Incidental Mutation 'R5125:Carmil2'
ID 393502
Institutional Source Beutler Lab
Gene Symbol Carmil2
Ensembl Gene ENSMUSG00000050357
Gene Name capping protein regulator and myosin 1 linker 2
Synonyms Rltpr, D130029J02Rik
MMRRC Submission 042713-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5125 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106412906-106424819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106423521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 1207 (G1207V)
Ref Sequence ENSEMBL: ENSMUSP00000148422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042608] [ENSMUST00000062574] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000211888] [ENSMUST00000213019] [ENSMUST00000212352] [ENSMUST00000212642] [ENSMUST00000212650] [ENSMUST00000212430]
AlphaFold no structure available at present
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 damaging
Transcript: ENSMUST00000213019
AA Change: G1207V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212643
Predicted Effect probably benign
Transcript: ENSMUST00000212642
Predicted Effect probably benign
Transcript: ENSMUST00000212650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212634
Predicted Effect probably benign
Transcript: ENSMUST00000212430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212972
Meta Mutation Damage Score 0.2552 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 96% (49/51)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 G T 13: 23,606,819 (GRCm39) A94E possibly damaging Het
Cyp2c66 A G 19: 39,159,473 (GRCm39) Y308C probably damaging Het
Dcc A G 18: 71,589,948 (GRCm39) F683L probably benign Het
Denr A T 5: 124,065,144 (GRCm39) I166F probably damaging Het
Dhx29 T G 13: 113,069,134 (GRCm39) S155A possibly damaging Het
Dsg1b G A 18: 20,530,560 (GRCm39) G405E probably damaging Het
Ei24 T A 9: 36,693,742 (GRCm39) probably benign Het
Exo5 A T 4: 120,778,734 (GRCm39) probably null Het
Gm7356 T C 17: 14,221,576 (GRCm39) D151G probably damaging Het
Grin1 T C 2: 25,186,839 (GRCm39) probably benign Het
Grin2b C T 6: 135,900,297 (GRCm39) V195M possibly damaging Het
Hephl1 T A 9: 14,997,468 (GRCm39) K399N probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kmt2c A G 5: 25,489,379 (GRCm39) V4520A probably damaging Het
Lair1 G A 7: 4,013,488 (GRCm39) T82I possibly damaging Het
Lmx1a C T 1: 167,658,256 (GRCm39) S213L possibly damaging Het
Ly6g6d A G 17: 35,293,418 (GRCm39) I8T possibly damaging Het
Mcm4 T A 16: 15,453,167 (GRCm39) D174V probably benign Het
Mcph1 T A 8: 18,657,342 (GRCm39) D60E probably damaging Het
Med12l G A 3: 59,174,635 (GRCm39) G1851D possibly damaging Het
Or13c7b T A 4: 43,820,480 (GRCm39) I294F probably benign Het
Or7e174 T A 9: 20,012,488 (GRCm39) C144* probably null Het
P2rx2 G A 5: 110,490,517 (GRCm39) T66I possibly damaging Het
Pcdh15 A G 10: 74,419,912 (GRCm39) E1197G probably damaging Het
Pira1 T A 7: 3,742,396 (GRCm39) K44* probably null Het
Ppwd1 A T 13: 104,356,943 (GRCm39) S191T probably benign Het
Rbm39 A T 2: 156,004,785 (GRCm39) M184K probably damaging Het
Reln A G 5: 22,118,239 (GRCm39) V2935A possibly damaging Het
Robo4 T C 9: 37,319,256 (GRCm39) W535R probably damaging Het
Rsf1 A G 7: 97,311,079 (GRCm39) D603G possibly damaging Het
Sh3rf3 C G 10: 58,967,012 (GRCm39) P785A probably benign Het
Slc22a26 T C 19: 7,767,540 (GRCm39) T289A possibly damaging Het
Slc24a3 T C 2: 145,360,767 (GRCm39) V120A possibly damaging Het
Sost C T 11: 101,854,767 (GRCm39) G181R probably damaging Het
Sp2 A G 11: 96,846,664 (GRCm39) F554L probably benign Het
Stim2 T C 5: 54,267,939 (GRCm39) S87P probably damaging Het
Tecta T C 9: 42,286,481 (GRCm39) D725G probably damaging Het
Trgc4 A G 13: 19,528,932 (GRCm39) probably benign Het
Ube4b T C 4: 149,427,449 (GRCm39) M900V probably damaging Het
Ugt2b38 A G 5: 87,559,671 (GRCm39) M407T probably damaging Het
Vmn1r87 G T 7: 12,865,792 (GRCm39) A165E possibly damaging Het
Zc3h6 A G 2: 128,856,399 (GRCm39) H493R possibly damaging Het
Zfhx2 A T 14: 55,312,232 (GRCm39) F154Y probably benign Het
Zfp729a A G 13: 67,785,764 (GRCm39) probably null Het
Zfp976 A G 7: 42,261,925 (GRCm39) probably null Het
