Incidental Mutation 'R7597:Carmil2'
ID |
587788 |
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 |
045672-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R7597 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106412906-106424819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106422121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1130
(Y1130C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042608]
[ENSMUST00000211870]
[ENSMUST00000212642]
[ENSMUST00000212650]
[ENSMUST00000213019]
|
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: ENSMUST00000211870
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212642
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212650
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213019
AA Change: Y1130C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
G |
7: 45,644,661 (GRCm39) |
L838P |
probably damaging |
Het |
Adam34l |
T |
G |
8: 44,078,281 (GRCm39) |
N648H |
probably damaging |
Het |
Adgrl4 |
T |
A |
3: 151,248,895 (GRCm39) |
F728I |
probably damaging |
Het |
Asap1 |
A |
G |
15: 64,184,304 (GRCm39) |
V7A |
probably benign |
Het |
B230104I21Rik |
A |
G |
4: 154,434,050 (GRCm39) |
|
probably benign |
Het |
C4b |
A |
T |
17: 34,958,649 (GRCm39) |
S562T |
probably benign |
Het |
Cit |
A |
T |
5: 116,024,740 (GRCm39) |
K328* |
probably null |
Het |
Col18a1 |
T |
C |
10: 76,949,137 (GRCm39) |
D125G |
unknown |
Het |
Cxadr |
T |
C |
16: 78,125,996 (GRCm39) |
V122A |
probably damaging |
Het |
Cyp2d22 |
G |
A |
15: 82,260,053 (GRCm39) |
P44S |
probably damaging |
Het |
Elapor1 |
A |
G |
3: 108,378,745 (GRCm39) |
V351A |
possibly damaging |
Het |
Gabrr1 |
A |
G |
4: 33,148,964 (GRCm39) |
T74A |
probably benign |
Het |
Gfm2 |
C |
A |
13: 97,309,086 (GRCm39) |
A597E |
probably benign |
Het |
H2-T22 |
T |
C |
17: 36,351,408 (GRCm39) |
Y274C |
probably damaging |
Het |
Has2 |
C |
A |
15: 56,531,817 (GRCm39) |
W299C |
probably damaging |
Het |
Hsd17b6 |
A |
G |
10: 127,827,227 (GRCm39) |
S282P |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,110,676 (GRCm39) |
I972V |
probably benign |
Het |
Itih5 |
T |
A |
2: 10,254,187 (GRCm39) |
Y813N |
probably damaging |
Het |
Kctd16 |
A |
G |
18: 40,663,848 (GRCm39) |
T326A |
possibly damaging |
Het |
Klhdc1 |
T |
C |
12: 69,316,642 (GRCm39) |
S342P |
probably damaging |
Het |
Kmt2a |
T |
C |
9: 44,742,650 (GRCm39) |
I1682M |
unknown |
Het |
Lamc1 |
T |
C |
1: 153,116,200 (GRCm39) |
K994E |
possibly damaging |
Het |
Lig1 |
T |
G |
7: 13,030,270 (GRCm39) |
S416A |
probably benign |
Het |
Lims1 |
A |
G |
10: 58,248,263 (GRCm39) |
E240G |
probably damaging |
Het |
Lnpk |
T |
C |
2: 74,399,316 (GRCm39) |
M76V |
probably benign |
Het |
Lrrtm4 |
T |
A |
6: 79,999,428 (GRCm39) |
L280* |
probably null |
Het |
Mfap3l |
A |
T |
8: 61,124,315 (GRCm39) |
I186F |
possibly damaging |
Het |
Mta3 |
T |
C |
17: 84,083,011 (GRCm39) |
F234L |
probably benign |
Het |
Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
Mybpc2 |
C |
T |
7: 44,159,223 (GRCm39) |
G609D |
probably damaging |
Het |
Naga |
A |
T |
15: 82,219,035 (GRCm39) |
D237E |
probably benign |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Nbn |
G |
A |
4: 15,963,911 (GRCm39) |
S104N |
probably damaging |
Het |
Nipsnap2 |
T |
C |
5: 129,816,637 (GRCm39) |
L60P |
probably damaging |
Het |
Or4f47 |
T |
A |
2: 111,972,925 (GRCm39) |
F212I |
probably benign |
Het |
Or8b1b |
G |
A |
9: 38,375,802 (GRCm39) |
G155D |
probably benign |
Het |
Pclo |
C |
T |
5: 14,727,601 (GRCm39) |
T2153I |
unknown |
Het |
Pclo |
A |
C |
5: 14,908,869 (GRCm39) |
K5059T |
unknown |
Het |
Pdlim2 |
C |
A |
14: 70,403,645 (GRCm39) |
A256S |
possibly damaging |
Het |
Pira2 |
T |
C |
7: 3,845,460 (GRCm39) |
D308G |
probably damaging |
Het |
Proc |
G |
T |
18: 32,256,689 (GRCm39) |
A326E |
probably damaging |
Het |
Rab40b |
T |
C |
11: 121,248,709 (GRCm39) |
D182G |
probably benign |
Het |
Rai14 |
A |
G |
15: 10,574,937 (GRCm39) |
S703P |
possibly damaging |
Het |
Rdx |
C |
T |
9: 51,972,196 (GRCm39) |
P2L |
possibly damaging |
Het |
Recql5 |
T |
C |
11: 115,819,207 (GRCm39) |
K120E |
probably benign |
Het |
Rev3l |
C |
T |
10: 39,698,880 (GRCm39) |
R1126C |
probably damaging |
Het |
Slc2a6 |
G |
T |
2: 26,917,195 (GRCm39) |
D70E |
possibly damaging |
Het |
Slc6a17 |
A |
T |
3: 107,378,668 (GRCm39) |
D671E |
possibly damaging |
Het |
Slc7a8 |
G |
A |
14: 55,018,857 (GRCm39) |
|
probably benign |
Het |
Srpk2 |
A |
G |
5: 23,753,517 (GRCm39) |
Y79H |
possibly damaging |
Het |
Traf3ip1 |
T |
A |
1: 91,439,167 (GRCm39) |
I361K |
probably damaging |
Het |
Trpm8 |
A |
G |
1: 88,255,918 (GRCm39) |
Y191C |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,803,812 (GRCm39) |
V1135A |
possibly damaging |
Het |
Usp12 |
C |
A |
5: 146,691,179 (GRCm39) |
|
probably null |
Het |
Vmn1r44 |
C |
A |
6: 89,870,818 (GRCm39) |
P188Q |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,356,099 (GRCm39) |
V3620D |
possibly damaging |
Het |
Zcchc14 |
A |
T |
8: 122,335,239 (GRCm39) |
S294T |
unknown |
Het |
Zfp800 |
T |
C |
6: 28,260,764 (GRCm39) |
D5G |
probably damaging |
Het |
Zfp87 |
C |
T |
13: 67,665,412 (GRCm39) |
R350Q |
probably benign |
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 |
|
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'- AAACCTCGTTCAACAAGGGG -3'
(R):5'- CTGCTCAAAAGATGGAGCCAG -3'
Sequencing Primer
(F):5'- TTCAACAAGGGGTCCGC -3'
(R):5'- CTCAAAAGATGGAGCCAGTTCTGTG -3'
|
Posted On |
2019-10-24 |