Incidental Mutation 'R2160:Carmil2'
ID |
235114 |
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 |
040163-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R2160 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106412906-106424819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106423680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1218
(E1218G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042608]
[ENSMUST00000062574]
[ENSMUST00000093195]
[ENSMUST00000098444]
[ENSMUST00000211870]
[ENSMUST00000211888]
[ENSMUST00000213019]
[ENSMUST00000212642]
[ENSMUST00000212650]
[ENSMUST00000212352]
[ENSMUST00000212430]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042608
|
SMART Domains |
Protein: ENSMUSP00000048180 Gene: ENSMUSG00000038000
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: ENSMUST00000093195
|
SMART Domains |
Protein: ENSMUSP00000090886 Gene: ENSMUSG00000005699
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000213019
AA Change: E1218G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212642
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212650
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212687
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212972
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212643
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212352
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212430
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212634
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bpifb9b |
A |
G |
2: 154,161,595 (GRCm39) |
N576D |
possibly damaging |
Het |
Braf |
C |
T |
6: 39,639,007 (GRCm39) |
C248Y |
probably damaging |
Het |
Cntnap4 |
G |
T |
8: 113,484,203 (GRCm39) |
G419C |
probably damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Dnah9 |
C |
T |
11: 66,008,309 (GRCm39) |
D839N |
probably damaging |
Het |
Evc2 |
A |
G |
5: 37,537,862 (GRCm39) |
T517A |
possibly damaging |
Het |
Fbxw8 |
G |
A |
5: 118,263,053 (GRCm39) |
P209S |
probably damaging |
Het |
Gcm1 |
A |
G |
9: 77,968,662 (GRCm39) |
K121E |
probably benign |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Herc2 |
A |
G |
7: 55,862,670 (GRCm39) |
D4077G |
probably benign |
Het |
Inpp4b |
T |
A |
8: 82,848,004 (GRCm39) |
L937* |
probably null |
Het |
Ipcef1 |
A |
T |
10: 6,840,650 (GRCm39) |
I349N |
probably damaging |
Het |
Ipmk |
A |
G |
10: 71,217,256 (GRCm39) |
T267A |
probably benign |
Het |
Jph3 |
G |
T |
8: 122,479,970 (GRCm39) |
R216L |
possibly damaging |
Het |
Kctd16 |
A |
G |
18: 40,392,138 (GRCm39) |
E242G |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Krt76 |
A |
G |
15: 101,796,820 (GRCm39) |
Y360H |
probably damaging |
Het |
Lctl |
A |
G |
9: 64,025,049 (GRCm39) |
I12V |
probably benign |
Het |
Lrig3 |
T |
C |
10: 125,833,565 (GRCm39) |
V347A |
possibly damaging |
Het |
Lrrk2 |
C |
T |
15: 91,680,263 (GRCm39) |
S2058F |
probably damaging |
Het |
Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
Mon2 |
T |
A |
10: 122,911,834 (GRCm39) |
K12* |
probably null |
Het |
Nup58 |
A |
G |
14: 60,476,957 (GRCm39) |
V238A |
probably benign |
Het |
Pak5 |
T |
C |
2: 135,940,302 (GRCm39) |
D504G |
probably benign |
Het |
Pla2g4e |
T |
C |
2: 120,015,687 (GRCm39) |
S286G |
probably benign |
Het |
Ppfia4 |
A |
T |
1: 134,241,461 (GRCm39) |
V498D |
probably benign |
Het |
Ppfibp1 |
A |
G |
6: 146,928,951 (GRCm39) |
E846G |
probably damaging |
Het |
Ppp3ca |
G |
A |
3: 136,583,391 (GRCm39) |
C166Y |
probably damaging |
Het |
Prpf3 |
T |
C |
3: 95,752,542 (GRCm39) |
K244E |
probably benign |
Het |
Pzp |
A |
G |
6: 128,502,239 (GRCm39) |
S37P |
probably damaging |
Het |
Rab11fip3 |
G |
A |
17: 26,288,028 (GRCm39) |
H42Y |
probably benign |
Het |
Sprn |
C |
A |
7: 139,733,419 (GRCm39) |
|
probably benign |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Thap12 |
A |
G |
7: 98,359,333 (GRCm39) |
S71G |
probably damaging |
Het |
Vmn1r7 |
A |
G |
6: 57,001,879 (GRCm39) |
F127S |
probably damaging |
Het |
Vmn2r54 |
C |
T |
7: 12,349,420 (GRCm39) |
V721I |
probably benign |
Het |
Vmn2r56 |
A |
G |
7: 12,428,146 (GRCm39) |
F707L |
probably benign |
Het |
Zfp976 |
C |
T |
7: 42,263,354 (GRCm39) |
S161N |
probably benign |
Het |
|
Other mutations in Carmil2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
R9753:Carmil2
|
UTSW |
8 |
106,417,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCAAGAAGGCAGGCTCTG -3'
(R):5'- AATGTCTTCCAGGTGGCAGAC -3'
Sequencing Primer
(F):5'- TCTGATGGTGAGTAGGACCCC -3'
(R):5'- CAGGTCTGCATGAGGGATC -3'
|
Posted On |
2014-10-01 |