Incidental Mutation 'R7263:Carmil2'
ID |
564757 |
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 |
045388-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R7263 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
106412906-106424819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 106419677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 828
(R828C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042608]
[ENSMUST00000211870]
[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 damaging
Transcript: ENSMUST00000213019
AA Change: R828C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
96% (67/70) |
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 |
Abca4 |
C |
A |
3: 121,847,843 (GRCm39) |
H55N |
probably damaging |
Het |
Acan |
G |
T |
7: 78,742,066 (GRCm39) |
V488L |
probably damaging |
Het |
Adam12 |
T |
C |
7: 133,521,240 (GRCm39) |
E638G |
possibly damaging |
Het |
Adamts20 |
T |
A |
15: 94,220,772 (GRCm39) |
Q1387L |
possibly damaging |
Het |
Adamts3 |
G |
T |
5: 89,825,601 (GRCm39) |
D1079E |
probably benign |
Het |
Barx1 |
G |
T |
13: 48,818,555 (GRCm39) |
G93C |
probably damaging |
Het |
Catsper4 |
TTCTC |
TTC |
4: 133,954,423 (GRCm39) |
|
probably null |
Het |
Ccdc159 |
T |
C |
9: 21,843,007 (GRCm39) |
M148T |
probably benign |
Het |
Cdk5rap1 |
T |
A |
2: 154,202,652 (GRCm39) |
N193Y |
probably benign |
Het |
Csnk1g2 |
G |
A |
10: 80,470,332 (GRCm39) |
G15D |
probably damaging |
Het |
Dach1 |
T |
C |
14: 98,406,295 (GRCm39) |
S151G |
probably benign |
Het |
Elf5 |
C |
A |
2: 103,269,645 (GRCm39) |
N75K |
probably benign |
Het |
Elp3 |
T |
C |
14: 65,802,782 (GRCm39) |
D272G |
probably damaging |
Het |
Epb41l1 |
T |
A |
2: 156,337,043 (GRCm39) |
|
probably null |
Het |
Epha6 |
A |
G |
16: 59,596,028 (GRCm39) |
Y888H |
probably damaging |
Het |
Fibcd1 |
T |
C |
2: 31,707,222 (GRCm39) |
Y345C |
probably damaging |
Het |
Gjd3 |
C |
T |
11: 102,690,963 (GRCm39) |
E347K |
possibly damaging |
Het |
Gse1 |
A |
G |
8: 121,300,910 (GRCm39) |
D892G |
unknown |
Het |
Gtpbp6 |
A |
T |
5: 110,251,915 (GRCm39) |
I506N |
probably benign |
Het |
Hivep1 |
T |
A |
13: 42,311,668 (GRCm39) |
F1303I |
possibly damaging |
Het |
Il21r |
A |
G |
7: 125,232,077 (GRCm39) |
T502A |
probably benign |
Het |
Ints1 |
T |
C |
5: 139,749,834 (GRCm39) |
T997A |
possibly damaging |
Het |
Invs |
C |
A |
4: 48,396,381 (GRCm39) |
N351K |
probably damaging |
Het |
Iqcm |
A |
G |
8: 76,489,701 (GRCm39) |
T390A |
probably benign |
Het |
Iqcn |
A |
G |
8: 71,163,425 (GRCm39) |
N873D |
possibly damaging |
Het |
Kcnh4 |
C |
T |
11: 100,632,643 (GRCm39) |
G948D |
probably benign |
Het |
Kcnh7 |
T |
A |
2: 62,566,314 (GRCm39) |
|
probably null |
Het |
Lrrc72 |
A |
G |
12: 36,258,611 (GRCm39) |
V82A |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,271,943 (GRCm39) |
L6535Q |
probably damaging |
Het |
Ncor2 |
G |
C |
5: 125,109,196 (GRCm39) |
L585V |
|
Het |
Nipal2 |
G |
C |
15: 34,578,904 (GRCm39) |
