Incidental Mutation 'IGL01987:Pcnx3'
ID 181959
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcnx3
Ensembl Gene ENSMUSG00000054874
Gene Name pecanex homolog 3
Synonyms Pcnxl3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01987
Quality Score
Status
Chromosome 19
Chromosomal Location 5714663-5738936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5727507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 644 (D644G)
Ref Sequence ENSEMBL: ENSMUSP00000063786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068169] [ENSMUST00000113615] [ENSMUST00000141577]
AlphaFold Q8VI59
Predicted Effect probably damaging
Transcript: ENSMUST00000068169
AA Change: D644G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
AA Change: D644G

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 damaging
Transcript: ENSMUST00000113615
AA Change: D1052G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
AA Change: D1052G

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: ENSMUST00000127876
SMART Domains Protein: ENSMUSP00000123696
Gene: ENSMUSG00000054874

DomainStartEndE-ValueType
low complexity region 69 75 N/A INTRINSIC
transmembrane domain 84 106 N/A INTRINSIC
transmembrane domain 110 127 N/A INTRINSIC
transmembrane domain 140 162 N/A INTRINSIC
transmembrane domain 172 191 N/A INTRINSIC
transmembrane domain 200 222 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000137313
AA Change: D149G
SMART Domains Protein: ENSMUSP00000115217
Gene: ENSMUSG00000054874
AA Change: D149G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 79 98 N/A INTRINSIC
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141577
SMART Domains Protein: ENSMUSP00000116451
Gene: ENSMUSG00000054874

DomainStartEndE-ValueType
low complexity region 104 110 N/A INTRINSIC
transmembrane domain 119 141 N/A INTRINSIC
transmembrane domain 145 162 N/A INTRINSIC
transmembrane domain 175 197 N/A INTRINSIC
transmembrane domain 207 224 N/A INTRINSIC
transmembrane domain 229 251 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000145270
AA Change: D472G
SMART Domains Protein: ENSMUSP00000116493
Gene: ENSMUSG00000054874
AA Change: D472G

DomainStartEndE-ValueType
low complexity region 199 205 N/A INTRINSIC
transmembrane domain 214 236 N/A INTRINSIC
transmembrane domain 240 257 N/A INTRINSIC
transmembrane domain 270 292 N/A INTRINSIC
transmembrane domain 302 321 N/A INTRINSIC
transmembrane domain 330 352 N/A INTRINSIC
transmembrane domain 367 389 N/A INTRINSIC
transmembrane domain 402 421 N/A INTRINSIC
transmembrane domain 474 496 N/A INTRINSIC
transmembrane domain 498 520 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147161
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,565,202 (GRCm39) F77L probably benign Het
Abca8a A G 11: 109,964,981 (GRCm39) F439L possibly damaging Het
Abcb5 A T 12: 118,891,093 (GRCm39) V468D probably damaging Het
Adgrb3 A T 1: 25,140,512 (GRCm39) probably null Het
Ajm1 T C 2: 25,467,970 (GRCm39) E647G possibly damaging Het
Ankrd28 T C 14: 31,500,931 (GRCm39) D50G probably damaging Het
Cacna1b A T 2: 24,587,579 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Cdk5rap2 A G 4: 70,220,319 (GRCm39) probably null Het
Dmtf1l C T X: 125,722,098 (GRCm39) E336K possibly damaging Het
E2f5 T C 3: 14,652,363 (GRCm39) probably benign Het
Fam135b A G 15: 71,333,964 (GRCm39) Y1077H probably benign Het
Fap A G 2: 62,359,020 (GRCm39) Y428H probably damaging Het
Fasn A G 11: 120,708,899 (GRCm39) S595P probably damaging Het
Flnb T C 14: 7,922,748 (GRCm38) probably null Het
Fzd3 A T 14: 65,477,347 (GRCm39) V69E probably damaging Het
Gcdh A T 8: 85,620,110 (GRCm39) probably benign Het
Ido1 A G 8: 25,083,159 (GRCm39) Y89H probably benign Het
Itga2 G A 13: 114,984,482 (GRCm39) Q1010* probably null Het
Man1a2 T C 3: 100,551,873 (GRCm39) Y280C probably damaging Het
Mgat4d T C 8: 84,094,731 (GRCm39) I256T probably damaging Het
Mmrn1 A G 6: 60,921,557 (GRCm39) K5E probably benign Het
Ncapd2 A G 6: 125,162,804 (GRCm39) probably benign Het
Or2at4 A T 7: 99,384,478 (GRCm39) I43F probably damaging Het
Or7g18 A T 9: 18,787,003 (GRCm39) I127L probably benign Het
Pole T C 5: 110,485,098 (GRCm39) V2280A probably benign Het
Ptprf T A 4: 118,134,567 (GRCm39) M24L probably benign Het
Sbno1 T C 5: 124,542,282 (GRCm39) N337S probably damaging Het
Serpinc1 T A 1: 160,820,977 (GRCm39) F141L probably damaging Het
Shroom3 C A 5: 93,090,048 (GRCm39) R933S probably damaging Het
Slc24a2 G A 4: 87,146,033 (GRCm39) P7L probably benign Het
Slc25a32 G A 15: 38,961,002 (GRCm39) T227I probably damaging Het
Slc7a1 A G 5: 148,274,002 (GRCm39) F396L possibly damaging Het
Smok2a G A 17: 13,445,377 (GRCm39) R318H probably benign Het
Sntg2 A G 12: 30,362,569 (GRCm39) V59A probably damaging Het
Sspo A G 6: 48,454,558 (GRCm39) probably null Het
Tnfrsf1a G A 6: 125,333,827 (GRCm39) V27I probably damaging Het
Tnpo3 T C 6: 29,560,200 (GRCm39) T648A probably benign Het
Tpbg A G 9: 85,727,252 (GRCm39) Y407C probably damaging Het
Wbp2nl A T 15: 82,192,762 (GRCm39) M149L probably benign Het
Yif1a T A 19: 5,141,625 (GRCm39) M181K probably benign Het
Zkscan8 A G 13: 21,710,729 (GRCm39) L127S probably 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
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
R7488:Pcnx3 UTSW 19 5,717,487 (GRCm39) missense possibly damaging 0.72
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
Posted On 2014-05-07