Incidental Mutation 'R4613:Pcnx3'
ID 351014
Institutional Source Beutler Lab
Gene Symbol Pcnx3
Ensembl Gene ENSMUSG00000054874
Gene Name pecanex homolog 3
Synonyms Pcnxl3
MMRRC Submission 041824-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4613 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 5664635-5688908 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5667219 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1579 (T1579A)
Ref Sequence ENSEMBL: ENSMUSP00000109245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068169] [ENSMUST00000071857] [ENSMUST00000080824] [ENSMUST00000113615] [ENSMUST00000164304] [ENSMUST00000169854]
AlphaFold Q8VI59
Predicted Effect probably benign
Transcript: ENSMUST00000068169
AA Change: T1171A

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
AA Change: T1171A

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: T1579A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
AA Change: T1579A

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 noncoding transcript
Transcript: ENSMUST00000124905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132420
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 noncoding transcript
Transcript: ENSMUST00000146638
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: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,128,557 (GRCm38) L130I probably benign Het
Abca9 A G 11: 110,144,784 (GRCm38) V670A probably benign Het
Adad1 A G 3: 37,092,033 (GRCm38) N517D probably damaging Het
Ankle2 T C 5: 110,231,379 (GRCm38) L48P probably benign Het
Aoc3 A T 11: 101,337,659 (GRCm38) probably benign Het
Areg A G 5: 91,143,504 (GRCm38) K102R probably benign Het
Bmp1 T C 14: 70,508,523 (GRCm38) T167A probably damaging Het
C4b C T 17: 34,734,551 (GRCm38) G986D probably benign Het
Caml G T 13: 55,625,142 (GRCm38) G200C probably damaging Het
Ccdc40 A C 11: 119,231,532 (GRCm38) R53S probably benign Het
Cdh22 T A 2: 165,143,656 (GRCm38) I337L probably benign Het
Col12a1 A T 9: 79,647,601 (GRCm38) V2065D probably benign Het
Copg2 A G 6: 30,811,596 (GRCm38) S591P probably benign Het
Cyp2d34 G A 15: 82,616,325 (GRCm38) P438S probably damaging Het
Dchs1 T C 7: 105,772,724 (GRCm38) D163G probably damaging Het
Depdc1b T C 13: 108,363,643 (GRCm38) V230A probably damaging Het
Depdc5 T A 5: 32,975,446 (GRCm38) L1300H probably damaging Het
Dnah10 G T 5: 124,762,869 (GRCm38) probably null Het
Dsc2 A T 18: 20,041,819 (GRCm38) D466E probably damaging Het
Dthd1 A G 5: 62,827,068 (GRCm38) D372G probably damaging Het
Eeig2 A T 3: 109,027,255 (GRCm38) F23I probably benign Het
Eogt G T 6: 97,134,304 (GRCm38) Q199K probably benign Het
Epha6 C A 16: 59,666,597 (GRCm38) R1029L possibly damaging Het
Eppin C A 2: 164,589,323 (GRCm38) E128* probably null Het
Fgf20 T C 8: 40,286,611 (GRCm38) R33G probably benign Het
Fgg A G 3: 83,010,090 (GRCm38) N142S probably damaging Het
Fhip2a C A 19: 57,371,187 (GRCm38) P53Q probably damaging Het
Gba1 C T 3: 89,208,644 (GRCm38) probably null Het
Gli2 A G 1: 118,837,511 (GRCm38) V970A probably damaging Het
Gramd1b A T 9: 40,307,993 (GRCm38) V508D probably damaging Het
