Incidental Mutation 'R7864:Carmil2'
ID 607720
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 045917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R7864 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106412906-106424819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106414906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 184 (Y184C)
Ref Sequence ENSEMBL: ENSMUSP00000148422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000213019]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000213019
AA Change: Y184C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (48/48)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot2 C T 12: 84,034,796 (GRCm39) R41W probably benign Het
Adam32 T A 8: 25,412,292 (GRCm39) H88L probably benign Het
Ank1 A G 8: 23,577,976 (GRCm39) T238A probably damaging Het
Arid1b T C 17: 5,392,530 (GRCm39) L1967P probably damaging Het
Bbx G T 16: 50,082,797 (GRCm39) H216Q probably damaging Het
C030005K15Rik G A 10: 97,561,614 (GRCm39) T39M probably damaging Het
C1s2 A G 6: 124,602,246 (GRCm39) V655A probably benign Het
Ces1f G A 8: 94,000,769 (GRCm39) A125V possibly damaging Het
Chaf1a C T 17: 56,354,339 (GRCm39) T203I unknown Het
Cntn5 A G 9: 9,984,182 (GRCm39) S144P probably damaging Het
Cpa5 A T 6: 30,631,394 (GRCm39) Y436F probably damaging Het
Dbf4 A T 5: 8,460,010 (GRCm39) H150Q possibly damaging Het
Dlg5 G A 14: 24,295,280 (GRCm39) P80L probably damaging Het
Dock8 A T 19: 25,140,864 (GRCm39) D1360V possibly damaging Het
Ecm1 A T 3: 95,641,689 (GRCm39) I515N probably benign Het
Fancc A T 13: 63,548,073 (GRCm39) C75* probably null Het
Foxa1 A T 12: 57,589,533 (GRCm39) V229D probably damaging Het
Gga1 T C 15: 78,772,444 (GRCm39) M248T probably damaging Het
Gm1527 A G 3: 28,980,619 (GRCm39) Q573R probably benign Het
Hivep1 A C 13: 42,312,290 (GRCm39) H1510P probably benign Het
Htr1f A C 16: 64,747,157 (GRCm39) I45S probably damaging Het
Itsn1 T C 16: 91,598,454 (GRCm39) V129A possibly damaging Het
Klrg2 G T 6: 38,605,024 (GRCm39) Q347K possibly damaging Het
Lama2 G A 10: 26,932,611 (GRCm39) T1996I probably benign Het
Man1a C A 10: 53,906,843 (GRCm39) L219F possibly damaging Het
Mcub A G 3: 129,712,272 (GRCm39) I201T probably damaging Het
Or10q1 A G 19: 13,726,710 (GRCm39) D80G probably benign Het
Otogl A G 10: 107,705,428 (GRCm39) L633P probably damaging Het
Pate9 A T 9: 36,445,747 (GRCm39) F68Y probably benign Het
Pik3ca T A 3: 32,497,762 (GRCm39) L429* probably null Het
Pkhd1l1 T C 15: 44,389,449 (GRCm39) probably null Het
Pld4 C A 12: 112,731,557 (GRCm39) Q237K probably damaging Het
Plekhm2 T C 4: 141,355,357 (GRCm39) E897G probably damaging Het
Pomt2 A G 12: 87,169,656 (GRCm39) F475L probably benign Het
Popdc3 G A 10: 45,191,278 (GRCm39) A130T probably benign Het
Prss54 T C 8: 96,286,297 (GRCm39) K259E probably benign Het
Psg23 T G 7: 18,344,435 (GRCm39) N340T possibly damaging Het
Rab1a G T 11: 20,165,673 (GRCm39) G23* probably null Het
Rgs9 A T 11: 109,166,446 (GRCm39) F108Y probably damaging Het
Scn9a T A 2: 66,314,904 (GRCm39) T1605S possibly damaging Het
Sh2d4b G A 14: 40,562,208 (GRCm39) T319I probably damaging Het
Slc28a3 A T 13: 58,726,217 (GRCm39) probably null Het
Syngap1 A T 17: 27,189,502 (GRCm39) Q1286L Het
Tmem132d G A 5: 127,860,980 (GRCm39) T1047I probably damaging Het
Togaram2 G A 17: 72,007,935 (GRCm39) R420H probably damaging Het
Uimc1 G A 13: 55,241,080 (GRCm39) R3* probably null Het
Vmn2r7 C T 3: 64,598,947 (GRCm39) V537I probably benign Het
Wwp1 T A 4: 19,635,328 (GRCm39) K584N probably damaging Het
Zc3h12d A T 10: 7,715,723 (GRCm39) Q42L possibly damaging Het
Zfp729a A T 13: 67,769,569 (GRCm39) V220E probably benign Het
Zfp91 A G 19: 12,748,403 (GRCm39) V391A 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
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'- TCTTGGAAACATACGAAGCTCTG -3'
(R):5'- AAAGCCAGGTCTCTATCGCG -3'

Sequencing Primer
(F):5'- GTGCGATTACAATGGCTTCC -3'
(R):5'- TCTCTATCGCGGGGAAGAG -3'
Posted On 2019-12-20