Incidental Mutation 'R6057:Cacng2'
ID 483006
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6057 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 77875948-78004228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78002991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 34 (L34Q)
Ref Sequence ENSEMBL: ENSMUSP00000019290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019290]
AlphaFold O88602
Predicted Effect probably damaging
Transcript: ENSMUST00000019290
AA Change: L34Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019290
Gene: ENSMUSG00000019146
AA Change: L34Q

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A G 6: 52,156,500 (GRCm39) probably benign Het
Acan A G 7: 78,749,530 (GRCm39) S11G probably null Het
Ankrd13d A C 19: 4,332,256 (GRCm39) V56G probably damaging Het
Arl15 A G 13: 114,104,151 (GRCm39) Y76C probably damaging Het
Aspg G A 12: 112,087,432 (GRCm39) C296Y probably damaging Het
Astl T A 2: 127,187,889 (GRCm39) D101E probably benign Het
Bmpr2 A G 1: 59,881,977 (GRCm39) N202S probably benign Het
Borcs7 T C 19: 46,690,003 (GRCm39) *106Q probably null Het
Brip1 A G 11: 85,955,865 (GRCm39) S883P possibly damaging Het
Catip A C 1: 74,402,077 (GRCm39) D84A probably damaging Het
Ccdc162 A G 10: 41,510,037 (GRCm39) L856S possibly damaging Het
Ccdc38 A G 10: 93,417,608 (GRCm39) K500E probably damaging Het
Ccser2 T C 14: 36,663,122 (GRCm39) K21E probably damaging Het
Cd93 A T 2: 148,283,439 (GRCm39) Y636N probably damaging Het
Cep128 A T 12: 91,262,998 (GRCm39) N300K possibly damaging Het
Cfap44 A G 16: 44,269,460 (GRCm39) T1155A probably benign Het
Clec16a T C 16: 10,447,951 (GRCm39) L550P probably damaging Het
Csmd3 T C 15: 47,618,787 (GRCm39) Y1867C probably damaging Het
Cul3 A T 1: 80,249,249 (GRCm39) I674N probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2d34 T C 15: 82,500,552 (GRCm39) H429R probably benign Het
Dab2ip T A 2: 35,582,267 (GRCm39) C4* probably null Het
Dcaf1 A G 9: 106,731,446 (GRCm39) E641G probably damaging Het
Dda1 T A 8: 71,927,276 (GRCm39) probably benign Het
Dmgdh C T 13: 93,888,960 (GRCm39) T866I probably benign Het
Ect2l T C 10: 18,037,250 (GRCm39) T383A probably benign Het
Ets2 A G 16: 95,515,416 (GRCm39) N181D probably benign Het
Ezh2 A G 6: 47,529,357 (GRCm39) F222L probably damaging Het
Frem3 T C 8: 81,342,216 (GRCm39) L1503P probably damaging Het
Fsip2 C A 2: 82,809,777 (GRCm39) A2032E probably damaging Het
Gm1818 C T 12: 48,602,346 (GRCm39) noncoding transcript Het
Gm9493 A G 19: 23,597,106 (GRCm39) S1G probably damaging Het
Grin2b A G 6: 135,710,942 (GRCm39) I868T possibly damaging Het
Ift22 A T 5: 136,939,987 (GRCm39) T17S possibly damaging Het
Il4ra T C 7: 125,170,735 (GRCm39) W216R probably damaging Het
Kcnj6 A T 16: 94,633,236 (GRCm39) W274R probably damaging Het
Kctd19 G A 8: 106,123,082 (GRCm39) H111Y probably damaging Het
Kremen2 A G 17: 23,961,679 (GRCm39) V276A probably benign Het
Lig1 C A 7: 13,022,598 (GRCm39) Q143K probably damaging Het
Lrp1 A T 10: 127,403,359 (GRCm39) D2071E probably damaging Het
