Incidental Mutation 'R5991:Carmil2'
ID 482016
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 044171-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5991 (G1)
Quality Score 210.009
Status Validated
Chromosome 8
Chromosomal Location 106412906-106424819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106418023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 679 (Q679R)
Ref Sequence ENSEMBL: ENSMUSP00000148422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062574] [ENSMUST00000062574] [ENSMUST00000211870] [ENSMUST00000213019] [ENSMUST00000213019]
AlphaFold no structure available at present
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 noncoding transcript
Transcript: ENSMUST00000212643
Predicted Effect probably null
Transcript: ENSMUST00000213019
AA Change: Q679R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably null
Transcript: ENSMUST00000213019
AA Change: Q679R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.0887 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 96% (53/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G A 8: 111,777,032 (GRCm39) R683Q probably damaging Het
Adam8 T A 7: 139,570,200 (GRCm39) H69L probably damaging Het
Bbs2 G T 8: 94,824,914 (GRCm39) R23S probably benign Het
Bod1l A T 5: 41,974,206 (GRCm39) C2369* probably null Het
Capn11 G T 17: 45,970,278 (GRCm39) probably null Het
Cep120 T C 18: 53,854,870 (GRCm39) I422V probably benign Het
Cnot7 A C 8: 40,948,696 (GRCm39) probably null Het
Col1a1 T C 11: 94,828,745 (GRCm39) V29A unknown Het
Dnttip1 A T 2: 164,596,100 (GRCm39) Q115L possibly damaging Het
Dyrk4 A G 6: 126,857,188 (GRCm39) V497A probably benign Het
Ep300 A G 15: 81,532,667 (GRCm39) D1635G unknown Het
Ercc5 T A 1: 44,219,990 (GRCm39) C1087* probably null Het
Fap A T 2: 62,348,865 (GRCm39) M517K probably damaging Het
Focad C A 4: 88,319,256 (GRCm39) D1574E possibly damaging Het
Fsip2 C T 2: 82,820,812 (GRCm39) P5515L probably benign Het
Gpr158 T C 2: 21,373,319 (GRCm39) Y85H probably damaging Het
Hc A G 2: 34,896,117 (GRCm39) V1222A possibly damaging Het
Hipk3 C T 2: 104,268,328 (GRCm39) M546I probably damaging Het
Jup T C 11: 100,270,395 (GRCm39) N371D possibly damaging Het
Ltbp4 A G 7: 27,008,741 (GRCm39) Y1262H probably damaging Het
Lyar A G 5: 38,385,209 (GRCm39) E83G probably damaging Het
Lyg2 C T 1: 37,954,800 (GRCm39) probably null Het
Mtmr11 T A 3: 96,075,905 (GRCm39) probably null Het
Myct1 A T 10: 5,554,426 (GRCm39) R98* probably null Het
Nol11 T C 11: 107,061,971 (GRCm39) T612A probably benign Het
Or2l5 T C 16: 19,333,507 (GRCm39) N293S probably damaging Het
Or4b1d T A 2: 89,968,578 (GRCm39) K302* probably null Het
Or4c113 C T 2: 88,885,126 (GRCm39) V215I probably benign Het
Or4f61 C T 2: 111,922,960 (GRCm39) V29M probably benign Het
Or5m9 A G 2: 85,877,254 (GRCm39) I143V probably benign Het
Parp14 G A 16: 35,661,827 (GRCm39) P1403S probably benign Het
Pcdhb3 T C 18: 37,434,561 (GRCm39) S176P probably benign Het
Pdcd1lg2 C T 19: 29,431,867 (GRCm39) R212W probably benign Het
Plin3 T C 17: 56,593,576 (GRCm39) Y46C probably damaging Het
Rfx7 G A 9: 72,526,820 (GRCm39) E1337K possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ryr1 G T 7: 28,804,035 (GRCm39) N584K probably damaging Het
Scmh1 T C 4: 120,379,817 (GRCm39) V544A probably benign Het
Sdk2 G A 11: 113,834,080 (GRCm39) T34M probably damaging Het
Serpinb9e T A 13: 33,443,790 (GRCm39) L270H probably damaging Het
Shoc2 T A 19: 53,991,480 (GRCm39) N248K probably damaging Het
Sirpd G T 3: 15,385,818 (GRCm39) A28E probably benign Het
Slc25a4 T C 8: 46,662,373 (GRCm39) Y95C probably damaging Het
Slc4a1ap A G 5: 31,691,413 (GRCm39) N403S possibly damaging Het
Spink10 T A 18: 62,790,956 (GRCm39) W7R probably null Het
Ssrp1 A G 2: 84,872,640 (GRCm39) K426R possibly damaging Het
Tbc1d24 G A 17: 24,428,043 (GRCm39) probably benign Het
Tead3 A T 17: 28,553,352 (GRCm39) probably null Het
Timd4 A G 11: 46,734,030 (GRCm39) *344W probably null Het
Tmem181a T A 17: 6,339,312 (GRCm39) W115R probably damaging Het
Tmem245 G A 4: 56,916,733 (GRCm39) T65I probably damaging Het
Vmn1r12 G C 6: 57,136,640 (GRCm39) V202L probably damaging Het
Vmn1r80 A G 7: 11,927,423 (GRCm39) T178A probably benign Het
Vps33b T A 7: 79,933,162 (GRCm39) probably null Het
Zmym6 T A 4: 127,002,266 (GRCm39) probably null 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
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'- TGCCACTGAATGACGTAACC -3'
(R):5'- AAAGCAGCCAAATGTTACACGG -3'

Sequencing Primer
(F):5'- TGAATGACGTAACCCAGGCTC -3'
(R):5'- TTACACGGGAAGCTGTTTCAAG -3'
Posted On 2017-06-26