Incidental Mutation 'IGL02516:Cbarp'
ID296789
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbarp
Ensembl Gene ENSMUSG00000035640
Gene Namecalcium channel, voltage-dependent, beta subunit associated regulatory protein
SynonymsR29144/1, Dos
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02516
Quality Score
Status
Chromosome10
Chromosomal Location80130451-80140835 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80135545 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 149 (Y149H)
Ref Sequence ENSEMBL: ENSMUSP00000131487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003152] [ENSMUST00000105369] [ENSMUST00000105370] [ENSMUST00000123967] [ENSMUST00000132523] [ENSMUST00000142853] [ENSMUST00000147778] [ENSMUST00000169546] [ENSMUST00000170219]
Predicted Effect probably benign
Transcript: ENSMUST00000003152
SMART Domains Protein: ENSMUSP00000003152
Gene: ENSMUSG00000003068

DomainStartEndE-ValueType
S_TKc 49 309 1.28e-80 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105369
AA Change: Y149H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101008
Gene: ENSMUSG00000035640
AA Change: Y149H

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
transmembrane domain 41 63 N/A INTRINSIC
low complexity region 185 197 N/A INTRINSIC
low complexity region 269 277 N/A INTRINSIC
low complexity region 380 388 N/A INTRINSIC
low complexity region 402 420 N/A INTRINSIC
low complexity region 444 484 N/A INTRINSIC
low complexity region 515 534 N/A INTRINSIC
low complexity region 559 573 N/A INTRINSIC
low complexity region 627 651 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105370
SMART Domains Protein: ENSMUSP00000101009
Gene: ENSMUSG00000003068

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 180 2.8e-22 PFAM
Pfam:Pkinase 1 183 2.8e-40 PFAM
Pfam:Kinase-like 8 171 5.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123967
SMART Domains Protein: ENSMUSP00000125962
Gene: ENSMUSG00000035640

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
low complexity region 68 87 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132317
Predicted Effect probably benign
Transcript: ENSMUST00000132523
SMART Domains Protein: ENSMUSP00000128980
Gene: ENSMUSG00000035640

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
transmembrane domain 43 65 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138776
Predicted Effect probably benign
Transcript: ENSMUST00000142853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146180
Predicted Effect probably benign
Transcript: ENSMUST00000147778
SMART Domains Protein: ENSMUSP00000130389
Gene: ENSMUSG00000035640

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
transmembrane domain 43 65 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150347
Predicted Effect probably damaging
Transcript: ENSMUST00000169546
AA Change: Y156H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132978
Gene: ENSMUSG00000035640
AA Change: Y156H

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
transmembrane domain 35 57 N/A INTRINSIC
low complexity region 192 204 N/A INTRINSIC
low complexity region 276 284 N/A INTRINSIC
low complexity region 387 395 N/A INTRINSIC
low complexity region 409 427 N/A INTRINSIC
low complexity region 451 491 N/A INTRINSIC
low complexity region 522 541 N/A INTRINSIC
low complexity region 566 580 N/A INTRINSIC
low complexity region 634 658 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170219
AA Change: Y149H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131487
Gene: ENSMUSG00000035640
AA Change: Y149H

