Incidental Mutation 'IGL03242:Carmil2'
| ID |
414909 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Carmil2
|
| Ensembl Gene |
ENSMUSG00000050357 |
| Gene Name |
capping protein regulator and myosin 1 linker 2 |
| Synonyms |
Rltpr, D130029J02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL03242
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106412906-106424819 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 106417952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062574]
[ENSMUST00000211870]
[ENSMUST00000213019]
|
| AlphaFold |
no structure available at present |
| 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: ENSMUST00000211870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212643
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213019
|
| Coding Region Coverage |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,189 (GRCm39) |
W221R |
unknown |
Het |
| Ank2 |
A |
G |
3: 126,722,454 (GRCm39) |
F1000L |
possibly damaging |
Het |
| Aoc1l2 |
T |
C |
6: 48,909,479 (GRCm39) |
F575L |
possibly damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,159,126 (GRCm39) |
|
probably benign |
Het |
| BC024139 |
T |
C |
15: 76,004,520 (GRCm39) |
M679V |
probably benign |
Het |
| Catsperg2 |
A |
G |
7: 29,424,904 (GRCm39) |
|
probably benign |
Het |
| Chrnb4 |
A |
T |
9: 54,942,812 (GRCm39) |
I154K |
probably damaging |
Het |
| Clec2e |
A |
C |
6: 129,071,989 (GRCm39) |
L130W |
probably damaging |
Het |
| Coro2b |
G |
T |
9: 62,336,243 (GRCm39) |
Y281* |
probably null |
Het |
| Dlk2 |
A |
G |
17: 46,613,903 (GRCm39) |
Y386C |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,659,882 (GRCm39) |
F709I |
probably benign |
Het |
| Efcab3 |
A |
C |
11: 104,997,230 (GRCm39) |
E140A |
probably damaging |
Het |
| Exoc1 |
T |
C |
5: 76,706,854 (GRCm39) |
L467P |
probably damaging |
Het |
| Fkbp2 |
A |
G |
19: 6,955,980 (GRCm39) |
V75A |
probably benign |
Het |
| Glud1 |
T |
C |
14: 34,056,237 (GRCm39) |
F304L |
probably benign |
Het |
| Gsr |
T |
A |
8: 34,175,627 (GRCm39) |
V291E |
probably benign |
Het |
| Itprid2 |
C |
T |
2: 79,473,815 (GRCm39) |
R189* |
probably null |
Het |
| Kap |
A |
G |
6: 133,828,763 (GRCm39) |
|
probably benign |
Het |
| Kmt2a |
G |
T |
9: 44,759,689 (GRCm39) |
T720N |
probably damaging |
Het |
| Lrrtm4 |
T |
C |
6: 79,999,071 (GRCm39) |
I161T |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,831,466 (GRCm39) |
L1630* |
probably null |
Het |
| Med13l |
A |
G |
5: 118,885,510 (GRCm39) |
S1488G |
probably benign |
Het |
| Mlxip |
A |
G |
5: 123,578,124 (GRCm39) |
K147E |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,558,899 (GRCm39) |
E810G |
possibly damaging |
Het |
| Or2d4 |
A |
G |
7: 106,544,125 (GRCm39) |
F28L |
possibly damaging |
Het |
| Or56a5 |
G |
A |
7: 104,793,473 (GRCm39) |
S15F |
probably benign |
Het |
| Or5p54 |
T |
C |
7: 107,554,688 (GRCm39) |
V280A |
possibly damaging |
Het |
| Pcare |
A |
G |
17: 72,057,266 (GRCm39) |
S804P |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,144,609 (GRCm39) |
|
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Serpina3j |
G |
A |
12: 104,285,960 (GRCm39) |
A372T |
possibly damaging |
Het |
| Slc28a3 |
G |
A |
13: 58,722,063 (GRCm39) |
Q274* |
probably null |
Het |
| Stk36 |
T |
C |
1: 74,662,511 (GRCm39) |
F543S |
possibly damaging |
Het |
| Tfrc |
T |
C |
16: 32,448,930 (GRCm39) |
S690P |
probably damaging |
Het |
| Tg |
C |
A |
15: 66,555,647 (GRCm39) |
Q780K |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,557,653 (GRCm39) |
H578Q |
probably damaging |
Het |
| Treh |
A |
G |
9: 44,596,634 (GRCm39) |
T463A |
possibly damaging |
Het |
| Treml1 |
G |
A |
17: 48,673,016 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,753,568 (GRCm39) |
V1312A |
probably benign |
Het |
| Ttc41 |
T |
A |
10: 86,612,683 (GRCm39) |
*1319K |
probably null |
Het |
| Tulp2 |
A |
G |
7: 45,171,282 (GRCm39) |
I354M |
probably damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,155,254 (GRCm39) |
L363P |
probably damaging |
Het |
| Usp13 |
A |
T |
3: 32,956,218 (GRCm39) |
M496L |
probably benign |
Het |
| Virma |
T |
C |
4: 11,527,669 (GRCm39) |
S1187P |
possibly damaging |
Het |
| Wdr76 |
T |
A |
2: 121,372,951 (GRCm39) |
C593S |
probably damaging |
Het |
| Zfp446 |
G |
A |
7: 12,713,252 (GRCm39) |
A97T |
probably damaging |
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 |
|
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 |
|
R9753:Carmil2
|
UTSW |
8 |
106,417,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation