Incidental Mutation 'R8366:Carmil2'
ID 646176
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 067737-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R8366 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 106412906-106424819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106419707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 838 (S838G)
Ref Sequence ENSEMBL: ENSMUSP00000148422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042608] [ENSMUST00000211870] [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 probably benign
Transcript: ENSMUST00000211870
Predicted Effect probably benign
Transcript: ENSMUST00000213019
AA Change: S838G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,067,521 (GRCm39) Q590* probably null Het
Adnp2 T C 18: 80,173,725 (GRCm39) D228G probably damaging Het
Adrb2 T A 18: 62,311,775 (GRCm39) Y350F probably benign Het
Agbl4 T C 4: 111,423,861 (GRCm39) S296P probably damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Ampd1 A T 3: 102,995,810 (GRCm39) D240V probably damaging Het
Armh3 T C 19: 45,920,793 (GRCm39) Y468C probably damaging Het
Cdh23 A G 10: 60,160,799 (GRCm39) F2056L probably benign Het
Cyp4x1 A T 4: 114,970,063 (GRCm39) S381T probably benign Het
Ddx20 A G 3: 105,594,695 (GRCm39) S17P probably benign Het
Dlgap4 C A 2: 156,542,694 (GRCm39) Y32* probably null Het
Dmbt1 T C 7: 130,668,330 (GRCm39) F529L unknown Het
Ei24 A G 9: 36,697,800 (GRCm39) S117P possibly damaging Het
Esyt1 T G 10: 128,352,422 (GRCm39) N730H possibly damaging Het
Gcfc2 A G 6: 81,900,782 (GRCm39) E32G probably benign Het
Lama1 T C 17: 68,125,699 (GRCm39) I2952T Het
Mkrn3 A T 7: 62,069,543 (GRCm39) S83T probably benign Het
Ncoa2 T A 1: 13,250,830 (GRCm39) D284V probably damaging Het
Or10w1 A G 19: 13,631,903 (GRCm39) S37G probably damaging Het
Osmr T A 15: 6,850,435 (GRCm39) T724S possibly damaging Het
Pex1 A G 5: 3,676,007 (GRCm39) E825G probably benign Het
Ranbp6 A G 19: 29,789,299 (GRCm39) L351P probably damaging Het
Rbm20 C T 19: 53,838,612 (GRCm39) T863I possibly damaging Het
Rcbtb2 T C 14: 73,444,632 (GRCm39) S506P probably benign Het
Rdh12 T A 12: 79,258,288 (GRCm39) I105N probably damaging Het
Ror1 A G 4: 100,267,195 (GRCm39) I299V possibly damaging Het
Rpap3 C T 15: 97,579,548 (GRCm39) R488K probably benign Het
Rps6kb1 A C 11: 86,402,655 (GRCm39) V346G probably damaging Het
Setd2 T C 9: 110,377,816 (GRCm39) S544P probably damaging Het
Sis A T 3: 72,865,566 (GRCm39) V162E probably damaging Het
Slc16a10 A G 10: 39,952,867 (GRCm39) V209A probably benign Het
Srsf12 C G 4: 33,226,070 (GRCm39) P111R probably damaging Het
Teddm2 G T 1: 153,726,575 (GRCm39) H47N probably damaging Het
Tmem74 C T 15: 43,730,315 (GRCm39) G243R probably damaging Het
Trmt10c C T 16: 55,854,426 (GRCm39) R403Q probably benign Het
Vps11 A T 9: 44,267,052 (GRCm39) Y394* probably null Het
Zscan10 G T 17: 23,828,952 (GRCm39) R498L 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
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
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'- AGATGTTGCAGACACCTGG -3'
(R):5'- GCCTCTCCACCTGTAATACCAG -3'

Sequencing Primer
(F):5'- ACACCTGGCTGGAGGAAGC -3'
(R):5'- GGCCACCCAAAGATAGGCAG -3'
Posted On 2020-09-02