Incidental Mutation 'R1862:Panx1'
ID204041
Institutional Source Beutler Lab
Gene Symbol Panx1
Ensembl Gene ENSMUSG00000031934
Gene Namepannexin 1
Synonyms
MMRRC Submission 039885-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1862 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location15002128-15045478 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 15007428 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 378 (D378E)
Ref Sequence ENSEMBL: ENSMUSP00000126405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056755] [ENSMUST00000164273] [ENSMUST00000169288]
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: D378E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126405
Gene: ENSMUSG00000031934
AA Change: D378E

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 90.5%
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 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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 T A 14: 8,241,416 E565D probably benign Het
Adam30 A T 3: 98,162,113 K421* probably null Het
Atp6v1b1 A G 6: 83,749,852 probably null Het
Cacna1a A T 8: 84,415,930 I96F possibly damaging Het
Card10 G A 15: 78,780,514 R747W probably damaging Het
Cdh8 T A 8: 99,190,394 D363V probably damaging Het
Cecr2 T C 6: 120,757,941 Y685H probably damaging Het
Cmklr1 T C 5: 113,614,407 T178A probably damaging Het
Col16a1 G A 4: 130,092,782 probably null Het
Col4a1 C T 8: 11,226,439 probably benign Het
Coro2a T A 4: 46,548,797 I166F possibly damaging Het
Cry2 T C 2: 92,424,566 H148R probably damaging Het
Crygd T C 1: 65,061,974 Y154C probably benign Het
Cubn T C 2: 13,308,561 Y3066C probably damaging Het
Defb15 C T 8: 21,929,986 E42K possibly damaging Het
Dnah12 A G 14: 26,697,398 D147G probably benign Het
Dnah12 A T 14: 26,709,257 Y340F probably benign Het
Dot1l G T 10: 80,783,539 R193L probably damaging Het
Dupd1 A G 14: 21,686,689 V115A probably benign Het
Esd A C 14: 74,742,074 Y119S probably damaging Het
Esp36 A G 17: 38,419,439 probably benign Het
Etfbkmt T A 6: 149,144,151 M1K probably null Het
Exph5 A G 9: 53,376,248 H1543R probably benign Het
Fam92a C T 4: 12,155,717 V306I possibly damaging Het
Fbxo16 A G 14: 65,270,803 T23A probably damaging Het
Gm11492 A G 11: 87,567,235 H145R possibly damaging Het
Gm6614 T C 6: 142,003,423 M76V possibly damaging Het
Gorasp2 C A 2: 70,679,464 H136Q probably damaging Het
Hdc T A 2: 126,597,933 I367F probably benign Het
Hmcn1 C T 1: 150,638,900 V3574M probably benign Het
Ilvbl A G 10: 78,584,124 D592G probably benign Het
Inmt G A 6: 55,174,883 A34V probably damaging Het
Ints9 A C 14: 65,026,413 H378P probably benign Het
Kcnh7 T A 2: 62,787,754 I464L possibly damaging Het
Kcnt2 T A 1: 140,425,330 V259D probably damaging Het
Lipo1 A G 19: 33,784,692 F135S probably damaging Het
Lrba T C 3: 86,773,203 probably null Het
Mapk1 T A 16: 17,026,429 S22T probably benign Het
Mbd3l2 T C 9: 18,444,921 S181P possibly damaging Het
Mgat5 C T 1: 127,459,969 P554L probably damaging Het
Mki67 T C 7: 135,699,361 T1315A probably benign Het
Mprip C T 11: 59,758,221 T917M possibly damaging Het
Mroh3 T A 1: 136,185,988 I688F probably benign Het
Myo1d A T 11: 80,663,048 Y536N probably damaging Het
Neb C T 2: 52,162,187 probably null Het
Noc2l A G 4: 156,237,708 R161G probably benign Het
Nup54 T A 5: 92,419,567 I375L possibly damaging Het
Nup93 T C 8: 94,306,102 F539L probably damaging Het
Olfr138 A G 17: 38,275,344 E191G probably damaging Het
Olfr417 T A 1: 174,369,452 H178Q probably damaging Het
Olfr480 A C 7: 108,066,725 Y24* probably null Het
Olfr874 T A 9: 37,746,968 M278K probably benign Het
