Incidental Mutation 'R5943:Pcnx4'
ID 460439
Institutional Source Beutler Lab
Gene Symbol Pcnx4
Ensembl Gene ENSMUSG00000034501
Gene Name pecanex homolog 4
Synonyms Pcnxl4, 1810048J11Rik
MMRRC Submission 044135-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R5943 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 72583157-72626893 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72626232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1146 (H1146R)
Ref Sequence ENSEMBL: ENSMUSP00000038916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044352]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000044352
AA Change: H1146R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038916
Gene: ENSMUSG00000034501
AA Change: H1146R

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
transmembrane domain 75 97 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 174 196 N/A INTRINSIC
transmembrane domain 247 264 N/A INTRINSIC
transmembrane domain 296 330 N/A INTRINSIC
transmembrane domain 368 390 N/A INTRINSIC
transmembrane domain 400 417 N/A INTRINSIC
transmembrane domain 454 476 N/A INTRINSIC
low complexity region 478 489 N/A INTRINSIC
transmembrane domain 546 564 N/A INTRINSIC
transmembrane domain 577 599 N/A INTRINSIC
low complexity region 657 670 N/A INTRINSIC
low complexity region 801 813 N/A INTRINSIC
Pfam:Pecanex_C 999 1174 4.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222413
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C A 17: 45,828,637 (GRCm39) Q671K probably benign Het
Acaa2 A G 18: 74,925,453 (GRCm39) H72R probably damaging Het
Acad8 A G 9: 26,910,740 (GRCm39) L18P probably benign Het
Acap3 T C 4: 155,983,879 (GRCm39) V115A possibly damaging Het
Adamts9 T C 6: 92,880,767 (GRCm39) T503A probably benign Het
Adcy1 T C 11: 7,111,337 (GRCm39) F876S probably damaging Het
Adgrv1 T C 13: 81,534,985 (GRCm39) E5760G probably damaging Het
Ankrd26 A T 6: 118,482,707 (GRCm39) I1631K probably damaging Het
Ccdc150 A G 1: 54,339,526 (GRCm39) T457A probably benign Het
Cd163 T C 6: 124,306,561 (GRCm39) *1160R probably null Het
Cdc6 T C 11: 98,811,589 (GRCm39) S517P probably damaging Het
Cenpf A T 1: 189,392,166 (GRCm39) D555E possibly damaging Het
Cfap251 A G 5: 123,424,420 (GRCm39) T205A probably benign Het
Clcn1 T A 6: 42,269,900 (GRCm39) I241N probably damaging Het
Clrn2 A T 5: 45,621,061 (GRCm39) I152F probably benign Het
Col4a4 A G 1: 82,502,737 (GRCm39) I349T unknown Het
Coq8b T A 7: 26,933,428 (GRCm39) F96L probably damaging Het
Cp A T 3: 20,018,470 (GRCm39) N58I probably benign Het
Dcst1 A T 3: 89,263,718 (GRCm39) probably null Het
Dhrs3 A T 4: 144,646,546 (GRCm39) M199L possibly damaging Het
Dido1 A T 2: 180,303,675 (GRCm39) S1410T probably benign Het
Dnase1l2 C T 17: 24,661,721 (GRCm39) A13T probably damaging Het
Duox1 G A 2: 122,163,916 (GRCm39) R861Q probably benign Het
Eya2 A G 2: 165,566,609 (GRCm39) H220R probably damaging Het
Fas T G 19: 34,297,987 (GRCm39) probably null Het
Fezf1 T A 6: 23,246,948 (GRCm39) K295* probably null Het
Gldn T G 9: 54,245,721 (GRCm39) I424R possibly damaging Het
Gnptab T C 10: 88,269,376 (GRCm39) V693A probably benign Het
Gsdma A T 11: 98,563,852 (GRCm39) T269S probably benign Het
