Incidental Mutation 'R7670:Pcnx3'
ID 592136
Institutional Source Beutler Lab
Gene Symbol Pcnx3
Ensembl Gene ENSMUSG00000054874
Gene Name pecanex homolog 3
Synonyms Pcnxl3
MMRRC Submission 045742-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7670 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 5714663-5738936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5727210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1108 (F1108L)
Ref Sequence ENSEMBL: ENSMUSP00000109245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068169] [ENSMUST00000113615] [ENSMUST00000141577]
AlphaFold Q8VI59
Predicted Effect probably benign
Transcript: ENSMUST00000068169
AA Change: F700L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874
AA Change: F700L

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: ENSMUST00000113615
AA Change: F1108L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874
AA Change: F1108L

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 probably benign
Transcript: ENSMUST00000137313
SMART Domains Protein: ENSMUSP00000115217
Gene: ENSMUSG00000054874

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
SMART Domains Protein: ENSMUSP00000116493
Gene: ENSMUSG00000054874
AA Change: F528L

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T A 8: 44,023,190 (GRCm39) H100L probably benign Het
Adgrf2 T C 17: 43,022,263 (GRCm39) N187S probably damaging Het
Adipoq T A 16: 22,976,332 (GRCm39) H244Q probably damaging Het
Arhgap40 T A 2: 158,373,845 (GRCm39) S209T probably benign Het
Arrdc3 C T 13: 81,037,212 (GRCm39) L123F probably damaging Het
Aspscr1 A G 11: 120,579,865 (GRCm39) N212D probably benign Het
Ccr9 A T 9: 123,608,371 (GRCm39) S18C probably damaging Het
Cdc42bpa T A 1: 179,892,646 (GRCm39) V270D probably damaging Het
Clic4 A G 4: 134,944,516 (GRCm39) Y220H probably damaging Het
Cntln A C 4: 84,897,577 (GRCm39) H388P possibly damaging Het
Col12a1 A G 9: 79,538,925 (GRCm39) V2457A probably damaging Het
Ctsk A G 3: 95,408,925 (GRCm39) N103D probably benign Het
Ddx60 T C 8: 62,428,826 (GRCm39) S779P probably damaging Het
Dnah5 T A 15: 28,246,378 (GRCm39) probably null Het
Dnah7b T A 1: 46,148,462 (GRCm39) D279E probably benign Het
Eif1ad10 T C 12: 88,216,524 (GRCm39) N116S probably benign Het
Fam117a A G 11: 95,269,660 (GRCm39) N308S probably benign Het
Fasn A G 11: 120,704,245 (GRCm39) V1419A probably damaging Het
Fhad1 A G 4: 141,678,802 (GRCm39) S625P probably benign Het
Gemin5 A G 11: 58,038,754 (GRCm39) V585A probably benign Het
Gm5145 C A 17: 20,790,646 (GRCm39) P8Q probably benign Het
Herc1 C A 9: 66,323,629 (GRCm39) T1381K probably damaging Het
Herc6 T C 6: 57,637,107 (GRCm39) I824T probably damaging Het
Klrb1 C T 6: 128,687,050 (GRCm39) V161I probably benign Het
Krtap31-1 A G 11: 99,799,258 (GRCm39) N154D not run Het
Lcp1 A T 14: 75,437,871 (GRCm39) I94F probably benign Het
Lin7a A T 10: 107,218,552 (GRCm39) Q154L possibly damaging Het
Lnx1 T C 5: 74,846,351 (GRCm39) Y33C probably damaging Het
Myo5b T C 18: 74,834,517 (GRCm39) V859A probably benign Het
Ncbp1 A G 4: 46,170,015 (GRCm39) Q696R probably damaging Het
Neurl1b C G 17: 26,657,720 (GRCm39) H219Q probably benign Het
Nme8 T C 13: 19,842,999 (GRCm39) E392G probably benign Het
Nufip1 CAAAACAGAAAACAGAAAAC CAAAACAGAAAACAGAAAACAGAAAAC 14: 76,349,414 (GRCm39) probably null Het
Nuggc A G 14: 65,850,975 (GRCm39) I298V probably damaging Het
Nup155 A C 15: 8,183,180 (GRCm39) K1247Q probably damaging Het
Or1a1 A G 11: 74,087,033 (GRCm39) K235E probably damaging Het
Or5c1 A T 2: 37,221,771 (GRCm39) E4V probably benign Het
Otud4 T A 8: 80,382,493 (GRCm39) probably null Het
Pacc1 A G 1: 191,073,065 (GRCm39) N162S probably benign Het
Pcdhb18 T C 18: 37,624,749 (GRCm39) V693A probably damaging Het
Prkca A T 11: 107,905,170 (GRCm39) N189K probably damaging Het
Rbm24 A G 13: 46,582,683 (GRCm39) I201V probably benign Het
Reep6 T C 10: 80,169,627 (GRCm39) L105P probably damaging Het
Retreg1 T C 15: 25,941,126 (GRCm39) probably benign Het
Rev3l C T 10: 39,712,718 (GRCm39) T2382I probably benign Het
Rnf31 A G 14: 55,831,818 (GRCm39) N230S probably benign Het
Rreb1 T C 13: 38,115,548 (GRCm39) L969P probably benign Het
Rsph4a T A 10: 33,785,029 (GRCm39) N313K probably damaging Het
Serpina3f T A 12: 104,183,525 (GRCm39) L129Q probably damaging Het
Slc9a2 T A 1: 40,758,157 (GRCm39) V232D probably damaging Het
Stmn2 T C 3: 8,619,925 (GRCm39) L121P probably damaging Het
Svep1 C T 4: 58,097,424 (GRCm39) G1373D probably damaging Het
Tex55 C T 16: 38,648,453 (GRCm39) D219N possibly damaging Het
Tns1 C A 1: 73,991,636 (GRCm39) R1014L possibly damaging Het
Top2b T C 14: 16,416,620 (GRCm38) S1127P possibly damaging Het
Txndc16 A T 14: 45,373,324 (GRCm39) C768* probably null Het
Ubl7 A T 9: 57,837,052 (GRCm39) E354D probably benign Het
Ush2a T C 1: 188,516,905 (GRCm39) L3205P possibly damaging Het
Xirp2 A G 2: 67,340,917 (GRCm39) T1053A possibly damaging Het
Zbtb21 A G 16: 97,753,077 (GRCm39) L402P probably damaging Het
Zfp27 T A 7: 29,594,221 (GRCm39) K581N possibly damaging Het
Zfp62 A T 11: 49,105,903 (GRCm39) probably benign 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
R7488:Pcnx3 UTSW 19 5,717,487 (GRCm39) missense possibly damaging 0.72
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'- TTGGAGTCCAGCAGAGACTG -3'
(R):5'- TGCACCTCTTGGTATGGATG -3'

Sequencing Primer
(F):5'- GAATGGGCATGGGGGCTG -3'
(R):5'- TGCTGCACTTGAGAGCC -3'
Posted On 2019-11-12