Incidental Mutation 'R2512:Carmil2'
ID |
253456 |
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 |
040418-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R2512 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106412906-106424819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106424025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 1293
(I1293F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042608]
[ENSMUST00000062574]
[ENSMUST00000093195]
[ENSMUST00000098444]
[ENSMUST00000211870]
[ENSMUST00000211888]
[ENSMUST00000212352]
[ENSMUST00000213019]
[ENSMUST00000212642]
[ENSMUST00000212650]
[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 benign
Transcript: ENSMUST00000212352
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213019
AA Change: I1293F
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212643
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212972
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212642
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212650
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212430
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212634
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212687
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,219,945 (GRCm39) |
T831A |
possibly damaging |
Het |
Actg2 |
T |
A |
6: 83,503,829 (GRCm39) |
I72F |
probably damaging |
Het |
Add1 |
A |
G |
5: 34,774,030 (GRCm39) |
T80A |
probably benign |
Het |
Alpk2 |
G |
A |
18: 65,483,591 (GRCm39) |
T139M |
probably damaging |
Het |
Aplp2 |
C |
T |
9: 31,078,973 (GRCm39) |
R325H |
probably damaging |
Het |
Aptx |
G |
A |
4: 40,694,917 (GRCm39) |
P140S |
probably benign |
Het |
Carm1 |
A |
G |
9: 21,486,708 (GRCm39) |
|
probably null |
Het |
Cdh8 |
T |
C |
8: 100,127,495 (GRCm39) |
T39A |
probably benign |
Het |
Cimip3 |
T |
C |
17: 47,724,651 (GRCm39) |
T60A |
probably benign |
Het |
Col15a1 |
T |
A |
4: 47,245,868 (GRCm39) |
N206K |
possibly damaging |
Het |
Copg2 |
C |
T |
6: 30,873,591 (GRCm39) |
|
probably null |
Het |
Ctr9 |
T |
G |
7: 110,646,078 (GRCm39) |
I690S |
probably damaging |
Het |
Dcaf8 |
T |
G |
1: 172,016,602 (GRCm39) |
I463S |
possibly damaging |
Het |
Dcp1b |
G |
T |
6: 119,183,473 (GRCm39) |
A187S |
possibly damaging |
Het |
Ddo |
T |
A |
10: 40,508,935 (GRCm39) |
D58E |
possibly damaging |
Het |
Dkkl1 |
G |
T |
7: 44,857,157 (GRCm39) |
R137S |
probably damaging |
Het |
Dxo |
A |
G |
17: 35,056,718 (GRCm39) |
N115S |
probably benign |
Het |
Ep400 |
A |
T |
5: 110,856,781 (GRCm39) |
|
probably benign |
Het |
F11 |
A |
G |
8: 45,714,098 (GRCm39) |
V7A |
probably benign |
Het |
Fermt1 |
G |
T |
2: 132,781,438 (GRCm39) |
|
probably null |
Het |
Fign |
A |
T |
2: 63,810,143 (GRCm39) |
F376I |
probably benign |
Het |
Flg2 |
G |
T |
3: 93,109,082 (GRCm39) |
G370V |
probably damaging |
Het |
Fndc3a |
A |
T |
14: 72,793,715 (GRCm39) |
D953E |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,808,511 (GRCm39) |
H1610L |
probably benign |
Het |
Gfra3 |
T |
C |
18: 34,837,564 (GRCm39) |
N145D |
probably benign |
Het |
Inpp4b |
G |
T |
8: 82,737,179 (GRCm39) |
W525C |
probably damaging |
Het |
Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
Lgi2 |
A |
G |
5: 52,695,307 (GRCm39) |
*543R |
probably null |
Het |
Lyn |
A |
G |
4: 3,745,542 (GRCm39) |
T114A |
probably benign |
Het |
Lynx1 |
A |
