Incidental Mutation 'R9003:Carmil2'
ID |
685094 |
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 |
068833-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R9003 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
106412906-106424819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106423905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1253
(T1253A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042608]
[ENSMUST00000093195]
[ENSMUST00000098444]
[ENSMUST00000211870]
[ENSMUST00000211888]
[ENSMUST00000212352]
[ENSMUST00000213019]
[ENSMUST00000212430]
[ENSMUST00000212642]
[ENSMUST00000212650]
|
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 |
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 |
probably benign
Transcript: ENSMUST00000212352
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213019
AA Change: T1253A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212430
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212642
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212650
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (57/57) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
G |
A |
12: 118,850,013 (GRCm39) |
H917Y |
possibly damaging |
Het |
Acot4 |
A |
G |
12: 84,089,969 (GRCm39) |
K222R |
possibly damaging |
Het |
Akap12 |
A |
G |
10: 4,306,744 (GRCm39) |
S1290G |
probably benign |
Het |
Arid1a |
T |
C |
4: 133,411,799 (GRCm39) |
I1311V |
unknown |
Het |
Asf1b |
G |
T |
8: 84,682,530 (GRCm39) |
E25* |
probably null |
Het |
Atp10a |
T |
A |
7: 58,457,203 (GRCm39) |
W901R |
probably damaging |
Het |
Aurkc |
T |
A |
7: 6,999,547 (GRCm39) |
I18N |
probably damaging |
Het |
Ccdc146 |
T |
C |
5: 21,508,132 (GRCm39) |
T639A |
possibly damaging |
Het |
Cdca4 |
A |
G |
12: 112,785,659 (GRCm39) |
V23A |
probably benign |
Het |
Chpt1 |
A |
G |
10: 88,312,943 (GRCm39) |
F290L |
probably damaging |
Het |
Clca3b |
C |
T |
3: 144,533,072 (GRCm39) |
W653* |
probably null |
Het |
Coa8 |
A |
G |
12: 111,688,189 (GRCm39) |
*45W |
probably null |
Het |
Cpb2 |
A |
T |
14: 75,479,868 (GRCm39) |
|
probably benign |
Het |
Cul9 |
A |
G |
17: 46,836,001 (GRCm39) |
V1215A |
possibly damaging |
Het |
Cxxc4 |
A |
T |
3: 133,945,431 (GRCm39) |
N4I |
unknown |
Het |
Eps8l1 |
G |
T |
7: 4,464,016 (GRCm39) |
V47F |
possibly damaging |
Het |
Exoc6 |
T |
C |
19: 37,587,097 (GRCm39) |
I537T |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,176,591 (GRCm39) |
Y2040C |
probably damaging |
Het |
Gfm2 |
T |
G |
13: 97,282,889 (GRCm39) |
|
probably benign |
Het |
Jak2 |
A |
T |
19: 29,254,240 (GRCm39) |
M187L |
probably benign |
Het |
Kif5b |
A |
G |
18: 6,224,047 (GRCm39) |
V247A |
probably benign |
Het |
Klhl22 |
T |
C |
16: 17,589,612 (GRCm39) |
V91A |
probably damaging |
Het |
Ldhd |
T |
C |
8: 112,356,894 (GRCm39) |
S17G |
probably benign |
Het |
Madd |
C |
A |
2: 90,988,359 (GRCm39) |
E1223* |
probably null |
Het |
Mecom |
T |
C |
3: 30,034,639 (GRCm39) |
I346V |
probably benign |
Het |
Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
Nek4 |
C |
T |
14: 30,704,471 (GRCm39) |
T662M |
probably benign |
Het |
Or10g3b |
T |
A |
14: 52,586,768 (GRCm39) |
H245L |
probably damaging |
Het |
Or2y1b |
C |
T |
11: 49,209,155 (GRCm39) |
P261S |
possibly damaging |
Het |
Or4c117 |
T |
A |
2: 88,956,024 (GRCm39) |
Q17L |
possibly damaging |
Het |
Or4k42 |
A |
G |
2: 111,320,411 (GRCm39) |
F31L |
probably benign |
Het |
Or5ac19 |
A |
T |
16: 59,089,263 (GRCm39) |
F256I |
probably benign |
Het |
Or8c18 |
C |
T |
9: 38,203,343 (GRCm39) |
T34I |
probably benign |
Het |
Phc3 |
G |
A |
3: 31,020,007 (GRCm39) |
T19I |
possibly damaging |
Het |
Pla2g4e |
T |
A |
2: 120,007,282 (GRCm39) |
Q472L |
probably benign |
Het |
Plcg2 |
C |
T |
8: 118,342,002 (GRCm39) |
T1121I |
|
Het |
Plin2 |
T |
C |
4: 86,580,324 (GRCm39) |
T146A |
probably benign |
Het |
Pum1 |
T |
G |
4: 130,474,393 (GRCm39) |
S488A |
probably benign |
Het |
Robo1 |
A |
G |
16: 72,539,002 (GRCm39) |
|
probably benign |
Het |
Rsbn1 |
T |
C |
3: 103,822,188 (GRCm39) |
L102P |
probably damaging |
Het |
Sbno2 |
A |
T |
10: 79,896,049 (GRCm39) |
V939E |
probably damaging |
Het |
Scarf1 |
A |
T |
11: 75,406,069 (GRCm39) |
T118S |
possibly damaging |
Het |
Sdcbp2 |
G |
A |
2: 151,429,113 (GRCm39) |
V171M |
probably benign |
Het |
Sh3pxd2b |
T |
C |
11: 32,361,571 (GRCm39) |
I261T |
probably damaging |
Het |
Slc4a9 |
A |
G |
18: 36,673,787 (GRCm39) |
|
probably null |
Het |
Smpdl3a |
A |
G |
10: 57,683,977 (GRCm39) |
Y245C |
probably damaging |
Het |
Stk39 |
T |
C |
2: 68,222,462 (GRCm39) |
I201V |
probably damaging |
Het |
Timm44 |
A |
G |
8: 4,324,204 (GRCm39) |
L25P |
possibly damaging |
Het |
Tinf2 |
T |
C |
14: 55,917,859 (GRCm39) |
H210R |
probably benign |
Het |
Tmem168 |
A |
T |
6: 13,591,446 (GRCm39) |
Y457N |
probably benign |
Het |
Topbp1 |
T |
C |
9: 103,200,727 (GRCm39) |
S587P |
probably benign |
Het |
Tpp1 |
T |
A |
7: 105,398,156 (GRCm39) |
I336F |
probably benign |
Het |
Ttc28 |
G |
A |
5: 111,424,896 (GRCm39) |
V1574I |
probably benign |
Het |
Tut4 |
A |
G |
4: 108,400,029 (GRCm39) |
K1277E |
probably damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,905,181 (GRCm39) |
D219E |
probably benign |
Het |
Zbtb40 |
G |
T |
4: 136,745,904 (GRCm39) |
A43E |
probably damaging |
Het |
Zfp970 |
G |
A |
2: 177,167,010 (GRCm39) |
A195T |
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 |
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 |
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'- ATCAAGTCCCGTACCCACTCTG -3'
(R):5'- TTTGGCCTTCCCAGATGAGTC -3'
Sequencing Primer
(F):5'- GTACCCACTCTGTGTCTGCTGG -3'
(R):5'- TCCCAGATGAGTCGGGTTCCTAG -3'
|
Posted On |
2021-10-11 |