Hectd4 A T 5: 121,460,357 (GRCm39) T2209S probably benign Het
Hoxd3 A G 2: 74,577,173 (GRCm39) N351S probably benign Het
Itpkc T A 7: 26,912,404 (GRCm39) N581I possibly damaging Het
Kank3 G T 17: 34,037,375 (GRCm39) E226D probably damaging Het
Krtap5-1 A G 7: 141,850,788 (GRCm39) S7P unknown Het
Lrriq3 A G 3: 154,869,587 (GRCm39) Y304C probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mdn1 T C 4: 32,678,330 (GRCm39) S653P probably damaging Het
Mri1 A T 8: 84,980,948 (GRCm39) L194* probably null Het
Mtus1 T C 8: 41,537,302 (GRCm39) E138G probably benign Het
Myo3b G A 2: 70,117,285 (GRCm39) R906Q probably benign Het
Nckipsd C T 9: 108,689,435 (GRCm39) P199S possibly damaging Het
Or52n5 T A 7: 104,587,850 (GRCm39) I39N possibly damaging Het
Or9i16 C T 19: 13,865,116 (GRCm39) V153I possibly damaging Het
Pacsin1 T C 17: 27,925,045 (GRCm39) L253P probably damaging Het
Pcca T A 14: 122,896,188 (GRCm39) I268N probably damaging Het
Pcdhga8 A G 18: 37,949,565 (GRCm39) D327G probably damaging Het
Pnma8b T C 7: 16,680,362 (GRCm39) S449P probably benign Het
Psmb9 T C 17: 34,403,265 (GRCm39) E61G probably damaging Het
Pxylp1 A G 9: 96,721,203 (GRCm39) Y101H probably damaging Het
Radil A G 5: 142,471,213 (GRCm39) I1044T probably damaging Het
Rnf43 G A 11: 87,622,561 (GRCm39) R554H probably damaging Het
Sp5 A T 2: 70,305,659 (GRCm39) Q17L probably null Het
Spmip1 T A 6: 29,471,908 (GRCm39) L128Q possibly damaging Het
Strn C A 17: 78,977,276 (GRCm39) V211F probably damaging Het
Sult3a1 A G 10: 33,742,637 (GRCm39) D88G probably damaging Het
Trim14 T C 4: 46,522,136 (GRCm39) I180M probably benign Het
Tsnax C A 8: 125,751,278 (GRCm39) S90* probably null Het
Ttn A G 2: 76,798,780 (GRCm39) M498T probably benign Het
Vmn1r198 T A 13: 22,539,367 (GRCm39) Y195* probably null Het
Vmn2r70 T C 7: 85,215,199 (GRCm39) T112A probably benign Het
Wwc2 T C 8: 48,443,137 (GRCm39) N32S possibly damaging Het
Yme1l1 G T 2: 23,058,342 (GRCm39) R158L probably damaging Het
Zc2hc1c C A 12: 85,336,483 (GRCm39) H47N probably damaging Het
Zc3h10 C A 10: 128,381,396 (GRCm39) probably benign Het
Zfp825 T C 13: 74,629,007 (GRCm39) R170G probably benign Het
Other mutations in Pcnx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Pcnx4 APN 12 72,626,139 (GRCm39) missense probably damaging 0.97
IGL01160:Pcnx4 APN 12 72,626,151 (GRCm39) missense probably damaging 1.00
IGL01385:Pcnx4 APN 12 72,620,520 (GRCm39) missense probably damaging 1.00
IGL01452:Pcnx4 APN 12 72,621,174 (GRCm39) missense possibly damaging 0.79
IGL01984:Pcnx4 APN 12 72,621,183 (GRCm39) missense probably benign 0.25
IGL02073:Pcnx4 APN 12 72,621,102 (GRCm39) missense possibly damaging 0.92
IGL02726:Pcnx4 APN 12 72,620,986 (GRCm39) missense probably benign 0.12
IGL02824:Pcnx4 APN 12 72,602,345 (GRCm39) missense probably benign 0.02
R0007:Pcnx4 UTSW 12 72,602,353 (GRCm39) missense possibly damaging 0.79
R0158:Pcnx4 UTSW 12 72,603,076 (GRCm39) missense probably benign
R0575:Pcnx4 UTSW 12 72,614,010 (GRCm39) missense probably benign 0.00
R0783:Pcnx4 UTSW 12 72,622,252 (GRCm39) missense probably damaging 1.00
R1420:Pcnx4 UTSW 12 72,602,760 (GRCm39) missense probably benign
R1497:Pcnx4 UTSW 12 72,621,174 (GRCm39) missense probably benign 0.03
