Incidental Mutation 'R1560:Cacng2'
ID 170575
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 039599-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1560 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 77875948-78004228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77897518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 97 (F97S)
Ref Sequence ENSEMBL: ENSMUSP00000019290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019290]
AlphaFold O88602
Predicted Effect probably benign
Transcript: ENSMUST00000019290
AA Change: F97S

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000019290
Gene: ENSMUSG00000019146
AA Change: F97S

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,275,466 (GRCm39) T390A probably benign Het
Adamts8 T A 9: 30,867,963 (GRCm39) C596S probably damaging Het
Avl9 T A 6: 56,702,113 (GRCm39) Y89* probably null Het
Cacna1e G A 1: 154,296,850 (GRCm39) R18* probably null Het
Calu A G 6: 29,361,657 (GRCm39) D107G probably benign Het
Capns2 G A 8: 93,628,771 (GRCm39) R220Q probably damaging Het
Catsperb C T 12: 101,591,985 (GRCm39) T1105I probably benign Het
Cep350 T C 1: 155,804,825 (GRCm39) N753D possibly damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dnah5 G T 15: 28,420,149 (GRCm39) V3816F probably damaging Het
Dzip3 T C 16: 48,771,903 (GRCm39) probably null Het
Ep400 A T 5: 110,818,972 (GRCm39) probably null Het
Epb41l2 T A 10: 25,371,334 (GRCm39) probably null Het
Fetub T C 16: 22,758,117 (GRCm39) V300A probably benign Het
Gabrb3 A T 7: 57,466,043 (GRCm39) M308L probably damaging Het
Galnt16 A T 12: 80,648,566 (GRCm39) D546V possibly damaging Het
Gimap8 G T 6: 48,633,068 (GRCm39) G296W probably damaging Het
Gpr158 A G 2: 21,831,125 (GRCm39) K742E probably damaging Het
Hmbs T C 9: 44,248,657 (GRCm39) H72R possibly damaging Het
Krt16 A G 11: 100,137,475 (GRCm39) I410T probably damaging Het
Lamb3 G A 1: 193,021,710 (GRCm39) A971T probably benign Het
Lilra6 A C 7: 3,914,407 (GRCm39) probably null Het
Mroh7 A T 4: 106,568,451 (GRCm39) M418K possibly damaging Het
Myh11 T A 16: 14,044,484 (GRCm39) K640* probably null Het
Nsd1 T A 13: 55,394,533 (GRCm39) C711* probably null Het
Or1j17 T A 2: 36,578,155 (GRCm39) L47Q probably damaging Het
Or2ak5 A T 11: 58,611,513 (GRCm39) Y120* probably null Het
Or3a10 A G 11: 73,935,441 (GRCm39) S220P probably damaging Het
Or4c111 T C 2: 88,843,550 (GRCm39) Y286C probably damaging Het
Otop3 A T 11: 115,235,289 (GRCm39) H307L possibly damaging Het
Plekhm3 T C 1: 64,976,976 (GRCm39) T165A probably benign Het
Poldip3 G A 15: 83,022,527 (GRCm39) R86W probably damaging Het
Rif1 A T 2: 52,001,143 (GRCm39) R1532S probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Slc27a6 T A 18: 58,712,904 (GRCm39) L242* probably null Het
Spata45 T C 1: 190,772,017 (GRCm39) S80P probably benign Het
Taf4 A G 2: 179,577,746 (GRCm39) V525A probably benign Het
Tbck A G 3: 132,543,809 (GRCm39) T887A probably damaging Het
Tnrc6c C T 11: 117,650,463 (GRCm39) T1571I probably damaging Het
Trim38 A G 13: 23,966,685 (GRCm39) Y44C probably benign Het
Tsg101 A T 7: 46,542,208 (GRCm39) probably null Het
Tsku T A 7: 98,002,151 (GRCm39) D60V probably damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Upf1 G A 8: 70,791,092 (GRCm39) P550L probably damaging Het
Vipr2 A G 12: 116,058,401 (GRCm39) D106G probably benign Het
Vps13c T C 9: 67,843,745 (GRCm39) probably null Het
Washc4 T C 10: 83,391,973 (GRCm39) Y220H probably damaging Het
Wdr81 C T 11: 75,342,449 (GRCm39) W939* probably null Het
Zfp512b T C 2: 181,230,472 (GRCm39) T473A probably benign Het
Other mutations in Cacng2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03165:Cacng2 APN 15 77,879,863 (GRCm39) missense possibly damaging 0.94
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
Predicted Primers PCR Primer
(F):5'- GCTACCCAGCAGACAAGGACATTTC -3'
(R):5'- GTGATCCAGGGTAAACATGCCTGAG -3'

Sequencing Primer
(F):5'- aggaagggctgtgcctg -3'
(R):5'- CTGAGAAGATTGTGGCGTCC -3'
Posted On 2014-04-13