Incidental Mutation 'R6919:Cc2d2a'
| ID |
539488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
045039-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R6919 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43662346-43740972 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43703215 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 544
(D544E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048150
AA Change: D544E
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: D544E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
217 |
N/A |
INTRINSIC |
|
coiled coil region
|
472 |
501 |
N/A |
INTRINSIC |
|
coiled coil region
|
553 |
582 |
N/A |
INTRINSIC |
|
Pfam:CC2D2AN-C2
|
645 |
817 |
2e-36 |
PFAM |
|
low complexity region
|
1005 |
1017 |
N/A |
INTRINSIC |
|
low complexity region
|
1024 |
1036 |
N/A |
INTRINSIC |
|
C2
|
1048 |
1208 |
3.43e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125866
AA Change: D495E
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: D495E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
168 |
N/A |
INTRINSIC |
|
coiled coil region
|
423 |
452 |
N/A |
INTRINSIC |
|
coiled coil region
|
504 |
533 |
N/A |
INTRINSIC |
|
Pfam:CC2D2AN-C2
|
596 |
768 |
7.7e-44 |
PFAM |
|
low complexity region
|
970 |
982 |
N/A |
INTRINSIC |
|
C2
|
994 |
1154 |
2.3e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.0708 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
99% (84/85) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality with multiorgan defects related to cilia biogenesis. Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. Homozygotes for an ENU-induced allele show heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted, other(4) Gene trapped(1) |
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
G |
11: 65,152,530 (GRCm38) |
|
probably benign |
Het |
| 6430548M08Rik |
T |
C |
8: 120,145,482 (GRCm38) |
S50P |
probably damaging |
Het |
| Aacs |
A |
G |
5: 125,506,163 (GRCm38) |
D261G |
probably benign |
Het |
| Abcc4 |
T |
A |
14: 118,594,894 (GRCm38) |
T775S |
probably benign |
Het |
| Acsl6 |
A |
G |
11: 54,341,756 (GRCm38) |
|
probably null |
Het |
| Agbl5 |
T |
A |
5: 30,904,717 (GRCm38) |
F196I |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,774,684 (GRCm38) |
T985A |
possibly damaging |
Het |
| Ak1 |
A |
T |
2: 32,631,122 (GRCm38) |
D101V |
possibly damaging |
Het |
| Alx1 |
A |
G |
10: 103,025,200 (GRCm38) |
Y156H |
probably damaging |
Het |
| Angptl7 |
T |
A |
4: 148,500,031 (GRCm38) |
S87C |
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,629,299 (GRCm38) |
T188A |
probably benign |
Het |
| Arhgap11a |
A |
C |
2: 113,839,709 (GRCm38) |
S356R |
possibly damaging |
Het |
| Ascc3 |
G |
T |
10: 50,645,753 (GRCm38) |
E455* |
probably null |
Het |
| Atp6v0a2 |
G |
A |
5: 124,712,161 (GRCm38) |
|
probably null |
Het |
| B3gnt7 |
T |
C |
1: 86,305,694 (GRCm38) |
W104R |
probably damaging |
Het |
| Bbs9 |
G |
A |
9: 22,812,544 (GRCm38) |
|
probably null |
Het |
| Cic |
C |
T |
7: 25,271,777 (GRCm38) |
T311I |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,248,375 (GRCm38) |
R1157W |
probably null |
Het |
| Cntln |
A |
G |
4: 85,115,368 (GRCm38) |
H1310R |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,293,953 (GRCm38) |
I764F |
probably benign |
Het |
| Col26a1 |
T |
C |
5: 136,744,234 (GRCm38) |
Q362R |
possibly damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,291,141 (GRCm38) |
R100K |
probably benign |
Het |
| D17H6S53E |
C |
G |
