Incidental Mutation 'R4038:Carmil2'
ID 313798
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 040965-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R4038 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106412906-106424819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106422039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 1103 (R1103S)
Ref Sequence ENSEMBL: ENSMUSP00000148422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042608] [ENSMUST00000062574] [ENSMUST00000211870] [ENSMUST00000212642] [ENSMUST00000212650] [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 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 damaging
Transcript: ENSMUST00000213019
AA Change: R1103S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212687
Meta Mutation Damage Score 0.1078 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.1%
Validation Efficiency 93% (39/42)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ate1 A G 7: 130,106,495 (GRCm39) S282P probably damaging Het
Cacna1d T A 14: 29,788,040 (GRCm39) Q1610L probably damaging Het
Clca3a1 T A 3: 144,460,994 (GRCm39) Y219F probably benign Het
Creb3l3 A G 10: 80,925,172 (GRCm39) V224A probably benign Het
Crnkl1 T A 2: 145,774,247 (GRCm39) D72V possibly damaging Het
Dhcr24 T C 4: 106,431,075 (GRCm39) F255L probably benign Het
Eef2kmt A T 16: 5,063,135 (GRCm39) V335D probably damaging Het
Elp2 T A 18: 24,767,405 (GRCm39) W696R probably damaging Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gm4787 A T 12: 81,425,132 (GRCm39) F342Y probably damaging Het
Gpr137c C A 14: 45,457,687 (GRCm39) L80I probably damaging Het
Gpr83 A G 9: 14,772,073 (GRCm39) I82V possibly damaging Het
Greb1l C T 18: 10,515,209 (GRCm39) T558I possibly damaging Het
Hnrnpul2 T A 19: 8,800,591 (GRCm39) probably benign Het
Hspa2 T C 12: 76,452,542 (GRCm39) V412A probably damaging Het
Iqcd T C 5: 120,740,587 (GRCm39) V306A probably damaging Het
Lmod3 T C 6: 97,225,275 (GRCm39) N182S probably benign Het
Metrn T C 17: 26,013,984 (GRCm39) T281A probably benign Het
Mid1-ps1 G A Y: 90,773,563 (GRCm39) noncoding transcript Het
Mmachc T A 4: 116,563,215 (GRCm39) T47S probably damaging Het
Nfia C A 4: 97,909,074 (GRCm39) R277S probably damaging Het
Or9m2 T A 2: 87,821,262 (GRCm39) I269N possibly damaging Het
Pcdha8 T C 18: 37,125,914 (GRCm39) M132T probably benign Het
Prkaa2 T C 4: 104,908,444 (GRCm39) N144D probably damaging Het
Ptprf C T 4: 118,114,805 (GRCm39) R150H probably damaging Het
Sfmbt1 T G 14: 30,509,449 (GRCm39) D309E probably damaging Het
Skint5 G T 4: 113,743,011 (GRCm39) T352K unknown Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc28a2 C A 2: 122,284,996 (GRCm39) A328E probably benign Het
Ssc4d C A 5: 135,999,170 (GRCm39) W11L possibly damaging Het
Sycp2 C A 2: 178,022,720 (GRCm39) M470I possibly damaging Het
Tfap2c A T 2: 172,398,110 (GRCm39) S413C probably damaging Het
Unc13c A G 9: 73,441,188 (GRCm39) probably null Het
Vmn1r218 T C 13: 23,320,971 (GRCm39) V26A possibly damaging Het
Wipf3 G A 6: 54,458,813 (GRCm39) G56D probably damaging Het
Wiz T C 17: 32,578,198 (GRCm39) E429G probably damaging Het
Zer1 T C 2: 29,997,535 (GRCm39) N457S probably damaging Het
Zfp931 T A 2: 177,709,777 (GRCm39) Q203L possibly 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
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
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'- GATGGTTATTCCTACAGCTGGGC -3'
(R):5'- TGCTCTCTGTTCCTGAGGAG -3'

Sequencing Primer
(F):5'- AGGATCCAGCCACTGAGG -3'
(R):5'- TGAGGAGCCTCAGCCCC -3'
Posted On 2015-04-30