Incidental Mutation 'R6900:Cc2d2b'
| ID |
538507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2b
|
| Ensembl Gene |
ENSMUSG00000108929 |
| Gene Name |
coiled-coil and C2 domain containing 2B |
| Synonyms |
EG668310 |
| MMRRC Submission |
044994-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R6900 (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 40813518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1333
(S1333G)
|
| 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 null
Transcript: ENSMUST00000224596
AA Change: S1333G
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
T |
C |
8: 78,037,491 (GRCm39) |
D579G |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,838,190 (GRCm39) |
|
probably null |
Het |
| Chd3 |
T |
C |
11: 69,245,271 (GRCm39) |
D1149G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,701,510 (GRCm39) |
L215P |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,209,903 (GRCm39) |
M993V |
probably benign |
Het |
| Ggt5 |
A |
T |
10: 75,446,371 (GRCm39) |
Q523L |
possibly damaging |
Het |
| Hcn1 |
A |
G |
13: 117,793,363 (GRCm39) |
N205S |
probably benign |
Het |
| Htr1b |
A |
T |
9: 81,513,623 (GRCm39) |
I328N |
probably damaging |
Het |
| Itgav |
T |
A |
2: 83,633,591 (GRCm39) |
F980Y |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,757,008 (GRCm39) |
S243P |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,587 (GRCm39) |
N97S |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,394,908 (GRCm39) |
Y578C |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,367,675 (GRCm39) |
K468E |
probably benign |
Het |
| Map3k1 |
T |
C |
13: 111,890,350 (GRCm39) |
N1283S |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,128,097 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
A |
G |
15: 4,938,469 (GRCm39) |
I253V |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,835,169 (GRCm39) |
F228S |
probably damaging |
Het |
| Or4k1 |
A |
T |
14: 50,377,295 (GRCm39) |
V267E |
possibly damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,374,123 (GRCm39) |
F2004S |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,604,925 (GRCm39) |
L1130Q |
probably benign |
Het |
| Pparg |
G |
T |
6: 115,449,949 (GRCm39) |
R286L |
possibly damaging |
Het |
| Ppp1r16a |
A |
G |
15: 76,575,923 (GRCm39) |
S96G |
probably damaging |
Het |
| Psg29 |
C |
T |
7: 16,938,857 (GRCm39) |
Q44* |
probably null |
Het |
| Rgs22 |
A |
G |
15: 36,010,893 (GRCm39) |
F1227S |
possibly damaging |
Het |
| Saxo1 |
T |
C |
4: 86,363,571 (GRCm39) |
D304G |
possibly damaging |
Het |
| Sec14l1 |
T |
C |
11: 117,008,049 (GRCm39) |
Y12H |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,489 (GRCm39) |
N779S |
probably benign |
Het |
| Sin3a |
T |
C |
9: 57,014,858 (GRCm39) |
V693A |
probably damaging |
Het |
| Teddm1b |
G |
A |
1: 153,750,956 (GRCm39) |
C255Y |
probably benign |
Het |
| Ttk |
T |
A |
9: 83,754,083 (GRCm39) |
S819T |
probably damaging |
Het |
| Zfp362 |
C |
T |
4: 128,679,808 (GRCm39) |
C273Y |
probably 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 |
|
R6881:Cc2d2b
|
UTSW |
19 |
40,813,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AGTAGCGTGAGTAGAGTTGC -3'
(R):5'- GACAGCTAGCCTATTGGAACAGG -3'
Sequencing Primer
(F):5'- AGTAGAGTTGCAGTTTGTCACC -3'
(R):5'- CTAGCCTATTGGAACAGGAGGTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation