Incidental Mutation 'R2912:Panx2'
ID 261321
Institutional Source Beutler Lab
Gene Symbol Panx2
Ensembl Gene ENSMUSG00000058441
Gene Name pannexin 2
Synonyms
MMRRC Submission 040499-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2912 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 88943937-88957770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88954024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 660 (I660V)
Ref Sequence ENSEMBL: ENSMUSP00000124354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161372] [ENSMUST00000162424]
AlphaFold Q6IMP4
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159412
Predicted Effect unknown
Transcript: ENSMUST00000159960
AA Change: I50V
Predicted Effect silent
Transcript: ENSMUST00000161372
SMART Domains Protein: ENSMUSP00000125514
Gene: ENSMUSG00000058441

DomainStartEndE-ValueType
Pfam:Innexin 48 274 2.1e-11 PFAM
transmembrane domain 302 324 N/A INTRINSIC
low complexity region 429 438 N/A INTRINSIC
low complexity region 498 513 N/A INTRINSIC
low complexity region 601 617 N/A INTRINSIC
low complexity region 630 648 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161735
Predicted Effect probably benign
Transcript: ENSMUST00000162424
AA Change: I660V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000124354
Gene: ENSMUSG00000058441
AA Change: I660V

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
Pfam:Innexin 49 263 5.6e-18 PFAM
transmembrane domain 294 316 N/A INTRINSIC
low complexity region 421 430 N/A INTRINSIC
low complexity region 490 505 N/A INTRINSIC
low complexity region 593 609 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162579
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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 1 are abundantly expressed in central nervous system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a slight protection from the neurological defects induced by ischemic brain injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A T 11: 69,020,866 (GRCm39) K197M probably damaging Het
Asxl2 A G 12: 3,524,517 (GRCm39) K182E probably benign Het
Birc6 A G 17: 74,999,201 (GRCm39) D4643G probably damaging Het
Bmpr1b T C 3: 141,586,139 (GRCm39) D41G probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Creb3l1 T C 2: 91,817,398 (GRCm39) T372A possibly damaging Het
Dbn1 A G 13: 55,630,234 (GRCm39) F45L probably damaging Het
Dhx29 A G 13: 113,072,109 (GRCm39) E251G probably damaging Het
Dnajc27 C T 12: 4,146,280 (GRCm39) S103L probably damaging Het
Dync1li1 T G 9: 114,544,743 (GRCm39) N348K probably benign Het
Emc1 T C 4: 139,092,571 (GRCm39) S504P possibly damaging Het
F5 A G 1: 164,021,488 (GRCm39) D1321G probably damaging Het
Garin4 T C 1: 190,895,425 (GRCm39) N406S probably benign Het
Gpr157 G A 4: 150,183,222 (GRCm39) V131I probably benign Het
Hprt1 T C X: 52,109,016 (GRCm39) Y174H probably damaging Het
Kcnq2 A G 2: 180,723,567 (GRCm39) V603A probably damaging Het
Lama2 T C 10: 26,876,799 (GRCm39) S2716G probably benign Het
Lax1 A G 1: 133,611,791 (GRCm39) V48A possibly damaging Het
Macf1 T A 4: 123,369,704 (GRCm39) I121F probably damaging Het
Med17 A G 9: 15,187,210 (GRCm39) L188P probably damaging Het
Mfsd5 A G 15: 102,189,743 (GRCm39) T372A probably benign Het