17: 35,127,246 (GRCm38) |
D44E |
probably damaging |
Het |
| Dap3 |
A |
G |
3: 88,930,989 (GRCm38) |
V65A |
probably damaging |
Het |
| Dna2 |
A |
T |
10: 62,957,003 (GRCm38) |
I266F |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,585,066 (GRCm38) |
G57E |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,643,152 (GRCm38) |
V333E |
probably benign |
Het |
| Dpm1 |
A |
G |
2: 168,230,275 (GRCm38) |
Y27H |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,167,655 (GRCm38) |
Y150F |
possibly damaging |
Het |
| Emilin3 |
A |
T |
2: 160,908,098 (GRCm38) |
I577N |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,671,433 (GRCm38) |
T189A |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,282,771 (GRCm38) |
I2372T |
possibly damaging |
Het |
| Fbn2 |
A |
T |
18: 58,124,187 (GRCm38) |
|
probably null |
Het |
| Gnl1 |
A |
T |
17: 35,987,533 (GRCm38) |
R390* |
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,183,452 (GRCm38) |
I2336V |
probably benign |
Het |
| Il17rb |
C |
G |
14: 30,004,271 (GRCm38) |
|
probably null |
Het |
| Itga9 |
T |
C |
9: 118,887,815 (GRCm38) |
W396R |
probably damaging |
Het |
| Katnal2 |
A |
G |
18: 77,011,038 (GRCm38) |
V152A |
probably benign |
Het |
| Kcnk3 |
A |
G |
5: 30,622,400 (GRCm38) |
T265A |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,136,594 (GRCm38) |
Y672C |
probably benign |
Het |
| Leng8 |
C |
A |
7: 4,143,626 (GRCm38) |
N412K |
possibly damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,506,393 (GRCm38) |
F1356L |
probably benign |
Het |
| Map7 |
A |
G |
10: 20,171,082 (GRCm38) |
|
probably benign |
Het |
| Mei1 |
T |
C |
15: 82,081,930 (GRCm38) |
F251S |
probably damaging |
Het |
| Mia2 |
A |
G |
12: 59,129,895 (GRCm38) |
E9G |
possibly damaging |
Het |
| Ms4a13 |
C |
A |
19: 11,171,885 (GRCm38) |
W182C |
probably benign |
Het |
| Muc16 |
C |
T |
9: 18,660,299 (GRCm38) |
R308K |
unknown |
Het |
| Or4c103 |
G |
A |
2: 88,683,684 (GRCm38) |
T16I |
possibly damaging |
Het |
| Or8g22 |
A |
G |
9: 39,047,531 (GRCm38) |
|
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,385,798 (GRCm38) |
V1998A |
probably benign |
Het |
| Pgm1 |
A |
T |
5: 64,097,025 (GRCm38) |
N51I |
probably benign |
Het |
| Piezo1 |
T |
A |
8: 122,490,281 (GRCm38) |
H1333L |
probably damaging |
Het |
| Prg2 |
G |
A |
2: 84,983,256 (GRCm38) |
V199M |
probably damaging |
Het |
| Prss51 |
T |
C |
14: 64,097,488 (GRCm38) |
V182A |
probably damaging |
Het |
| Psmb9 |
A |
T |
17: 34,183,225 (GRCm38) |
Y132* |
probably null |
Het |
| Ralyl |
T |
C |
3: 13,777,031 (GRCm38) |
Y76H |
probably damaging |
Het |
| Rnaset2a |
A |
T |
17: 8,130,282 (GRCm38) |
D174E |
probably benign |
Het |
| Rnft1 |
G |
A |
11: 86,495,330 (GRCm38) |
|
probably null |
Het |
| Robo2 |
T |
C |
16: 73,961,867 (GRCm38) |
Y676C |
probably damaging |
Het |
| Samd9l |
T |
G |
6: 3,376,313 (GRCm38) |
Y316S |
possibly damaging |
Het |
| Siah3 |
T |
A |
14: 75,456,138 (GRCm38) |
F28Y |
possibly damaging |
Het |
| Slc28a3 |
C |
T |
13: 58,573,443 (GRCm38) |
|
probably null |
Het |
| Slc8a1 |
A |
G |
17: 81,388,872 (GRCm38) |
F911S |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,682,934 (GRCm38) |
Y1055C |
probably benign |
Het |
| Speg |
T |
A |
1: 75,387,908 (GRCm38) |
L156* |
probably null |
Het |
| Spopl |
T |
G |
2: 23,517,861 (GRCm38) |
M269L |
probably benign |
Het |
| Tacr1 |
C |
T |
6: 82,557,073 (GRCm38) |
T360I |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,449,801 (GRCm38) |
L397* |
probably null |
Het |
| Tmem262 |
