Incidental Mutation 'R8526:Carmil2'
ID |
658810 |
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 |
067951-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R8526 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
106412906-106424819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 106415447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 265
(A265V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000213019]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213019
AA Change: A265V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (42/42) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,417,935 (GRCm39) |
C706* |
probably null |
Het |
4930522L14Rik |
T |
C |
5: 109,885,655 (GRCm39) |
I68V |
possibly damaging |
Het |
4931422A03Rik |
G |
A |
2: 103,856,499 (GRCm39) |
R21C |
unknown |
Het |
Actr5 |
T |
G |
2: 158,474,224 (GRCm39) |
F342L |
probably damaging |
Het |
Adamts13 |
T |
C |
2: 26,868,012 (GRCm39) |
V124A |
probably benign |
Het |
Amotl1 |
T |
C |
9: 14,473,492 (GRCm39) |
E606G |
probably damaging |
Het |
Cdh22 |
T |
C |
2: 164,954,178 (GRCm39) |
E781G |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 138,950,858 (GRCm39) |
W33* |
probably null |
Het |
Dlc1 |
C |
T |
8: 37,404,968 (GRCm39) |
V274I |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Ect2l |
C |
T |
10: 18,020,375 (GRCm39) |
E582K |
probably benign |
Het |
Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
Ift88 |
A |
T |
14: 57,683,126 (GRCm39) |
K40* |
probably null |
Het |
Igkv4-72 |
A |
G |
6: 69,204,140 (GRCm39) |
V17A |
probably benign |
Het |
Klhl28 |
T |
G |
12: 64,998,400 (GRCm39) |
T365P |
probably damaging |
Het |
Krt16 |
T |
A |
11: 100,137,309 (GRCm39) |
Y434F |
probably benign |
Het |
Lyst |
T |
A |
13: 13,935,391 (GRCm39) |
V3620E |
probably damaging |
Het |
Mcm9 |
A |
T |
10: 53,506,221 (GRCm39) |
|
probably benign |
Het |
Mef2a |
T |
C |
7: 66,901,473 (GRCm39) |
M100V |
possibly damaging |
Het |
Mos |
T |
C |
4: 3,871,709 (GRCm39) |
K36E |
probably damaging |
Het |
Ncapg2 |
T |
C |
12: 116,403,679 (GRCm39) |
Y864H |
probably benign |
Het |
Or1o2 |
A |
G |
17: 37,542,470 (GRCm39) |
S264P |
probably damaging |
Het |
Or4k2 |
C |
T |
14: 50,423,719 (GRCm39) |
|
probably null |
Het |
Parp14 |
A |
T |
16: 35,661,307 (GRCm39) |
I1547N |
possibly damaging |
Het |
Pcdh18 |
A |
T |
3: 49,710,023 (GRCm39) |
Y431N |
probably damaging |
Het |
Phyhd1 |
T |
C |
2: 30,156,955 (GRCm39) |
|
probably null |
Het |
Pkd2 |
T |
C |
5: 104,637,102 (GRCm39) |
F572L |
probably damaging |
Het |
Rasgrf1 |
T |
A |
9: 89,856,901 (GRCm39) |
I453N |
probably damaging |
Het |
Robo4 |
T |
A |
9: 37,314,801 (GRCm39) |
C218* |
probably null |
Het |
Rrbp1 |
A |
G |
2: 143,816,403 (GRCm39) |
V742A |
probably benign |
Het |
Serpinb3a |
A |
T |
1: 106,976,504 (GRCm39) |
|
probably null |
Het |
Sgsm2 |
T |
G |
11: 74,759,847 (GRCm39) |
E97A |
probably benign |
Het |
Smad4 |
A |
T |
18: 73,790,330 (GRCm39) |
|
probably null |
Het |
Snd1 |
T |
C |
6: 28,745,253 (GRCm39) |
Y533H |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Stk36 |
A |
G |
1: 74,673,703 (GRCm39) |
T1199A |
probably benign |
Het |
Veph1 |
T |
A |
3: 66,066,737 (GRCm39) |
N417I |
probably benign |
Het |
Vmn1r8 |
A |
G |
6: 57,013,362 (GRCm39) |
S138G |
probably benign |
Het |
Vmn2r10 |
C |
T |
5: 109,145,572 (GRCm39) |
V512I |
possibly damaging |
Het |
Zfp740 |
A |
G |
15: 102,116,726 (GRCm39) |
D47G |
probably null |
Het |
Zfp810 |
T |
C |
9: 22,189,586 (GRCm39) |
K441E |
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 |
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 |
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'- ATGAGTCACGACCCTCTTGC -3'
(R):5'- ACAATGCTCTAGGTGTCTGCTG -3'
Sequencing Primer
(F):5'- CCTGGAGGTCTCAGAACAGATTC -3'
(R):5'- TGAGTGCAGCCATACCTGTG -3'
|
Posted On |
2021-01-18 |