Incidental Mutation 'R5494:Gjb5'
ID 432227
Institutional Source Beutler Lab
Gene Symbol Gjb5
Ensembl Gene ENSMUSG00000042357
Gene Name gap junction protein, beta 5
Synonyms Cnx31.1, Cx31.1, Gjb-5, connexin 31.1
MMRRC Submission 043055-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R5494 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 127248600-127251957 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127249347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 266 (V266M)
Ref Sequence ENSEMBL: ENSMUSP00000045325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046498] [ENSMUST00000060419] [ENSMUST00000106090]
AlphaFold Q02739
Predicted Effect probably damaging
Transcript: ENSMUST00000046498
AA Change: V266M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045325
Gene: ENSMUSG00000042357
AA Change: V266M

DomainStartEndE-ValueType
low complexity region 25 38 N/A INTRINSIC
CNX 42 75 1.99e-19 SMART
Connexin_CCC 139 206 1.42e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060419
SMART Domains Protein: ENSMUSP00000053307
Gene: ENSMUSG00000046623

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
CNX 42 75 9.16e-19 SMART
low complexity region 98 103 N/A INTRINSIC
Connexin_CCC 141 208 6.28e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106090
SMART Domains Protein: ENSMUSP00000101696
Gene: ENSMUSG00000046623

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
CNX 42 75 9.16e-19 SMART
low complexity region 98 103 N/A INTRINSIC
Connexin_CCC 141 208 6.28e-35 SMART
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.4%
  • 10x: 95.3%
  • 20x: 91.3%
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 beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality, reduced weight and reduced placental development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak9 A G 10: 41,223,165 (GRCm39) E436G probably damaging Het
Aldh18a1 C T 19: 40,539,734 (GRCm39) R747Q probably damaging Het
Apob A G 12: 8,061,762 (GRCm39) N3415D probably damaging Het
Asb18 T C 1: 89,882,121 (GRCm39) E139G probably damaging Het
Atrn T C 2: 130,864,995 (GRCm39) L1374P probably damaging Het
Ccdc81 A G 7: 89,526,781 (GRCm39) S410P probably damaging Het
Cep112 A G 11: 108,555,431 (GRCm39) E809G probably damaging Het
Dctn1 G T 6: 83,159,546 (GRCm39) R8L possibly damaging Het
Ddn C A 15: 98,704,884 (GRCm39) R82L probably damaging Het
Dgkz A T 2: 91,771,394 (GRCm39) probably null Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Frem1 T C 4: 82,858,990 (GRCm39) *415W probably null Het
Fry A T 5: 150,314,132 (GRCm39) D789V probably damaging Het
Fzr1 C T 10: 81,207,178 (GRCm39) probably null Het
Gemin5 T A 11: 58,021,526 (GRCm39) Y1025F probably damaging Het
Gli3 A T 13: 15,900,567 (GRCm39) Q1318L probably benign Het
Golgb1 T A 16: 36,749,045 (GRCm39) N3056K possibly damaging Het
Gucy1b1 T A 3: 81,947,183 (GRCm39) D342V probably damaging Het
H1f9 T C 11: 94,858,843 (GRCm39) L46S probably benign Het
Hc A T 2: 34,893,551 (GRCm39) probably null Het
Heg1 A G 16: 33,545,804 (GRCm39) D185G probably benign Het
Igf2r A T 17: 12,912,032 (GRCm39) M1865K possibly damaging Het
Il27 A G 7: 126,192,100 (GRCm39) L12P probably damaging Het
Krt1 C T 15: 101,759,149 (GRCm39) C5Y unknown Het
Med25 C T 7: 44,535,225 (GRCm39) V170M probably damaging Het
Mgat4a T A 1: 37,493,898 (GRCm39) Y316F probably damaging Het
Oas3 A G 5: 120,899,709 (GRCm39) V725A unknown Het
Or52ac1 C A 7: 104,245,932 (GRCm39) G152V probably damaging Het
Or5w16 T C 2: 87,576,950 (GRCm39) S137P probably damaging Het
Pcdhb17 T C 18: 37,620,300 (GRCm39) S697P probably damaging Het
Plch2 T C 4: 155,075,579 (GRCm39) Y751C probably damaging Het
Rbms2 G T 10: 127,973,560 (GRCm39) T252N probably damaging Het
Rbpjl GCC GC 2: 164,256,330 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Scfd1 A G 12: 51,443,522 (GRCm39) probably null Het
Shank3 C T 15: 89,432,441 (GRCm39) T1062M probably damaging Het
Slc28a1 G A 7: 80,817,787 (GRCm39) G552E probably damaging Het
Sntn A G 14: 13,682,214 (GRCm38) R96G probably benign Het
Tas2r102 T C 6: 132,740,106 (GRCm39) V338A probably benign Het
Trim62 A T 4: 128,778,999 (GRCm39) N145Y possibly damaging Het
Tspoap1 C T 11: 87,666,031 (GRCm39) T863I possibly damaging Het
Ubr5 C T 15: 38,019,525 (GRCm39) C739Y possibly damaging Het
Vps13c G A 9: 67,855,428 (GRCm39) V2498I probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Gjb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02814:Gjb5 APN 4 127,249,355 (GRCm39) missense probably benign 0.03
IGL03376:Gjb5 APN 4 127,250,048 (GRCm39) missense probably damaging 1.00
PIT4508001:Gjb5 UTSW 4 127,250,033 (GRCm39) missense probably damaging 0.99
R2090:Gjb5 UTSW 4 127,249,794 (GRCm39) missense probably benign 0.01
R2197:Gjb5 UTSW 4 127,250,063 (GRCm39) splice site probably null
R4968:Gjb5 UTSW 4 127,250,015 (GRCm39) missense probably damaging 1.00
R5419:Gjb5 UTSW 4 127,249,652 (GRCm39) missense probably benign
R5664:Gjb5 UTSW 4 127,249,722 (GRCm39) missense probably benign 0.00
R5806:Gjb5 UTSW 4 127,249,718 (GRCm39) missense probably benign
R6369:Gjb5 UTSW 4 127,249,723 (GRCm39) missense possibly damaging 0.58
R6408:Gjb5 UTSW 4 127,249,940 (GRCm39) missense probably benign 0.24
R7747:Gjb5 UTSW 4 127,249,955 (GRCm39) missense probably damaging 1.00
R8488:Gjb5 UTSW 4 127,250,078 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGCACAACTGGATCCCAAAG -3'
(R):5'- GACTGCTTCATTGCCAAGC -3'

Sequencing Primer
(F):5'- ACTGGATCCCAAAGCTCTGG -3'
(R):5'- AACCTTGTGGAGCTGATCTACCTAG -3'
Posted On 2016-10-05