Incidental Mutation 'R2009:C2cd6'
| ID |
219322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C2cd6
|
| Ensembl Gene |
ENSMUSG00000072295 |
| Gene Name |
C2 calcium dependent domain containing 6 |
| Synonyms |
Als2cr11, C2cd6b, Gm33589, 1700052H20Rik, Als2cr11b, 4930408G06Rik |
| MMRRC Submission |
040018-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R2009 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
59036275-59134059 bp(-) (GRCm39) |
| Type of Mutation |
exon |
| DNA Base Change (assembly) |
A to T
at 59042391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
A0A5F8MPU3 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000054653
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
T |
A |
9: 30,833,433 (GRCm39) |
D34V |
probably benign |
Het |
| Adgrf1 |
A |
T |
17: 43,632,112 (GRCm39) |
R884* |
probably null |
Het |
| Adgrg7 |
T |
C |
16: 56,582,236 (GRCm39) |
T301A |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,530,988 (GRCm39) |
I1366T |
probably damaging |
Het |
| C1s2 |
A |
T |
6: 124,612,048 (GRCm39) |
L112H |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,504,724 (GRCm39) |
R103H |
possibly damaging |
Het |
| Col7a1 |
A |
T |
9: 108,797,943 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
A |
G |
5: 104,360,706 (GRCm39) |
S461G |
probably damaging |
Het |
| Eif4g2 |
A |
T |
7: 110,673,405 (GRCm39) |
D753E |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etv4 |
T |
C |
11: 101,665,063 (GRCm39) |
D130G |
probably damaging |
Het |
| Gabbr2 |
A |
T |
4: 46,734,119 (GRCm39) |
I533N |
probably damaging |
Het |
| Gne |
T |
C |
4: 44,055,273 (GRCm39) |
E234G |
probably benign |
Het |
| Itga6 |
C |
A |
2: 71,647,025 (GRCm39) |
N78K |
probably benign |
Het |
| Lap3 |
C |
T |
5: 45,650,899 (GRCm39) |
T33M |
probably benign |
Het |
| Limd1 |
A |
G |
9: 123,308,564 (GRCm39) |
S88G |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,380,385 (GRCm39) |
T3922K |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,971,517 (GRCm39) |
|
probably benign |
Het |
| Mib1 |
T |
C |
18: 10,812,118 (GRCm39) |
L263S |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,216,427 (GRCm39) |
S1474G |
probably benign |
Het |
| Nkapl |
A |
C |
13: 21,651,607 (GRCm39) |
S335R |
probably damaging |
Het |
| Nrg3 |
A |
G |
14: 38,092,771 (GRCm39) |
S605P |
probably damaging |
Het |
| Or10x4 |
G |
T |
1: 174,218,995 (GRCm39) |
R120L |
possibly damaging |
Het |
| Or52b3 |
A |
G |
7: 102,204,151 (GRCm39) |
Y220C |
probably damaging |
Het |
| Patj |
G |
A |
4: 98,344,406 (GRCm39) |
D577N |
probably damaging |
Het |
| Pfpl |
A |
C |
19: 12,407,319 (GRCm39) |
K523N |
possibly damaging |
Het |
| Pik3c2a |
A |
C |
7: 115,963,738 (GRCm39) |
L924R |
probably damaging |
Het |
| Pkd2l1 |
C |
A |
19: 44,144,403 (GRCm39) |
R278L |
probably benign |
Het |
| Prss2 |
A |
T |
6: 41,500,910 (GRCm39) |
I108F |
probably damaging |
Het |
| Rnase2b |
A |
G |
14: 51,400,347 (GRCm39) |
T143A |
possibly damaging |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Sphk2 |
A |
T |
7: 45,360,437 (GRCm39) |
H522Q |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,235,261 (GRCm39) |
|
probably null |
Het |
| Tmem88 |
C |
A |
11: 69,288,602 (GRCm39) |
A106S |
probably damaging |
Het |
| Trappc14 |
C |
A |
5: 138,259,191 (GRCm39) |
C434F |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,574,646 (GRCm39) |
L252S |
possibly damaging |
Het |
| Trim60 |
T |
A |
8: 65,453,975 (GRCm39) |
E91D |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,641,475 (GRCm39) |
I145T |
possibly damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,729 (GRCm39) |
M761L |
probably benign |
Het |
| Wdr4 |
G |
A |
17: 31,719,584 (GRCm39) |
|
probably benign |
Het |
| Wfs1 |
A |
T |