Mrgprb5 T C 7: 47,817,815 (GRCm39) S307G probably benign Het
Mroh9 T C 1: 162,871,572 (GRCm39) Y637C probably damaging Het
Nherf2 C T 17: 24,861,215 (GRCm39) G71S probably damaging Het
Nktr T C 9: 121,578,670 (GRCm39) probably benign Het
Nrg1 A G 8: 32,308,595 (GRCm39) S474P probably damaging Het
Nup210 T G 6: 91,003,956 (GRCm39) D644A probably damaging Het
Or10ak7 A G 4: 118,791,898 (GRCm39) I47T probably benign Het
Or4c11 A T 2: 88,695,458 (GRCm39) N170Y probably benign Het
Or5j3 A G 2: 86,128,733 (GRCm39) D191G probably damaging Het
Or8g34 T C 9: 39,373,512 (GRCm39) Y259H probably damaging Het
Pramel13 T C 4: 144,119,304 (GRCm39) E421G probably damaging Het
Prx C T 7: 27,215,654 (GRCm39) P52S probably damaging Het
Ptprf A G 4: 118,106,177 (GRCm39) S206P probably damaging Het
Rbm45 C T 2: 76,205,798 (GRCm39) P217S probably benign Het
Rfx6 A G 10: 51,594,226 (GRCm39) D382G probably damaging Het
Ric3 A G 7: 108,653,660 (GRCm39) F144L possibly damaging Het
Snx29 C T 16: 11,265,317 (GRCm39) R516W probably damaging Het
Trank1 T C 9: 111,221,551 (GRCm39) S2763P probably damaging Het
Vmn1r42 T C 6: 89,821,688 (GRCm39) M294V probably benign Het
Zfp467 C A 6: 48,416,010 (GRCm39) R214L possibly damaging Het
Zfp750 C A 11: 121,403,153 (GRCm39) A532S probably benign Het
Zscan4d G A 7: 10,896,614 (GRCm39) P252L probably benign Het
Other mutations in Panx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01951:Panx2 APN 15 88,952,970 (GRCm39) missense probably damaging 0.99
IGL02112:Panx2 APN 15 88,953,772 (GRCm39) missense probably benign
IGL03384:Panx2 APN 15 88,952,322 (GRCm39) missense possibly damaging 0.85
F6893:Panx2 UTSW 15 88,952,213 (GRCm39) missense probably damaging 1.00
R0453:Panx2 UTSW 15 88,952,610 (GRCm39) missense probably damaging 1.00
R1990:Panx2 UTSW 15 88,953,941 (GRCm39) missense possibly damaging 0.95
R3826:Panx2 UTSW 15 88,952,664 (GRCm39) missense probably damaging 1.00
R4424:Panx2 UTSW 15 88,952,423 (GRCm39) missense probably benign 0.02
R4593:Panx2 UTSW 15 88,952,118 (GRCm39) missense probably damaging 1.00
R5176:Panx2 UTSW 15 88,944,431 (GRCm39) missense probably damaging 1.00
R5328:Panx2 UTSW 15 88,952,298 (GRCm39) missense probably damaging 0.99
R5333:Panx2 UTSW 15 88,952,742 (GRCm39) missense possibly damaging 0.58
R5381:Panx2 UTSW 15 88,944,433 (GRCm39) missense probably damaging 1.00
R5412:Panx2 UTSW 15 88,953,135 (GRCm39) missense possibly damaging 0.79
R5450:Panx2 UTSW 15 88,953,162 (GRCm39) missense possibly damaging 0.74
R5989:Panx2 UTSW 15 88,944,455 (GRCm39) missense probably damaging 1.00
R6255:Panx2 UTSW 15 88,951,821 (GRCm39) missense probably damaging 1.00
R7585:Panx2 UTSW 15 88,952,169 (GRCm39) missense probably damaging 1.00
R7685:Panx2 UTSW 15 88,951,973 (GRCm39) missense possibly damaging 0.65
R7899:Panx2 UTSW 15 88,952,936 (GRCm39) missense possibly damaging 0.74
R8030:Panx2 UTSW 15 88,952,282 (GRCm39) missense probably damaging 1.00
R9458:Panx2 UTSW 15 88,952,058 (GRCm39) missense probably damaging 1.00
R9458:Panx2 UTSW 15 88,952,057 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GGGATCATTCCATGTCTGCTCAC -3'
(R):5'- CACTTGTGGATGCCATGGTG -3'

Sequencing Primer
(F):5'- GCCGCTGCTTCCCTGTC -3'
(R):5'- CGTGGCATGCAGACAGG -3'
Posted On 2015-01-23