A |
G |
19: 6,080,737 (GRCm38) |
E95G |
probably benign |
Het |
| Tmem68 |
G |
T |
4: 3,569,669 (GRCm38) |
T7N |
possibly damaging |
Het |
| Top3a |
T |
A |
11: 60,749,493 (GRCm38) |
I460F |
probably damaging |
Het |
| Trafd1 |
G |
A |
5: 121,384,074 (GRCm38) |
R5* |
probably null |
Het |
| Trim16 |
T |
A |
11: 62,840,869 (GRCm38) |
V435D |
possibly damaging |
Het |
| Tspan17 |
A |
G |
13: 54,796,033 (GRCm38) |
D236G |
probably damaging |
Het |
| Tssk2 |
A |
T |
16: 17,899,701 (GRCm38) |
M323L |
probably benign |
Het |
| Ubqln5 |
A |
G |
7: 104,129,008 (GRCm38) |
V203A |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,693,470 (GRCm38) |
L1134* |
probably null |
Het |
| Vmn1r37 |
C |
T |
6: 66,731,720 (GRCm38) |
S73F |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,927,452 (GRCm38) |
K1688E |
probably damaging |
Het |
| Zbtb39 |
A |
G |
10: 127,741,842 (GRCm38) |
D95G |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 108,800,528 (GRCm38) |
I1019N |
probably damaging |
Het |
| Zfp207 |
C |
T |
11: 80,395,503 (GRCm38) |
|
probably benign |
Het |
| Zmiz1 |
C |
T |
14: 25,643,638 (GRCm38) |
T169M |
probably damaging |
Het |
|
| Other mutations in Cc2d2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Cc2d2a
|
APN |
5 |
43,724,380 (GRCm38) |
splice site |
probably benign |
|
|
IGL00937:Cc2d2a
|
APN |
5 |
43,688,122 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL01322:Cc2d2a
|
APN |
5 |
43,689,003 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01349:Cc2d2a
|
APN |
5 |
43,723,784 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01448:Cc2d2a
|
APN |
5 |
43,684,185 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL01871:Cc2d2a
|
APN |
5 |
43,688,969 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01947:Cc2d2a
|
APN |
5 |
43,688,237 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01976:Cc2d2a
|
APN |
5 |
43,683,115 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02113:Cc2d2a
|
APN |
5 |
43,685,248 (GRCm38) |
splice site |
probably null |
|
|
IGL02364:Cc2d2a
|
APN |
5 |
43,735,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02448:Cc2d2a
|
APN |
5 |
43,683,205 (GRCm38) |
splice site |
probably benign |
|
|
IGL02458:Cc2d2a
|
APN |
5 |
43,718,554 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02542:Cc2d2a
|
APN |
5 |
43,688,910 (GRCm38) |
splice site |
probably benign |
|
|
IGL02834:Cc2d2a
|
APN |
5 |
43,714,521 (GRCm38) |
nonsense |
probably null |
|
|
IGL02940:Cc2d2a
|
APN |
5 |
43,728,294 (GRCm38) |
splice site |
probably null |
|
|
IGL03003:Cc2d2a
|
APN |
5 |
43,671,266 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL03183:Cc2d2a
|
APN |
5 |
43,732,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
C9142:Cc2d2a
|
UTSW |
5 |
43,735,457 (GRCm38) |
splice site |
probably benign |
|
|
P0028:Cc2d2a
|
UTSW |
5 |
43,684,199 (GRCm38) |
missense |
probably benign |
|
|
R0193:Cc2d2a
|
UTSW |
5 |
43,736,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0201:Cc2d2a
|
UTSW |
5 |
43,737,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0211:Cc2d2a
|
UTSW |
5 |
43,688,266 (GRCm38) |
splice site |
probably null |
|
|
R0243:Cc2d2a
|
UTSW |
5 |
43,696,638 (GRCm38) |
splice site |
probably benign |
|
|
R0317:Cc2d2a
|
UTSW |
5 |
43,706,901 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0453:Cc2d2a
|
UTSW |
5 |
43,703,294 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0558:Cc2d2a
|
UTSW |
5 |
43,724,387 (GRCm38) |
splice site |
probably benign |
|
|
R0624:Cc2d2a
|
UTSW |
5 |