Gucy2c T A 6: 136,708,321 (GRCm38) D898V probably damaging Het
Kcnj15 T C 16: 95,295,794 (GRCm38) Y92H probably damaging Het
L3mbtl3 A T 10: 26,282,795 (GRCm38) S652T unknown Het
Ldb2 G T 5: 44,476,551 (GRCm38) Q326K probably benign Het
Lipi C A 16: 75,560,801 (GRCm38) R292L probably benign Het
Lrrc36 G A 8: 105,449,614 (GRCm38) V207I possibly damaging Het
Lyplal1 C T 1: 186,088,752 (GRCm38) G166D probably benign Het
Map1b A T 13: 99,430,302 (GRCm38) Y1970* probably null Het
Map2 A G 1: 66,425,469 (GRCm38) N287D probably damaging Het
Map3k11 G T 19: 5,697,471 (GRCm38) Q578H probably damaging Het
Map3k11 A T 19: 5,697,470 (GRCm38) Q578L probably benign Het
Map4k4 G A 1: 40,017,191 (GRCm38) S1012N probably benign Het
Mapk13 A T 17: 28,769,452 (GRCm38) N15Y probably damaging Het
Mapk15 G A 15: 75,995,910 (GRCm38) A125T probably damaging Het
Mrgprb1 C A 7: 48,447,708 (GRCm38) R152L possibly damaging Het
Mtrex C A 13: 112,921,739 (GRCm38) E53* probably null Het
Muc5ac T G 7: 141,791,103 (GRCm38) Y104D possibly damaging Het
Myo1h C A 5: 114,351,676 (GRCm38) H647Q probably benign Het
Myo1h A G 5: 114,348,379 (GRCm38) N566S possibly damaging Het
Neo1 A G 9: 58,889,041 (GRCm38) I1201T possibly damaging Het
Nlgn1 T C 3: 25,436,022 (GRCm38) T514A probably benign Het
Or10al4 A G 17: 37,726,696 (GRCm38) Y224C probably damaging Het
Or12j4 A T 7: 140,467,068 (GRCm38) Y289F probably damaging Het
Or7a42 A G 10: 78,956,065 (GRCm38) N287D probably damaging Het
Or8d4 T A 9: 40,127,722 (GRCm38) K80* probably null Het
Orc2 A T 1: 58,500,309 (GRCm38) L57* probably null Het
Otoa G A 7: 121,145,568 (GRCm38) V850M probably damaging Het
Pde5a A T 3: 122,823,093 (GRCm38) Y564F probably damaging Het
Pdxk A C 10: 78,447,919 (GRCm38) I147S probably damaging Het
Pfdn5 A G 15: 102,328,752 (GRCm38) D108G probably benign Het
Pink1 T C 4: 138,317,310 (GRCm38) D342G probably damaging Het
Prkacb A T 3: 146,737,998 (GRCm38) V336E probably damaging Het
Ptpro C A 6: 137,416,836 (GRCm38) S13* probably null Het
Rfng A G 11: 120,782,650 (GRCm38) L215P probably damaging Het
Rpn2 T C 2: 157,302,425 (GRCm38) F336L possibly damaging Het
Sacs A G 14: 61,211,797 (GRCm38) probably null Het
Sirpb1a T A 3: 15,417,037 (GRCm38) Y77F probably benign Het
Slc30a8 A G 15: 52,333,575 (GRCm38) D294G probably benign Het
Sox13 T C 1: 133,388,934 (GRCm38) I212V probably benign Het
Srebf2 T A 15: 82,185,348 (GRCm38) I657N possibly damaging Het
Srsf6 C A 2: 162,933,709 (GRCm38) T146K probably benign Het
Strn4 T C 7: 16,824,163 (GRCm38) V162A possibly damaging Het
Sulf2 T C 2: 166,132,605 (GRCm38) D53G probably damaging Het
Tbc1d8 T A 1: 39,372,708 (GRCm38) I1016F probably damaging Het
Tfrc G T 16: 32,618,657 (GRCm38) A278S probably damaging Het
Tnrc6a T G 7: 123,184,289 (GRCm38) probably null Het
Vmn1r83 T C 7: 12,321,768 (GRCm38) I121V probably benign Het
Vps13d T C 4: 145,131,655 (GRCm38) S2200G possibly damaging Het
Washc2 T A 6: 116,229,269 (GRCm38) D397E probably damaging Het
Wipf3 T C 6: 54,485,555 (GRCm38) L250P probably damaging Het
Xirp1 A G 9: 120,019,682 (GRCm38) F45S probably damaging Het
Xpo5 A G 17: 46,236,963 (GRCm38) T910A probably benign Het
Zfp235 T C 7: 24,141,676 (GRCm38) Y507H probably damaging Het
Other mutations in Pcnx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01616:Pcnx3 APN 19 5,667,259 (GRCm38) unclassified probably benign
IGL01667:Pcnx3 APN 19 5,686,630 (GRCm38) missense probably benign 0.03
IGL01704:Pcnx3 APN 19 5,667,476 (GRCm38) missense probably damaging 1.00
IGL01752:Pcnx3 APN 19 5,665,337 (GRCm38) nonsense probably null
IGL01791:Pcnx3 APN 19 5,673,267 (GRCm38) missense probably benign 0.39
IGL01937:Pcnx3 APN 19 5,677,663 (GRCm38) missense probably benign
IGL01987:Pcnx3 APN 19 5,677,479 (GRCm38) missense probably damaging 1.00
IGL02073:Pcnx3 APN 19 5,679,386 (GRCm38) missense probably damaging 0.99
IGL02417:Pcnx3 APN 19 5,686,481 (GRCm38) missense possibly damaging 0.92
IGL03143:Pcnx3 APN 19 5,685,395 (GRCm38) missense probably damaging 1.00
buns UTSW 19 5,683,340 (GRCm38) start codon destroyed probably null
Pastries UTSW 19 5,683,339 (GRCm38) nonsense probably null
pie UTSW 19 5,667,158 (GRCm38) missense possibly damaging 0.81
R7096_pcnx3_526 UTSW 19 5,672,615 (GRCm38) missense probably damaging 1.00
swirls UTSW 19 5,672,515 (GRCm38) missense probably damaging 1.00
tip UTSW 19 5,683,780 (GRCm38) splice site probably benign
PIT4453001:Pcnx3 UTSW 19 5,672,756 (GRCm38) critical splice donor site probably null
R0234:Pcnx3 UTSW 19 5,672,618 (GRCm38) missense probably benign 0.12
R0234:Pcnx3 UTSW 19 5,672,618 (GRCm38) missense probably benign 0.12
R0360:Pcnx3 UTSW 19 5,665,583 (GRCm38) missense probably damaging 0.98
R0687:Pcnx3 UTSW 19 5,684,333 (GRCm38) missense probably damaging 1.00
R0718:Pcnx3 UTSW 19 5,677,728 (GRCm38) splice site probably benign
R0840:Pcnx3 UTSW 19 5,685,701 (GRCm38) splice site probably null
R0907:Pcnx3 UTSW 19 5,671,525 (GRCm38) missense possibly damaging 0.95
R1251:Pcnx3 UTSW 19 5,677,182 (GRCm38) missense probably benign 0.03
R1373:Pcnx3 UTSW 19 5,665,516 (GRCm38) missense probably damaging 0.97
R1467:Pcnx3 UTSW 19 5,674,894 (GRCm38) missense possibly damaging 0.63
R1467:Pcnx3 UTSW 19 5,674,894 (GRCm38) missense possibly damaging 0.63
R1572:Pcnx3 UTSW 19 5,685,347 (GRCm38) nonsense probably null
R1602:Pcnx3 UTSW 19 5,672,515 (GRCm38) missense probably damaging 1.00
R1628:Pcnx3 UTSW 19 5,686,065 (GRCm38) missense probably damaging 0.99
R1635:Pcnx3 UTSW 19 5,665,745 (GRCm38) missense probably benign 0.00
R1670:Pcnx3 UTSW 19 5,673,315 (GRCm38) missense probably damaging 1.00
R1889:Pcnx3 UTSW 19 5,672,656 (GRCm38) missense probably damaging 1.00
R1898:Pcnx3 UTSW 19 5,672,587 (GRCm38) missense probably damaging 1.00
R2113:Pcnx3 UTSW 19 5,671,556 (GRCm38) missense possibly damaging 0.93
R2147:Pcnx3 UTSW 19 5,667,605 (GRCm38) missense probably damaging 1.00
R2358:Pcnx3 UTSW 19 5,683,340 (GRCm38) start codon destroyed probably null
R2358:Pcnx3 UTSW 19 5,683,339 (GRCm38) nonsense probably null
R2871:Pcnx3 UTSW 19 5,683,746 (GRCm38) intron probably benign
R3699:Pcnx3 UTSW 19 5,672,465 (GRCm38) missense probably damaging 1.00
R3712:Pcnx3 UTSW 19 5,683,340 (GRCm38) start codon destroyed probably null
R3712:Pcnx3 UTSW 19 5,683,339 (GRCm38) nonsense probably null
