Incidental Mutation 'R1955:Gja5'
ID 217648
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 039969-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1955 (G1)
Quality Score 225
Status Not 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: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T A 1: 53,202,400 (GRCm39) K128N probably benign Het
Acadm A C 3: 153,635,188 (GRCm39) F309V probably damaging Het
Adam6b C A 12: 113,455,436 (GRCm39) A751E probably benign Het
Adcy9 A G 16: 4,236,523 (GRCm39) I296T possibly damaging Het
Arhgap45 A G 10: 79,862,326 (GRCm39) E471G probably benign Het
Atcay T C 10: 81,050,627 (GRCm39) D96G possibly damaging Het
B3galt4 T A 17: 34,169,606 (GRCm39) R211* probably null Het
Bpi T C 2: 158,116,635 (GRCm39) I344T probably damaging Het
Btnl4 T C 17: 34,691,904 (GRCm39) K233E possibly damaging Het
Cars2 A T 8: 11,600,286 (GRCm39) Y68N probably damaging Het
Cd207 T A 6: 83,648,757 (GRCm39) R302W probably benign Het
Cdc5l T C 17: 45,737,442 (GRCm39) probably null Het
Chaf1a C T 17: 56,354,540 (GRCm39) T270I unknown Het
Col4a1 C T 8: 11,258,228 (GRCm39) probably null Het
Col7a1 G T 9: 108,784,732 (GRCm39) V187L unknown Het
Cry1 G A 10: 84,980,042 (GRCm39) T422I probably benign Het
Csgalnact1 C T 8: 68,825,319 (GRCm39) V392I probably benign Het
Cyp2c38 A G 19: 39,393,131 (GRCm39) L312P probably damaging Het
Ddx20 G A 3: 105,586,878 (GRCm39) T489M possibly damaging Het
Decr1 A T 4: 15,924,256 (GRCm39) N221K probably benign Het
Dennd4a A T 9: 64,759,749 (GRCm39) T285S probably benign Het
Dgka A G 10: 128,566,058 (GRCm39) probably null Het
Dmd A T X: 82,922,163 (GRCm39) M1478L probably benign Het
Dvl1 G A 4: 155,942,486 (GRCm39) R584Q possibly damaging Het
Dync1li1 A T 9: 114,550,814 (GRCm39) S450C probably damaging Het
Ehbp1l1 A G 19: 5,760,697 (GRCm39) V1558A possibly damaging Het
Esr1 T A 10: 4,807,125 (GRCm39) M347K probably damaging Het
F2 T A 2: 91,463,440 (GRCm39) H148L probably benign Het
Fezf2 T C 14: 12,342,644 (GRCm38) N407S probably benign Het
Fscn3 T A 6: 28,430,235 (GRCm39) M135K possibly damaging Het
Ganab T G 19: 8,888,980 (GRCm39) Y560* probably null Het
Garem2 T C 5: 30,313,268 (GRCm39) V44A probably benign Het
Gja4 A G 4: 127,206,242 (GRCm39) W174R probably damaging Het
Gm43517 A G 12: 49,436,672 (GRCm39) probably benign Het
Iqch A T 9: 63,455,298 (GRCm39) D166E probably benign Het
Kifc5b T A 17: 27,145,271 (GRCm39) probably null Het
Kmt2b A T 7: 30,274,776 (GRCm39) M1976K possibly damaging Het
Leng1 A T 7: 3,668,415 (GRCm39) V11D probably damaging Het
Lrit3 A G 3: 129,594,130 (GRCm39) V149A probably benign Het
Lrpap1 A G 5: 35,259,756 (GRCm39) L114P probably damaging Het
Marveld3 T A 8: 110,686,380 (GRCm39) D162V probably benign Het
Mon2 A T 10: 122,874,388 (GRCm39) I320N probably damaging Het
Morc2b T C 17: 33,356,464 (GRCm39) Y436C probably damaging Het
Myo7a A T 7: 97,704,128 (GRCm39) V1928D probably damaging Het
Ncoa6 A G 2: 155,248,741 (GRCm39) V1521A possibly damaging Het
Nexmif A G X: 103,127,559 (GRCm39) S1453P possibly damaging Het
Nudt16l1 A G 16: 4,758,189 (GRCm39) M182V probably benign Het
Obp2b A T 2: 25,628,563 (GRCm39) I106L probably benign Het
Or10ag59 T A 2: 87,406,349 (GRCm39) L307Q probably damaging Het
Or4a2 T A 2: 89,248,755 (GRCm39) M1L probably damaging Het
Or5h18 T A 16: 58,847,774 (GRCm39) R165S probably damaging Het
Or8b43 T C 9: 38,360,984 (GRCm39) I272T probably benign Het
