Incidental Mutation 'R8526:Carmil2'
ID 658810
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 067951-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R8526 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106412906-106424819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106415447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 265 (A265V)
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: A265V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (42/42)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,417,935 (GRCm39) C706* probably null Het
4930522L14Rik T C 5: 109,885,655 (GRCm39) I68V possibly damaging Het
4931422A03Rik G A 2: 103,856,499 (GRCm39) R21C unknown Het
Actr5 T G 2: 158,474,224 (GRCm39) F342L probably damaging Het
Adamts13 T C 2: 26,868,012 (GRCm39) V124A probably benign Het
Amotl1 T C 9: 14,473,492 (GRCm39) E606G probably damaging Het
Cdh22 T C 2: 164,954,178 (GRCm39) E781G probably damaging Het
Dennd1b G A 1: 138,950,858 (GRCm39) W33* probably null Het
Dlc1 C T 8: 37,404,968 (GRCm39) V274I probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Ect2l C T 10: 18,020,375 (GRCm39) E582K probably benign Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Ift88 A T 14: 57,683,126 (GRCm39) K40* probably null Het
Igkv4-72 A G 6: 69,204,140 (GRCm39) V17A probably benign Het
Klhl28 T G 12: 64,998,400 (GRCm39) T365P probably damaging Het
Krt16 T A 11: 100,137,309 (GRCm39) Y434F probably benign Het
Lyst T A 13: 13,935,391 (GRCm39) V3620E probably damaging Het
Mcm9 A T 10: 53,506,221 (GRCm39) probably benign Het
Mef2a T C 7: 66,901,473 (GRCm39) M100V possibly damaging Het
Mos T C 4: 3,871,709 (GRCm39) K36E probably damaging Het
Ncapg2 T C 12: 116,403,679 (GRCm39) Y864H probably benign Het
Or1o2 A G 17: 37,542,470 (GRCm39) S264P probably damaging Het
Or4k2 C T 14: 50,423,719 (GRCm39) probably null Het
Parp14 A T 16: 35,661,307 (GRCm39) I1547N possibly damaging Het
Pcdh18 A T 3: 49,710,023 (GRCm39) Y431N probably damaging Het
Phyhd1 T C 2: 30,156,955 (GRCm39) probably null Het
Pkd2 T C 5: 104,637,102 (GRCm39) F572L probably damaging Het
Rasgrf1 T A 9: 89,856,901 (GRCm39) I453N probably damaging Het
Robo4 T A 9: 37,314,801 (GRCm39) C218* probably null Het
Rrbp1 A G 2: 143,816,403 (GRCm39) V742A probably benign Het
Serpinb3a A T 1: 106,976,504 (GRCm39) probably null Het
Sgsm2 T G 11: 74,759,847 (GRCm39) E97A probably benign Het
Smad4 A T 18: 73,790,330 (GRCm39) probably null Het
Snd1 T C 6: 28,745,253 (GRCm39) Y533H probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Stk36 A G 1: 74,673,703 (GRCm39) T1199A probably benign Het
Veph1 T A 3: 66,066,737 (GRCm39) N417I probably benign Het
Vmn1r8 A G 6: 57,013,362 (GRCm39) S138G probably benign Het
Vmn2r10 C T 5: 109,145,572 (GRCm39) V512I possibly damaging Het
Zfp740 A G 15: 102,116,726 (GRCm39) D47G probably null Het
Zfp810 T C 9: 22,189,586 (GRCm39) K441E 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
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
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'- ATGAGTCACGACCCTCTTGC -3'
(R):5'- ACAATGCTCTAGGTGTCTGCTG -3'

Sequencing Primer
(F):5'- CCTGGAGGTCTCAGAACAGATTC -3'
(R):5'- TGAGTGCAGCCATACCTGTG -3'
Posted On 2021-01-18