (GRCm39) missense probably damaging 1.00
IGL01752:Pcnx3 APN 19 5,715,365 (GRCm39) nonsense probably null
IGL01791:Pcnx3 APN 19 5,723,295 (GRCm39) missense probably benign 0.39
IGL01937:Pcnx3 APN 19 5,727,691 (GRCm39) missense probably benign
IGL01987:Pcnx3 APN 19 5,727,507 (GRCm39) missense probably damaging 1.00
IGL02073:Pcnx3 APN 19 5,729,414 (GRCm39) missense probably damaging 0.99
IGL02417:Pcnx3 APN 19 5,736,509 (GRCm39) missense possibly damaging 0.92
IGL03143:Pcnx3 APN 19 5,735,423 (GRCm39) missense probably damaging 1.00
buns UTSW 19 5,733,368 (GRCm39) start codon destroyed probably null
Pastries UTSW 19 5,733,367 (GRCm39) nonsense probably null
pie UTSW 19 5,717,186 (GRCm39) missense possibly damaging 0.81
R7096_pcnx3_526 UTSW 19 5,722,643 (GRCm39) missense probably damaging 1.00
swirls UTSW 19 5,722,543 (GRCm39) missense probably damaging 1.00
tip UTSW 19 5,733,808 (GRCm39) splice site probably benign
PIT4453001:Pcnx3 UTSW 19 5,722,784 (GRCm39) critical splice donor site probably null
R0234:Pcnx3 UTSW 19 5,722,646 (GRCm39) missense probably benign 0.12
R0234:Pcnx3 UTSW 19 5,722,646 (GRCm39) missense probably benign 0.12
R0360:Pcnx3 UTSW 19 5,715,611 (GRCm39) missense probably damaging 0.98
R0687:Pcnx3 UTSW 19 5,734,361 (GRCm39) missense probably damaging 1.00
R0718:Pcnx3 UTSW 19 5,727,756 (GRCm39) splice site probably benign
R0840:Pcnx3 UTSW 19 5,735,729 (GRCm39) splice site probably null
R0907:Pcnx3 UTSW 19 5,721,553 (GRCm39) missense possibly damaging 0.95
R1251:Pcnx3 UTSW 19 5,727,210 (GRCm39) missense probably benign 0.03
R1373:Pcnx3 UTSW 19 5,715,544 (GRCm39) missense probably damaging 0.97
R1467:Pcnx3 UTSW 19 5,724,922 (GRCm39) missense possibly damaging 0.63
R1467:Pcnx3 UTSW 19 5,724,922 (GRCm39) missense possibly damaging 0.63
R1572:Pcnx3 UTSW 19 5,735,375 (GRCm39) nonsense probably null
R1602:Pcnx3 UTSW 19 5,722,543 (GRCm39) missense probably damaging 1.00
R1628:Pcnx3 UTSW 19 5,736,093 (GRCm39) missense probably damaging 0.99
R1635:Pcnx3 UTSW 19 5,715,773 (GRCm39) missense probably benign 0.00
R1670:Pcnx3 UTSW 19 5,723,343 (GRCm39) missense probably damaging 1.00
R1889:Pcnx3 UTSW 19 5,722,684 (GRCm39) missense probably damaging 1.00
R1898:Pcnx3 UTSW 19 5,722,615 (GRCm39) missense probably damaging 1.00
R2113:Pcnx3 UTSW 19 5,721,584 (GRCm39) missense possibly damaging 0.93
R2147:Pcnx3 UTSW 19 5,717,633 (GRCm39) missense probably damaging 1.00
R2358:Pcnx3 UTSW 19 5,733,368 (GRCm39) start codon destroyed probably null
R2358:Pcnx3 UTSW 19 5,733,367 (GRCm39) nonsense probably null
R2871:Pcnx3 UTSW 19 5,733,774 (GRCm39) intron probably benign
R3699:Pcnx3 UTSW 19 5,722,493 (GRCm39) missense probably damaging 1.00
R3712:Pcnx3 UTSW 19 5,733,368 (GRCm39) start codon destroyed probably null
R3712:Pcnx3 UTSW 19 5,733,367 (GRCm39) nonsense probably null
R3798:Pcnx3 UTSW 19 5,728,696 (GRCm39) nonsense probably null
R3856:Pcnx3 UTSW 19 5,728,995 (GRCm39) missense probably benign 0.02