Y298* |
probably null |
Het |
Nipsnap1 |
C |
T |
11: 4,832,960 (GRCm39) |
|
probably benign |
Het |
Or12e1 |
T |
A |
2: 87,022,476 (GRCm39) |
C148* |
probably null |
Het |
Or4x12-ps1 |
T |
C |
2: 89,916,332 (GRCm39) |
I158V |
not run |
Het |
Or51g1 |
A |
T |
7: 102,633,524 (GRCm39) |
Y282* |
probably null |
Het |
Pcdhga4 |
C |
T |
18: 37,819,873 (GRCm39) |
T474I |
probably benign |
Het |
Pdp1 |
G |
T |
4: 11,960,821 (GRCm39) |
Q516K |
possibly damaging |
Het |
Pik3c2b |
C |
T |
1: 133,017,940 (GRCm39) |
P934L |
probably damaging |
Het |
Pp2d1 |
A |
G |
17: 53,822,358 (GRCm39) |
I236T |
probably benign |
Het |
Pygm |
G |
A |
19: 6,438,357 (GRCm39) |
R278H |
probably damaging |
Het |
Rb1 |
A |
T |
14: 73,520,363 (GRCm39) |
C215* |
probably null |
Het |
Rgs22 |
A |
G |
15: 36,015,789 (GRCm39) |
S1156P |
possibly damaging |
Het |
Rgs9bp |
T |
C |
7: 35,284,126 (GRCm39) |
T174A |
probably damaging |
Het |
Rnf133 |
A |
T |
6: 23,649,667 (GRCm39) |
Y130* |
probably null |
Het |
Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
Serpinb6e |
A |
T |
13: 34,022,923 (GRCm39) |
F153L |
probably benign |
Het |
Slc22a1 |
A |
T |
17: 12,885,587 (GRCm39) |
Y200N |
probably damaging |
Het |
Slc22a22 |
C |
A |
15: 57,113,107 (GRCm39) |
M377I |
probably benign |
Het |
Slc36a4 |
A |
G |
9: 15,633,452 (GRCm39) |
|
probably null |
Het |
Slc39a6 |
A |
G |
18: 24,734,260 (GRCm39) |
V143A |
probably benign |
Het |
Slf2 |
G |
A |
19: 44,926,863 (GRCm39) |
|
probably null |
Het |
Sowaha |
T |
C |
11: 53,370,485 (GRCm39) |
K84E |
probably benign |
Het |
Spef2 |
T |
G |
15: 9,653,098 (GRCm39) |
|
probably null |
Het |
Sphkap |
A |
T |
1: 83,254,399 (GRCm39) |
F1117I |
probably damaging |
Het |
Tas2r113 |
T |
C |
6: 132,870,539 (GRCm39) |
I189T |
possibly damaging |
Het |
Tescl |
T |
C |
7: 24,033,247 (GRCm39) |
E26G |
possibly damaging |
Het |
Trpm6 |
A |
T |
19: 18,854,150 (GRCm39) |
I1847F |
probably damaging |
Het |
Uba1y |
T |
A |
Y: 822,200 (GRCm39) |
C178S |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 188,175,526 (GRCm39) |
V1208D |
possibly damaging |
Het |
Usp13 |
G |
C |
3: 32,949,000 (GRCm39) |
A446P |
probably damaging |
Het |
Usp7 |
A |
T |
16: 8,514,588 (GRCm39) |
C722S |
possibly damaging |
Het |
Vmn1r52 |
A |
G |
6: 90,156,535 (GRCm39) |
S280G |
probably benign |
Het |
Vmn2r84 |
T |
C |
10: 130,225,077 (GRCm39) |
K478E |
probably damaging |
Het |
Zfp112 |
C |
A |
7: 23,824,952 (GRCm39) |
L311I |
probably benign |
Het |
Zfp180 |
G |
T |
7: 23,805,125 (GRCm39) |
E515* |
probably null |
Het |
Zfp518b |
A |
G |
5: 38,829,671 (GRCm39) |
I778T |
probably damaging |
Het |
Zfp800 |
A |
T |
6: 28,243,662 (GRCm39) |
H434Q |
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 |
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'- ACCCTGGATACCACAAGGAG -3'
(R):5'- GTAGCTAGCTTATGACCCCAGAAG -3'
Sequencing Primer
(F):5'- TGGATACCACAAGGAGCCTCTG -3'
(R):5'- CCAGAAGTCATTTCAGGGTTGCC -3'
|
Posted On |
2019-06-26 |