Incidental Mutation 'R6873:Panx1'
ID 536262
Institutional Source Beutler Lab
Gene Symbol Panx1
Ensembl Gene ENSMUSG00000031934
Gene Name pannexin 1
Synonyms
MMRRC Submission 044970-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6873 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 14917081-14956774 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14921513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 121 (Y121N)
Ref Sequence ENSEMBL: ENSMUSP00000126405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056755] [ENSMUST00000164273] [ENSMUST00000169288]
AlphaFold Q9JIP4
Predicted Effect probably benign
Transcript: ENSMUST00000056755
SMART Domains Protein: ENSMUSP00000053557
Gene: ENSMUSG00000031934

DomainStartEndE-ValueType
Pfam:Innexin 31 102 1.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164273
AA Change: Y121N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126405
Gene: ENSMUSG00000031934
AA Change: Y121N

DomainStartEndE-ValueType
Pfam:Innexin 33 256 2.1e-16 PFAM
transmembrane domain 274 296 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166933
Predicted Effect probably benign
Transcript: ENSMUST00000169288
Meta Mutation Damage Score 0.6888 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired macrophage recruitment, YO-PRO-1 dye uptake, ATP release by apoptotic thymocytes, hippocampal neurons, and astrocytes. Mice homozygous for a different knock-out allele exhibit protection from I/R-induced retinal ganglion cell loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,138 (GRCm39) D123G probably benign Het
Agbl4 A G 4: 111,423,856 (GRCm39) D294G possibly damaging Het
Apob G T 12: 8,065,995 (GRCm39) M4288I probably benign Het
Arnt T G 3: 95,381,886 (GRCm39) F160V probably damaging Het
Atp5f1a C T 18: 77,863,540 (GRCm39) R42* probably null Het
Bhlha15 A G 5: 144,128,203 (GRCm39) D105G probably benign Het
C6 A G 15: 4,820,461 (GRCm39) T491A probably benign Het
Calhm5 G C 10: 33,968,448 (GRCm39) R202G probably damaging Het
Caskin1 A G 17: 24,723,153 (GRCm39) E647G probably benign Het
Col11a2 A G 17: 34,283,993 (GRCm39) D1579G unknown Het
Dctn2 T G 10: 127,112,105 (GRCm39) probably null Het
Eqtn A G 4: 94,815,258 (GRCm39) V80A probably damaging Het
Etl4 A G 2: 20,802,803 (GRCm39) probably null Het
Fbxo10 T C 4: 45,041,787 (GRCm39) D814G possibly damaging Het
Galnt10 A G 11: 57,672,045 (GRCm39) D445G probably damaging Het
Gm6309 T C 5: 146,104,998 (GRCm39) D305G probably damaging Het
Grap2 G A 15: 80,527,874 (GRCm39) V107I probably damaging Het
Igsf10 C T 3: 59,235,865 (GRCm39) A1439T probably benign Het
Krt5 G A 15: 101,621,312 (GRCm39) probably benign Het
Lancl2 A G 6: 57,699,642 (GRCm39) I152M possibly damaging Het
Mast3 A T 8: 71,239,236 (GRCm39) C447* probably null Het
Mef2b A G 8: 70,618,957 (GRCm39) I180V probably benign Het
Mon1b T C 8: 114,368,697 (GRCm39) Y533H probably damaging Het
Mst1r A T 9: 107,788,843 (GRCm39) H454L possibly damaging Het
Nhlrc4 G A 17: 26,162,496 (GRCm39) Q84* probably null Het
Nlk A G 11: 78,481,774 (GRCm39) I229T possibly damaging Het
Nlrp6 T C 7: 140,503,433 (GRCm39) I513T probably benign Het
Or1j12 A T 2: 36,343,508 (GRCm39) I304F probably benign Het
Or2n1 A T 17: 38,486,259 (GRCm39) M95L probably benign Het
Or4c108 T C 2: 88,803,768 (GRCm39) T156A probably benign Het
Pfkfb4 A C 9: 108,839,403 (GRCm39) probably null Het
Setbp1 A G 18: 78,902,774 (GRCm39) S298P probably benign Het