Papss1 T A 3: 131,583,184 V170D possibly damaging Het
Pcnx T C 12: 81,918,732 S558P probably damaging Het
Pde3a T A 6: 141,250,353 I255N probably damaging Het
Pde3a G T 6: 141,487,513 A757S probably damaging Het
Pdzph1 A G 17: 58,922,583 Y1027H probably damaging Het
Pkhd1 G T 1: 20,551,020 R805S probably benign Het
Polr1a G A 6: 71,909,203 G14D probably damaging Het
Prg4 T A 1: 150,460,669 D60V probably damaging Het
Ptprc T C 1: 138,112,227 S311G probably benign Het
Rapgefl1 G A 11: 98,842,209 R205K probably benign Het
Rcan2 A T 17: 44,037,089 probably null Het
Rock1 A G 18: 10,079,207 I1087T probably damaging Het
Sectm1b A G 11: 121,054,942 I191T possibly damaging Het
Setd1b T C 5: 123,147,613 S241P unknown Het
Srpk2 T C 5: 23,524,150 K497R probably benign Het
Sspo T C 6: 48,491,006 S4296P probably damaging Het
Syne4 T C 7: 30,316,883 V168A probably benign Het
Tank T C 2: 61,649,912 F264S probably damaging Het
Ticrr T C 7: 79,695,207 S1607P probably damaging Het
Trim30a A G 7: 104,411,198 V457A probably damaging Het
Trim43b T A 9: 89,085,571 K336N probably damaging Het
Trim47 T C 11: 116,106,137 Q598R probably damaging Het
Tspan12 T C 6: 21,851,023 N18S probably damaging Het
Ubap2 A G 4: 41,221,607 S231P probably benign Het
Vit A G 17: 78,622,746 D380G probably damaging Het
Vmn2r2 T C 3: 64,134,521 N258D possibly damaging Het
Vmn2r52 C T 7: 10,173,406 C131Y possibly damaging Het
Zadh2 T C 18: 84,095,318 V373A possibly damaging Het
Zfp58 A T 13: 67,491,188 F395I probably damaging Het
Zfp940 C A 7: 29,845,010 G491C probably damaging Het
Other mutations in Panx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Panx1 APN 9 15007844 missense probably damaging 0.97
IGL01364:Panx1 APN 9 15021465 missense probably damaging 1.00
IGL02831:Panx1 APN 9 15007648 missense probably damaging 1.00
IGL02861:Panx1 APN 9 15007805 missense probably benign
cathedral UTSW 9 15007633 missense possibly damaging 0.53
elephant UTSW 9 15010217 missense probably damaging 1.00
notre_dame UTSW 9 15010217 missense probably damaging 1.00
R0422:Panx1 UTSW 9 15007816 nonsense probably null
R0602:Panx1 UTSW 9 15010204 missense probably damaging 1.00
R1509:Panx1 UTSW 9 15010045 missense possibly damaging 0.53
R1681:Panx1 UTSW 9 15007783 missense probably benign 0.13
R1895:Panx1 UTSW 9 15007526 missense probably benign 0.13
R1937:Panx1 UTSW 9 15007684 missense possibly damaging 0.68
R1946:Panx1 UTSW 9 15007526 missense probably benign 0.13
R2447:Panx1 UTSW 9 15044889 missense probably damaging 0.99
R3732:Panx1 UTSW 9 15006171 unclassified probably benign
R3732:Panx1 UTSW 9 15006171 unclassified probably benign
R3733:Panx1 UTSW 9 15006171 unclassified probably benign
R3734:Panx1 UTSW 9 15006171 unclassified probably benign
R3958:Panx1 UTSW 9 15006171 unclassified probably benign
R3960:Panx1 UTSW 9 15006171 unclassified probably benign
R4744:Panx1 UTSW 9 15010298 intron probably benign
R4990:Panx1 UTSW 9 15010217 missense probably damaging 1.00
R5272:Panx1 UTSW 9 15044856 critical splice donor site probably null
R5556:Panx1 UTSW 9 15007633 missense possibly damaging 0.53
R5935:Panx1 UTSW 9 15010217 missense probably damaging 1.00
R6126:Panx1 UTSW 9 15007790 missense probably benign 0.38
R6683:Panx1 UTSW 9 15008011 missense probably benign 0.41
R6743:Panx1 UTSW 9 15007633 missense possibly damaging 0.53
R6873:Panx1 UTSW 9 15010217 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAGGATAACACCAATTTGTCCCTG -3'
(R):5'- AATCCTGCCCACCTTCGATG -3'

Sequencing Primer
(F):5'- GATAACACCAATTTGTCCCTGTATCC -3'
(R):5'- GTTCTACATTTCAAGTCTGAAGGC -3'
Posted On2014-06-23