Incidental Mutation 'R6881:Cc2d2b'
ID |
536695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cc2d2b
|
Ensembl Gene |
ENSMUSG00000108929 |
Gene Name |
coiled-coil and C2 domain containing 2B |
Synonyms |
EG668310 |
MMRRC Submission |
045030-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R6881 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
40737197-40816187 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40813483 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1321
(E1321G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153384
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207801]
[ENSMUST00000224596]
|
AlphaFold |
A0A286YDU8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000207801
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224596
AA Change: E1321G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.2604 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
98% (53/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406C07Rik |
A |
C |
9: 15,202,061 (GRCm39) |
C187G |
possibly damaging |
Het |
Abhd16a |
C |
T |
17: 35,315,577 (GRCm39) |
T208I |
probably benign |
Het |
Ahcyl1 |
A |
T |
3: 107,575,425 (GRCm39) |
H425Q |
probably damaging |
Het |
Ankrd22 |
T |
A |
19: 34,126,782 (GRCm39) |
N16I |
probably damaging |
Het |
Ccdc7b |
A |
G |
8: 129,799,028 (GRCm39) |
E35G |
probably damaging |
Het |
Chsy3 |
A |
G |
18: 59,312,480 (GRCm39) |
I318V |
probably damaging |
Het |
Clrn2 |
G |
A |
5: 45,611,164 (GRCm39) |
W4* |
probably null |
Het |
Cmip |
T |
C |
8: 118,163,334 (GRCm39) |
I355T |
possibly damaging |
Het |
Cmya5 |
C |
T |
13: 93,226,800 (GRCm39) |
V2763M |
probably damaging |
Het |
Cnnm2 |
T |
C |
19: 46,865,658 (GRCm39) |
S749P |
probably damaging |
Het |
Cyp1a1 |
G |
T |
9: 57,608,002 (GRCm39) |
R210L |
possibly damaging |
Het |
Dmxl1 |
G |
A |
18: 50,068,372 (GRCm39) |
S2715N |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,590,995 (GRCm39) |
L1021P |
probably damaging |
Het |
Ecm2 |
C |
T |
13: 49,683,818 (GRCm39) |
Q599* |
probably null |
Het |
Galnt11 |
G |
T |
5: 25,455,097 (GRCm39) |
K144N |
possibly damaging |
Het |
Gm45861 |
A |
G |
8: 28,025,279 (GRCm39) |
|
probably null |
Het |
Kcnk18 |
T |
A |
19: 59,208,390 (GRCm39) |
D75E |
probably benign |
Het |
Kcnk2 |
C |
T |
1: 188,942,187 (GRCm39) |
V346M |
probably benign |
Het |
Klhl33 |
T |
A |
14: 51,128,929 (GRCm39) |
M767L |
probably benign |
Het |
Knl1 |
T |
C |
2: 118,925,665 (GRCm39) |
I1898T |
possibly damaging |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lamp3 |
T |
C |
16: 19,518,368 (GRCm39) |
T290A |
probably benign |
Het |
Larp1 |
T |
A |
11: 57,940,849 (GRCm39) |
D658E |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,326,246 (GRCm39) |
I3521F |
probably damaging |
Het |
Med12l |
T |
C |
3: 59,174,586 (GRCm39) |
S1835P |
probably benign |
Het |
Mef2c |
C |
A |
13: 83,741,061 (GRCm39) |
N73K |
probably damaging |
Het |
Mtmr3 |
T |
C |
11: 4,439,725 (GRCm39) |
S572G |
probably benign |
Het |
Neto2 |
A |
T |
8: 86,367,185 (GRCm39) |
S520T |
probably damaging |
Het |
Or10ak16 |
A |
G |
4: 118,750,304 (GRCm39) |
N8S |
probably damaging |
Het |
Or1o4 |
A |
G |
17: 37,591,200 (GRCm39) |
L37S |
probably benign |
Het |
Or4c110 |
A |
T |
2: 88,832,281 (GRCm39) |
M117K |
probably damaging |
Het |
P3h2 |
G |
A |
16: 25,811,495 (GRCm39) |
R243C |
probably damaging |
Het |
Pld1 |
T |
C |
3: 28,132,563 (GRCm39) |
S584P |
possibly damaging |
Het |
Prkcz |
T |
C |
4: 155,353,513 (GRCm39) |
N278S |
possibly damaging |
Het |
Radil |
A |
G |
5: 142,472,672 (GRCm39) |
S913P |
probably benign |
Het |
Retreg2 |
A |
C |
1: 75,123,083 (GRCm39) |
Q337P |
probably damaging |
Het |
Sh3gl3 |
A |
G |
7: 81,956,178 (GRCm39) |
E305G |
possibly damaging |
Het |
Shank1 |
G |
T |
7: 44,001,217 (GRCm39) |
D979Y |
unknown |
Het |
Slc35a5 |
A |
T |
16: 44,964,443 (GRCm39) |
N263K |
possibly damaging |
Het |
Slc4a7 |
A |
T |
14: 14,737,452 (GRCm38) |
M127L |
probably benign |
Het |
Slc8a2 |
G |
A |
7: 15,891,282 (GRCm39) |
G774E |
probably damaging |
Het |
Smim45 |
C |
A |
15: 82,143,786 (GRCm39) |
H3N |
possibly damaging |
Het |
Snap91 |
A |
G |
9: 86,655,646 (GRCm39) |
S847P |