Parl T A 16: 20,121,077 (GRCm39) M1L possibly damaging Het
Pde7a G A 3: 19,281,963 (GRCm39) A429V probably damaging Het
Pkd1l2 T A 8: 117,770,100 (GRCm39) M1119L probably benign Het
Plch1 C T 3: 63,662,688 (GRCm39) V272I probably damaging Het
Plekha4 G A 7: 45,203,330 (GRCm39) G740D probably damaging Het
Pnliprp1 A G 19: 58,723,404 (GRCm39) D265G possibly damaging Het
Pola1 A C X: 92,640,867 (GRCm39) V384G probably damaging Het
Pon3 T A 6: 5,230,774 (GRCm39) D251V probably benign Het
Pot1b A G 17: 55,981,067 (GRCm39) C316R possibly damaging Het
Prkaca T A 8: 84,714,946 (GRCm39) V116E probably damaging Het
Prpf6 T G 2: 181,273,870 (GRCm39) M338R probably benign Het
Rasgef1c A G 11: 49,866,542 (GRCm39) H382R possibly damaging Het
Rlig1 A G 10: 100,413,166 (GRCm39) V91A probably damaging Het
Rps25 C T 9: 44,321,305 (GRCm39) T113I probably benign Het
Serpinb1b G T 13: 33,269,422 (GRCm39) A52S probably benign Het
Sh3yl1 A G 12: 30,972,332 (GRCm39) K34E possibly damaging Het
Siah2 C T 3: 58,583,518 (GRCm39) R256Q probably damaging Het
Slc24a2 A G 4: 86,991,481 (GRCm39) L404P probably damaging Het
Slc28a2 G A 2: 122,278,347 (GRCm39) C122Y probably benign Het
Slc4a8 T C 15: 100,705,257 (GRCm39) I821T probably damaging Het
Slc5a3 T C 16: 91,874,762 (GRCm39) V273A possibly damaging Het
Spag7 T C 11: 70,555,844 (GRCm39) Q61R probably benign Het
Syt7 A T 19: 10,395,402 (GRCm39) I71F probably damaging Het
Tars2 T C 3: 95,654,766 (GRCm39) N413S probably damaging Het
Tex14 T A 11: 87,400,447 (GRCm39) L413Q probably damaging Het
Tjp3 T C 10: 81,113,833 (GRCm39) E475G probably damaging Het
Tmem131l A G 3: 83,868,851 (GRCm39) S175P probably damaging Het
Tmem144 C T 3: 79,734,164 (GRCm39) V180M probably benign Het
Tmem200c A T 17: 69,147,956 (GRCm39) I180F probably damaging Het
Tmem232 G T 17: 65,791,482 (GRCm39) H129N probably benign Het
Tmprss11g T A 5: 86,646,391 (GRCm39) I59F probably damaging Het
Tmprss2 T A 16: 97,368,377 (GRCm39) probably null Het
Tor1aip2 T A 1: 155,927,588 (GRCm39) probably benign Het
Trim61 T C 8: 65,466,044 (GRCm39) I406V possibly damaging Het
Trpv5 T C 6: 41,634,871 (GRCm39) D486G probably damaging Het
Try5 T C 6: 41,288,703 (GRCm39) E64G probably benign Het
Txlnb A G 10: 17,675,168 (GRCm39) E107G probably damaging Het
Ube2frt A G 12: 36,140,595 (GRCm39) probably benign Het
Uckl1 T C 2: 181,212,320 (GRCm39) Q332R probably benign Het
Ugt2b1 T C 5: 87,065,572 (GRCm39) Y489C probably damaging Het
Ugt2b5 T A 5: 87,275,631 (GRCm39) M407L probably benign Het
Vmn1r191 A T 13: 22,362,985 (GRCm39) S256R possibly damaging Het
Vps13b T G 15: 35,925,554 (GRCm39) probably null Het
Vps13d A G 4: 144,882,713 (GRCm39) F960S probably damaging Het
Xab2 T A 8: 3,666,094 (GRCm39) D227V probably damaging Het
Xaf1 A T 11: 72,197,432 (GRCm39) D136V possibly damaging Het
Zan A G 5: 137,387,545 (GRCm39) S4889P unknown Het
Zfp78 A G 7: 6,381,558 (GRCm39) T203A probably benign Het
Zfp821 T C 8: 110,447,874 (GRCm39) S72P probably damaging Het
Other mutations in Gja5
AlleleSourceChrCoordTypePredicted EffectPPH Score
kapow UTSW 3 96,958,071 (GRCm39) missense possibly damaging 0.81
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
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'- CTCCGGAGAGAAATTCTTCAGCG -3'
(R):5'- TGAATGCCAATGAATGCCACC -3'

Sequencing Primer
(F):5'- CGGAGAGAAATTCTTCAGCGACTTC -3'
(R):5'- GACCCAGGACAGACAGAGC -3'
Posted On 2014-08-01