Incidental Mutation 'R6960:Cc2d2b'
ID |
541732 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cc2d2b
|
Ensembl Gene |
ENSMUSG00000108929 |
Gene Name |
coiled-coil and C2 domain containing 2B |
Synonyms |
EG668310 |
MMRRC Submission |
045070-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R6960 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
40737197-40816187 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40773506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 523
(V523A)
|
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 |
possibly damaging
Transcript: ENSMUST00000224596
AA Change: V523A
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,072,924 (GRCm39) |
D1170G |
probably benign |
Het |
Ak7 |
A |
T |
12: 105,676,503 (GRCm39) |
T68S |
probably benign |
Het |
Arhgap12 |
A |
T |
18: 6,111,901 (GRCm39) |
N26K |
probably damaging |
Het |
B3galt1 |
A |
T |
2: 67,949,033 (GRCm39) |
E249D |
probably damaging |
Het |
Catsper4 |
T |
A |
4: 133,954,648 (GRCm39) |
M1L |
probably benign |
Het |
Ccn4 |
C |
T |
15: 66,791,047 (GRCm39) |
T283M |
probably benign |
Het |
Cyp11a1 |
T |
C |
9: 57,925,659 (GRCm39) |
F98S |
probably damaging |
Het |
Cyp2d26 |
T |
C |
15: 82,674,446 (GRCm39) |
S479G |
probably damaging |
Het |
Dclre1a |
T |
G |
19: 56,531,141 (GRCm39) |
Y735S |
probably damaging |
Het |
Dio2 |
C |
T |
12: 90,696,671 (GRCm39) |
G106R |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,815,273 (GRCm39) |
|
probably benign |
Het |
Ehhadh |
C |
A |
16: 21,581,028 (GRCm39) |
V655L |
probably benign |
Het |
Ercc2 |
G |
A |
7: 19,127,615 (GRCm39) |
R379Q |
probably damaging |
Het |
Fabp4 |
A |
G |
3: 10,273,537 (GRCm39) |
V12A |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,223,980 (GRCm39) |
I590V |
probably benign |
Het |
Grm8 |
C |
A |
6: 27,981,281 (GRCm39) |
V210L |
probably damaging |
Het |
Jakmip3 |
A |
G |
7: 138,625,065 (GRCm39) |
D359G |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Ly75 |
A |
T |
2: 60,136,749 (GRCm39) |
Y1493N |
probably benign |
Het |
Lyst |
A |
G |
13: 13,808,663 (GRCm39) |
N111S |
probably benign |
Het |
Lyz2 |
G |
C |
10: 117,114,607 (GRCm39) |
I107M |
possibly damaging |
Het |
Mgat5 |
A |
T |
1: 127,248,371 (GRCm39) |
D91V |
possibly damaging |
Het |
Mical3 |
T |
A |
6: 120,935,504 (GRCm39) |
D1674V |
probably damaging |
Het |
Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
Naa16 |
A |
G |
14: 79,596,911 (GRCm39) |
Y358H |
possibly damaging |
Het |
Nktr |
T |
A |
9: 121,571,758 (GRCm39) |
H226Q |
probably damaging |
Het |
Ocln |
T |
G |
13: 100,635,380 (GRCm39) |
K503T |
possibly damaging |
Het |
Olfm4 |
T |
C |
14: 80,258,754 (GRCm39) |
L301S |
probably damaging |
Het |
Or4f4b |
G |
A |
2: 111,314,071 (GRCm39) |
V127I |
possibly damaging |
Het |
Or6c74 |
T |
C |
10: 129,869,972 (GRCm39) |
L159P |
probably benign |
Het |
Paqr4 |
G |
A |
17: 23,956,697 (GRCm39) |
A222V |
probably benign |
Het |
Pcdhb13 |
A |
G |
18: 37,576,509 (GRCm39) |
T296A |
probably benign |
Het |
Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,474,707 (GRCm39) |
V309A |
probably damaging |
Het |
Ptger4 |
T |
C |
15: 5,264,196 (GRCm39) |
R462G |
probably benign |
Het |
Ptprc |
C |
T |
1: 138,006,183 (GRCm39) |
|
probably null |
Het |
Rabggta |
A |
C |
14: 55,959,299 (GRCm39) |
|
probably null |
Het |
Rnf25 |
A |
G |
1: 74,634,403 (GRCm39) |
S207P |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Rtf1 |
A |
G |
2: 119,541,559 (GRCm39) |
Q264R |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,816,129 (GRCm39) |
V619A |
probably benign |
Het |
Serpinb6d |
A |
G |
13: 33,855,181 (GRCm39) |
N285S |
probably benign |
Het |
Slamf6 |
A |
G |
1: 171,745,320 (GRCm39) |
M16V |
probably damaging |
Het |
Slc22a23 |
A |
G |
13: 34,528,140 (GRCm39) |
|
probably null |
Het |
Slc23a2 |
T |
C |
2: 131,933,173 (GRCm39) |
D95G |
probably damaging |
Het |
Smc3 |
T |
C |
19: 53,617,802 (GRCm39) |
Y600H |
probably damaging |
Het |
Tarbp1 |
G |
A |
8: 127,155,778 (GRCm39) |
T1320M |
possibly damaging |
Het |
Tigd4 |
A |
T |
3: 84,501,423 (GRCm39) |
K113N |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,952,763 (GRCm39) |
F1444I |
possibly damaging |
Het |
Tstd3 |
A |
T |
4: 21,767,118 (GRCm39) |
M1K |
probably null |
Het |
Zbtb46 |
T |
C |
2: 181,065,217 (GRCm39) |
D311G |
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 |
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 |
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'- CCACTCTTAGATAATTTGGGAGGG -3'
(R):5'- TCGCTAACCATAGAAGCCAG -3'
Sequencing Primer
(F):5'- GGGGAAGAGCGTTTTATATGGTC -3'
(R):5'- TCGCTAACCATAGAAGCCAGACATTC -3'
|
Posted On |
2018-11-28 |