Sh3bgr A C 16: 96,007,691 (GRCm39) K19Q probably damaging Het
Slc35c2 T C 2: 165,124,729 (GRCm39) D82G possibly damaging Het
Spata13 T A 14: 60,929,406 (GRCm39) D321E probably benign Het
Stab2 A G 10: 86,697,230 (GRCm39) probably null Het
Sulf2 T A 2: 165,931,195 (GRCm39) I271F probably damaging Het
Sult2a5 A T 7: 13,359,311 (GRCm39) I96L probably benign Het
Sv2b A G 7: 74,855,954 (GRCm39) F112S probably damaging Het
Sycp1 G A 3: 102,748,296 (GRCm39) T832I probably benign Het
Tm9sf2 A T 14: 122,382,525 (GRCm39) E179V probably damaging Het
Tmem209 A G 6: 30,508,455 (GRCm39) I66T probably damaging Het
Tspan10 T C 11: 120,335,549 (GRCm39) W220R probably damaging Het
Ttc39b G C 4: 83,164,513 (GRCm39) N266K probably damaging Het
Uri1 A T 7: 37,664,764 (GRCm39) D309E probably benign Het
Zfhx3 C T 8: 109,527,273 (GRCm39) R1057W probably damaging Het
Other mutations in Panx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Panx1 APN 9 14,919,140 (GRCm39) missense probably damaging 0.97
IGL01364:Panx1 APN 9 14,932,761 (GRCm39) missense probably damaging 1.00
IGL02831:Panx1 APN 9 14,918,944 (GRCm39) missense probably damaging 1.00
IGL02861:Panx1 APN 9 14,919,101 (GRCm39) missense probably benign
cathedral UTSW 9 14,918,929 (GRCm39) missense possibly damaging 0.53
elephant UTSW 9 14,921,513 (GRCm39) missense probably damaging 1.00
notre_dame UTSW 9 14,921,513 (GRCm39) missense probably damaging 1.00
R0422:Panx1 UTSW 9 14,919,112 (GRCm39) nonsense probably null
R0602:Panx1 UTSW 9 14,921,500 (GRCm39) missense probably damaging 1.00
R1509:Panx1 UTSW 9 14,921,341 (GRCm39) missense possibly damaging 0.53
R1681:Panx1 UTSW 9 14,919,079 (GRCm39) missense probably benign 0.13
R1862:Panx1 UTSW 9 14,918,724 (GRCm39) missense probably damaging 1.00
R1895:Panx1 UTSW 9 14,918,822 (GRCm39) missense probably benign 0.13
R1937:Panx1 UTSW 9 14,918,980 (GRCm39) missense possibly damaging 0.68
R1946:Panx1 UTSW 9 14,918,822 (GRCm39) missense probably benign 0.13
R2447:Panx1 UTSW 9 14,956,185 (GRCm39) missense probably damaging 0.99
R3732:Panx1 UTSW 9 14,917,467 (GRCm39) unclassified probably benign
R3732:Panx1 UTSW 9 14,917,467 (GRCm39) unclassified probably benign
R3733:Panx1 UTSW 9 14,917,467 (GRCm39) unclassified probably benign
R3734:Panx1 UTSW 9 14,917,467 (GRCm39) unclassified probably benign
R3958:Panx1 UTSW 9 14,917,467 (GRCm39) unclassified probably benign
R3960:Panx1 UTSW 9 14,917,467 (GRCm39) unclassified probably benign
R4744:Panx1 UTSW 9 14,921,594 (GRCm39) intron probably benign
R4990:Panx1 UTSW 9 14,921,513 (GRCm39) missense probably damaging 1.00
R5272:Panx1 UTSW 9 14,956,152 (GRCm39) critical splice donor site probably null
R5556:Panx1 UTSW 9 14,918,929 (GRCm39) missense possibly damaging 0.53
R5935:Panx1 UTSW 9 14,921,513 (GRCm39) missense probably damaging 1.00
R6126:Panx1 UTSW 9 14,919,086 (GRCm39) missense probably benign 0.38
R6683:Panx1 UTSW 9 14,919,307 (GRCm39) missense probably benign 0.41
R6743:Panx1 UTSW 9 14,918,929 (GRCm39) missense possibly damaging 0.53
R7944:Panx1 UTSW 9 14,919,125 (GRCm39) missense probably damaging 1.00
R8061:Panx1 UTSW 9 14,956,297 (GRCm39) missense possibly damaging 0.58
Z1177:Panx1 UTSW 9 14,919,110 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATTCTCAGTCACTCCTGGG -3'
(R):5'- GTCAGCTCTGGGTCAGATATC -3'

Sequencing Primer
(F):5'- GGGTCCAGGTCCGTCTCTTAG -3'
(R):5'- GCTCTGGGTCAGATATCTATACAAGC -3'
Posted On 2018-10-18