Macf1 C T 4: 123,404,536 (GRCm39) M475I probably damaging Het
Mbtd1 G A 11: 93,820,485 (GRCm39) A427T probably damaging Het
Myof A G 19: 37,915,429 (GRCm39) probably null Het
Nbeal2 T C 9: 110,470,945 (GRCm39) D308G possibly damaging Het
Ncdn T C 4: 126,638,824 (GRCm39) Q665R probably benign Het
Nkd1 T C 8: 89,316,442 (GRCm39) probably null Het
Nktr G A 9: 121,577,455 (GRCm39) probably benign Het
Npc1l1 A T 11: 6,167,806 (GRCm39) M995K possibly damaging Het
Or10ag59 C A 2: 87,406,363 (GRCm39) R312S probably benign Het
Or11g7 A T 14: 50,691,201 (GRCm39) R231* probably null Het
Or14n1-ps1 T A 7: 86,092,397 (GRCm39) C69* probably null Het
Padi4 T C 4: 140,487,351 (GRCm39) T184A probably damaging Het
Pgm2l1 C T 7: 99,915,881 (GRCm39) P409S probably benign Het
Pgpep1 G A 8: 71,105,101 (GRCm39) T53M probably damaging Het
Pgr T C 9: 8,902,006 (GRCm39) L513P probably damaging Het
Pikfyve T A 1: 65,311,730 (GRCm39) I1989N probably damaging Het
Prrc2a T C 17: 35,371,716 (GRCm39) T1806A probably benign Het
Psd T C 19: 46,311,753 (GRCm39) E309G possibly damaging Het
Qtrt1 C T 9: 21,323,299 (GRCm39) T50I probably damaging Het
Rims2 A C 15: 39,538,416 (GRCm39) T1320P probably damaging Het
Scn11a T G 9: 119,594,514 (GRCm39) N1293T probably damaging Het
Scn8a T C 15: 100,872,548 (GRCm39) F529S possibly damaging Het
Sec14l4 A T 11: 3,985,142 (GRCm39) D25V possibly damaging Het
Sema3a C T 5: 13,615,832 (GRCm39) R419C probably damaging Het
Slc12a1 T C 2: 125,032,133 (GRCm39) Y595H probably damaging Het
Slc25a28 A T 19: 43,655,364 (GRCm39) H170Q possibly damaging Het
Slc26a1 T A 5: 108,821,631 (GRCm39) Q86L probably damaging Het
Slc48a1 T A 15: 97,687,798 (GRCm39) W51R probably damaging Het
Sptlc3 T A 2: 139,423,533 (GRCm39) V309D probably damaging Het
Srcap G A 7: 127,140,528 (GRCm39) S1375N probably damaging Het
Tanc1 C A 2: 59,647,837 (GRCm39) H986Q possibly damaging Het
Tbc1d4 A G 14: 101,727,353 (GRCm39) V486A probably damaging Het
Tceanc2 T C 4: 107,004,776 (GRCm39) D124G probably damaging Het
Tdrd9 A G 12: 111,979,720 (GRCm39) M402V possibly damaging Het
Tmem132d T C 5: 127,861,934 (GRCm39) D729G probably damaging Het
Tmem62 T A 2: 120,807,943 (GRCm39) I55N probably damaging Het
Tnfrsf21 A T 17: 43,350,606 (GRCm39) N257Y possibly damaging Het
Trappc3 T C 4: 126,167,834 (GRCm39) L131P probably damaging Het
Vmn2r25 A T 6: 123,799,900 (GRCm39) M814K possibly damaging Het
Vmn2r87 T C 10: 130,308,226 (GRCm39) I671V probably benign Het
Vwa8 A T 14: 79,320,313 (GRCm39) D1108V probably benign Het
Xrcc4 C G 13: 90,139,198 (GRCm39) A241P possibly damaging Het
Xylt1 T A 7: 117,191,135 (GRCm39) D310E probably benign Het
Zfp27 T G 7: 29,594,444 (GRCm39) H507P possibly damaging Het
Zfp341 C T 2: 154,466,954 (GRCm39) P108S probably benign Het
Zfp641 T C 15: 98,190,816 (GRCm39) N76S probably benign Het
Zfp936 T C 7: 42,839,787 (GRCm39) V418A 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
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'- AGTCAACCTTGATCTGCAGC -3'
(R):5'- TGGAATTACCAATCGCACCC -3'

Posted On 2017-07-14