Incidental Mutation 'R5178:Carmil2'
ID 399477
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 042758-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5178 (G1)
Quality Score 225
Status Not 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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 G T 13: 23,606,819 (GRCm39) A94E possibly damaging Het
Cndp2 A T 18: 84,693,153 (GRCm39) N202K probably benign Het
Cyp2c66 A G 19: 39,159,473 (GRCm39) Y308C probably damaging Het
Dhx29 T G 13: 113,069,134 (GRCm39) S155A possibly damaging Het
Dnah7b T G 1: 46,397,376 (GRCm39) F3936V possibly damaging Het
Dsg1b G A 18: 20,530,560 (GRCm39) G405E probably damaging Het
Exo5 A T 4: 120,778,734 (GRCm39) probably null Het
Fam171b T C 2: 83,710,331 (GRCm39) F668L probably damaging Het
Gemin5 A T 11: 58,037,344 (GRCm39) S624T probably benign Het
Gpc2 C A 5: 138,273,867 (GRCm39) V444L possibly damaging Het
Hephl1 T A 9: 14,997,468 (GRCm39) K399N probably damaging Het
Lair1 G A 7: 4,013,488 (GRCm39) T82I possibly damaging Het
Lhx1 G T 11: 84,411,214 (GRCm39) A155E possibly damaging Het
Maip1 G A 1: 57,454,849 (GRCm39) D278N probably benign 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
Mmp17 T A 5: 129,672,122 (GRCm39) W132R probably damaging Het
Or4p7 C T 2: 88,221,819 (GRCm39) T76I possibly damaging Het
Or7e174 T A 9: 20,012,488 (GRCm39) C144* probably null Het
Pds5a T C 5: 65,821,218 (GRCm39) T169A probably damaging Het
Pfkm A G 15: 98,029,396 (GRCm39) N697D probably benign 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
Ranbp2 T A 10: 58,312,607 (GRCm39) M1109K probably benign 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
Slc22a26 T C 19: 7,767,540 (GRCm39) T289A possibly damaging Het
Sp2 A G 11: 96,846,664 (GRCm39) F554L probably benign Het
Sp4 A G 12: 118,225,624 (GRCm39) V580A possibly damaging Het
Tbc1d19 T A 5: 54,046,667 (GRCm39) S413T possibly damaging Het
Tecta T C 9: 42,286,481 (GRCm39) D725G probably damaging Het
Tmem200a T A 10: 25,870,277 (GRCm39) Q4H probably benign Het
Tpx2 T A 2: 152,717,469 (GRCm39) I122N probably benign Het
Trgc4 A G 13: 19,528,932 (GRCm39) probably benign Het
Ube4b T C 4: 149,427,449 (GRCm39) M900V probably damaging Het
Vmn1r87 G T 7: 12,865,792 (GRCm39) A165E possibly damaging Het
Vmn2r95 A G 17: 18,660,337 (GRCm39) T250A probably benign Het
Wasf1 G A 10: 40,813,672 (GRCm39) R518H unknown 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
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
R5125: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'- ATCCCAGACTGTAAGGTCAGAGG -3'
(R):5'- ACATATCCAGTGGCCCTCAC -3'

Sequencing Primer
(F):5'- AGGGTGGAAACTGGCTTTACC -3'
(R):5'- TCACCAGCAGACACAGAGTGG -3'
Posted On 2016-07-06