Zhx1 C G 15: 57,917,470 (GRCm39) G259R probably damaging Het
Znfx1 A T 2: 166,888,859 (GRCm39) V783E possibly damaging Het
Other mutations in Carmil2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Carmil2 APN 8 106,418,038 (GRCm39) missense probably benign 0.39
IGL01295:Carmil2 APN 8 106,422,148 (GRCm39) missense probably benign 0.44
IGL02055:Carmil2 APN 8 106,423,539 (GRCm39) splice site probably benign
IGL02532:Carmil2 APN 8 106,419,063 (GRCm39) critical splice donor site probably null
IGL02900:Carmil2 APN 8 106,422,151 (GRCm39) missense probably damaging 1.00
IGL03242:Carmil2 APN 8 106,417,952 (GRCm39) splice site probably benign
IGL03335:Carmil2 APN 8 106,423,661 (GRCm39) missense probably benign 0.14
Acubra UTSW 8 106,415,130 (GRCm39) nonsense probably null
bowler UTSW 8 106,417,437 (GRCm39) missense probably damaging 0.98
fedora UTSW 8 106,417,398 (GRCm39) missense possibly damaging 0.88
fez UTSW 8 106,419,677 (GRCm39) missense probably damaging 1.00
Panama UTSW 8 106,412,947 (GRCm39) critical splice donor site probably null
R0544:Carmil2 UTSW 8 106,417,867 (GRCm39) missense probably damaging 1.00
R2160:Carmil2 UTSW 8 106,423,680 (GRCm39) missense possibly damaging 0.94
R2512:Carmil2 UTSW 8 106,424,025 (GRCm39) missense probably benign 0.31
R2877:Carmil2 UTSW 8 106,422,055 (GRCm39) missense probably damaging 1.00
R2943:Carmil2 UTSW 8 106,419,564 (GRCm39) missense probably benign 0.17
R4038:Carmil2 UTSW 8 106,422,039 (GRCm39) missense probably damaging 0.99
R4615:Carmil2 UTSW 8 106,421,706 (GRCm39) missense possibly damaging 0.94
R4914:Carmil2 UTSW 8 106,420,175 (GRCm39) missense possibly damaging 0.85
R5106:Carmil2 UTSW 8 106,420,638 (GRCm39) splice site probably null
R5178:Carmil2 UTSW 8 106,423,521 (GRCm39) missense probably damaging 1.00
R5735:Carmil2 UTSW 8 106,424,663 (GRCm39) missense probably damaging 1.00
R5991:Carmil2 UTSW 8 106,418,023 (GRCm39) missense probably null 1.00
R6035:Carmil2 UTSW 8 106,419,195 (GRCm39) missense probably benign 0.27
R6035:Carmil2 UTSW 8 106,419,195 (GRCm39) missense probably benign 0.27
R6226:Carmil2 UTSW 8 106,415,664 (GRCm39) missense possibly damaging 0.88
R6411:Carmil2 UTSW 8 106,423,658 (GRCm39) missense probably damaging 1.00
R7263:Carmil2 UTSW 8 106,419,677 (GRCm39) missense probably damaging 1.00
R7368:Carmil2 UTSW 8 106,417,467 (GRCm39) missense possibly damaging 0.46
R7409:Carmil2 UTSW 8 106,419,423 (GRCm39) splice site probably null
R7597:Carmil2 UTSW 8 106,422,121 (GRCm39) missense probably damaging 1.00
R7674:Carmil2 UTSW 8 106,423,918 (GRCm39) missense possibly damaging 0.93
R7759:Carmil2 UTSW 8 106,423,668 (GRCm39) missense possibly damaging 0.94
R7864:Carmil2 UTSW 8 106,414,906 (GRCm39) missense probably damaging 1.00
R7921:Carmil2 UTSW 8 106,417,736 (GRCm39) missense probably damaging 1.00
R8057:Carmil2 UTSW 8 106,419,008 (GRCm39) missense probably benign 0.04
R8079:Carmil2 UTSW 8 106,413,393 (GRCm39) missense probably damaging 1.00
R8343:Carmil2 UTSW 8 106,417,716 (GRCm39) missense probably benign 0.05
R8353:Carmil2 UTSW 8 106,416,843 (GRCm39) missense probably damaging 1.00
R8366:Carmil2 UTSW 8 106,419,707 (GRCm39) missense probably benign 0.02
R8453:Carmil2 UTSW 8 106,416,843 (GRCm39) missense probably damaging 1.00
R8526:Carmil2 UTSW 8 106,415,447 (GRCm39) missense probably damaging 1.00
R8810:Carmil2 UTSW 8 106,412,947 (GRCm39) critical splice donor site probably null
R8925:Carmil2 UTSW 8 106,415,130 (GRCm39) nonsense probably null
R8927:Carmil2 UTSW 8 106,415,130 (GRCm39) nonsense probably null
R8944:Carmil2 UTSW 8 106,417,437 (GRCm39) missense probably damaging 0.98
R8952:Carmil2 UTSW 8 106,417,398 (GRCm39) missense possibly damaging 0.88
R9003:Carmil2 UTSW 8 106,423,905 (GRCm39) missense probably damaging 0.98
R9155:Carmil2 UTSW 8 106,412,922 (GRCm39) missense probably benign 0.12
R9318:Carmil2 UTSW 8 106,414,486 (GRCm39) missense probably benign 0.00
R9753:Carmil2 UTSW 8 106,417,539 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCAGACTGTAAGGTCAGAG -3'
(R):5'- TTAACATATCCAGTGGCCCTC -3'

Sequencing Primer
(F):5'- AGGGTGGAAACTGGCTTTACC -3'
(R):5'- TCACCAGCAGACACAGAGTGG -3'
Posted On 2016-06-15