possibly damaging |
Het |
Stoml1 |
T |
C |
9: 58,168,177 (GRCm39) |
L296P |
probably damaging |
Het |
Tap1 |
G |
T |
17: 34,407,008 (GRCm39) |
G52V |
probably damaging |
Het |
Tent4b |
T |
C |
8: 88,977,416 (GRCm39) |
V363A |
possibly damaging |
Het |
Tnfrsf11b |
T |
C |
15: 54,117,539 (GRCm39) |
R239G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,536,846 (GRCm39) |
Y34993C |
probably damaging |
Het |
Uchl1 |
T |
C |
5: 66,841,065 (GRCm39) |
F165L |
probably damaging |
Het |
Xrcc1 |
C |
T |
7: 24,246,776 (GRCm39) |
Q15* |
probably null |
Het |
Zkscan7 |
C |
G |
9: 122,717,766 (GRCm39) |
Q54E |
possibly damaging |
Het |
|
Other mutations in Cc2d2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
mortal
|
UTSW |
19 |
40,797,898 (GRCm39) |
missense |
probably benign |
0.06 |
Shuffeloff
|
UTSW |
19 |
40,813,483 (GRCm39) |
missense |
probably damaging |
0.99 |
1mM(1):Cc2d2b
|
UTSW |
19 |
40,784,129 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6163:Cc2d2b
|
UTSW |
19 |
40,744,950 (GRCm39) |
missense |
probably benign |
0.31 |
R6481:Cc2d2b
|
UTSW |
19 |
40,790,839 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6651:Cc2d2b
|
UTSW |
19 |
40,766,573 (GRCm39) |
missense |
probably damaging |
0.97 |
R6747:Cc2d2b
|
UTSW |
19 |
40,784,111 (GRCm39) |
missense |
probably benign |
0.03 |
R6799:Cc2d2b
|
UTSW |
19 |
40,779,652 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6857:Cc2d2b
|
UTSW |
19 |
40,759,309 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6869:Cc2d2b
|
UTSW |
19 |
40,797,898 (GRCm39) |
missense |
probably benign |
0.06 |
R6900:Cc2d2b
|
UTSW |
19 |
40,813,518 (GRCm39) |
missense |
probably null |
0.08 |
R6902:Cc2d2b
|
UTSW |
19 |
40,804,733 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6960:Cc2d2b
|
UTSW |
19 |
40,773,506 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7016:Cc2d2b
|
UTSW |
19 |
40,784,248 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7039:Cc2d2b
|
UTSW |
19 |
40,790,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R7072:Cc2d2b
|
UTSW |
19 |
40,748,803 (GRCm39) |
missense |
unknown |
|
R7192:Cc2d2b
|
UTSW |
19 |
40,762,881 (GRCm39) |
missense |
unknown |
|
R7226:Cc2d2b
|
UTSW |
19 |
40,779,751 (GRCm39) |
missense |
unknown |
|
R7303:Cc2d2b
|
UTSW |
19 |
40,797,438 (GRCm39) |
missense |
unknown |
|
R7324:Cc2d2b
|
UTSW |
19 |
40,797,552 (GRCm39) |
missense |
unknown |
|
R7503:Cc2d2b
|
UTSW |
19 |
40,783,056 (GRCm39) |
missense |
unknown |
|
R7727:Cc2d2b
|
UTSW |
19 |
40,744,974 (GRCm39) |
missense |
probably benign |
0.03 |
R7774:Cc2d2b
|
UTSW |
19 |
40,754,161 (GRCm39) |
missense |
unknown |
|
R7830:Cc2d2b
|
UTSW |
19 |
40,753,801 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7923:Cc2d2b
|
UTSW |
19 |
40,795,293 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7937:Cc2d2b
|
UTSW |
19 |
40,765,736 (GRCm39) |
missense |
|
|
R8306:Cc2d2b
|
UTSW |
19 |
40,804,228 (GRCm39) |
nonsense |
probably null |
|
R8367:Cc2d2b
|
UTSW |
19 |
40,754,419 (GRCm39) |
missense |
unknown |
|
R8903:Cc2d2b
|
UTSW |
19 |
40,797,726 (GRCm39) |
missense |
unknown |
|
R9056:Cc2d2b
|
UTSW |
19 |
40,784,216 (GRCm39) |
missense |
unknown |
|
R9142:Cc2d2b
|
UTSW |
19 |
40,753,845 (GRCm39) |
nonsense |
probably null |
|
R9256:Cc2d2b
|
UTSW |
19 |
40,797,848 (GRCm39) |
missense |
unknown |
|
R9373:Cc2d2b
|
UTSW |
19 |
40,784,167 (GRCm39) |
missense |
unknown |
|
R9500:Cc2d2b
|
UTSW |
19 |
40,797,840 (GRCm39) |
missense |
unknown |
|
R9503:Cc2d2b
|
UTSW |
19 |
40,804,275 (GRCm39) |
missense |
unknown |
|
R9525:Cc2d2b
|
UTSW |
19 |
40,773,430 (GRCm39) |
missense |
probably damaging |
0.99 |
R9534:Cc2d2b
|
UTSW |
19 |
40,799,068 (GRCm39) |
nonsense |
probably null |
|
R9667:Cc2d2b
|
UTSW |
19 |
40,753,927 (GRCm39) |
missense |
unknown |
|
R9752:Cc2d2b
|
UTSW |
19 |
40,781,271 (GRCm39) |
missense |
probably damaging |
0.96 |
R9764:Cc2d2b
|
UTSW |
19 |
40,804,299 (GRCm39) |
missense |
unknown |
|
R9798:Cc2d2b
|
UTSW |
19 |
40,783,080 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTTCTTGTGACAAGTGAGTAGCG -3'
(R):5'- GCCTATTGGAACAGGAGGTG -3'
Sequencing Primer
(F):5'- GTGAGTAGAGTTGCAGTTTGTCACC -3'
(R):5'- CTGTCTTTGATGACCACGAAAACAGG -3'
|
Posted On |
2018-10-18 |