Incidental Mutation 'IGL03165:Cacng2'
ID 411603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacng2
Ensembl Gene ENSMUSG00000019146
Gene Name calcium channel, voltage-dependent, gamma subunit 2
Synonyms TARP gamma 2, B930041E13Rik, B230105C07Rik, stargazin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03165
Quality Score
Status
Chromosome 15
Chromosomal Location 77875948-78004228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77879863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 153 (I153N)
Ref Sequence ENSEMBL: ENSMUSP00000019290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019290]
AlphaFold O88602
Predicted Effect possibly damaging
Transcript: ENSMUST00000019290
AA Change: I153N

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019290
Gene: ENSMUSG00000019146
AA Change: I153N

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 6 197 8.4e-60 PFAM
Pfam:Claudin_2 18 198 2.8e-23 PFAM
low complexity region 228 243 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.] The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygotes for mutant alleles show growth retardation, movement anomalies including ataxic gait, tremor and head tossing, and neocortical spike-wave seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,133,475 (GRCm39) I334V probably benign Het
Axdnd1 T A 1: 156,205,959 (GRCm39) Y519F probably benign Het
C4b A G 17: 34,958,929 (GRCm39) F500S probably benign Het
Ces1d T A 8: 93,916,147 (GRCm39) H160L probably benign Het
Cnnm3 T G 1: 36,564,313 (GRCm39) probably benign Het
Ctnna3 A G 10: 64,781,720 (GRCm39) T728A probably damaging Het
Cyp2g1 G A 7: 26,509,201 (GRCm39) V92M possibly damaging Het
Dock2 C A 11: 34,578,360 (GRCm39) V35F probably damaging Het
Eif2a C A 3: 58,456,049 (GRCm39) Y349* probably null Het
Erp44 C T 4: 48,236,872 (GRCm39) probably null Het
Flg2 C T 3: 93,121,918 (GRCm39) H1363Y unknown Het
Flnc G T 6: 29,449,377 (GRCm39) G1425W probably damaging Het
Frem3 A G 8: 81,339,158 (GRCm39) N484D probably benign Het
Fstl3 A G 10: 79,615,799 (GRCm39) D95G probably benign Het
Gldc A G 19: 30,076,393 (GRCm39) S1018P possibly damaging Het
Gstk1 T G 6: 42,226,368 (GRCm39) I159S probably benign Het
Herc2 A G 7: 55,841,660 (GRCm39) E3513G probably damaging Het
Hpca A T 4: 129,012,383 (GRCm39) I51N probably damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Igkv4-74 T C 6: 69,162,289 (GRCm39) probably benign Het
Kdm7a C A 6: 39,147,848 (GRCm39) probably benign Het
Or1e23 A T 11: 73,407,710 (GRCm39) L105* probably null Het
Or52z14 T C 7: 103,253,218 (GRCm39) I119T probably damaging Het
Or5al6 A C 2: 85,976,412 (GRCm39) L222R possibly damaging Het
Pa2g4 A T 10: 128,394,929 (GRCm39) probably null Het
Pdlim3 T A 8: 46,372,035 (GRCm39) L360Q possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polk T A 13: 96,653,196 (GRCm39) Q68L probably benign Het
Ppfia2 T G 10: 106,603,348 (GRCm39) L195R probably damaging Het
Ranbp1 A T 16: 18,065,145 (GRCm39) probably benign Het
Rbm12b1 A G 4: 12,145,845 (GRCm39) R606G possibly damaging Het
Ryr1 A G 7: 28,804,465 (GRCm39) V488A probably benign Het
Sall2 A T 14: 52,551,625 (GRCm39) D521E probably damaging Het
Sntg1 A T 1: 8,515,328 (GRCm39) C402S probably damaging Het
Spg7 T C 8: 123,807,551 (GRCm39) probably null Het
Stk31 G A 6: 49,422,198 (GRCm39) E750K probably damaging Het
Tlr2 A G 3: 83,745,255 (GRCm39) I276T probably benign Het
Trav12-2 A T 14: 53,854,206 (GRCm39) H60L probably benign Het
Urb1 A G 16: 90,577,192 (GRCm39) L775S probably damaging Het
Utp14b A G 1: 78,642,237 (GRCm39) D45G probably damaging Het
Other mutations in Cacng2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1560:Cacng2 UTSW 15 77,897,518 (GRCm39) missense probably benign 0.18
R1682:Cacng2 UTSW 15 78,002,997 (GRCm39) missense probably damaging 1.00
R2026:Cacng2 UTSW 15 77,879,720 (GRCm39) missense possibly damaging 0.48
R2047:Cacng2 UTSW 15 78,003,037 (GRCm39) missense probably damaging 1.00
R6057:Cacng2 UTSW 15 78,002,991 (GRCm39) missense probably damaging 1.00
R7326:Cacng2 UTSW 15 77,897,520 (GRCm39) nonsense probably null
R8432:Cacng2 UTSW 15 77,897,522 (GRCm39) missense probably damaging 0.97
R9305:Cacng2 UTSW 15 77,897,542 (GRCm39) missense possibly damaging 0.95
R9689:Cacng2 UTSW 15 77,879,399 (GRCm39) missense possibly damaging 0.89
X0062:Cacng2 UTSW 15 77,879,386 (GRCm39) missense probably benign 0.29
Posted On 2016-08-02