Incidental Mutation 'R5106:Carmil2'
ID 392634
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 042694-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5106 (G1)
Quality Score 169
Status Validated
Chromosome 8
Chromosomal Location 106412906-106424819 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 106420638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042608] [ENSMUST00000062574] [ENSMUST00000062574] [ENSMUST00000062574] [ENSMUST00000062574] [ENSMUST00000211870] [ENSMUST00000212642] [ENSMUST00000212650] [ENSMUST00000213019] [ENSMUST00000213019] [ENSMUST00000213019] [ENSMUST00000213019]
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 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 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 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: ENSMUST00000211870
Predicted Effect probably benign
Transcript: ENSMUST00000212642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212643
Predicted Effect probably benign
Transcript: ENSMUST00000212650
Predicted Effect probably null
Transcript: ENSMUST00000213019
Predicted Effect probably null
Transcript: ENSMUST00000213019
Predicted Effect probably null
Transcript: ENSMUST00000213019
Predicted Effect probably null
Transcript: ENSMUST00000213019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212687
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (62/62)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C1qtnf2 G A 11: 43,376,880 (GRCm39) R84Q possibly damaging Het
Cenpf A T 1: 189,416,005 (GRCm39) C107S probably benign Het
Cideb T C 14: 55,991,982 (GRCm39) M191V probably benign Het
Cope C A 8: 70,763,097 (GRCm39) R213S possibly damaging Het
Ctcf T C 8: 106,408,130 (GRCm39) probably benign Het
Daam2 T C 17: 49,783,489 (GRCm39) Y647C probably damaging Het
Dlg2 T C 7: 92,091,894 (GRCm39) Y920H probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fdps C A 3: 89,006,710 (GRCm39) R127L probably damaging Het
G6pd2 C T 5: 61,967,695 (GRCm39) T490I probably benign Het
Gm6401 A G 14: 41,787,463 (GRCm39) M121T probably damaging Het
Gnl2 T C 4: 124,947,329 (GRCm39) probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtf2a1l A G 17: 89,002,073 (GRCm39) S310G possibly damaging Het
Igdcc4 T C 9: 65,031,983 (GRCm39) F500L probably damaging Het
Lgr4 A T 2: 109,827,940 (GRCm39) H207L probably damaging Het
Llcfc1 A G 6: 41,662,310 (GRCm39) M105V probably benign Het
Macroh2a1 A G 13: 56,236,106 (GRCm39) V213A possibly damaging Het
Map2k3 A G 11: 60,832,708 (GRCm39) K18E probably damaging Het
Mccc1 T A 3: 36,026,713 (GRCm39) D528V probably benign Het
Nedd4l C T 18: 65,326,376 (GRCm39) T568M probably damaging Het
Nr3c1 A C 18: 39,619,654 (GRCm39) I211S possibly damaging Het
Nudt5 C T 2: 5,859,640 (GRCm39) probably benign Het
Or2ag20 T A 7: 106,464,595 (GRCm39) M136K probably damaging Het
Or5d46 T C 2: 88,170,454 (GRCm39) Y182H probably benign Het
Or6c202 T C 10: 128,996,106 (GRCm39) Y249C probably damaging Het
Or9k2b A T 10: 130,016,177 (GRCm39) S191T probably benign Het
Pcid2 A T 8: 13,129,648 (GRCm39) F326I probably damaging Het
Pcnt A T 10: 76,237,278 (GRCm39) I1336N probably damaging Het
Pomk T C 8: 26,476,404 (GRCm39) D50G probably benign Het
Ppp2r2a T C 14: 67,260,546 (GRCm39) Y244C probably damaging Het
Ptprz1 A G 6: 23,000,027 (GRCm39) T706A probably benign Het
Rad54l G A 4: 115,956,961 (GRCm39) probably benign Het
Raph1 T C 1: 60,572,459 (GRCm39) D36G probably damaging Het
Rgs7 A G 1: 174,904,416 (GRCm39) S166P possibly damaging Het
Rnf183 C G 4: 62,346,465 (GRCm39) R111P probably damaging Het
Rp1l1 A T 14: 64,265,395 (GRCm39) D327V probably damaging Het
Rpl3l A G 17: 24,951,411 (GRCm39) Y156C probably damaging Het
Slc25a54 G T 3: 109,020,180 (GRCm39) C398F probably benign Het
Slc39a2 A G 14: 52,132,988 (GRCm39) *310W probably null Het
Slit3 T C 11: 35,503,194 (GRCm39) C464R probably damaging Het
Smu1 A T 4: 40,743,104 (GRCm39) F345I possibly damaging Het
Ssc5d T A 7: 4,939,664 (GRCm39) V700E probably benign Het
Stxbp3 T C 3: 108,702,243 (GRCm39) Y521C probably benign Het
Tenm4 T C 7: 96,492,356 (GRCm39) S1061P probably damaging Het
Thoc5 T C 11: 4,860,630 (GRCm39) S103P probably damaging Het
Tmem221 A G 8: 72,008,522 (GRCm39) F173L probably benign Het
Trit1 T C 4: 122,948,106 (GRCm39) probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r106 T C 17: 20,499,395 (GRCm39) probably null Het
Vmn2r38 C A 7: 9,078,169 (GRCm39) V738L possibly damaging Het
Zfp160 T A 17: 21,247,023 (GRCm39) H524Q probably damaging Het
Zfp791 T A 8: 85,837,259 (GRCm39) K202* probably null Het
Zfp985 T A 4: 147,668,612 (GRCm39) S493R probably damaging Het
Zkscan7 T C 9: 122,725,198 (GRCm39) probably benign Het
Zwilch A C 9: 64,060,866 (GRCm39) F329V 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
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
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'- GCTGTTCTCAGAACCCTGTG -3'
(R):5'- TGAAGAGTGAATGGTCCACCC -3'

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