Incidental Mutation 'R6411:Carmil2'
| ID |
514602 |
| 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 |
044384-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R6411 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106412906-106424819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 106423658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 1211
(D1211Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042608]
[ENSMUST00000062574]
[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 |
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 benign
Transcript: ENSMUST00000212352
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213019
AA Change: D1211Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212430
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212642
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212650
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212643
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Capn7 |
A |
G |
14: 31,062,053 (GRCm39) |
E55G |
probably benign |
Het |
| Carns1 |
G |
T |
19: 4,216,463 (GRCm39) |
A573E |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,779,181 (GRCm39) |
R555G |
probably benign |
Het |
| Guf1 |
T |
C |
5: 69,717,854 (GRCm39) |
I204T |
possibly damaging |
Het |
| Hgsnat |
C |
T |
8: 26,436,303 (GRCm39) |
V584M |
possibly damaging |
Het |
| Izumo2 |
A |
T |
7: 44,369,184 (GRCm39) |
Q186L |
probably benign |
Het |
| Lmtk2 |
A |
T |
5: 144,111,404 (GRCm39) |
Q708L |
probably damaging |
Het |
| Mitf |
T |
C |
6: 97,987,433 (GRCm39) |
|
probably null |
Het |
| Myo9b |
T |
A |
8: 71,775,599 (GRCm39) |
Y340* |
probably null |
Het |
| Naip5 |
A |
G |
13: 100,359,913 (GRCm39) |
I441T |
probably benign |
Het |
| Nbea |
A |
C |
3: 55,712,778 (GRCm39) |
S2100A |
probably benign |
Het |
| Or10ag60 |
G |
T |
2: 87,438,317 (GRCm39) |
C195F |
probably damaging |
Het |
| Or2t47 |
T |
A |
11: 58,442,483 (GRCm39) |
Y194F |
probably damaging |
Het |
| Or5a3 |
G |
A |
19: 12,400,350 (GRCm39) |
V226I |
probably benign |
Het |
| Or6b1 |
A |
G |
6: 42,815,654 (GRCm39) |
T280A |
possibly damaging |
Het |
| Oxnad1 |
C |
G |
14: 31,813,609 (GRCm39) |
H3Q |
possibly damaging |
Het |
| Rab8b |
A |
T |
9: 66,761,948 (GRCm39) |
|
probably null |
Het |
| Rfc4 |
T |
C |
16: 22,932,823 (GRCm39) |
*371W |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Safb2 |
A |
G |
17: 56,878,289 (GRCm39) |
S24P |
probably benign |
Het |
| Sele |
G |
A |
1: 163,876,984 (GRCm39) |
V87I |
probably benign |
Het |
| Slc8b1 |
T |
A |
5: 120,659,191 (GRCm39) |
W212R |
probably damaging |
Het |
| Vmn1r88 |
A |
T |
7: 12,911,970 (GRCm39) |
I109F |
probably damaging |
Het |
| Zfp758 |
A |
T |
17: 22,594,075 (GRCm39) |
D155V |
possibly 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 |
|
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'- TCCTACAGAGTAAAGACGGCG -3'
(R):5'- AATGTCTTCCAGGTGGCAGAC -3'
Sequencing Primer
(F):5'- CCTACAGAGTAAAGACGGCGAGATC -3'
(R):5'- CAGGTCTGCATGAGGGATC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation