Incidental Mutation 'R7263:Carmil2'
ID 564757
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 045388-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R7263 (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 106419677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 828 (R828C)
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 damaging
Transcript: ENSMUST00000213019
AA Change: R828C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 96% (67/70)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C A 3: 121,847,843 (GRCm39) H55N probably damaging Het
Acan G T 7: 78,742,066 (GRCm39) V488L probably damaging Het
Adam12 T C 7: 133,521,240 (GRCm39) E638G possibly damaging Het
Adamts20 T A 15: 94,220,772 (GRCm39) Q1387L possibly damaging Het
Adamts3 G T 5: 89,825,601 (GRCm39) D1079E probably benign Het
Barx1 G T 13: 48,818,555 (GRCm39) G93C probably damaging Het
Catsper4 TTCTC TTC 4: 133,954,423 (GRCm39) probably null Het
Ccdc159 T C 9: 21,843,007 (GRCm39) M148T probably benign Het
Cdk5rap1 T A 2: 154,202,652 (GRCm39) N193Y probably benign Het
Csnk1g2 G A 10: 80,470,332 (GRCm39) G15D probably damaging Het
Dach1 T C 14: 98,406,295 (GRCm39) S151G probably benign Het
Elf5 C A 2: 103,269,645 (GRCm39) N75K probably benign Het
Elp3 T C 14: 65,802,782 (GRCm39) D272G probably damaging Het
Epb41l1 T A 2: 156,337,043 (GRCm39) probably null Het
Epha6 A G 16: 59,596,028 (GRCm39) Y888H probably damaging Het
Fibcd1 T C 2: 31,707,222 (GRCm39) Y345C probably damaging Het
Gjd3 C T 11: 102,690,963 (GRCm39) E347K possibly damaging Het
Gse1 A G 8: 121,300,910 (GRCm39) D892G unknown Het
Gtpbp6 A T 5: 110,251,915 (GRCm39) I506N probably benign Het
Hivep1 T A 13: 42,311,668 (GRCm39) F1303I possibly damaging Het
Il21r A G 7: 125,232,077 (GRCm39) T502A probably benign Het
Ints1 T C 5: 139,749,834 (GRCm39) T997A possibly damaging Het
Invs C A 4: 48,396,381 (GRCm39) N351K probably damaging Het
Iqcm A G 8: 76,489,701 (GRCm39) T390A probably benign Het
Iqcn A G 8: 71,163,425 (GRCm39) N873D possibly damaging Het
Kcnh4 C T 11: 100,632,643 (GRCm39) G948D probably benign Het
Kcnh7 T A 2: 62,566,314 (GRCm39) probably null Het
Lrrc72 A G 12: 36,258,611 (GRCm39) V82A probably damaging Het
Macf1 A T 4: 123,271,943 (GRCm39) L6535Q probably damaging Het
Ncor2 G C 5: 125,109,196 (GRCm39) L585V Het
Nipal2 G C 15: 34,578,904 (GRCm39) Y298* probably null Het
Nipsnap1 C T 11: 4,832,960 (GRCm39) probably benign Het
Or12e1 T A 2: 87,022,476 (GRCm39) C148* probably null Het
Or4x12-ps1 T C 2: 89,916,332 (GRCm39) I158V not run Het
Or51g1 A T 7: 102,633,524 (GRCm39) Y282* probably null Het
Pcdhga4 C T 18: 37,819,873 (GRCm39) T474I probably benign Het
Pdp1 G T 4: 11,960,821 (GRCm39) Q516K possibly damaging Het
Pik3c2b C T 1: 133,017,940 (GRCm39) P934L probably damaging Het
Pp2d1 A G 17: 53,822,358 (GRCm39) I236T probably benign Het
Pygm G A 19: 6,438,357 (GRCm39) R278H probably damaging Het
Rb1 A T 14: 73,520,363 (GRCm39) C215* probably null Het
Rgs22 A G 15: 36,015,789 (GRCm39) S1156P possibly damaging Het
Rgs9bp T C 7: 35,284,126 (GRCm39) T174A probably damaging Het
Rnf133 A T 6: 23,649,667 (GRCm39) Y130* probably null Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Serpinb6e A T 13: 34,022,923 (GRCm39) F153L probably benign Het
Slc22a1 A T 17: 12,885,587 (GRCm39) Y200N probably damaging Het
Slc22a22 C A 15: 57,113,107 (GRCm39) M377I probably benign Het
Slc36a4 A G 9: 15,633,452 (GRCm39) probably null Het
Slc39a6 A G 18: 24,734,260 (GRCm39) V143A probably benign Het
Slf2 G A 19: 44,926,863 (GRCm39) probably null Het
Sowaha T C 11: 53,370,485 (GRCm39) K84E probably benign Het
Spef2 T G 15: 9,653,098 (GRCm39) probably null Het
Sphkap A T 1: 83,254,399 (GRCm39) F1117I probably damaging Het
Tas2r113 T C 6: 132,870,539 (GRCm39) I189T possibly damaging Het
Tescl T C 7: 24,033,247 (GRCm39) E26G possibly damaging Het
Trpm6 A T 19: 18,854,150 (GRCm39) I1847F probably damaging Het
Uba1y T A Y: 822,200 (GRCm39) C178S possibly damaging Het
Ush2a T A 1: 188,175,526 (GRCm39) V1208D possibly damaging Het
Usp13 G C 3: 32,949,000 (GRCm39) A446P probably damaging Het
Usp7 A T 16: 8,514,588 (GRCm39) C722S possibly damaging Het
Vmn1r52 A G 6: 90,156,535 (GRCm39) S280G probably benign Het
Vmn2r84 T C 10: 130,225,077 (GRCm39) K478E probably damaging Het
Zfp112 C A 7: 23,824,952 (GRCm39) L311I probably benign Het
Zfp180 G T 7: 23,805,125 (GRCm39) E515* probably null Het
Zfp518b A G 5: 38,829,671 (GRCm39) I778T probably damaging Het
Zfp800 A T 6: 28,243,662 (GRCm39) H434Q probably benign 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
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'- ACCCTGGATACCACAAGGAG -3'
(R):5'- GTAGCTAGCTTATGACCCCAGAAG -3'

Sequencing Primer
(F):5'- TGGATACCACAAGGAGCCTCTG -3'
(R):5'- CCAGAAGTCATTTCAGGGTTGCC -3'
Posted On 2019-06-26