Incidental Mutation 'R2260:Gja4'
ID 243712
Institutional Source Beutler Lab
Gene Symbol Gja4
Ensembl Gene ENSMUSG00000050234
Gene Name gap junction protein, alpha 4
Synonyms connexin 37, Gja-4, Cx37, Cnx37
MMRRC Submission 040260-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2260 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 127205214-127207832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 127206623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 47 (D47Y)
Ref Sequence ENSEMBL: ENSMUSP00000062320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053753]
AlphaFold P28235
Predicted Effect probably damaging
Transcript: ENSMUST00000053753
AA Change: D47Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062320
Gene: ENSMUSG00000050234
AA Change: D47Y

DomainStartEndE-ValueType
CNX 43 76 1.01e-20 SMART
Connexin_CCC 165 231 8.28e-44 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes 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 have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutant females are sterile and oocyte development arrests prior to achieving meiotic competence. There is a lack of mature Graafian follicles, failure to ovulate, and formation of premature corpora lutea. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,354,978 (GRCm39) N1252I probably damaging Het
Acot5 A T 12: 84,122,643 (GRCm39) H409L possibly damaging Het
Adgrv1 A T 13: 81,716,493 (GRCm39) V840E probably damaging Het
Adnp2 A T 18: 80,171,664 (GRCm39) M915K probably benign Het
Cd101 G C 3: 100,924,261 (GRCm39) L393V possibly damaging Het
Cd177 A G 7: 24,455,661 (GRCm39) V287A possibly damaging Het
Cdc37l1 A T 19: 28,984,448 (GRCm39) K194N probably benign Het
Cep126 T C 9: 8,101,749 (GRCm39) T262A possibly damaging Het
Chit1 A G 1: 134,078,865 (GRCm39) S392G probably benign Het
Col11a2 A G 17: 34,258,651 (GRCm39) H8R probably benign Het
Dusp12 C T 1: 170,708,580 (GRCm39) R120H probably damaging Het
Eln C A 5: 134,758,508 (GRCm39) A126S unknown Het
Entpd2 C T 2: 25,288,099 (GRCm39) P108S probably damaging Het
Fkbp6 C T 5: 135,366,468 (GRCm39) probably null Het
Ftcd T A 10: 76,423,893 (GRCm39) probably null Het
Gdf10 T C 14: 33,654,234 (GRCm39) L247P probably damaging Het
Gigyf1 C A 5: 137,518,594 (GRCm39) A215E possibly damaging Het
Gsn G A 2: 35,180,349 (GRCm39) G130E probably damaging Het
Hrc C A 7: 44,986,105 (GRCm39) R419S possibly damaging Het
Itfg1 C T 8: 86,449,306 (GRCm39) C576Y probably damaging Het
Lama1 G T 17: 68,044,502 (GRCm39) A134S probably damaging Het
Larp4 T G 15: 99,895,277 (GRCm39) F283L possibly damaging Het
Marveld2 A G 13: 100,748,978 (GRCm39) S34P probably benign Het
Mettl18 T A 1: 163,824,394 (GRCm39) D238E probably benign Het
Mfn1 G T 3: 32,617,575 (GRCm39) E74* probably null Het
Mfn2 C A 4: 147,979,063 (GRCm39) E90* probably null Het
Mill2 T A 7: 18,590,413 (GRCm39) D164E probably benign Het
Ncapd3 A G 9: 26,967,368 (GRCm39) D568G probably benign Het
Nt5c1b A T 12: 10,424,965 (GRCm39) R170S probably damaging Het
Or10ak11 T C 4: 118,687,359 (GRCm39) I93V probably damaging Het
Or4c100 G A 2: 88,356,730 (GRCm39) V268I possibly damaging Het
Or5bw2 A T 7: 6,573,022 (GRCm39) I11F probably damaging Het
Or8d1b T C 9: 38,887,296 (GRCm39) V108A probably benign Het
Pald1 G A 10: 61,188,750 (GRCm39) R87W probably damaging Het
Paox T A 7: 139,713,967 (GRCm39) Y242* probably null Het
Pde2a A T 7: 101,133,774 (GRCm39) D85V probably damaging Het
Pitrm1 C T 13: 6,610,161 (GRCm39) T411I probably damaging Het
Pkd1l3 A G 8: 110,350,268 (GRCm39) Q371R probably benign Het
Plaat5 C T 19: 7,590,111 (GRCm39) R46C probably damaging Het
Ptprk A G 10: 28,082,145 (GRCm39) D38G possibly damaging Het
Rag2 G A 2: 101,460,583 (GRCm39) E298K probably benign Het
Rbm12b2 G A 4: 12,095,061 (GRCm39) R640H probably benign Het
Rcsd1 C T 1: 165,486,998 (GRCm39) A72T probably benign Het
Rims2 G T 15: 39,341,962 (GRCm39) E604* probably null Het
Rin2 A G 2: 145,720,824 (GRCm39) D719G probably damaging Het
Sash1 G A 10: 8,662,142 (GRCm39) Q155* probably null Het
Tacr1 A T 6: 82,380,756 (GRCm39) I56F probably damaging Het
Tbc1d4 G A 14: 101,731,847 (GRCm39) T455M probably damaging Het
Tex24 C T 8: 27,834,883 (GRCm39) T137I probably damaging Het
Tmem200a A C 10: 25,869,313 (GRCm39) S319A probably benign Het
Tmem242 G T 17: 5,483,745 (GRCm39) A99E probably damaging Het
Tmem30a C T 9: 79,681,446 (GRCm39) R277H probably benign Het
Tmprss11f G A 5: 86,739,269 (GRCm39) A4V probably benign Het
Triobp T G 15: 78,875,640 (GRCm39) probably null Het
Tshz2 A T 2: 169,728,326 (GRCm39) Q505L probably benign Het
Ttyh1 T C 7: 4,131,183 (GRCm39) V218A probably damaging Het
Vmn2r11 A T 5: 109,201,657 (GRCm39) Y282* probably null Het
Vps13c A G 9: 67,861,142 (GRCm39) N2891S probably benign Het
Xpo5 C T 17: 46,551,822 (GRCm39) Q1050* probably null Het
Other mutations in Gja4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02479:Gja4 APN 4 127,206,217 (GRCm39) missense probably benign 0.02
R0652:Gja4 UTSW 4 127,205,920 (GRCm39) missense probably benign 0.37
R1635:Gja4 UTSW 4 127,206,472 (GRCm39) missense probably damaging 0.97
R1955:Gja4 UTSW 4 127,206,242 (GRCm39) missense probably damaging 1.00
R2206:Gja4 UTSW 4 127,206,410 (GRCm39) missense probably benign 0.00
R2258:Gja4 UTSW 4 127,206,623 (GRCm39) missense probably damaging 1.00
R7237:Gja4 UTSW 4 127,205,956 (GRCm39) missense probably benign 0.00
R7363:Gja4 UTSW 4 127,206,487 (GRCm39) missense probably damaging 1.00
R9158:Gja4 UTSW 4 127,206,466 (GRCm39) missense probably damaging 1.00
T0722:Gja4 UTSW 4 127,206,024 (GRCm39) missense probably benign
T0975:Gja4 UTSW 4 127,206,024 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTACATGTAGGTCCTTGGATGG -3'
(R):5'- TGAGAAAGGCTTTGTGCTGC -3'

Sequencing Primer
(F):5'- AGGTCCTTGGATGGCAGCG -3'
(R):5'- TGCTGATGGCCCTCTGAC -3'
Posted On 2014-10-16