R2093:Pcnx4 UTSW 12 72,626,216 (GRCm39) missense probably damaging 1.00
R2241:Pcnx4 UTSW 12 72,620,928 (GRCm39) missense probably damaging 0.99
R2287:Pcnx4 UTSW 12 72,622,172 (GRCm39) missense probably benign 0.05
R2418:Pcnx4 UTSW 12 72,603,037 (GRCm39) missense probably damaging 1.00
R2437:Pcnx4 UTSW 12 72,588,587 (GRCm39) missense probably damaging 1.00
R2509:Pcnx4 UTSW 12 72,613,746 (GRCm39) missense probably damaging 1.00
R2510:Pcnx4 UTSW 12 72,613,746 (GRCm39) missense probably damaging 1.00
R2512:Pcnx4 UTSW 12 72,603,573 (GRCm39) critical splice acceptor site probably null
R3691:Pcnx4 UTSW 12 72,620,493 (GRCm39) missense probably damaging 1.00
R3760:Pcnx4 UTSW 12 72,613,780 (GRCm39) missense probably damaging 1.00
R3949:Pcnx4 UTSW 12 72,603,076 (GRCm39) missense probably benign
R4065:Pcnx4 UTSW 12 72,603,134 (GRCm39) critical splice donor site probably null
R4757:Pcnx4 UTSW 12 72,603,067 (GRCm39) missense probably benign 0.00
R4804:Pcnx4 UTSW 12 72,620,976 (GRCm39) missense probably benign 0.28
R4867:Pcnx4 UTSW 12 72,620,726 (GRCm39) missense probably benign 0.01
R4879:Pcnx4 UTSW 12 72,613,959 (GRCm39) missense probably damaging 1.00
R5108:Pcnx4 UTSW 12 72,620,855 (GRCm39) missense probably benign 0.01
R5350:Pcnx4 UTSW 12 72,626,138 (GRCm39) missense probably damaging 1.00
R5504:Pcnx4 UTSW 12 72,621,222 (GRCm39) missense probably damaging 1.00
R5718:Pcnx4 UTSW 12 72,613,968 (GRCm39) missense possibly damaging 0.49
R6195:Pcnx4 UTSW 12 72,603,648 (GRCm39) missense possibly damaging 0.92
R7134:Pcnx4 UTSW 12 72,613,750 (GRCm39) missense probably damaging 0.96
R7695:Pcnx4 UTSW 12 72,588,350 (GRCm39) missense probably benign 0.00
R7837:Pcnx4 UTSW 12 72,602,892 (GRCm39) missense probably damaging 1.00
R7850:Pcnx4 UTSW 12 72,602,842 (GRCm39) missense probably benign
R8153:Pcnx4 UTSW 12 72,603,017 (GRCm39) missense probably benign 0.00
R8174:Pcnx4 UTSW 12 72,603,687 (GRCm39) missense probably damaging 1.00
R8322:Pcnx4 UTSW 12 72,603,437 (GRCm39) missense probably damaging 1.00
R8340:Pcnx4 UTSW 12 72,613,851 (GRCm39) missense probably damaging 1.00
R8399:Pcnx4 UTSW 12 72,620,985 (GRCm39) missense probably benign 0.39
R8545:Pcnx4 UTSW 12 72,602,856 (GRCm39) missense probably benign 0.00
R9018:Pcnx4 UTSW 12 72,603,437 (GRCm39) missense probably damaging 1.00
R9145:Pcnx4 UTSW 12 72,603,043 (GRCm39) missense probably damaging 1.00
R9149:Pcnx4 UTSW 12 72,613,671 (GRCm39) missense probably benign
R9233:Pcnx4 UTSW 12 72,603,587 (GRCm39) missense possibly damaging 0.95
R9378:Pcnx4 UTSW 12 72,602,664 (GRCm39) missense probably damaging 1.00
R9503:Pcnx4 UTSW 12 72,588,561 (GRCm39) missense probably damaging 1.00
R9619:Pcnx4 UTSW 12 72,622,282 (GRCm39) missense possibly damaging 0.81
R9670:Pcnx4 UTSW 12 72,613,792 (GRCm39) missense probably benign 0.00
R9719:Pcnx4 UTSW 12 72,603,039 (GRCm39) missense probably damaging 1.00
R9722:Pcnx4 UTSW 12 72,603,039 (GRCm39) missense probably damaging 1.00
R9723:Pcnx4 UTSW 12 72,603,039 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTTCACACTTGCAGGGCG -3'
(R):5'- AAACAGCTTTGCAGACCATATGG -3'

Sequencing Primer
(F):5'- ACACTTGCAGGGCGTTTACAC -3'
(R):5'- CTCAGGCATTCTTGGGGCAAAG -3'
Posted On 2017-02-28