Incidental Mutation 'R9305:Cacng2'
ID 705188
Institutional Source Beutler Lab
Gene Symbol Cacng2
Ensembl Gene ENSMUSG00000019146
Gene Name calcium channel, voltage-dependent, gamma subunit 2
Synonyms TARP gamma 2, B930041E13Rik, B230105C07Rik, stargazin
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9305 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 77875948-78004228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 77897542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 89 (Y89S)
Ref Sequence ENSEMBL: ENSMUSP00000019290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019290]
AlphaFold O88602
Predicted Effect possibly damaging
Transcript: ENSMUST00000019290
AA Change: Y89S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000019290
Gene: ENSMUSG00000019146
AA Change: Y89S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,989 (GRCm39) I1227V probably benign Het
Abhd8 A G 8: 71,911,148 (GRCm39) V261A possibly damaging Het
Adam34 A T 8: 44,104,416 (GRCm39) C410S probably damaging Het
Adamts17 T C 7: 66,489,645 (GRCm39) L21P probably damaging Het
Adgre1 A G 17: 57,748,275 (GRCm39) N492D probably benign Het
Aldh1b1 G A 4: 45,803,811 (GRCm39) V450M probably damaging Het
Apob A G 12: 8,058,053 (GRCm39) I2178M probably benign Het
Atp9a A T 2: 168,517,163 (GRCm39) I390N probably benign Het
Bltp1 A G 3: 37,098,969 (GRCm39) I1277V Het
Capn10 T C 1: 92,871,665 (GRCm39) probably null Het
Casq2 A G 3: 102,052,700 (GRCm39) D404G unknown Het
Cdh9 T A 15: 16,832,138 (GRCm39) Y342N probably damaging Het
Cenpf T C 1: 189,392,271 (GRCm39) probably null Het
Cep295nl G A 11: 118,224,766 (GRCm39) P26L possibly damaging Het
Chmp4c T G 3: 10,454,974 (GRCm39) S214A probably benign Het
Clstn2 T A 9: 97,343,537 (GRCm39) I637F probably damaging Het
Csmd1 G T 8: 16,011,532 (GRCm39) T2507K probably benign Het
Ddx55 C T 5: 124,705,012 (GRCm39) S427F probably damaging Het
Dpysl5 T C 5: 30,948,959 (GRCm39) W405R probably damaging Het
Esyt1 A G 10: 128,355,388 (GRCm39) V451A possibly damaging Het
Fads2b A T 2: 85,330,649 (GRCm39) C219* probably null Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Foxa3 A G 7: 18,748,961 (GRCm39) L55P possibly damaging Het
Gng2 G T 14: 19,925,961 (GRCm39) H44N probably damaging Het
Hps5 G A 7: 46,438,619 (GRCm39) T38I possibly damaging Het
Igf2 G A 7: 142,208,153 (GRCm39) R64C probably damaging Het
Klb T A 5: 65,505,988 (GRCm39) Y78* probably null Het
Krt32 T C 11: 99,972,029 (GRCm39) T440A probably benign Het
Kynu T A 2: 43,569,768 (GRCm39) F350Y probably damaging Het
Lrp1b A T 2: 41,618,574 (GRCm39) S281T Het
Lrrc43 C T 5: 123,646,219 (GRCm39) A657V unknown Het
Mief2 C A 11: 60,622,042 (GRCm39) P204Q possibly damaging Het
Morc3 G T 16: 93,667,302 (GRCm39) R560L probably benign Het
Or2y3 A T 17: 38,393,629 (GRCm39) V80D probably damaging Het
Or8c20 A C 9: 38,260,381 (GRCm39) M1L probably benign Het
Orc3 G A 4: 34,607,181 (GRCm39) R50* probably null Het
Osbpl6 T A 2: 76,378,716 (GRCm39) D124E probably damaging Het
Parp4 TG T 14: 56,832,790 (GRCm39) probably null Het
Parp4 T C 14: 56,852,224 (GRCm39) probably null Het
Pcdhb18 A C 18: 37,625,004 (GRCm39) H778P probably benign Het
Polg A T 7: 79,105,860 (GRCm39) Y710N probably benign Het
Ppp2r2b C A 18: 42,779,025 (GRCm39) R370L possibly damaging Het
Prune2 A G 19: 17,097,625 (GRCm39) D1043G probably benign Het
Rpl6 T C 5: 121,346,516 (GRCm39) S206P possibly damaging Het
Serpina3i T C 12: 104,234,881 (GRCm39) V404A probably damaging Het
Serpinb8 T C 1: 107,526,769 (GRCm39) probably null Het
Stx11 A T 10: 12,817,564 (GRCm39) D53E probably benign Het
Thoc3 C T 13: 54,607,998 (GRCm39) W315* probably null Het
Tmem26 G A 10: 68,559,816 (GRCm39) W29* probably null Het
Togaram2 A G 17: 71,996,408 (GRCm39) E137G probably damaging Het
Ttc39b A G 4: 83,151,023 (GRCm39) L524S probably damaging Het
Usp43 T C 11: 67,767,345 (GRCm39) N675S probably damaging Het
Vmn2r104 A G 17: 20,268,439 (GRCm39) L10P possibly damaging Het
Zbtb1 G A 12: 76,432,773 (GRCm39) R253Q probably damaging Het
Zfc3h1 A G 10: 115,255,771 (GRCm39) D1474G probably benign Het
Zfp873 T C 10: 81,896,514 (GRCm39) F415S probably benign Het
Other mutations in Cacng2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03165:Cacng2 APN 15 77,879,863 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- AATGTCCCTCATCTCCGGAAC -3'
(R):5'- TGCTGTGATCCAGGGTAAAC -3'

Sequencing Primer
(F):5'- AACTGGGGGAATGCTACCC -3'
(R):5'- CTGTGATCCAGGGTAAACATGCC -3'
Posted On 2022-03-25