Incidental Mutation 'R9753:Carmil2'
ID 732634
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R9753 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 106412906-106424819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106417539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 599 (N599S)
Ref Sequence ENSEMBL: ENSMUSP00000148422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000211870] [ENSMUST00000213019]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000211870
Predicted Effect probably damaging
Transcript: ENSMUST00000213019
AA Change: N599S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.3%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak9 G A 10: 41,259,496 (GRCm39) V843I Het
Bbs12 T C 3: 37,373,680 (GRCm39) C43R possibly damaging Het
Brwd1 T C 16: 95,825,028 (GRCm39) E1145G probably damaging Het
C2cd4c A C 10: 79,448,067 (GRCm39) I360S probably damaging Het
Cd79b A G 11: 106,203,457 (GRCm39) probably null Het
Ces2c A G 8: 105,580,249 (GRCm39) M489V probably benign Het
Clip4 A G 17: 72,106,068 (GRCm39) N84D probably benign Het
Cramp1 T C 17: 25,191,320 (GRCm39) D1047G possibly damaging Het
Cyp2c69 C T 19: 39,865,991 (GRCm39) V201M probably benign Het
Dock2 A G 11: 34,223,673 (GRCm39) S1154P possibly damaging Het
Elk4 T G 1: 131,945,881 (GRCm39) V253G probably benign Het
Erbb4 T A 1: 68,238,062 (GRCm39) H809L probably benign Het
Ext1 A T 15: 53,208,067 (GRCm39) D231E probably damaging Het
Fam221b T C 4: 43,665,574 (GRCm39) K295E probably benign Het
Fbrsl1 A G 5: 110,526,835 (GRCm39) F2L unknown Het
Fnip2 C T 3: 79,415,411 (GRCm39) R209H probably benign Het
Gart C T 16: 91,430,949 (GRCm39) G371D probably damaging Het
Gata6 T A 18: 11,064,706 (GRCm39) V506D possibly damaging Het
Gba2 T C 4: 43,568,716 (GRCm39) Y620C probably damaging Het
Gprc6a T C 10: 51,504,364 (GRCm39) N160S probably benign Het
Gstm3 A G 3: 107,875,493 (GRCm39) W46R probably damaging Het
Hcn4 G A 9: 58,751,319 (GRCm39) R315H unknown Het
Hydin T C 8: 111,217,398 (GRCm39) F1429L possibly damaging Het
Iqgap3 C A 3: 88,016,176 (GRCm39) F986L probably damaging Het
Itgb1bp1 A G 12: 21,326,890 (GRCm39) S28P unknown Het
Krt10 A G 11: 99,279,792 (GRCm39) F123L unknown Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Lingo4 C T 3: 94,309,493 (GRCm39) R144* probably null Het
Ltbr G A 6: 125,284,348 (GRCm39) R365W probably damaging Het
Nrsn1 C A 13: 25,437,563 (GRCm39) V122L probably benign Het
Or10h5 C A 17: 33,434,688 (GRCm39) G210V possibly damaging Het
Or2r2 T C 6: 42,463,507 (GRCm39) M207V probably benign Het
Or4d6 T A 19: 12,086,056 (GRCm39) M59L probably benign Het
Pcgf6 T C 19: 47,023,073 (GRCm39) T353A probably damaging Het
Pcsk2 T C 2: 143,635,150 (GRCm39) Y342H probably damaging Het
Pou2af1 A T 9: 51,149,636 (GRCm39) N243Y possibly damaging Het
Prkcz T C 4: 155,377,659 (GRCm39) D197G probably benign Het
Sec14l4 G A 11: 3,989,982 (GRCm39) E94K probably benign Het
Sik2 T C 9: 50,807,139 (GRCm39) E757G probably damaging Het
Sipa1l1 T A 12: 82,463,763 (GRCm39) S1154T possibly damaging Het
Speer1k A T 5: 10,999,020 (GRCm39) T53S Het
Ssb T C 2: 69,697,865 (GRCm39) Y175H probably damaging Het
St6galnac6 T C 2: 32,502,261 (GRCm39) I50T probably benign Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Tmcc1 G C 6: 115,999,071 (GRCm39) R323G possibly damaging Het
Unc13b C T 4: 43,182,842 (GRCm39) R396* probably null Het
Vezt A G 10: 93,806,183 (GRCm39) S743P probably benign Het
Vmn1r77 A C 7: 11,775,659 (GRCm39) N145T probably damaging Het
Vmn2r98 A C 17: 19,285,665 (GRCm39) T162P 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
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
Predicted Primers PCR Primer
(F):5'- AGCCCATGTATCCATCAGTG -3'
(R):5'- ATGTGTTGTTCCGGTCCCAG -3'

Sequencing Primer
(F):5'- ATGTATCCATCAGTGCCTTCC -3'
(R):5'- TGTTCCGGTCCCAGATCACAG -3'
Posted On 2022-11-14