Incidental Mutation 'R2512:Carmil2'
ID 253456
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 040418-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R2512 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 106412906-106424819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106424025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1293 (I1293F)
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 benign
Transcript: ENSMUST00000213019
AA Change: I1293F

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212643
Predicted Effect probably benign
Transcript: ENSMUST00000212352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212972
Predicted Effect probably benign
Transcript: ENSMUST00000212642
Predicted Effect probably benign
Transcript: ENSMUST00000212650
Predicted Effect probably benign
Transcript: ENSMUST00000212430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212687
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,219,945 (GRCm39) T831A possibly damaging Het
Actg2 T A 6: 83,503,829 (GRCm39) I72F probably damaging Het
Add1 A G 5: 34,774,030 (GRCm39) T80A probably benign Het
Alpk2 G A 18: 65,483,591 (GRCm39) T139M probably damaging Het
Aplp2 C T 9: 31,078,973 (GRCm39) R325H probably damaging Het
Aptx G A 4: 40,694,917 (GRCm39) P140S probably benign Het
Carm1 A G 9: 21,486,708 (GRCm39) probably null Het
Cdh8 T C 8: 100,127,495 (GRCm39) T39A probably benign Het
Cimip3 T C 17: 47,724,651 (GRCm39) T60A probably benign Het
Col15a1 T A 4: 47,245,868 (GRCm39) N206K possibly damaging Het
Copg2 C T 6: 30,873,591 (GRCm39) probably null Het
Ctr9 T G 7: 110,646,078 (GRCm39) I690S probably damaging Het
Dcaf8 T G 1: 172,016,602 (GRCm39) I463S possibly damaging Het
Dcp1b G T 6: 119,183,473 (GRCm39) A187S possibly damaging Het
Ddo T A 10: 40,508,935 (GRCm39) D58E possibly damaging Het
Dkkl1 G T 7: 44,857,157 (GRCm39) R137S probably damaging Het
Dxo A G 17: 35,056,718 (GRCm39) N115S probably benign Het
Ep400 A T 5: 110,856,781 (GRCm39) probably benign Het
F11 A G 8: 45,714,098 (GRCm39) V7A probably benign Het
Fermt1 G T 2: 132,781,438 (GRCm39) probably null Het
Fign A T 2: 63,810,143 (GRCm39) F376I probably benign Het
Flg2 G T 3: 93,109,082 (GRCm39) G370V probably damaging Het
Fndc3a A T 14: 72,793,715 (GRCm39) D953E probably benign Het
Fsip2 A T 2: 82,808,511 (GRCm39) H1610L probably benign Het
Gfra3 T C 18: 34,837,564 (GRCm39) N145D probably benign Het
Inpp4b G T 8: 82,737,179 (GRCm39) W525C probably damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Lgi2 A G 5: 52,695,307 (GRCm39) *543R probably null Het
Lyn A G 4: 3,745,542 (GRCm39) T114A probably benign Het
Lynx1 A G 15: 74,623,169 (GRCm39) Y88H probably damaging Het
Map4 C A 9: 109,863,770 (GRCm39) P332T possibly damaging Het
Mapk8ip3 A T 17: 25,133,677 (GRCm39) C250* probably null Het
Metap1d A G 2: 71,352,954 (GRCm39) H261R probably damaging Het
Mfrp T C 9: 44,013,835 (GRCm39) V115A probably benign Het
Mtbp A G 15: 55,440,932 (GRCm39) Y373C probably damaging Het
Mtor C A 4: 148,614,948 (GRCm39) R1628S possibly damaging Het
Muc5b A G 7: 141,412,813 (GRCm39) N1920D unknown Het
Myo1d T A 11: 80,670,543 (GRCm39) M26L probably benign Het
Neb A C 2: 52,100,843 (GRCm39) D643E probably damaging Het
Nme1 A G 11: 93,851,513 (GRCm39) F108L possibly damaging Het
Or2r11 A G 6: 42,437,207 (GRCm39) S249P probably damaging Het
Or8c15 G T 9: 38,120,670 (GRCm39) C54F probably damaging Het
Pan2 T A 10: 128,140,326 (GRCm39) D82E probably damaging Het
Pclo A G 5: 14,762,612 (GRCm39) D3695G unknown Het
Pcnx4 A T 12: 72,603,573 (GRCm39) probably null Het
Plg A G 17: 12,622,116 (GRCm39) T479A probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Pramel32 T G 4: 88,547,195 (GRCm39) M246L probably damaging Het
Ptgis T C 2: 167,049,196 (GRCm39) D372G probably damaging Het
Ranbp3l A G 15: 8,997,949 (GRCm39) T14A probably benign Het
Rcc1l A T 5: 134,195,508 (GRCm39) V230D probably damaging Het
Reln T C 5: 22,184,688 (GRCm39) D1609G possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ryr1 G A 7: 28,802,967 (GRCm39) L696F possibly damaging Het
Sacs T A 14: 61,440,529 (GRCm39) D858E probably benign Het
Sec16a C T 2: 26,329,037 (GRCm39) V993I probably benign Het
Skint5 T A 4: 113,487,616 (GRCm39) I901F unknown Het
Slc17a3 A T 13: 24,030,230 (GRCm39) I114F probably benign Het
Slc17a7 T A 7: 44,818,288 (GRCm39) L71Q probably damaging Het
Slc43a2 T C 11: 75,461,403 (GRCm39) S452P probably damaging Het
Smarca4 A G 9: 21,546,994 (GRCm39) N173S possibly damaging Het
Tbc1d21 T C 9: 58,270,195 (GRCm39) Y161C probably damaging Het
Tpsab1 C A 17: 25,564,081 (GRCm39) C94F probably damaging Het
Ubr5 G A 15: 38,002,563 (GRCm39) P1496L probably damaging Het
Unc80 G T 1: 66,710,767 (GRCm39) A2679S possibly damaging Het
Vdac1 T A 11: 52,274,904 (GRCm39) V184E probably damaging Het
Vmn2r24 T A 6: 123,763,985 (GRCm39) S287R probably benign Het
Vmn2r91 T C 17: 18,356,048 (GRCm39) F572L probably benign Het
Vps13b G A 15: 35,884,701 (GRCm39) E3125K probably benign Het
Ythdf3 A G 3: 16,259,059 (GRCm39) N406S possibly damaging Het
Zfp708 T C 13: 67,219,251 (GRCm39) K158E probably 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
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
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'- AGATCCCTCATGCAGACCTG -3'
(R):5'- CTCATGCACAGACACTGCTC -3'

Sequencing Primer
(F):5'- TCATGCAGACCTGGGCCAG -3'
(R):5'- CCTCAGCTGGCCATCTAGAG -3'
Posted On 2014-12-04