Incidental Mutation 'R7674:Carmil2'
ID 592380
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 045744-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R7674 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106412906-106424819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106423918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 1257 (Q1257L)
Ref Sequence ENSEMBL: ENSMUSP00000148422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042608] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000211888] [ENSMUST00000212352] [ENSMUST00000213019] [ENSMUST00000212430] [ENSMUST00000212642] [ENSMUST00000212650]
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: ENSMUST00000093195
SMART Domains Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699

DomainStartEndE-ValueType
PB1 15 95 2.81e-15 SMART
PDZ 167 250 1.38e-12 SMART
low complexity region 263 286 N/A INTRINSIC
low complexity region 309 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098444
SMART Domains Protein: ENSMUSP00000096043
Gene: ENSMUSG00000005699

DomainStartEndE-ValueType
PB1 4 79 1.28e-9 SMART
PDZ 151 234 1.38e-12 SMART
low complexity region 247 270 N/A INTRINSIC
low complexity region 293 307 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211870
Predicted Effect probably benign
Transcript: ENSMUST00000211888
Predicted Effect probably benign
Transcript: ENSMUST00000212352
Predicted Effect possibly damaging
Transcript: ENSMUST00000213019
AA Change: Q1257L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000212430
Predicted Effect probably benign
Transcript: ENSMUST00000212642
Predicted Effect probably benign
Transcript: ENSMUST00000212650
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (58/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,110,123 (GRCm39) I607F probably damaging Het
Abcc4 A T 14: 118,848,899 (GRCm39) D559E probably damaging Het
Abl1 T C 2: 31,579,841 (GRCm39) V8A possibly damaging Het
Alkal1 A T 1: 6,459,712 (GRCm39) Y96F probably damaging Het
Asb3 T A 11: 31,031,435 (GRCm39) C352S possibly damaging Het
B4galnt3 G T 6: 120,192,166 (GRCm39) D523E probably benign Het
Cadps C A 14: 12,411,581 (GRCm38) E1258D probably damaging Het
Cars1 A G 7: 143,140,840 (GRCm39) probably null Het
Ccdc88c G T 12: 100,911,491 (GRCm39) A781E probably benign Het
Ccr10 A T 11: 101,065,475 (GRCm39) D18E probably benign Het
Cdcp1 C A 9: 123,045,071 (GRCm39) probably benign Het
Ces5a C A 8: 94,240,897 (GRCm39) R400L probably damaging Het
Clcn6 C T 4: 148,097,151 (GRCm39) V636M probably damaging Het
Cluh T A 11: 74,558,546 (GRCm39) L1206H probably damaging Het
Cog2 C A 8: 125,264,621 (GRCm39) N333K probably damaging Het
Dnah14 A T 1: 181,535,098 (GRCm39) I2355L probably benign Het
Dok4 T C 8: 95,593,190 (GRCm39) Y165C probably damaging Het
Dpy19l3 A C 7: 35,394,734 (GRCm39) D601E probably damaging Het
Egr3 G A 14: 70,315,526 (GRCm39) probably null Het
Elapor1 T G 3: 108,370,307 (GRCm39) R698S probably damaging Het
Elp1 T C 4: 56,792,075 (GRCm39) Q231R probably damaging Het
Evpl T C 11: 116,113,394 (GRCm39) K1432R probably benign Het
Fbxw8 A T 5: 118,263,036 (GRCm39) C214* probably null Het
Gm45861 A C 8: 28,030,147 (GRCm39) Y821S unknown Het
Gm5519 G C 19: 33,802,428 (GRCm39) G157A probably benign Het
Gys1 T C 7: 45,104,495 (GRCm39) S641P probably damaging Het
Ighv6-6 T A 12: 114,398,837 (GRCm39) I10L probably benign Het
Jmy C T 13: 93,579,107 (GRCm39) R675Q probably damaging Het
Kif14 C T 1: 136,396,558 (GRCm39) T288I probably damaging Het
Kpna3 A T 14: 61,605,086 (GRCm39) N520K probably benign Het
Lonp2 A T 8: 87,392,386 (GRCm39) Q484L probably benign Het
Lrp1b T A 2: 42,542,921 (GRCm39) probably benign Het
Mpeg1 A T 19: 12,438,751 (GRCm39) M70L probably benign Het
Msh3 C A 13: 92,349,011 (GRCm39) V1074L probably benign Het
Muc6 A T 7: 141,224,247 (GRCm39) L1645Q unknown Het
Nipbl C T 15: 8,322,585 (GRCm39) V2609I probably benign Het
Nucks1 C A 1: 131,858,844 (GRCm39) T202N probably benign Het
Or10al3 A G 17: 38,011,573 (GRCm39) N4S probably benign Het
Or4c127 A T 2: 89,833,389 (GRCm39) Y213F probably damaging Het
Or4e2 A G 14: 52,687,899 (GRCm39) T10A probably benign Het
Or5m12 A C 2: 85,734,880 (GRCm39) F173V probably damaging Het
Or8b12i A G 9: 20,082,549 (GRCm39) L106P possibly damaging Het
Plekha2 A G 8: 25,547,314 (GRCm39) S257P probably damaging Het
Pnlip G C 19: 58,663,586 (GRCm39) G187A possibly damaging Het
Pramel22 T A 4: 143,382,175 (GRCm39) K174* probably null Het
Rasgrf2 C T 13: 92,267,914 (GRCm39) S30N possibly damaging Het
Rho G T 6: 115,909,294 (GRCm39) C110F probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc2a12 A G 10: 22,569,893 (GRCm39) D528G probably damaging Het
Sorcs2 G A 5: 36,555,296 (GRCm39) R32C probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Srp72 A T 5: 77,122,673 (GRCm39) N35Y probably damaging Het
Tm2d2 C A 8: 25,508,280 (GRCm39) Y141* probably null Het
Tor3a G A 1: 156,483,478 (GRCm39) H315Y possibly damaging Het
Usp17la A T 7: 104,510,654 (GRCm39) K420* probably null Het
Vmn2r26 T C 6: 124,016,321 (GRCm39) W262R probably benign Het
Yipf7 A T 5: 69,676,572 (GRCm39) V189D probably damaging Het
Zan T A 5: 137,465,370 (GRCm39) M462L possibly damaging Het
Zc3h18 AGG AG 8: 123,110,295 (GRCm39) probably null Het
Zfp930 A T 8: 69,681,337 (GRCm39) H344L 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
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'- ATCAAGTCCCGTACCCACTCTG -3'
(R):5'- TTTGGCCTTCCCAGATGAGTC -3'

Sequencing Primer
(F):5'- TGAGGGCCACTGGATATGTTAAAG -3'
(R):5'- TCCCAGATGAGTCGGGTTCCTAG -3'
Posted On 2019-11-12