R3953:Pcnx3 UTSW 19 5,733,808 (GRCm39) splice site probably benign
R4613:Pcnx3 UTSW 19 5,717,247 (GRCm39) missense possibly damaging 0.51
R4781:Pcnx3 UTSW 19 5,737,158 (GRCm39) missense probably damaging 0.99
R4816:Pcnx3 UTSW 19 5,738,023 (GRCm39) critical splice donor site probably null
R5338:Pcnx3 UTSW 19 5,722,624 (GRCm39) missense probably damaging 1.00
R5770:Pcnx3 UTSW 19 5,731,607 (GRCm39) intron probably benign
R5950:Pcnx3 UTSW 19 5,717,186 (GRCm39) missense possibly damaging 0.81
R5951:Pcnx3 UTSW 19 5,721,708 (GRCm39) missense possibly damaging 0.71
R5969:Pcnx3 UTSW 19 5,735,563 (GRCm39) missense probably damaging 1.00
R6543:Pcnx3 UTSW 19 5,715,275 (GRCm39) missense probably benign 0.07
R6704:Pcnx3 UTSW 19 5,736,515 (GRCm39) missense possibly damaging 0.74
R7096:Pcnx3 UTSW 19 5,722,643 (GRCm39) missense probably damaging 1.00
R7177:Pcnx3 UTSW 19 5,737,527 (GRCm39) missense probably benign 0.01
R7308:Pcnx3 UTSW 19 5,736,175 (GRCm39) missense possibly damaging 0.52
R7387:Pcnx3 UTSW 19 5,723,364 (GRCm39) missense probably benign 0.33
R7670:Pcnx3 UTSW 19 5,727,210 (GRCm39) missense probably benign 0.03
R7831:Pcnx3 UTSW 19 5,735,989 (GRCm39) missense probably damaging 0.96
R7850:Pcnx3 UTSW 19 5,728,960 (GRCm39) missense possibly damaging 0.55
R8120:Pcnx3 UTSW 19 5,717,574 (GRCm39) missense probably benign
R8139:Pcnx3 UTSW 19 5,715,773 (GRCm39) missense probably benign 0.00
R8258:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8259:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8260:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8261:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8262:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8350:Pcnx3 UTSW 19 5,723,254 (GRCm39) missense probably damaging 1.00
R8411:Pcnx3 UTSW 19 5,729,618 (GRCm39) missense possibly damaging 0.90
R8429:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8431:Pcnx3 UTSW 19 5,715,412 (GRCm39) missense probably damaging 1.00
R8443:Pcnx3 UTSW 19 5,736,670 (GRCm39) missense probably benign
R8450:Pcnx3 UTSW 19 5,723,254 (GRCm39) missense probably damaging 1.00
R8494:Pcnx3 UTSW 19 5,725,404 (GRCm39) missense probably damaging 0.99
R8790:Pcnx3 UTSW 19 5,735,206 (GRCm39) missense possibly damaging 0.71
R8939:Pcnx3 UTSW 19 5,730,347 (GRCm39) missense probably damaging 0.98
R9065:Pcnx3 UTSW 19 5,717,582 (GRCm39) missense possibly damaging 0.86
R9070:Pcnx3 UTSW 19 5,715,601 (GRCm39) missense probably benign 0.33
X0028:Pcnx3 UTSW 19 5,734,455 (GRCm39) missense probably damaging 1.00
X0053:Pcnx3 UTSW 19 5,736,650 (GRCm39) splice site probably null
Z1176:Pcnx3 UTSW 19 5,737,248 (GRCm39) critical splice acceptor site probably null
Z1177:Pcnx3 UTSW 19 5,721,654 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- AGTCAGCACAGCTCAGTGTG -3'
(R):5'- ATCACATTGTGGCTCAGGC -3'

Sequencing Primer
(F):5'- AGACTGAGAGTCACCCA -3'
(R):5'- ATGGAGTTGCCCCTGACAC -3'
Posted On 2019-10-07