Incidental Mutation 'R7649:Gja5'
ID 590675
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 045646-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7649 (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 T at 96958957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 338 (H338L)
Ref Sequence ENSEMBL: ENSMUSP00000143542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072600] [ENSMUST00000132256] [ENSMUST00000199597]
AlphaFold Q01231
Predicted Effect probably benign
Transcript: ENSMUST00000072600
AA Change: H338L

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000088264
Gene: ENSMUSG00000057123
AA Change: H338L

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 noncoding transcript
Transcript: ENSMUST00000197696
Predicted Effect probably benign
Transcript: ENSMUST00000199597
AA Change: H338L

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143542
Gene: ENSMUSG00000057123
AA Change: H338L

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (57/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b T C 5: 26,053,364 (GRCm39) V319A probably benign Het
Adam28 T A 14: 68,872,282 (GRCm39) Y320F probably benign Het
Adam4 T C 12: 81,467,151 (GRCm39) Y490C probably damaging Het
Ampd3 G T 7: 110,377,049 (GRCm39) L13F probably benign Het
Arhgap45 C A 10: 79,866,835 (GRCm39) Q1113K probably benign Het
Arid5b T C 10: 67,954,175 (GRCm39) T370A possibly damaging Het
Arl15 A G 13: 114,104,208 (GRCm39) D115G possibly damaging Het
AW146154 G A 7: 41,130,156 (GRCm39) T320I probably benign Het
Cdh17 C T 4: 11,814,698 (GRCm39) P751L probably damaging Het
Chchd4 C T 6: 91,444,754 (GRCm39) R11Q probably benign Het
Clta T G 4: 44,025,494 (GRCm39) I140R possibly damaging Het
Cnpy1 T C 5: 28,412,282 (GRCm39) T84A probably benign Het
Cpne5 T C 17: 29,445,172 (GRCm39) D44G probably damaging Het
Crkl T C 16: 17,270,366 (GRCm39) S9P unknown Het
Csmd3 T C 15: 47,532,539 (GRCm39) D1641G Het
Ctnnd2 A G 15: 31,027,630 (GRCm39) T1185A probably benign Het
Dlc1 A T 8: 37,049,894 (GRCm39) L607Q probably damaging Het
Dpy19l2 T C 9: 24,607,459 (GRCm39) M1V probably null Het
Dst T C 1: 34,206,778 (GRCm39) V982A probably benign Het
Fam135b T C 15: 71,334,429 (GRCm39) I922V probably benign Het
Fbxl13 T C 5: 21,819,664 (GRCm39) E245G probably benign Het
Fcgbp T C 7: 27,790,928 (GRCm39) S730P possibly damaging Het
Ggt1 T C 10: 75,421,290 (GRCm39) V468A possibly damaging Het
Herpud2 T C 9: 25,021,902 (GRCm39) E248G possibly damaging Het
Il17rd C A 14: 26,761,167 (GRCm39) A36E probably benign Het
Irf2bpl T C 12: 86,929,572 (GRCm39) Y367C possibly damaging Het
Lama1 T A 17: 68,044,549 (GRCm39) D149E Het
Lipf A T 19: 33,943,098 (GRCm39) E135D possibly damaging Het
Manea T A 4: 26,328,234 (GRCm39) D269V probably damaging Het
Megf6 A G 4: 154,349,542 (GRCm39) Y910C probably damaging Het
Mical3 G A 6: 120,911,909 (GRCm39) R1928W probably damaging Het
Or13c3 G A 4: 52,855,692 (GRCm39) Q274* probably null Het
Or5b108 T A 19: 13,168,136 (GRCm39) I35N possibly damaging Het
Plch1 G T 3: 63,605,590 (GRCm39) S1438* probably null Het
Por T C 5: 135,763,359 (GRCm39) F595L probably damaging Het
Prkcg G A 7: 3,378,480 (GRCm39) R634H probably benign Het
Prr14l C T 5: 32,985,589 (GRCm39) G1302D probably benign Het
Rcan3 A T 4: 135,139,799 (GRCm39) S135T probably benign Het
Rnf223 A G 4: 156,216,660 (GRCm39) M12V probably benign Het
Rps6kb2 A G 19: 4,207,020 (GRCm39) S483P unknown Het
Sacs T A 14: 61,440,677 (GRCm39) F908I possibly damaging Het
Slc4a9 A G 18: 36,661,430 (GRCm39) Q64R probably benign Het
Slco4c1 T A 1: 96,756,667 (GRCm39) I552F probably benign Het
Sppl2b C T 10: 80,703,253 (GRCm39) P505L probably benign Het
Sptbn4 A G 7: 27,061,002 (GRCm39) S2434P possibly damaging Het
Ssh1 A T 5: 114,088,612 (GRCm39) M395K probably benign Het
Stk10 A T 11: 32,527,764 (GRCm39) I171F Het
Tmx3 C T 18: 90,558,154 (GRCm39) A402V probably damaging Het
Tnfrsf13c T C 15: 82,108,341 (GRCm39) D58G possibly damaging Het
Tnk1 T C 11: 69,744,403 (GRCm39) probably null Het
Trav14n-3 A T 14: 53,607,951 (GRCm39) N94Y probably damaging Het
Trav5-4 A T 14: 53,941,902 (GRCm39) K92* probably null Het
Tsga10 C T 1: 37,874,229 (GRCm39) R190H unknown Het
Zfhx3 T C 8: 109,678,276 (GRCm39) F3109L probably benign Het
Zfhx4 A G 3: 5,307,170 (GRCm39) Y132C probably damaging Het
Zfp521 T C 18: 13,977,413 (GRCm39) E1000G probably damaging 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
R8796:Gja5 UTSW 3 96,958,419 (GRCm39) missense possibly damaging 0.88
R9497:Gja5 UTSW 3 96,958,801 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GCTCCGGAGAGAAATTCTTCAGC -3'
(R):5'- GAATGCCAATGAATGCCACC -3'

Sequencing Primer
(F):5'- CGGAGAGAAATTCTTCAGCGACTTC -3'
(R):5'- GACCCAGGACAGACAGAGC -3'
Posted On 2019-10-24