5: 37,125,653 (GRCm39) |
S413T |
probably damaging |
Het |
| Wnt2 |
A |
T |
6: 18,030,208 (GRCm39) |
W27R |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,651,158 (GRCm39) |
H687Q |
probably damaging |
Het |
| Zfp750 |
G |
A |
11: 121,403,951 (GRCm39) |
P308L |
possibly damaging |
Het |
|
| Other mutations in C2cd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00981:C2cd6
|
APN |
1 |
59,117,104 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01012:C2cd6
|
APN |
1 |
59,036,507 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01682:C2cd6
|
APN |
1 |
59,101,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01834:C2cd6
|
APN |
1 |
59,036,604 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01982:C2cd6
|
APN |
1 |
59,106,932 (GRCm39) |
splice site |
probably benign |
|
|
IGL02027:C2cd6
|
APN |
1 |
59,099,763 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02069:C2cd6
|
APN |
1 |
59,091,700 (GRCm39) |
splice site |
probably benign |
|
|
IGL02232:C2cd6
|
APN |
1 |
59,101,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02280:C2cd6
|
APN |
1 |
59,117,040 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02392:C2cd6
|
APN |
1 |
59,133,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02440:C2cd6
|
APN |
1 |
59,114,259 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02469:C2cd6
|
APN |
1 |
59,036,640 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02660:C2cd6
|
APN |
1 |
59,090,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02720:C2cd6
|
APN |
1 |
59,090,307 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03340:C2cd6
|
APN |
1 |
59,115,830 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1472:C2cd6
|
UTSW |
1 |
59,106,944 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1476:C2cd6
|
UTSW |
1 |
59,115,887 (GRCm39) |
splice site |
probably benign |
|
|
R1753:C2cd6
|
UTSW |
1 |
59,133,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3724:C2cd6
|
UTSW |
1 |
59,105,394 (GRCm39) |
splice site |
probably benign |
|
|
R4887:C2cd6
|
UTSW |
1 |
59,133,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5115:C2cd6
|
UTSW |
1 |
59,090,420 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5335:C2cd6
|
UTSW |
1 |
59,043,393 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R6406:C2cd6
|
UTSW |
1 |
59,097,835 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6467:C2cd6
|
UTSW |
1 |
59,117,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6697:C2cd6
|
UTSW |
1 |
59,090,247 (GRCm39) |
small deletion |
probably benign |
|
|
R6801:C2cd6
|
UTSW |
1 |
59,133,742 (GRCm39) |
frame shift |
probably null |
|
|
R6882:C2cd6
|
UTSW |
1 |
59,105,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7468:C2cd6
|
UTSW |
1 |
59,107,844 (GRCm39) |
missense |
probably benign |
|
|
R7821:C2cd6
|
UTSW |
1 |
59,106,951 (GRCm39) |
nonsense |
probably null |
|
|
R8338:C2cd6
|
UTSW |
1 |
59,099,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8368:C2cd6
|
UTSW |
1 |
59,133,820 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8768:C2cd6
|
UTSW |
1 |
59,105,312 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8774:C2cd6
|
UTSW |
1 |
59,099,825 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8774-TAIL:C2cd6
|
UTSW |
1 |
59,099,825 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8970:C2cd6
|
UTSW |
1 |
59,108,895 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9617:C2cd6
|
UTSW |
1 |
59,097,848 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9700:C2cd6
|
UTSW |
1 |
59,117,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCTGTATTCCATGGGACTAC -3'
(R):5'- AACGTGCCAAGATCTCTGAATC -3'
Sequencing Primer
(F):5'- CTGCACTCAGAAGGCATAAGTATTC -3'
(R):5'- GTGCCAAGATCTCTGAATCACAGTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation