Incidental Mutation 'R8796:Gja5'
ID 671242
Institutional Source Beutler Lab
Gene Symbol Gja5
Ensembl Gene ENSMUSG00000057123
Gene Name gap junction protein, alpha 5
Synonyms connexin 40, Cx40, Gja-5
MMRRC Submission 068637-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8796 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 96939718-96960950 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96958419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 159 (I159V)
Ref Sequence ENSEMBL: ENSMUSP00000143542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072600] [ENSMUST00000132256] [ENSMUST00000199597]
AlphaFold Q01231
Predicted Effect possibly damaging
Transcript: ENSMUST00000072600
AA Change: I159V

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088264
Gene: ENSMUSG00000057123
AA Change: I159V

DomainStartEndE-ValueType
CNX 43 76 3.47e-19 SMART
Connexin_CCC 163 229 2.45e-37 SMART
Pfam:Connexin40_C 257 358 8.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132256
SMART Domains Protein: ENSMUSP00000123582
Gene: ENSMUSG00000057123

DomainStartEndE-ValueType
CNX 43 76 3.47e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000199597
AA Change: I159V

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143542
Gene: ENSMUSG00000057123
AA Change: I159V

DomainStartEndE-ValueType
CNX 43 76 3.47e-19 SMART
Connexin_CCC 163 229 2.45e-37 SMART
Pfam:Connexin40_C 257 358 2.4e-33 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (51/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit hypertension, cardiac arrhythmias, reduced atrial and ventricular conduction velocities, and impaired conductance of vasodilation in arterioles of skeletal muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,629,482 (GRCm39) T182S possibly damaging Het
Abca12 A C 1: 71,297,248 (GRCm39) probably benign Het
Aco1 T A 4: 40,179,037 (GRCm39) D345E probably benign Het
Acp6 T C 3: 97,066,509 (GRCm39) V9A probably benign Het
Akap1 A C 11: 88,730,498 (GRCm39) I597S probably damaging Het
B4galnt4 C T 7: 140,647,488 (GRCm39) T385I probably damaging Het
Bbof1 A T 12: 84,460,068 (GRCm39) T112S possibly damaging Het
Chd7 C A 4: 8,838,691 (GRCm39) H1297N probably damaging Het
Cldn15 T C 5: 137,003,351 (GRCm39) F147L probably damaging Het
Coq7 C T 7: 118,126,640 (GRCm39) E143K probably damaging Het
Ctnnb1 A G 9: 120,784,498 (GRCm39) N430S probably damaging Het
Cxcl12 G T 6: 117,155,553 (GRCm39) K92N possibly damaging Het
Dscaml1 T C 9: 45,359,026 (GRCm39) F95S probably damaging Het
Epha5 T A 5: 84,255,850 (GRCm39) H480L probably damaging Het
Fbxo30 G A 10: 11,165,320 (GRCm39) C14Y probably damaging Het
Herc2 A T 7: 55,785,123 (GRCm39) Q1487L probably benign Het
Hipk2 T A 6: 38,675,158 (GRCm39) Q1168L probably damaging Het
Kcnk12 T A 17: 88,054,020 (GRCm39) Y214F probably damaging Het
Kif5b T C 18: 6,226,965 (GRCm39) K98E probably benign Het
Lama1 T A 17: 68,117,146 (GRCm39) N2480K Het
Lrp1b A G 2: 40,793,426 (GRCm39) C2610R Het
Mast4 T C 13: 102,919,899 (GRCm39) Y536C probably benign Het
Ntrk1 A G 3: 87,690,422 (GRCm39) S407P probably benign Het
Ogdh T A 11: 6,297,129 (GRCm39) M527K possibly damaging Het
Or51b6 T C 7: 103,556,201 (GRCm39) V182A Het
Or5m9b G A 2: 85,905,518 (GRCm39) V145M possibly damaging Het
Plxdc1 A G 11: 97,847,407 (GRCm39) S89P probably benign Het
Prdm2 A G 4: 142,860,017 (GRCm39) I1091T probably benign Het
Psg16 C A 7: 16,827,814 (GRCm39) H166N possibly damaging Het
Qrfpr T A 3: 36,234,345 (GRCm39) Y332F probably damaging Het
Rab31 A T 17: 66,079,529 (GRCm39) I4K possibly damaging Het
Ranbp10 C A 8: 106,499,665 (GRCm39) probably benign Het
Rasgrf2 T C 13: 92,038,685 (GRCm39) S453G Het
Rxfp2 C T 5: 149,942,262 (GRCm39) probably benign Het
S100a8 A G 3: 90,576,865 (GRCm39) E6G probably damaging Het
Sart1 T C 19: 5,438,376 (GRCm39) K94E probably damaging Het
Sema4d A T 13: 51,865,546 (GRCm39) F297I probably damaging Het
Sgk2 A G 2: 162,848,723 (GRCm39) K287E probably damaging Het
Sgsm1 T A 5: 113,411,123 (GRCm39) T868S probably benign Het
Skint6 G T 4: 112,661,891 (GRCm39) T1231K possibly damaging Het
Slc35b3 C T 13: 39,121,722 (GRCm39) probably benign Het
Slf1 A T 13: 77,214,784 (GRCm39) M634K probably benign Het
Slit2 A G 5: 48,460,190 (GRCm39) D1424G probably benign Het
Snx21 G A 2: 164,628,749 (GRCm39) V131I possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Tas1r3 A G 4: 155,945,848 (GRCm39) V516A probably benign Het
Tas2r120 A T 6: 132,634,081 (GRCm39) R54S probably damaging Het
Tmem109 A T 19: 10,849,995 (GRCm39) L99Q probably damaging Het
Tnfrsf1b A G 4: 144,946,485 (GRCm39) S309P possibly damaging Het
Trav11 C T 14: 53,757,227 (GRCm39) A85V probably benign Het
Trp53 G A 11: 69,480,434 (GRCm39) R267H possibly damaging Het
Ttn G A 2: 76,653,314 (GRCm39) R12631C possibly damaging Het
Vmn2r10 T A 5: 109,143,917 (GRCm39) T678S possibly damaging Het
Vmn2r124 T C 17: 18,282,933 (GRCm39) M209T possibly damaging Het
Vmn2r24 A T 6: 123,757,500 (GRCm39) M123L probably benign Het
Wdr41 T G 13: 95,151,575 (GRCm39) L245R possibly damaging Het
Wwp2 G T 8: 108,283,189 (GRCm39) G814W probably null Het
Other mutations in Gja5
AlleleSourceChrCoordTypePredicted EffectPPH Score
kapow UTSW 3 96,958,071 (GRCm39) missense possibly damaging 0.81
R1955:Gja5 UTSW 3 96,958,957 (GRCm39) missense probably benign 0.14
R7196:Gja5 UTSW 3 96,958,422 (GRCm39) missense probably damaging 1.00
R7226:Gja5 UTSW 3 96,958,174 (GRCm39) missense probably damaging 1.00
R7623:Gja5 UTSW 3 96,958,071 (GRCm39) missense possibly damaging 0.81
R7649:Gja5 UTSW 3 96,958,957 (GRCm39) missense probably benign 0.14
R9497:Gja5 UTSW 3 96,958,801 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CTCTAGTGTACATGGGCCATG -3'
(R):5'- AGGTGGTAGAGTTCAGCCAG -3'

Sequencing Primer
(F):5'- CATGCCATGCACACTGTG -3'
(R):5'- TGAGAAACAGAGACAGTCCAGCC -3'
Posted On 2021-04-30