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
transmembrane domain 41 63 N/A INTRINSIC
low complexity region 185 197 N/A INTRINSIC
low complexity region 269 277 N/A INTRINSIC
low complexity region 380 388 N/A INTRINSIC
low complexity region 402 420 N/A INTRINSIC
low complexity region 444 484 N/A INTRINSIC
low complexity region 515 534 N/A INTRINSIC
low complexity region 559 573 N/A INTRINSIC
low complexity region 627 651 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 C T 8: 24,898,596 S364N probably damaging Het
AI314180 T C 4: 58,877,102 E111G probably damaging Het
Ano8 C T 8: 71,485,077 G47D probably damaging Het
App T C 16: 84,955,417 T743A probably damaging Het
Armc3 A G 2: 19,300,506 K692E possibly damaging Het
Arpp21 T C 9: 112,185,661 N25S probably damaging Het
Avpr1b G A 1: 131,600,629 V297I probably damaging Het
Bpi A G 2: 158,267,731 I200V possibly damaging Het
Cacna2d4 C T 6: 119,271,870 probably benign Het
Ccdc85c T C 12: 108,274,901 N78S unknown Het
Cdcp1 G T 9: 123,173,637 L790M possibly damaging Het
Cdkn2d T A 9: 21,289,143 I111F probably benign Het
Ctsr A G 13: 61,163,178 V18A probably benign Het
Dapk1 A G 13: 60,696,347 D60G probably damaging Het
Daw1 A C 1: 83,209,228 N253T probably benign Het
Dcaf7 T A 11: 106,051,872 I215N probably damaging Het
Ddc A C 11: 11,829,125 L333R probably damaging Het
Dennd1a A G 2: 37,852,394 probably null Het
Dnah10 C A 5: 124,787,331 T2200K probably damaging Het
Dock6 T C 9: 21,802,585 Y1883C probably damaging Het
Eif2ak4 T A 2: 118,436,254 I752N probably damaging Het
Fcho2 A G 13: 98,730,212 I740T probably benign Het
Flnc A G 6: 29,450,841 D1496G probably damaging Het
Fn1 A G 1: 71,637,323 V583A possibly damaging Het
Grasp G A 15: 101,229,051 V137I probably damaging Het
Greb1l A C 18: 10,537,064 T1010P probably benign Het
Hs3st6 T C 17: 24,758,131 L195P probably damaging Het
Hyi A G 4: 118,362,483 E239G probably damaging Het
Ighv2-3 G T 12: 113,611,198 Y112* probably null Het
Ints3 A G 3: 90,403,108 F495S probably damaging Het
Itih2 T A 2: 10,097,917 H802L probably benign Het
Jag2 C T 12: 112,910,566 V990M probably damaging Het
Kat6b T C 14: 21,609,868 probably benign Het
Krtap4-8 C T 11: 99,780,342 probably benign Het
Lhx4 A G 1: 155,702,257 S380P probably damaging Het
Morn3 C A 5: 123,037,300 E33* probably null Het
Mug2 C T 6: 122,070,843 A771V probably damaging Het
N4bp3 A T 11: 51,644,334 S343T probably benign Het
Nlrp1a T C 11: 71,114,460 N643S probably damaging Het
Olfr15 A C 16: 3,839,336 D121A probably damaging Het
Olfr767 T A 10: 129,079,793 M57L possibly damaging Het
Olfr93 T A 17: 37,151,272 R79S possibly damaging Het
Phc3 A G 3: 30,948,793 F192S probably damaging Het
Pigq C T 17: 25,937,247 R69H probably benign Het
Plk3 A G 4: 117,131,989 C222R probably damaging Het
Pomt2 T C 12: 87,119,646 T490A probably benign Het
Prss29 T C 17: 25,320,901 I91T probably damaging Het
Ralgapb A T 2: 158,465,815 probably benign Het
Sccpdh G A 1: 179,681,691 G75D probably damaging Het
Serpine2 T C 1: 79,794,997 probably benign Het
Sfr1 T G 19: 47,732,990 probably null Het
Slc22a23 C A 13: 34,203,955 C386F probably benign Het
Slc22a27 T C 19: 7,864,811 K433R probably damaging Het
Slc39a12 T C 2: 14,400,335 L246P probably damaging Het
Slc4a11 A G 2: 130,691,393 I191T possibly damaging Het
Slc9c1 A G 16: 45,577,875 N668D probably damaging Het
Supt16 A T 14: 52,183,964 D41E possibly damaging Het
Ugt2b37 A G 5: 87,240,882 S491P probably damaging Het
Urb1 G T 16: 90,772,695 T1381N possibly damaging Het
Usp8 A G 2: 126,742,174 I423M probably benign Het
Vmn1r191 T A 13: 22,179,540 I15F probably benign Het
Zbtb5 A T 4: 44,993,798 Y529N probably damaging Het
Zfp541 T A 7: 16,082,993 probably null Het
Other mutations in Cbarp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1181:Cbarp UTSW 10 80135494 missense probably damaging 1.00
R1189:Cbarp UTSW 10 80131796 missense possibly damaging 0.77
R2937:Cbarp UTSW 10 80131769 missense probably damaging 0.99
R2938:Cbarp UTSW 10 80131769 missense probably damaging 0.99
R3931:Cbarp UTSW 10 80135514 missense probably damaging 1.00
R4199:Cbarp UTSW 10 80135492 missense probably damaging 1.00
R4573:Cbarp UTSW 10 80131411 missense probably damaging 0.99
R5274:Cbarp UTSW 10 80131815 missense possibly damaging 0.57
R5761:Cbarp UTSW 10 80132233 unclassified probably benign
R6112:Cbarp UTSW 10 80135371 splice site probably null
R6402:Cbarp UTSW 10 80135122 missense probably benign
R7087:Cbarp UTSW 10 80136408 missense probably damaging 1.00
R7270:Cbarp UTSW 10 80137317 missense possibly damaging 0.63
R7287:Cbarp UTSW 10 80137320 missense unknown
R7427:Cbarp UTSW 10 80131304 missense probably damaging 0.99
R7428:Cbarp UTSW 10 80131304 missense probably damaging 0.99
X0025:Cbarp UTSW 10 80131577 missense probably damaging 0.96
Z1177:Cbarp UTSW 10 80131872 missense probably damaging 0.99
Z1177:Cbarp UTSW 10 80133060 missense probably damaging 1.00
Posted On2015-04-16