Incidental Mutation 'IGL03335:Carmil2'
ID416993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Carmil2
Ensembl Gene ENSMUSG00000050357
Gene Namecapping protein regulator and myosin 1 linker 2
SynonymsD130029J02Rik, Rltpr
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #IGL03335
Quality Score
Status
Chromosome8
Chromosomal Location105686274-105698187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105697029 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 1212 (I1212V)
Ref Sequence ENSEMBL: ENSMUSP00000148422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042608] [ENSMUST00000062574] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000211888] [ENSMUST00000212352] [ENSMUST00000212430] [ENSMUST00000212642] [ENSMUST00000212650] [ENSMUST00000213019]
Predicted Effect probably benign
Transcript: ENSMUST00000042608
SMART Domains Protein: ENSMUSP00000048180
Gene: ENSMUSG00000038000

DomainStartEndE-ValueType
Pfam:TPP1 11 118 2.4e-23 PFAM
low complexity region 259 272 N/A INTRINSIC
low complexity region 296 319 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000062574
SMART Domains Protein: ENSMUSP00000052322
Gene: ENSMUSG00000050357

DomainStartEndE-ValueType
Pfam:CARMIL_C 149 442 3.3e-62 PFAM
low complexity region 467 484 N/A INTRINSIC
low complexity region 631 659 N/A INTRINSIC
low complexity region 696 727 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093195
SMART Domains Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699

DomainStartEndE-ValueType
PB1 15 95 2.81e-15 SMART
PDZ 167 250 1.38e-12 SMART
low complexity region 263 286 N/A INTRINSIC
low complexity region 309 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098444
SMART Domains Protein: ENSMUSP00000096043
Gene: ENSMUSG00000005699

DomainStartEndE-ValueType
PB1 4 79 1.28e-9 SMART
PDZ 151 234 1.38e-12 SMART
low complexity region 247 270 N/A INTRINSIC
low complexity region 293 307 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211870
Predicted Effect probably benign
Transcript: ENSMUST00000211888
Predicted Effect probably benign
Transcript: ENSMUST00000212352
Predicted Effect probably benign
Transcript: ENSMUST00000212430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212634
Predicted Effect probably benign
Transcript: ENSMUST00000212642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212643
Predicted Effect probably benign
Transcript: ENSMUST00000212650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212687
Predicted Effect probably benign
Transcript: ENSMUST00000213019
AA Change: I1212V

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212972
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out or ENU-induced allele exhibit decreased regulatory T cells and reduced proliferative and IL2-secretion response to anti-CD3 and anti-CD28 antibodies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,935,258 V713A probably benign Het
Actr8 T C 14: 29,978,557 V31A probably benign Het
Alcam A C 16: 52,291,003 Y244* probably null Het
Ankrd24 A G 10: 81,647,133 S972G probably benign Het
Aox1 T A 1: 58,076,160 V768E probably damaging Het
Btbd11 A T 10: 85,658,358 probably benign Het
C130060K24Rik T C 6: 65,453,117 probably null Het
Catsper1 C T 19: 5,336,311 R191C probably damaging Het
Cenpe T A 3: 135,243,625 V57D probably benign Het
Cpsf3 T C 12: 21,306,887 probably null Het
Cubn A G 2: 13,360,329 S1633P probably damaging Het
Dsg1c G A 18: 20,283,697 R885Q probably benign Het
Egfl6 C A X: 166,538,693 G272W probably damaging Het
Ermard T C 17: 15,059,406 L486P probably damaging Het
F13b A T 1: 139,522,386 L595F probably damaging Het
Foxm1 A G 6: 128,372,568 N350S possibly damaging Het
Fras1 T C 5: 96,733,944 probably benign Het
Gpr152 C A 19: 4,143,771 T437N possibly damaging Het
Icmt T A 4: 152,300,697 Y205* probably null Het
Ints8 A T 4: 11,216,460 F844I probably damaging Het
Mep1a T A 17: 43,477,173 D664V possibly damaging Het
Muc4 T A 16: 32,753,021 N966K probably benign Het
Myo7b T A 18: 31,985,020 Q851L possibly damaging Het
Pdzd2 T C 15: 12,373,764 H2095R probably benign Het
Phldb1 A G 9: 44,728,069 L4P possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pnpla8 T A 12: 44,283,164 N166K probably benign Het
Rapgef2 A G 3: 79,099,185 M137T probably damaging Het
Rbm15b G A 9: 106,884,339 H877Y probably damaging Het
Rbm45 T C 2: 76,376,433 L263P probably damaging Het
Rprd1b T C 2: 158,074,964 V288A probably damaging Het
Tmtc3 C A 10: 100,466,254 V278L probably damaging Het
Tomm70a A G 16: 57,149,926 T556A probably damaging Het
Trpc7 T C 13: 56,887,691 E143G probably damaging Het
Trpm3 G T 19: 22,926,071 probably null Het
Ugt2b34 T C 5: 86,906,640 E94G probably benign Het
Vmn1r174 T C 7: 23,754,512 V201A probably benign Het
Zfp352 T C 4: 90,224,346 F241S probably damaging Het
Other mutations in Carmil2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Carmil2 APN 8 105691406 missense probably benign 0.39
IGL01295:Carmil2 APN 8 105695516 missense probably benign 0.44
IGL02055:Carmil2 APN 8 105696907 splice site probably benign
IGL02532:Carmil2 APN 8 105692431 critical splice donor site probably null
IGL02900:Carmil2 APN 8 105695519 missense probably damaging 1.00
IGL03242:Carmil2 APN 8 105691320 splice site probably benign
R0544:Carmil2 UTSW 8 105691235 missense probably damaging 1.00
R2160:Carmil2 UTSW 8 105697048 missense possibly damaging 0.94
R2512:Carmil2 UTSW 8 105697393 missense probably benign 0.31
R2877:Carmil2 UTSW 8 105695423 missense probably damaging 1.00
R2943:Carmil2 UTSW 8 105692932 missense probably benign 0.17
R4038:Carmil2 UTSW 8 105695407 missense probably damaging 0.99
R4615:Carmil2 UTSW 8 105695074 missense possibly damaging 0.94
R4914:Carmil2 UTSW 8 105693543 missense possibly damaging 0.85
R5106:Carmil2 UTSW 8 105694006 splice site probably null
R5125:Carmil2 UTSW 8 105696889 missense probably damaging 1.00
R5178:Carmil2 UTSW 8 105696889 missense probably damaging 1.00
R5735:Carmil2 UTSW 8 105698031 missense probably damaging 1.00
R5991:Carmil2 UTSW 8 105691391 missense probably null 1.00
R6035:Carmil2 UTSW 8 105692563 missense probably benign 0.27
R6035:Carmil2 UTSW 8 105692563 missense probably benign 0.27
R6226:Carmil2 UTSW 8 105689032 missense possibly damaging 0.88
R6411:Carmil2 UTSW 8 105697026 missense probably damaging 1.00
R7263:Carmil2 UTSW 8 105693045 missense probably damaging 1.00
R7368:Carmil2 UTSW 8 105690835 missense possibly damaging 0.46
R7409:Carmil2 UTSW 8 105692791 splice site probably null
R7597:Carmil2 UTSW 8 105695489 missense probably damaging 1.00
R7674:Carmil2 UTSW 8 105697286 missense possibly damaging 0.93
R7759:Carmil2 UTSW 8 105697036 missense possibly damaging 0.94
R7864:Carmil2 UTSW 8 105688274 missense probably damaging 1.00
R7921:Carmil2 UTSW 8 105691104 missense probably damaging 1.00
R8057:Carmil2 UTSW 8 105692376 missense probably benign 0.04
R8079:Carmil2 UTSW 8 105686761 missense probably damaging 1.00
R8343:Carmil2 UTSW 8 105691084 missense probably benign 0.05
R8353:Carmil2 UTSW 8 105690211 missense probably damaging 1.00
R8366:Carmil2 UTSW 8 105693075 missense probably benign 0.02
R8453:Carmil2 UTSW 8 105690211 missense probably damaging 1.00
R8526:Carmil2 UTSW 8 105688815 missense probably damaging 1.00
R8810:Carmil2 UTSW 8 105686315 critical splice donor site probably null
Posted On2016-08-02