Incidental Mutation 'R6743:Panx1'
ID 532742
Institutional Source Beutler Lab
Gene Symbol Panx1
Ensembl Gene ENSMUSG00000031934
Gene Name pannexin 1
Synonyms
MMRRC Submission 044860-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6743 (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 G at 14918929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 310 (I310T)
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 possibly damaging
Transcript: ENSMUST00000164273
AA Change: I310T

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126405
Gene: ENSMUSG00000031934
AA Change: I310T

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 0.2252 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (39/39)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 C T 17: 31,327,321 (GRCm39) R339C possibly damaging Het
Adamts6 G A 13: 104,565,436 (GRCm39) G721R probably damaging Het
Adnp2 A G 18: 80,171,274 (GRCm39) V1045A probably benign Het
Agbl3 T C 6: 34,823,888 (GRCm39) I856T probably benign Het
Anapc1 T A 2: 128,526,454 (GRCm39) K115* probably null Het
Arc A G 15: 74,543,636 (GRCm39) S196P probably benign Het
Atp10a T C 7: 58,447,562 (GRCm39) I768T possibly damaging Het
Blk C T 14: 63,622,375 (GRCm39) R55H probably benign Het
Ccdc158 T C 5: 92,810,005 (GRCm39) S168G probably benign Het
Cda G T 4: 138,066,253 (GRCm39) T128K probably benign Het
Celsr1 T A 15: 85,791,799 (GRCm39) T2601S probably damaging Het
Dmxl1 T C 18: 50,013,847 (GRCm39) V1545A possibly damaging Het
Dst T A 1: 34,309,971 (GRCm39) N6264K probably damaging Het
Ednra T C 8: 78,401,718 (GRCm39) S191G probably damaging Het
Elk3 A T 10: 93,100,912 (GRCm39) S280T possibly damaging Het
Etnk1 A G 6: 143,126,343 (GRCm39) I63V possibly damaging Het
Fscb A G 12: 64,518,347 (GRCm39) S1040P unknown Het
Gm14295 T G 2: 176,502,420 (GRCm39) C637G probably damaging Het
Gm5114 T C 7: 39,057,997 (GRCm39) T541A probably benign Het
Man2c1 T C 9: 57,042,849 (GRCm39) F240L probably benign Het
Map2 A T 1: 66,454,766 (GRCm39) I1219L probably benign Het
Map3k13 A G 16: 21,711,173 (GRCm39) Y152C probably damaging Het
Morc1 G A 16: 48,322,683 (GRCm39) A327T probably damaging Het
Myo3a A T 2: 22,366,475 (GRCm39) Y553F probably benign Het
Myo9b T A 8: 71,804,803 (GRCm39) probably null Het
Or14j1 A C 17: 38,146,694 (GRCm39) D268A probably damaging Het
Or5b3 C T 19: 13,387,957 (GRCm39) T8I probably damaging Het
Pam A G 1: 97,823,774 (GRCm39) V219A probably benign Het
Pde6a T A 18: 61,397,057 (GRCm39) F634L possibly damaging Het
Pkd1l2 C A 8: 117,757,370 (GRCm39) C1556F probably damaging Het
Prdm5 G A 6: 65,860,635 (GRCm39) V440I probably damaging Het
Rasa2 T C 9: 96,493,493 (GRCm39) T64A probably damaging Het
Sec24b A T 3: 129,834,881 (GRCm39) Y106N probably damaging Het
Sfswap C T 5: 129,627,883 (GRCm39) Q689* probably null Het
Slamf8 C T 1: 172,417,965 (GRCm39) probably null Het
Tektl1 G A 10: 78,588,726 (GRCm39) T28M probably benign Het
Tmt1a3 A G 15: 100,233,123 (GRCm39) K105E probably benign Het
Tsr1 T C 11: 74,799,177 (GRCm39) V786A probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zmynd10 T C 9: 107,425,079 (GRCm39) I58T possibly 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
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
(F):5'- ATCATGCCCAGGTTTGTCAGG -3'
(R):5'- TCTCGGACGAGTTTCTGTGC -3'

Sequencing Primer
(F):5'- CCCAGGTTTGTCAGGAGTAGC -3'
(R):5'- TTCTGTGCAGCATCAAATCAGGC -3'
Posted On 2018-08-29