Incidental Mutation 'IGL02900:Carmil2'
ID |
363560 |
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 # |
IGL02900
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
106412906-106424819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106422151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 1140
(I1140N)
|
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
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: 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: I1140N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212687
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
G |
T |
11: 99,728,774 (GRCm39) |
T23N |
possibly damaging |
Het |
Angpt4 |
T |
A |
2: 151,753,391 (GRCm39) |
V47E |
probably damaging |
Het |
Arhgef11 |
G |
A |
3: 87,640,467 (GRCm39) |
R1208Q |
probably benign |
Het |
Calb1 |
T |
C |
4: 15,895,695 (GRCm39) |
|
probably benign |
Het |
Capn11 |
G |
T |
17: 45,941,540 (GRCm39) |
|
probably null |
Het |
Cnn3 |
A |
T |
3: 121,245,143 (GRCm39) |
T23S |
probably benign |
Het |
Colgalt2 |
C |
T |
1: 152,384,481 (GRCm39) |
T607M |
probably damaging |
Het |
Cyp46a1 |
T |
G |
12: 108,309,350 (GRCm39) |
V93G |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,227,344 (GRCm39) |
Y261C |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,878,886 (GRCm39) |
Y2715C |
probably damaging |
Het |
Dsg1a |
G |
T |
18: 20,461,713 (GRCm39) |
|
probably benign |
Het |
Eml4 |
C |
T |
17: 83,785,421 (GRCm39) |
P862L |
probably benign |
Het |
Gm5414 |
T |
C |
15: 101,536,242 (GRCm39) |
T128A |
probably damaging |
Het |
Gp9 |
G |
T |
6: 87,756,415 (GRCm39) |
W143C |
probably damaging |
Het |
Hipk2 |
T |
C |
6: 38,706,879 (GRCm39) |
I670V |
probably damaging |
Het |
Hoxa10 |
T |
C |
6: 52,209,541 (GRCm39) |
K77R |
possibly damaging |
Het |
Kcna1 |
T |
G |
6: 126,620,057 (GRCm39) |
S88R |
probably damaging |
Het |
Kif1b |
A |
T |
4: 149,265,266 (GRCm39) |
S1758T |
possibly damaging |
Het |
Klk1b11 |
A |
G |
7: 43,427,837 (GRCm39) |
T182A |
probably damaging |
Het |
Lrp1 |
G |
A |
10: 127,412,516 (GRCm39) |
|
probably benign |
Het |
Magi1 |
A |
G |
6: 93,663,854 (GRCm39) |
S991P |
probably damaging |
Het |
Mast4 |
T |
A |
13: 102,872,184 (GRCm39) |
T2203S |
probably benign |
Het |
Mxra8 |
A |
G |
4: 155,925,576 (GRCm39) |
E95G |
possibly damaging |
Het |
Mxra8 |
A |
G |
4: 155,925,668 (GRCm39) |
|
probably null |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Or14j9 |
A |
G |
17: 37,874,740 (GRCm39) |
I154T |
possibly damaging |
Het |
Or2f2 |
T |
A |
6: 42,767,808 (GRCm39) |
Y278* |
probably null |
Het |
Or8g2b |
T |
A |
9: 39,751,108 (GRCm39) |
I126N |
probably damaging |
Het |
Or8g4 |
A |
T |
9: 39,661,901 (GRCm39) |
H73L |
probably benign |
Het |
Pbx4 |
A |
G |
8: 70,319,216 (GRCm39) |
E249G |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,750,830 (GRCm39) |
E1727G |
probably benign |
Het |
Plec |
T |
G |
15: 76,070,414 (GRCm39) |
D932A |
probably damaging |
Het |
Pramel22 |
A |
T |
4: 143,382,085 (GRCm39) |
F204I |
possibly damaging |
Het |
Raph1 |
T |
C |
1: 60,542,022 (GRCm39) |
D364G |
probably damaging |
Het |
Rps29 |
T |
A |
12: 69,205,825 (GRCm39) |
H3L |
probably damaging |
Het |
Sema4c |
A |
T |
1: 36,589,826 (GRCm39) |
C509* |
probably null |
Het |
Srgap2 |
A |
T |
1: 131,339,534 (GRCm39) |
|
probably benign |
Het |
Stam2 |
A |
T |
2: 52,598,209 (GRCm39) |
D243E |
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,497,861 (GRCm39) |
L146P |
probably benign |
Het |
Teddm3 |
G |
T |
16: 20,971,900 (GRCm39) |
T223K |
probably benign |
Het |
Tfap2d |
A |
T |
1: 19,189,474 (GRCm39) |
N285Y |
probably damaging |
Het |
Tmprss3 |
T |
A |
17: 31,403,553 (GRCm39) |
D416V |
probably damaging |
Het |
Vmn1r71 |
T |
A |
7: 10,482,601 (GRCm39) |
Y29F |
probably benign |
Het |
Vmn2r84 |
T |
C |
10: 130,223,861 (GRCm39) |
|
probably benign |
Het |
Washc2 |
G |
T |
6: 116,204,435 (GRCm39) |
D362Y |
probably damaging |
Het |
Wbp2nl |
T |
C |
15: 82,198,035 (GRCm39) |
S191P |
probably benign |
Het |
Zfp608 |
T |
C |
18: 55,079,865 (GRCm39) |
T307A |
probably damaging |
Het |
Zfp970 |
T |
C |
2: 177,166,610 (GRCm39) |
|
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 |
|
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 |
R9753:Carmil2
|
UTSW |
8 |
106,417,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |