Incidental Mutation 'IGL01667:Gjc2'
ID103330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjc2
Ensembl Gene ENSMUSG00000043448
Gene Namegap junction protein, gamma 2
SynonymsB230382L12Rik, connexin 47, Gja12, Cx47
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01667
Quality Score
Status
Chromosome11
Chromosomal Location59175568-59183213 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 59177518 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 46 (I46S)
Ref Sequence ENSEMBL: ENSMUSP00000104421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108790] [ENSMUST00000108793]
Predicted Effect probably damaging
Transcript: ENSMUST00000108790
AA Change: I46S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104418
Gene: ENSMUSG00000043448
AA Change: I46S

DomainStartEndE-ValueType
CNX 45 78 3.37e-17 SMART
low complexity region 101 127 N/A INTRINSIC
low complexity region 128 142 N/A INTRINSIC
low complexity region 143 193 N/A INTRINSIC
Connexin_CCC 222 288 9.88e-42 SMART
low complexity region 298 330 N/A INTRINSIC
low complexity region 347 372 N/A INTRINSIC
low complexity region 388 405 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108793
AA Change: I46S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104421
Gene: ENSMUSG00000043448
AA Change: I46S

DomainStartEndE-ValueType
CNX 45 78 3.37e-17 SMART
low complexity region 101 127 N/A INTRINSIC
low complexity region 128 142 N/A INTRINSIC
low complexity region 143 193 N/A INTRINSIC
Connexin_CCC 222 288 9.88e-42 SMART
low complexity region 298 330 N/A INTRINSIC
low complexity region 347 372 N/A INTRINSIC
low complexity region 388 405 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one null allele are viable and behaviorally normal with no CNS demyelination detected in the spinal cord. In contrast, mice homozygous for a different null allele display a conspicuous vacuolation of CNS nerve fibers, especially in the myelinated region of the optic nerve. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,570,019 T57A probably damaging Het
Akna G T 4: 63,379,159 T886N probably benign Het
Aqp9 A G 9: 71,138,213 V38A probably benign Het
Awat2 C T X: 100,404,254 G124D probably damaging Het
Camsap1 A G 2: 25,945,281 probably benign Het
Catsperg2 T C 7: 29,710,133 Y545C probably damaging Het
Cldn23 A G 8: 35,825,920 F138S possibly damaging Het
Clec4a3 A C 6: 122,952,860 probably benign Het
Dlgap3 C A 4: 127,233,897 T786K probably benign Het
Dnah2 A C 11: 69,544,395 S50A probably benign Het
Dnah2 A T 11: 69,520,941 I285N probably damaging Het
Dnah7a A G 1: 53,547,292 Y1467H probably damaging Het
Fgf22 C T 10: 79,756,754 P115L probably damaging Het
Fzd2 G T 11: 102,605,782 V351L possibly damaging Het
Gapdhs T A 7: 30,736,637 E174V possibly damaging Het
Gm5581 T C 6: 131,167,772 noncoding transcript Het
Krt2 C A 15: 101,816,330 V282L possibly damaging Het
Myh15 G A 16: 49,195,579 V1873M probably benign Het
Myo1b T C 1: 51,760,377 T931A probably damaging Het
Myo6 A T 9: 80,289,893 K965N unknown Het
Olfr1441 T C 19: 12,422,756 V149A probably benign Het
Pcnx3 T C 19: 5,686,630 R160G probably benign Het
Slc22a16 T C 10: 40,585,018 I272T probably damaging Het
Slc35b4 A G 6: 34,167,675 Y82H possibly damaging Het
Spdya T C 17: 71,556,259 M1T probably null Het
St6gal1 A G 16: 23,321,424 N115S probably benign Het
Tbc1d12 A T 19: 38,914,300 probably benign Het
Tfrc A G 16: 32,624,443 probably benign Het
Trip11 A C 12: 101,878,862 F1539C probably damaging Het
Ttn A T 2: 76,781,078 I15624N possibly damaging Het
Vmn1r169 A T 7: 23,577,800 M206L probably benign Het
Zfp362 A G 4: 128,787,109 L141P probably damaging Het
Zfp692 A G 11: 58,311,553 H378R probably damaging Het
Zfp799 T C 17: 32,821,820 Q52R possibly damaging Het
Other mutations in Gjc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02191:Gjc2 APN 11 59177560 missense probably damaging 0.99
FR4342:Gjc2 UTSW 11 59182743 unclassified probably benign
R0086:Gjc2 UTSW 11 59176846 missense probably benign 0.39
R0201:Gjc2 UTSW 11 59177590 missense possibly damaging 0.79
R1478:Gjc2 UTSW 11 59177608 missense possibly damaging 0.66
R5211:Gjc2 UTSW 11 59177458 missense possibly damaging 0.77
R5395:Gjc2 UTSW 11 59177489 missense possibly damaging 0.95
R5560:Gjc2 UTSW 11 59177359 missense possibly damaging 0.66
R5906:Gjc2 UTSW 11 59176841 missense probably benign 0.39
R6909:Gjc2 UTSW 11 59177092 missense unknown
R7055:Gjc2 UTSW 11 59177030 missense unknown
R7241:Gjc2 UTSW 11 59177134 missense unknown
Z1177:Gjc2 UTSW 11 59177617 missense probably damaging 1.00
Posted On2014-01-21