Incidental Mutation 'R5991:Carmil2'
ID |
482016 |
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 |
044171-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R5991 (G1)
|
Quality Score |
210.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
106412906-106424819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106418023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 679
(Q679R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062574]
[ENSMUST00000062574]
[ENSMUST00000211870]
[ENSMUST00000213019]
[ENSMUST00000213019]
|
AlphaFold |
no structure available at present |
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 |
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: ENSMUST00000211870
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212643
|
Predicted Effect |
probably null
Transcript: ENSMUST00000213019
AA Change: Q679R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000213019
AA Change: Q679R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.0887 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
Validation Efficiency |
96% (53/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
G |
A |
8: 111,777,032 (GRCm39) |
R683Q |
probably damaging |
Het |
Adam8 |
T |
A |
7: 139,570,200 (GRCm39) |
H69L |
probably damaging |
Het |
Bbs2 |
G |
T |
8: 94,824,914 (GRCm39) |
R23S |
probably benign |
Het |
Bod1l |
A |
T |
5: 41,974,206 (GRCm39) |
C2369* |
probably null |
Het |
Capn11 |
G |
T |
17: 45,970,278 (GRCm39) |
|
probably null |
Het |
Cep120 |
T |
C |
18: 53,854,870 (GRCm39) |
I422V |
probably benign |
Het |
Cnot7 |
A |
C |
8: 40,948,696 (GRCm39) |
|
probably null |
Het |
Col1a1 |
T |
C |
11: 94,828,745 (GRCm39) |
V29A |
unknown |
Het |
Dnttip1 |
A |
T |
2: 164,596,100 (GRCm39) |
Q115L |
possibly damaging |
Het |
Dyrk4 |
A |
G |
6: 126,857,188 (GRCm39) |
V497A |
probably benign |
Het |
Ep300 |
A |
G |
15: 81,532,667 (GRCm39) |
D1635G |
unknown |
Het |
Ercc5 |
T |
A |
1: 44,219,990 (GRCm39) |
C1087* |
probably null |
Het |
Fap |
A |
T |
2: 62,348,865 (GRCm39) |
M517K |
probably damaging |
Het |
Focad |
C |
A |
4: 88,319,256 (GRCm39) |
D1574E |
possibly damaging |
Het |
Fsip2 |
C |
T |
2: 82,820,812 (GRCm39) |
P5515L |
probably benign |
Het |
Gpr158 |
T |
C |
2: 21,373,319 (GRCm39) |
Y85H |
probably damaging |
Het |
Hc |
A |
G |
2: 34,896,117 (GRCm39) |
V1222A |
possibly damaging |
Het |
Hipk3 |
C |
T |
2: 104,268,328 (GRCm39) |
M546I |
probably damaging |
Het |
Jup |
T |
C |
11: 100,270,395 (GRCm39) |
N371D |
possibly damaging |
Het |
Ltbp4 |
A |
G |
7: 27,008,741 (GRCm39) |
Y1262H |
probably damaging |
Het |
Lyar |
A |
G |
5: 38,385,209 (GRCm39) |
E83G |
probably damaging |
Het |
Lyg2 |
C |
T |
1: 37,954,800 (GRCm39) |
|
probably null |
Het |
Mtmr11 |
T |
A |
3: 96,075,905 (GRCm39) |
|
probably null |
Het |
Myct1 |
A |
T |
10: 5,554,426 (GRCm39) |
R98* |
probably null |
Het |
Nol11 |
T |
C |
11: 107,061,971 (GRCm39) |
T612A |
probably benign |
Het |
Or2l5 |
T |
C |
16: 19,333,507 (GRCm39) |
N293S |
probably damaging |
Het |
Or4b1d |
T |
A |
2: 89,968,578 (GRCm39) |
K302* |
probably null |
Het |
Or4c113 |
C |
T |
2: 88,885,126 (GRCm39) |
V215I |
probably benign |
Het |
Or4f61 |
C |
T |
2: 111,922,960 (GRCm39) |
V29M |
probably benign |
Het |
Or5m9 |
A |
G |
2: 85,877,254 (GRCm39) |
I143V |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,661,827 (GRCm39) |
P1403S |
probably benign |
Het |
Pcdhb3 |
T |
C |
18: 37,434,561 (GRCm39) |
S176P |
probably benign |
Het |
Pdcd1lg2 |
C |
T |
19: 29,431,867 (GRCm39) |
R212W |
probably benign |
Het |
Plin3 |
T |
C |
17: 56,593,576 (GRCm39) |
Y46C |
probably damaging |
Het |
Rfx7 |
G |
A |
9: 72,526,820 (GRCm39) |
E1337K |
possibly damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Ryr1 |
G |
T |
7: 28,804,035 (GRCm39) |
N584K |
probably damaging |
Het |
Scmh1 |
T |
C |
4: 120,379,817 (GRCm39) |
V544A |
probably benign |
Het |
Sdk2 |
G |
A |
11: 113,834,080 (GRCm39) |
T34M |
probably damaging |
Het |
Serpinb9e |
T |
A |
13: 33,443,790 (GRCm39) |
L270H |
probably damaging |
Het |
Shoc2 |
T |
A |
19: 53,991,480 (GRCm39) |
N248K |
probably damaging |
Het |
Sirpd |
G |
T |
3: 15,385,818 (GRCm39) |
A28E |
probably benign |
Het |
Slc25a4 |
T |
C |
8: 46,662,373 (GRCm39) |
Y95C |
probably damaging |
Het |
Slc4a1ap |
A |
G |
5: 31,691,413 (GRCm39) |
N403S |
possibly damaging |
Het |
Spink10 |
T |
A |
18: 62,790,956 (GRCm39) |
W7R |
probably null |
Het |
Ssrp1 |
A |
G |
2: 84,872,640 (GRCm39) |
K426R |
possibly damaging |
Het |
Tbc1d24 |
G |
A |
17: 24,428,043 (GRCm39) |
|
probably benign |
Het |
Tead3 |
A |
T |
17: 28,553,352 (GRCm39) |
|
probably null |
Het |
Timd4 |
A |
G |
11: 46,734,030 (GRCm39) |
*344W |
probably null |
Het |
Tmem181a |
T |
A |
17: 6,339,312 (GRCm39) |
W115R |
probably damaging |
Het |
Tmem245 |
G |
A |
4: 56,916,733 (GRCm39) |
T65I |
probably damaging |
Het |
Vmn1r12 |
G |
C |
6: 57,136,640 (GRCm39) |
V202L |
probably damaging |
Het |
Vmn1r80 |
A |
G |
7: 11,927,423 (GRCm39) |
T178A |
probably benign |
Het |
Vps33b |
T |
A |
7: 79,933,162 (GRCm39) |
|
probably null |
Het |
Zmym6 |
T |
A |
4: 127,002,266 (GRCm39) |
|
probably null |
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 |
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'- TGCCACTGAATGACGTAACC -3'
(R):5'- AAAGCAGCCAAATGTTACACGG -3'
Sequencing Primer
(F):5'- TGAATGACGTAACCCAGGCTC -3'
(R):5'- TTACACGGGAAGCTGTTTCAAG -3'
|
Posted On |
2017-06-26 |