Incidental Mutation 'R8927:Carmil2'
ID |
679605 |
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 |
068771-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R8927 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106412906-106424819 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to G
at 106415130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 214
(Y214*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000213019]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000213019
AA Change: Y214*
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
G |
A |
9: 57,165,805 (GRCm39) |
R190* |
probably null |
Het |
Aldh7a1 |
A |
T |
18: 56,660,060 (GRCm39) |
S529T |
probably benign |
Het |
Ccdc136 |
A |
G |
6: 29,406,109 (GRCm39) |
I152V |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,932,676 (GRCm39) |
D285G |
possibly damaging |
Het |
Clec4a3 |
T |
A |
6: 122,946,328 (GRCm39) |
F191I |
probably damaging |
Het |
Dennd6b |
AGCTGGGGTCCCGC |
AGC |
15: 89,069,780 (GRCm39) |
|
probably null |
Het |
Dlg5 |
A |
T |
14: 24,206,547 (GRCm39) |
S1222T |
|
Het |
Dnaaf9 |
T |
A |
2: 130,579,300 (GRCm39) |
R777* |
probably null |
Het |
Dnah14 |
T |
G |
1: 181,508,321 (GRCm39) |
L1833W |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,725,535 (GRCm39) |
W549R |
probably damaging |
Het |
Ezh2 |
A |
T |
6: 47,510,713 (GRCm39) |
V632E |
possibly damaging |
Het |
Fam83a |
G |
A |
15: 57,873,313 (GRCm39) |
V381M |
probably benign |
Het |
Fmo2 |
T |
C |
1: 162,704,398 (GRCm39) |
T503A |
probably benign |
Het |
Foxo1 |
T |
C |
3: 52,252,703 (GRCm39) |
F289L |
probably damaging |
Het |
Gckr |
A |
G |
5: 31,456,903 (GRCm39) |
E96G |
probably damaging |
Het |
Gm18596 |
G |
A |
10: 77,578,162 (GRCm39) |
A104V |
unknown |
Het |
Gm21680 |
A |
T |
5: 26,176,347 (GRCm39) |
N83K |
probably damaging |
Het |
Gnb5 |
T |
C |
9: 75,252,236 (GRCm39) |
V393A |
possibly damaging |
Het |
Grin2b |
T |
G |
6: 135,749,339 (GRCm39) |
Q621P |
probably damaging |
Het |
Gtsf2 |
T |
C |
15: 103,352,783 (GRCm39) |
I79V |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,105,055 (GRCm39) |
I1040V |
probably benign |
Het |
Kif2b |
C |
T |
11: 91,468,023 (GRCm39) |
E87K |
probably benign |
Het |
Klk1b8 |
G |
A |
7: 43,604,206 (GRCm39) |
G225S |
probably damaging |
Het |
L3mbtl3 |
A |
T |
10: 26,220,084 (GRCm39) |
C94S |
unknown |
Het |
Man2c1 |
T |
G |
9: 57,048,456 (GRCm39) |
Y872* |
probably null |
Het |
Mical3 |
T |
A |
6: 120,984,325 (GRCm39) |
M832L |
probably benign |
Het |
Mrc2 |
A |
G |
11: 105,216,334 (GRCm39) |
D41G |
probably benign |
Het |
Nedd1 |
T |
A |
10: 92,558,258 (GRCm39) |
|
probably benign |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Notch3 |
C |
T |
17: 32,372,792 (GRCm39) |
R593Q |
probably benign |
Het |
Nxpe3 |
T |
G |
16: 55,669,997 (GRCm39) |
E369D |
possibly damaging |
Het |
Obscn |
T |
A |
11: 58,977,695 (GRCm39) |
T1802S |
possibly damaging |
Het |
Or1e33 |
A |
T |
11: 73,738,406 (GRCm39) |
F182I |
probably benign |
Het |
Or2a7 |
T |
C |
6: 43,151,669 (GRCm39) |
F250L |
probably benign |
Het |
Or4k51 |
A |
T |
2: 111,585,107 (GRCm39) |
H171L |
probably benign |
Het |
Or9s14 |
A |
G |
1: 92,536,438 (GRCm39) |
N293S |
probably damaging |
Het |
Oscar |
A |
C |
7: 3,614,747 (GRCm39) |
V75G |
probably benign |
Het |
Pcdhb17 |
G |
A |
18: 37,620,372 (GRCm39) |
A721T |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,614,659 (GRCm39) |
Y264C |
probably benign |
Het |
Pear1 |
G |
T |
3: 87,661,890 (GRCm39) |
A495D |
probably damaging |
Het |
Plekhf1 |
C |
A |
7: 37,920,998 (GRCm39) |
R190L |
probably damaging |
Het |
Plppr5 |
T |
C |
3: 117,369,532 (GRCm39) |
V63A |
probably benign |
Het |
Pyroxd1 |
T |
A |
6: 142,300,437 (GRCm39) |
F189Y |
probably damaging |
Het |
Rab13 |
C |
T |
3: 90,128,120 (GRCm39) |
|
probably benign |
Het |
Rptor |
C |
T |
11: 119,782,036 (GRCm39) |
T1121I |
probably benign |
Het |
Scgb2b7 |
T |
C |
7: 31,404,602 (GRCm39) |
S33G |
probably benign |
Het |
Slc25a36 |
A |
G |
9: 96,982,126 (GRCm39) |
|
probably null |
Het |
Smtn |
T |
A |
11: 3,479,477 (GRCm39) |
H530L |
possibly damaging |
Het |
Srrt |
C |
T |
5: 137,297,070 (GRCm39) |
C411Y |
probably benign |
Het |
Stag1 |
C |
A |
9: 100,587,298 (GRCm39) |
P7Q |
possibly damaging |
Het |
Tarm1 |
G |
A |
7: 3,537,719 (GRCm39) |
T248I |
possibly damaging |
Het |
Tektl1 |
T |
C |
10: 78,588,258 (GRCm39) |
Y184C |
probably damaging |
Het |
Trim6 |
C |
T |
7: 103,881,655 (GRCm39) |
A328V |
probably benign |
Het |
Vmn1r189 |
T |
C |
13: 22,286,811 (GRCm39) |
I9V |
probably benign |
Het |
Vmn2r93 |
A |
G |
17: 18,546,500 (GRCm39) |
T791A |
probably damaging |
Het |
Vsig10l |
A |
G |
7: 43,116,020 (GRCm39) |
T454A |
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 |
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 |
|
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'- GGACACTATCTACCATCGCCAG -3'
(R):5'- AGATTGACTCGTCATGTGCAG -3'
Sequencing Primer
(F):5'- GCCTTGGAGATTTCAGCCAC -3'
(R):5'- AGAATCTGTTCTGAGACCTCCAGG -3'
|
Posted On |
2021-08-02 |