Incidental Mutation 'R2877:Carmil2'
ID 260614
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 040465-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R2877 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106412906-106424819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106422055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1108 (E1108G)
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: E1108G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212687
Meta Mutation Damage Score 0.1069 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (66/69)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A C 5: 109,886,811 (GRCm39) probably benign Het
Abca13 C T 11: 9,241,889 (GRCm39) L1251F possibly damaging Het
Accsl A T 2: 93,689,755 (GRCm39) M384K probably damaging Het
Adss1 A C 12: 112,600,623 (GRCm39) K197N probably damaging Het
Alg11 A G 8: 22,555,374 (GRCm39) N170D possibly damaging Het
Ambn T C 5: 88,608,559 (GRCm39) probably benign Het
Anapc7 T C 5: 122,566,219 (GRCm39) Y43H probably benign Het
Anxa10 T A 8: 62,513,373 (GRCm39) I255F probably damaging Het
Atg2b A T 12: 105,630,268 (GRCm39) Y374* probably null Het
Axl T A 7: 25,465,949 (GRCm39) M563L probably damaging Het
Casp1 T C 9: 5,303,110 (GRCm39) M188T probably damaging Het
Chd3 A T 11: 69,251,998 (GRCm39) C87* probably null Het
Col6a3 G A 1: 90,703,321 (GRCm39) T2475I unknown Het
Creb3l4 A T 3: 90,149,615 (GRCm39) S83R probably damaging Het
Cyp2a4 G A 7: 26,011,612 (GRCm39) E278K possibly damaging Het
Dync1li2 A C 8: 105,156,047 (GRCm39) Y265D probably damaging Het
Eif3f G A 7: 108,534,019 (GRCm39) probably null Het
Eipr1 C T 12: 28,810,091 (GRCm39) T22I possibly damaging Het
Fbxo48 A G 11: 16,903,382 (GRCm39) K3E possibly damaging Het
Fbxw13 A G 9: 109,010,534 (GRCm39) F368S probably damaging Het
Fbxw19 A T 9: 109,315,038 (GRCm39) W175R probably damaging Het
Fibcd1 G A 2: 31,728,678 (GRCm39) P60S probably benign Het
Foxa3 A T 7: 18,748,805 (GRCm39) M107K probably benign Het
Foxj2 G A 6: 122,819,791 (GRCm39) D560N probably damaging Het
Gfm2 A G 13: 97,289,757 (GRCm39) R181G possibly damaging Het
Gpr25 C T 1: 136,188,553 (GRCm39) G20D possibly damaging Het
Grin1 A G 2: 25,187,641 (GRCm39) V594A probably damaging Het
Itpripl1 A G 2: 126,983,534 (GRCm39) V196A probably benign Het
Kcns1 A G 2: 164,006,682 (GRCm39) I427T probably damaging Het
Kiz T C 2: 146,731,476 (GRCm39) V322A possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Muc19 T A 15: 91,777,200 (GRCm39) noncoding transcript Het
Naa16 A G 14: 79,580,738 (GRCm39) M592T probably benign Het
Naa80 A T 9: 107,460,367 (GRCm39) E87D possibly damaging Het
Ncapd3 T A 9: 26,955,783 (GRCm39) probably null Het
Nebl C A 2: 17,439,740 (GRCm39) D178Y probably damaging Het
Nedd1 T A 10: 92,549,988 (GRCm39) N99I possibly damaging Het
Nuak1 T C 10: 84,211,209 (GRCm39) D293G possibly damaging Het
Or5b123 A T 19: 13,596,996 (GRCm39) I157F probably damaging Het
Or5m9b T C 2: 85,905,675 (GRCm39) M197T possibly damaging Het
Palb2 A G 7: 121,713,652 (GRCm39) V877A probably damaging Het
Rassf6 C T 5: 90,754,664 (GRCm39) V205I probably damaging Het
Rbak A G 5: 143,159,860 (GRCm39) Y398H probably damaging Het
Rcbtb1 A G 14: 59,448,041 (GRCm39) probably benign Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Smpdl3a C A 10: 57,685,181 (GRCm39) T317K probably damaging Het
Speer4e1 C T 5: 14,987,130 (GRCm39) V92M probably damaging Het
Syne2 A G 12: 76,047,605 (GRCm39) I4009V probably benign Het
Tarbp1 G A 8: 127,154,571 (GRCm39) L1474F probably damaging Het
Tchh A G 3: 93,351,535 (GRCm39) E325G unknown Het
Trpc4 T C 3: 54,198,761 (GRCm39) S562P probably damaging Het
Ttn T C 2: 76,567,409 (GRCm39) D27828G probably damaging Het
Ulk4 T C 9: 121,089,105 (GRCm39) D258G probably benign Het
Vmn1r215 A G 13: 23,260,731 (GRCm39) H257R probably benign Het
Vmn2r56 A C 7: 12,444,954 (GRCm39) M433R probably benign Het
Vmn2r76 C A 7: 85,875,201 (GRCm39) C592F probably benign Het
Zcchc8 C T 5: 123,838,766 (GRCm39) V591I probably benign Het
Znhit6 G C 3: 145,282,409 (GRCm39) G96A 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
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
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'- TGATGGTTATTCCTACAGCTGG -3'
(R):5'- TGCTCTCTGTTCCTGAGGAG -3'

Sequencing Primer
(F):5'- AGGATCCAGCCACTGAGG -3'
(R):5'- TGAGGAGCCTCAGCCCC -3'
Posted On 2015-01-23