43,730,029 (GRCm38) |
missense |
probably benign |
|
|
R0634:Cc2d2a
|
UTSW |
5 |
43,681,381 (GRCm38) |
splice site |
probably benign |
|
|
R1503:Cc2d2a
|
UTSW |
5 |
43,695,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1635:Cc2d2a
|
UTSW |
5 |
43,722,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1686:Cc2d2a
|
UTSW |
5 |
43,739,371 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1707:Cc2d2a
|
UTSW |
5 |
43,723,688 (GRCm38) |
splice site |
probably null |
|
|
R1715:Cc2d2a
|
UTSW |
5 |
43,718,661 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1765:Cc2d2a
|
UTSW |
5 |
43,714,531 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1794:Cc2d2a
|
UTSW |
5 |
43,688,252 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1881:Cc2d2a
|
UTSW |
5 |
43,740,828 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1917:Cc2d2a
|
UTSW |
5 |
43,706,222 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2005:Cc2d2a
|
UTSW |
5 |
43,726,373 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2201:Cc2d2a
|
UTSW |
5 |
43,684,033 (GRCm38) |
splice site |
probably benign |
|
|
R2244:Cc2d2a
|
UTSW |
5 |
43,732,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2368:Cc2d2a
|
UTSW |
5 |
43,703,888 (GRCm38) |
missense |
probably benign |
|
|
R2442:Cc2d2a
|
UTSW |
5 |
43,671,305 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2511:Cc2d2a
|
UTSW |
5 |
43,735,395 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3023:Cc2d2a
|
UTSW |
5 |
43,685,251 (GRCm38) |
splice site |
probably null |
|
|
R3147:Cc2d2a
|
UTSW |
5 |
43,709,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3148:Cc2d2a
|
UTSW |
5 |
43,709,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3426:Cc2d2a
|
UTSW |
5 |
43,736,109 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3609:Cc2d2a
|
UTSW |
5 |
43,712,326 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3610:Cc2d2a
|
UTSW |
5 |
43,712,326 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3611:Cc2d2a
|
UTSW |
5 |
43,712,326 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3839:Cc2d2a
|
UTSW |
5 |
43,718,714 (GRCm38) |
missense |
probably benign |
|
|
R3870:Cc2d2a
|
UTSW |
5 |
43,718,691 (GRCm38) |
nonsense |
probably null |
|
|
R4334:Cc2d2a
|
UTSW |
5 |
43,683,134 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4913:Cc2d2a
|
UTSW |
5 |
43,739,323 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5179:Cc2d2a
|
UTSW |
5 |
43,688,221 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5315:Cc2d2a
|
UTSW |
5 |
43,720,433 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5352:Cc2d2a
|
UTSW |
5 |
43,706,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5386:Cc2d2a
|
UTSW |
5 |
43,730,041 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5538:Cc2d2a
|
UTSW |
5 |
43,695,176 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5568:Cc2d2a
|
UTSW |
5 |
43,709,091 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5618:Cc2d2a
|
UTSW |
5 |
43,729,907 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5653:Cc2d2a
|
UTSW |
5 |
43,722,462 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5817:Cc2d2a
|
UTSW |
5 |
43,712,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5858:Cc2d2a
|
UTSW |
5 |
43,715,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5905:Cc2d2a
|
UTSW |
5 |
43,712,426 (GRCm38) |
missense |
probably benign |
|
|
R5912:Cc2d2a
|
UTSW |
5 |
43,720,430 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6073:Cc2d2a
|
UTSW |
5 |
43,729,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6084:Cc2d2a