R3798:Pcnx3 UTSW 19 5,678,668 (GRCm38) nonsense probably null
R3856:Pcnx3 UTSW 19 5,678,967 (GRCm38) missense probably benign 0.02
R3953:Pcnx3 UTSW 19 5,683,780 (GRCm38) splice site probably benign
R4781:Pcnx3 UTSW 19 5,687,130 (GRCm38) missense probably damaging 0.99
R4816:Pcnx3 UTSW 19 5,687,995 (GRCm38) critical splice donor site probably null
R5338:Pcnx3 UTSW 19 5,672,596 (GRCm38) missense probably damaging 1.00
R5770:Pcnx3 UTSW 19 5,681,579 (GRCm38) intron probably benign
R5950:Pcnx3 UTSW 19 5,667,158 (GRCm38) missense possibly damaging 0.81
R5951:Pcnx3 UTSW 19 5,671,680 (GRCm38) missense possibly damaging 0.71
R5969:Pcnx3 UTSW 19 5,685,535 (GRCm38) missense probably damaging 1.00
R6543:Pcnx3 UTSW 19 5,665,247 (GRCm38) missense probably benign 0.07
R6704:Pcnx3 UTSW 19 5,686,487 (GRCm38) missense possibly damaging 0.74
R7096:Pcnx3 UTSW 19 5,672,615 (GRCm38) missense probably damaging 1.00
R7177:Pcnx3 UTSW 19 5,687,499 (GRCm38) missense probably benign 0.01
R7308:Pcnx3 UTSW 19 5,686,147 (GRCm38) missense possibly damaging 0.52
R7387:Pcnx3 UTSW 19 5,673,336 (GRCm38) missense probably benign 0.33
R7488:Pcnx3 UTSW 19 5,667,459 (GRCm38) missense possibly damaging 0.72
R7670:Pcnx3 UTSW 19 5,677,182 (GRCm38) missense probably benign 0.03
R7831:Pcnx3 UTSW 19 5,685,961 (GRCm38) missense probably damaging 0.96
R7850:Pcnx3 UTSW 19 5,678,932 (GRCm38) missense possibly damaging 0.55
R8120:Pcnx3 UTSW 19 5,667,546 (GRCm38) missense probably benign
R8139:Pcnx3 UTSW 19 5,665,745 (GRCm38) missense probably benign 0.00
R8258:Pcnx3 UTSW 19 5,665,384 (GRCm38) missense probably damaging 1.00
R8259:Pcnx3 UTSW 19 5,665,384 (GRCm38) missense probably damaging 1.00
R8260:Pcnx3 UTSW 19 5,665,384 (GRCm38) missense probably damaging 1.00
R8261:Pcnx3 UTSW 19 5,665,384 (GRCm38) missense probably damaging 1.00
R8262:Pcnx3 UTSW 19 5,665,384 (GRCm38) missense probably damaging 1.00
R8350:Pcnx3 UTSW 19 5,673,226 (GRCm38) missense probably damaging 1.00
R8411:Pcnx3 UTSW 19 5,679,590 (GRCm38) missense possibly damaging 0.90
R8429:Pcnx3 UTSW 19 5,665,384 (GRCm38) missense probably damaging 1.00
R8431:Pcnx3 UTSW 19 5,665,384 (GRCm38) missense probably damaging 1.00
R8443:Pcnx3 UTSW 19 5,686,642 (GRCm38) missense probably benign
R8450:Pcnx3 UTSW 19 5,673,226 (GRCm38) missense probably damaging 1.00
R8494:Pcnx3 UTSW 19 5,675,376 (GRCm38) missense probably damaging 0.99
R8790:Pcnx3 UTSW 19 5,685,178 (GRCm38) missense possibly damaging 0.71
R8939:Pcnx3 UTSW 19 5,680,319 (GRCm38) missense probably damaging 0.98
R9065:Pcnx3 UTSW 19 5,667,554 (GRCm38) missense possibly damaging 0.86
R9070:Pcnx3 UTSW 19 5,665,573 (GRCm38) missense probably benign 0.33
X0028:Pcnx3 UTSW 19 5,684,427 (GRCm38) missense probably damaging 1.00
X0053:Pcnx3 UTSW 19 5,686,622 (GRCm38) splice site probably null
Z1176:Pcnx3 UTSW 19 5,687,220 (GRCm38) critical splice acceptor site probably null
Z1177:Pcnx3 UTSW 19 5,671,626 (GRCm38) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- AGGAGAAGCTTGTCTCTTCCC -3'
(R):5'- ACCTCGAGTGGATCCAGTACTG -3'

Sequencing Primer
(F):5'- GAGAAGCTTGTCTCTTCCCCACAG -3'
(R):5'- AGTGGATCCAGTACTGTGCCTC -3'
Posted On 2015-10-08