Incidental Mutation 'R6126:Panx1'
ID 487403
Institutional Source Beutler Lab
Gene Symbol Panx1
Ensembl Gene ENSMUSG00000031934
Gene Name pannexin 1
MMRRC Submission 044273-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6126 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 14917081-14956774 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14919086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 258 (I258F)
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

Pfam:Innexin 31 102 1.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164273
AA Change: I258F

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126405
Gene: ENSMUSG00000031934
AA Change: I258F

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 93% (51/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 89,963,881 (GRCm39) R111H probably damaging Het
Alk G A 17: 72,182,037 (GRCm39) L1329F possibly damaging Het
Apoh A T 11: 108,288,199 (GRCm39) I106F probably damaging Het
Atp8a2 C T 14: 60,281,775 (GRCm39) M126I probably benign Het
Cactin G A 10: 81,160,143 (GRCm39) R412H possibly damaging Het
Chd7 T C 4: 8,826,482 (GRCm39) S949P probably damaging Het
Clec11a C T 7: 43,954,345 (GRCm39) A203T probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dst T A 1: 34,267,264 (GRCm39) I5080K probably damaging Het
Ecd T C 14: 20,388,493 (GRCm39) probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fan1 T A 7: 64,014,318 (GRCm39) K638* probably null Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Fig4 A G 10: 41,141,443 (GRCm39) I272T probably damaging Het
Foxd2 C A 4: 114,765,702 (GRCm39) G106V unknown Het
Ggcx A T 6: 72,394,966 (GRCm39) M115L possibly damaging Het
Gm21976 G A 13: 98,423,821 (GRCm39) R72H unknown Het
Hsf2 T C 10: 57,372,013 (GRCm39) V38A probably damaging Het
Ifi208 A G 1: 173,505,274 (GRCm39) Y8C possibly damaging Het
Il31ra A C 13: 112,666,908 (GRCm39) L390R probably damaging Het
Kif1a A T 1: 92,947,621 (GRCm39) Y1614N probably damaging Het
Mef2b C A 8: 70,619,526 (GRCm39) T267K probably benign Het
Mfsd8 A G 3: 40,786,446 (GRCm39) probably null Het
Mnx1 G T 5: 29,683,110 (GRCm39) A55E possibly damaging Het
Muc5ac A T 7: 141,354,969 (GRCm39) I949F possibly damaging Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Ntpcr G A 8: 126,462,626 (GRCm39) probably null Het
Or12j3 T G 7: 139,953,166 (GRCm39) Y119S probably damaging Het
Otx1 T C 11: 21,946,457 (GRCm39) probably benign Het
Pask T C 1: 93,242,081 (GRCm39) Y1212C probably damaging Het
Pdgfra A G 5: 75,331,190 (GRCm39) K265R probably benign Het
Phf20l1 A G 15: 66,508,673 (GRCm39) H844R probably benign Het
Ppp6r1 T C 7: 4,646,376 (GRCm39) T136A possibly damaging Het
Rab35 A G 5: 115,783,767 (GRCm39) N185D probably benign Het
Rdh1 A T 10: 127,599,083 (GRCm39) D188V probably damaging Het
Rimbp3 A T 16: 17,030,140 (GRCm39) D1188V probably benign Het
Robo2 C T 16: 73,717,570 (GRCm39) G100S probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ryr1 A C 7: 28,775,664 (GRCm39) D2282E probably null Het
Ryr3 A G 2: 112,588,015 (GRCm39) L2642P probably damaging Het
Sez6 A T 11: 77,864,630 (GRCm39) Y530F probably damaging Het
Slc12a2 A G 18: 58,077,116 (GRCm39) Y1205C possibly damaging Het
Slc4a5 A T 6: 83,203,247 (GRCm39) H49L probably benign Het
Smchd1 A T 17: 71,677,280 (GRCm39) V1503D probably damaging Het
Spata31e3 G T 13: 50,400,326 (GRCm39) Q667K probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Tex15 A G 8: 34,063,591 (GRCm39) N1007S probably benign Het
Tpk1 A T 6: 43,400,594 (GRCm39) C143S probably damaging Het
Wdr20 A T 12: 110,760,536 (GRCm39) H474L probably benign Het
Wnk4 A G 11: 101,167,174 (GRCm39) probably benign Het
Zfp292 T C 4: 34,808,497 (GRCm39) T1516A probably benign Het
Zfp462 G A 4: 55,023,573 (GRCm39) A2121T probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L 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
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
R6873:Panx1 UTSW 9 14,921,513 (GRCm39) missense probably damaging 1.00
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

Sequencing Primer
Posted On 2017-10-10