G |
15: 74,623,169 (GRCm39) |
Y88H |
probably damaging |
Het |
Map4 |
C |
A |
9: 109,863,770 (GRCm39) |
P332T |
possibly damaging |
Het |
Mapk8ip3 |
A |
T |
17: 25,133,677 (GRCm39) |
C250* |
probably null |
Het |
Metap1d |
A |
G |
2: 71,352,954 (GRCm39) |
H261R |
probably damaging |
Het |
Mfrp |
T |
C |
9: 44,013,835 (GRCm39) |
V115A |
probably benign |
Het |
Mtbp |
A |
G |
15: 55,440,932 (GRCm39) |
Y373C |
probably damaging |
Het |
Mtor |
C |
A |
4: 148,614,948 (GRCm39) |
R1628S |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,412,813 (GRCm39) |
N1920D |
unknown |
Het |
Myo1d |
T |
A |
11: 80,670,543 (GRCm39) |
M26L |
probably benign |
Het |
Neb |
A |
C |
2: 52,100,843 (GRCm39) |
D643E |
probably damaging |
Het |
Nme1 |
A |
G |
11: 93,851,513 (GRCm39) |
F108L |
possibly damaging |
Het |
Or2r11 |
A |
G |
6: 42,437,207 (GRCm39) |
S249P |
probably damaging |
Het |
Or8c15 |
G |
T |
9: 38,120,670 (GRCm39) |
C54F |
probably damaging |
Het |
Pan2 |
T |
A |
10: 128,140,326 (GRCm39) |
D82E |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,762,612 (GRCm39) |
D3695G |
unknown |
Het |
Pcnx4 |
A |
T |
12: 72,603,573 (GRCm39) |
|
probably null |
Het |
Plg |
A |
G |
17: 12,622,116 (GRCm39) |
T479A |
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Pramel32 |
T |
G |
4: 88,547,195 (GRCm39) |
M246L |
probably damaging |
Het |
Ptgis |
T |
C |
2: 167,049,196 (GRCm39) |
D372G |
probably damaging |
Het |
Ranbp3l |
A |
G |
15: 8,997,949 (GRCm39) |
T14A |
probably benign |
Het |
Rcc1l |
A |
T |
5: 134,195,508 (GRCm39) |
V230D |
probably damaging |
Het |
Reln |
T |
C |
5: 22,184,688 (GRCm39) |
D1609G |
possibly damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
G |
A |
7: 28,802,967 (GRCm39) |
L696F |
possibly damaging |
Het |
Sacs |
T |
A |
14: 61,440,529 (GRCm39) |
D858E |
probably benign |
Het |
Sec16a |
C |
T |
2: 26,329,037 (GRCm39) |
V993I |
probably benign |
Het |
Skint5 |
T |
A |
4: 113,487,616 (GRCm39) |
I901F |
unknown |
Het |
Slc17a3 |
A |
T |
13: 24,030,230 (GRCm39) |
I114F |
probably benign |
Het |
Slc17a7 |
T |
A |
7: 44,818,288 (GRCm39) |
L71Q |
probably damaging |
Het |
Slc43a2 |
T |
C |
11: 75,461,403 (GRCm39) |
S452P |
probably damaging |
Het |
Smarca4 |
A |
G |
9: 21,546,994 (GRCm39) |
N173S |
possibly damaging |
Het |
Tbc1d21 |
T |
C |
9: 58,270,195 (GRCm39) |
Y161C |
probably damaging |
Het |
Tpsab1 |
C |
A |
17: 25,564,081 (GRCm39) |
C94F |
probably damaging |
Het |
Ubr5 |
G |
A |
15: 38,002,563 (GRCm39) |
P1496L |
probably damaging |
Het |
Unc80 |
G |
T |
1: 66,710,767 (GRCm39) |
A2679S |
possibly damaging |
Het |
Vdac1 |
T |
A |
11: 52,274,904 (GRCm39) |
V184E |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,763,985 (GRCm39) |
S287R |
probably benign |
Het |
Vmn2r91 |
T |
C |
17: 18,356,048 (GRCm39) |
F572L |
probably benign |
Het |
Vps13b |
G |
A |
15: 35,884,701 (GRCm39) |
E3125K |
probably benign |
Het |
Ythdf3 |
A |
G |
3: 16,259,059 (GRCm39) |
N406S |
possibly damaging |
Het |
Zfp708 |
T |
C |
13: 67,219,251 (GRCm39) |
K158E |
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 |
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 |
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'- AGATCCCTCATGCAGACCTG -3'
(R):5'- CTCATGCACAGACACTGCTC -3'
Sequencing Primer
(F):5'- TCATGCAGACCTGGGCCAG -3'
(R):5'- CCTCAGCTGGCCATCTAGAG -3'
|
Posted On |
2014-12-04 |