|
UTSW |
5 |
43,668,673 (GRCm38) |
missense |
probably benign |
|
|
R6142:Cc2d2a
|
UTSW |
5 |
43,703,198 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6176:Cc2d2a
|
UTSW |
5 |
43,709,113 (GRCm38) |
missense |
probably benign |
0.32 |
|
R6238:Cc2d2a
|
UTSW |
5 |
43,671,235 (GRCm38) |
missense |
probably benign |
0.11 |
|
R6381:Cc2d2a
|
UTSW |
5 |
43,715,776 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6404:Cc2d2a
|
UTSW |
5 |
43,704,074 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R6455:Cc2d2a
|
UTSW |
5 |
43,739,412 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6695:Cc2d2a
|
UTSW |
5 |
43,718,677 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6805:Cc2d2a
|
UTSW |
5 |
43,681,331 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6970:Cc2d2a
|
UTSW |
5 |
43,718,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7024:Cc2d2a
|
UTSW |
5 |
43,733,929 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7054:Cc2d2a
|
UTSW |
5 |
43,699,979 (GRCm38) |
nonsense |
probably null |
|
|
R7071:Cc2d2a
|
UTSW |
5 |
43,709,113 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7098:Cc2d2a
|
UTSW |
5 |
43,683,139 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7366:Cc2d2a
|
UTSW |
5 |
43,729,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7908:Cc2d2a
|
UTSW |
5 |
43,706,846 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7920:Cc2d2a
|
UTSW |
5 |
43,739,309 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7950:Cc2d2a
|
UTSW |
5 |
43,695,296 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8007:Cc2d2a
|
UTSW |
5 |
43,706,100 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8117:Cc2d2a
|
UTSW |
5 |
43,712,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8123:Cc2d2a
|
UTSW |
5 |
43,710,554 (GRCm38) |
missense |
probably benign |
|
|
R8179:Cc2d2a
|
UTSW |
5 |
43,699,953 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8279:Cc2d2a
|
UTSW |
5 |
43,736,145 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8293:Cc2d2a
|
UTSW |
5 |
43,688,228 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8480:Cc2d2a
|
UTSW |
5 |
43,685,144 (GRCm38) |
splice site |
probably null |
|
|
R8482:Cc2d2a
|
UTSW |
5 |
43,695,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8731:Cc2d2a
|
UTSW |
5 |
43,735,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8780:Cc2d2a
|
UTSW |
5 |
43,739,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8784:Cc2d2a
|
UTSW |
5 |
43,703,303 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8871:Cc2d2a
|
UTSW |
5 |
43,699,943 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8972:Cc2d2a
|
UTSW |
5 |
43,710,542 (GRCm38) |
missense |
probably benign |
|
|
R9122:Cc2d2a
|
UTSW |
5 |
43,673,739 (GRCm38) |
missense |
probably null |
0.07 |
|
R9125:Cc2d2a
|
UTSW |
5 |
43,703,221 (GRCm38) |
missense |
probably benign |
|
|
R9203:Cc2d2a
|
UTSW |
5 |
43,733,837 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9310:Cc2d2a
|
UTSW |
5 |
43,695,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9343:Cc2d2a
|
UTSW |
5 |
43,718,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9353:Cc2d2a
|
UTSW |
5 |
43,703,349 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1177:Cc2d2a
|
UTSW |
5 |
43,703,204 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGGCTAGTTTCTTAACTGTCTG -3'
(R):5'- TCAGGGGTTTGCCTTCCAAG -3'
Sequencing Primer
(F):5'- AACTGTCTGTGTTAATGTCTCTTCAG -3'
(R):5'- TTCCAAGGCCCTCCCTAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation