Incidental Mutation 'R5735:Carmil2'
ID |
501406 |
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 |
043349-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R5735 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106412906-106424819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 106424663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 1361
(G1361D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042608]
[ENSMUST00000062574]
[ENSMUST00000093195]
[ENSMUST00000098444]
[ENSMUST00000211870]
[ENSMUST00000211888]
[ENSMUST00000213019]
[ENSMUST00000212650]
[ENSMUST00000212642]
[ENSMUST00000212352]
[ENSMUST00000212430]
|
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: 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 damaging
Transcript: ENSMUST00000213019
AA Change: G1361D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212643
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212687
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212972
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212650
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212642
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212352
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212430
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212634
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.8%
- 20x: 94.4%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
C |
A |
13: 70,984,337 (GRCm39) |
D109Y |
possibly damaging |
Het |
Armc8 |
T |
A |
9: 99,379,447 (GRCm39) |
|
probably null |
Het |
Atg4b |
G |
T |
1: 93,701,519 (GRCm39) |
G71V |
probably damaging |
Het |
Atp10b |
A |
T |
11: 43,042,601 (GRCm39) |
M54L |
probably benign |
Het |
Baiap2l1 |
A |
G |
5: 144,223,112 (GRCm39) |
L75P |
probably damaging |
Het |
Bnc2 |
A |
C |
4: 84,210,908 (GRCm39) |
L487R |
probably damaging |
Het |
Cacng7 |
T |
C |
7: 3,387,539 (GRCm39) |
S141P |
probably benign |
Het |
Cenpf |
T |
C |
1: 189,386,560 (GRCm39) |
I1907V |
probably benign |
Het |
Cep192 |
T |
C |
18: 68,013,866 (GRCm39) |
V2422A |
probably benign |
Het |
Cfap73 |
T |
A |
5: 120,770,671 (GRCm39) |
Q33L |
probably benign |
Het |
Cip2a |
T |
A |
16: 48,837,856 (GRCm39) |
|
probably null |
Het |
Cmtm2a |
A |
T |
8: 105,019,418 (GRCm39) |
I57N |
probably damaging |
Het |
Col6a2 |
T |
A |
10: 76,435,727 (GRCm39) |
D836V |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,321,643 (GRCm39) |
V3839A |
possibly damaging |
Het |
Enpp1 |
A |
T |
10: 24,530,817 (GRCm39) |
F546L |
possibly damaging |
Het |
Eps8l2 |
A |
G |
7: 140,940,290 (GRCm39) |
T507A |
probably damaging |
Het |
Erg28 |
C |
T |
12: 85,862,926 (GRCm39) |
E129K |
probably benign |
Het |
Erlec1 |
A |
T |
11: 30,900,591 (GRCm39) |
N153K |
probably benign |
Het |
Fam234a |
T |
C |
17: 26,432,679 (GRCm39) |
E490G |
probably damaging |
Het |
Fat4 |
C |
T |
3: 39,003,725 (GRCm39) |
R1815C |
probably damaging |
Het |
Galnt1 |
T |
G |
18: 24,397,577 (GRCm39) |
I226S |
possibly damaging |
Het |
Ifnl2 |
T |
A |
7: 28,209,614 (GRCm39) |
I58F |
possibly damaging |
Het |
Itih5 |
A |
G |
2: 10,245,572 (GRCm39) |
N554D |
probably benign |
Het |
Kcna10 |
A |
G |
3: 107,102,394 (GRCm39) |
I342V |
probably benign |
Het |
Kif6 |
G |
A |
17: 50,139,210 (GRCm39) |
E561K |
probably damaging |
Het |
Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
Lpar2 |
G |
T |
8: 70,276,385 (GRCm39) |
R58L |
probably damaging |
Het |
Macrod2 |
A |
G |
2: 140,260,809 (GRCm39) |
T27A |
possibly damaging |
Het |
Mfsd2a |
A |
T |
4: 122,843,120 (GRCm39) |
V387D |
probably damaging |
Het |
Npas3 |
A |
T |
12: 54,050,262 (GRCm39) |
T231S |
probably benign |
Het |
Or4a70 |
A |
T |
2: 89,323,812 (GRCm39) |
N281K |
probably damaging |
Het |
Or52n5 |
A |
T |
7: 104,587,966 (GRCm39) |
T78S |
probably benign |
Het |
Or5aq1b |
A |
T |
2: 86,901,756 (GRCm39) |
C241S |
probably damaging |
Het |
Or8h10 |
A |
G |
2: 86,809,044 (GRCm39) |
V32A |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pde10a |
A |
T |
17: 9,160,024 (GRCm39) |
I432F |
probably damaging |
Het |
Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
Pomt1 |
G |
A |
2: 32,133,517 (GRCm39) |
G218R |
probably damaging |
Het |
Potefam1 |
A |
T |
2: 111,055,837 (GRCm39) |
L183* |
probably null |
Het |
Pramel22 |
A |
T |
4: 143,381,205 (GRCm39) |
C273S |
probably damaging |
Het |
Prdm5 |
C |
T |
6: 65,904,974 (GRCm39) |
T157I |
possibly damaging |
Het |
Psen2 |
T |
A |
1: 180,068,491 (GRCm39) |
E54V |
probably benign |
Het |
Ptpn13 |
C |
A |
5: 103,702,686 (GRCm39) |
H1217Q |
probably benign |
Het |
Ptprt |
A |
G |
2: 161,376,484 (GRCm39) |
S1306P |
probably damaging |
Het |
Ptpru |
G |
T |
4: 131,565,401 (GRCm39) |
P23T |
probably benign |
Het |
Rtn3 |
T |
C |
19: 7,434,057 (GRCm39) |
E626G |
probably damaging |
Het |
Scn3a |
A |
T |
2: 65,312,622 (GRCm39) |
M1191K |
probably damaging |
Het |
Scn3a |
T |
A |
2: 65,314,803 (GRCm39) |
N1086I |
probably benign |
Het |
Sgms2 |
A |
T |
3: 131,129,866 (GRCm39) |
M174K |
probably damaging |
Het |
Skor1 |
T |
A |
9: 63,053,346 (GRCm39) |
I180F |
probably damaging |
Het |
Slit2 |
T |
G |
5: 48,416,958 (GRCm39) |
C1003W |
probably damaging |
Het |
Tbc1d2b |
T |
A |
9: 90,104,462 (GRCm39) |
Q560L |
possibly damaging |
Het |
Themis |
A |
G |
10: 28,598,530 (GRCm39) |
I51V |
probably benign |
Het |
Tmem203 |
T |
C |
2: 25,146,085 (GRCm39) |
V135A |
probably benign |
Het |
Tns1 |
T |
C |
1: 73,967,138 (GRCm39) |
T1212A |
probably benign |
Het |
Trgv5 |
T |
G |
13: 19,376,695 (GRCm39) |
H47Q |
probably benign |
Het |
Trim2 |
G |
A |
3: 84,075,029 (GRCm39) |
A697V |
probably damaging |
Het |
Ubxn4 |
T |
C |
1: 128,186,677 (GRCm39) |
S37P |
possibly damaging |
Het |
Vmn2r17 |
A |
G |
5: 109,600,716 (GRCm39) |
I671M |
possibly damaging |
Het |
Vmn2r94 |
G |
T |
17: 18,464,066 (GRCm39) |
S741R |
probably damaging |
Het |
Vwce |
C |
A |
19: 10,624,431 (GRCm39) |
D414E |
probably benign |
Het |
Zfp397 |
T |
C |
18: 24,093,249 (GRCm39) |
S245P |
possibly damaging |
Het |
Zfp747l1 |
G |
T |
7: 126,984,579 (GRCm39) |
H174Q |
possibly damaging |
Het |
Zfp809 |
T |
A |
9: 22,150,227 (GRCm39) |
Y241* |
probably null |
Het |
Zfp995 |
C |
T |
17: 22,101,010 (GRCm39) |
C29Y |
probably benign |
Het |
Zfta |
A |
G |
19: 7,400,161 (GRCm39) |
E209G |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,320,147 (GRCm39) |
D1066G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGCGTGCACTCAAGGTGG -3'
(R):5'- GACAGTATTCCACGCTGTTTC -3'
Sequencing Primer
(F):5'- TGCACTCAAGGTGGACCAG -3'
(R):5'- AGTATTCCACGCTGTTTCATTCAAG -3'
|
Posted On |
2017-12-01 |