Incidental Mutation 'R2047:Cacng2'
ID 222157
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 040054-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2047 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 77875948-78004228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78003037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 19 (A19T)
Ref Sequence ENSEMBL: ENSMUSP00000019290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019290]
AlphaFold O88602
Predicted Effect probably damaging
Transcript: ENSMUST00000019290
AA Change: A19T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019290
Gene: ENSMUSG00000019146
AA Change: A19T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174277
Meta Mutation Damage Score 0.1965 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (57/57)
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
4933402N03Rik A G 7: 130,747,836 (GRCm39) F52S probably damaging Het
Acot12 T C 13: 91,931,122 (GRCm39) S457P probably damaging Het
Adcy5 G A 16: 35,110,478 (GRCm39) V882M possibly damaging Het
Ahnak A G 19: 8,991,664 (GRCm39) D4316G possibly damaging Het
Aldh1l2 G A 10: 83,342,607 (GRCm39) A401V probably damaging Het
Apol7e A G 15: 77,601,810 (GRCm39) H136R probably benign Het
Arl5a A G 2: 52,302,072 (GRCm39) probably null Het
Asns G T 6: 7,680,093 (GRCm39) A341E probably damaging Het
C7 A G 15: 5,075,143 (GRCm39) L183P probably damaging Het
Ccdc121rt2 A G 5: 112,598,575 (GRCm39) N374S probably benign Het
Ccr4 A G 9: 114,321,633 (GRCm39) F144S probably damaging Het
Ckap2 A G 8: 22,658,763 (GRCm39) V660A probably benign Het
Cramp1 A T 17: 25,222,189 (GRCm39) Y176* probably null Het
Dgki A G 6: 36,890,581 (GRCm39) S922P possibly damaging Het
Drd5 C T 5: 38,477,679 (GRCm39) S224L probably damaging Het
Ei24 T C 9: 36,691,459 (GRCm39) K341E probably benign Het
Eno2 A T 6: 124,744,659 (GRCm39) probably benign Het
Epb41l4a T C 18: 33,961,259 (GRCm39) N425S probably benign Het
F13b T G 1: 139,435,961 (GRCm39) C256G probably damaging Het
Gp6 A T 7: 4,376,270 (GRCm39) probably benign Het
H2-Q7 A T 17: 35,659,123 (GRCm39) R191S probably damaging Het
Ivns1abp T A 1: 151,227,382 (GRCm39) S63R possibly damaging Het
Kcnj16 A G 11: 110,915,946 (GRCm39) probably null Het
Lpcat4 T C 2: 112,075,142 (GRCm39) probably null Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Maml3 C A 3: 51,597,866 (GRCm39) R939S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Mrpl46 T A 7: 78,431,312 (GRCm39) Y82F probably damaging Het
Mthfs T A 9: 89,097,356 (GRCm39) I71N probably damaging Het
Nectin4 T C 1: 171,212,720 (GRCm39) V351A possibly damaging Het
Npas3 T C 12: 54,115,612 (GRCm39) F827L probably damaging Het
Nrp1 G A 8: 129,224,577 (GRCm39) probably benign Het
Ocln C A 13: 100,671,632 (GRCm39) A242S probably damaging Het
Or10ad1c T A 15: 98,084,920 (GRCm39) T253S probably damaging Het
Or13g1 G A 7: 85,956,012 (GRCm39) T103I probably damaging Het
Or5d37 A T 2: 87,924,237 (GRCm39) N14K probably benign Het
Pappa T C 4: 65,149,378 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,698,752 (GRCm39) T480A probably benign Het
Pycr1 A T 11: 120,532,512 (GRCm39) D168E possibly damaging Het
Rnf6 T C 5: 146,148,674 (GRCm39) T126A probably damaging Het
Slc25a39 G A 11: 102,296,657 (GRCm39) probably benign Het
Slc35f4 G T 14: 49,541,029 (GRCm39) probably benign Het
Sppl2a C T 2: 126,768,772 (GRCm39) A112T probably damaging Het
Sptbn1 A C 11: 30,088,360 (GRCm39) probably benign Het
Sqle T C 15: 59,197,907 (GRCm39) Y376H probably benign Het
Terb1 A T 8: 105,212,094 (GRCm39) Y296N probably damaging Het
Ttbk2 T C 2: 120,579,397 (GRCm39) H506R probably damaging Het
Ttn T C 2: 76,737,879 (GRCm39) D4220G probably benign Het
Tub A G 7: 108,625,939 (GRCm39) D230G probably benign Het
Ube2d3 T A 3: 135,170,967 (GRCm39) I137K probably benign Het
Vldlr G T 19: 27,212,238 (GRCm39) C84F probably damaging Het
Vmn1r54 A T 6: 90,246,970 (GRCm39) I295F probably damaging Het
Vmn2r56 A G 7: 12,466,918 (GRCm39) S39P probably damaging Het
Zfp358 A G 8: 3,545,934 (GRCm39) H172R probably damaging Het
Zfp619 T C 7: 39,187,062 (GRCm39) C1031R probably damaging Het
Zfp777 A G 6: 48,021,280 (GRCm39) I114T 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
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
Predicted Primers PCR Primer
(F):5'- GGAAATCAAATACCTTCGAGGC -3'
(R):5'- TTTGATCTCAAAAGGCAAGCC -3'

Sequencing Primer
(F):5'- GAGGCAGCAGGTTCTCCATAATC -3'
(R):5'- AATTTACACACTTTTCCGTGAGC -3'
Posted On 2014-08-25