Incidental Mutation 'R7098:Cc2d2a'
| ID |
550626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
045190-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.914)
|
| Stock # |
R7098 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43662346-43740972 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43683139 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 161
(T161S)
|
| 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: T161S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: T161S
| 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: T112S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: T112S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (78/78) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,646,522 (GRCm38) |
M223K |
probably benign |
Het |
| Abce1 |
T |
C |
8: 79,686,049 (GRCm38) |
T550A |
probably benign |
Het |
| Acoxl |
C |
T |
2: 127,854,915 (GRCm38) |
Q28* |
probably null |
Het |
| Adam8 |
T |
C |
7: 139,979,499 (GRCm38) |
K820R |
possibly damaging |
Het |
| Adamts3 |
G |
T |
5: 89,861,495 (GRCm38) |
A103D |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,736,948 (GRCm38) |
V441D |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,675,950 (GRCm38) |
|
probably null |
Het |
| Arhgef10l |
T |
A |
4: 140,580,911 (GRCm38) |
M44L |
probably benign |
Het |
| Asb4 |
T |
C |
6: 5,398,499 (GRCm38) |
C155R |
probably damaging |
Het |
| Bpifb6 |
A |
T |
2: 153,906,890 (GRCm38) |
K269* |
probably null |
Het |
| Ccdc15 |
T |
A |
9: 37,343,960 (GRCm38) |
Q98L |
probably damaging |
Het |
| Col19a1 |
A |
G |
1: 24,526,474 (GRCm38) |
S259P |
unknown |
Het |
| Col5a2 |
A |
T |
1: 45,380,067 (GRCm38) |
D1284E |
possibly damaging |
Het |
| Cyp2c70 |
T |
C |
19: 40,180,487 (GRCm38) |
T119A |
probably benign |
Het |
| Dennd6b |
C |
T |
15: 89,188,687 (GRCm38) |
C188Y |
probably damaging |
Het |
| Dhx8 |
T |
A |
11: 101,737,768 (GRCm38) |
|
probably null |
Het |
| Dhx9 |
T |
C |
1: 153,465,022 (GRCm38) |
K624R |
probably benign |
Het |
| Dpys |
C |
T |
15: 39,793,331 (GRCm38) |
V447M |
probably damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,753,004 (GRCm38) |
S706P |
possibly damaging |
Het |
| Esrrb |
A |
G |
12: 86,470,415 (GRCm38) |
D107G |
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,572,433 (GRCm38) |
S367P |
probably damaging |
Het |
| Garin2 |
G |
A |
12: 78,719,634 (GRCm38) |
|
probably null |
Het |
| Gdi1 |
G |
A |
X: 74,306,855 (GRCm38) |
R55H |
probably benign |
Het |
| Gm136 |
T |
C |
4: 34,746,628 (GRCm38) |
I128V |
probably benign |
Het |
| Gm6525 |
T |
A |
3: 84,175,002 (GRCm38) |
C77S |
possibly damaging |
Het |
| Grid2ip |
T |
C |
5: 143,357,591 (GRCm38) |
F14S |
probably damaging |
Het |
| Hdhd3 |
C |
T |
4: 62,499,915 (GRCm38) |
R8H |
probably damaging |
Het |
| Kdelr1 |
C |
A |
7: 45,874,056 (GRCm38) |
A69D |
possibly damaging |
Het |
| Krtap16-3 |
T |
A |
16: 88,962,672 (GRCm38) |
Y51F |
unknown |
Het |
| Lrrc40 |
T |
A |
3: 158,041,639 (GRCm38) |
N129K |
probably benign |
Het |
| Man1b1 |
T |
A |
2: 25,338,184 (GRCm38) |
D155E |
probably damaging |
Het |
| Mcm5 |
T |
C |
8: 75,120,901 (GRCm38) |
V442A |
probably damaging |
Het |
| Mfsd14a |
C |
T |
3: 116,641,712 (GRCm38) |
A235T |
probably benign |
Het |
| Mmp1a |
C |
A |
9: 7,475,937 (GRCm38) |
T401K |
probably benign |
Het |
| Mpig6b |
C |
T |
17: 35,064,344 (GRCm38) |
R196Q |
unknown |
Het |
| Mroh1 |
C |
T |
15: 76,408,457 (GRCm38) |
Q262* |
probably null |
Het |
| Msh3 |
A |
T |
13: 92,274,111 (GRCm38) |
D656E |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,757,091 (GRCm38) |
T252S |
|
Het |
| Myh15 |
C |
T |
16: 49,177,057 (GRCm38) |
A1746V |
possibly damaging |
Het |
| Myh8 |
C |
A |
11: 67,279,053 (GRCm38) |
T66K |
probably benign |
Het |
| Nemf |
A |
T |
12: 69,312,467 (GRCm38) |
Y999N |
probably damaging |
Het |
| Neurod1 |
T |
C |
2: 79,454,685 (GRCm38) |
N118S |
probably damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,218,274 (GRCm38) |
I134L |
possibly damaging |
Het |
| Nsun7 |
A |
T |
5: 66,260,983 (GRCm38) |
I19F |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,003,966 (GRCm38) |
|
probably null |
Het |
| P2rx7 |
A |
G |
5: 122,673,793 (GRCm38) |
E389G |
probably damaging |
Het |
| Pam |
C |
T |
1: 97,898,347 (GRCm38) |
R194H |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,384,839 (GRCm38) |
S2052P |
probably benign |
Het |
| Pfkfb4 |
T |
A |
9: 108,999,154 (GRCm38) |
Y86N |
probably benign |
Het |
| Plcd3 |
T |
A |
11: 103,077,863 (GRCm38) |
D334V |
probably damaging |
Het |
| Ppard |
T |
C |
17: 28,298,813 (GRCm38) |
V285A |
possibly damaging |
Het |
| Prune2 |
A |
G |
19: 17,120,602 (GRCm38) |
S1157G |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,652,545 (GRCm38) |
L172H |
probably damaging |
Het |
| Psme4 |
C |
A |
11: 30,850,661 (GRCm38) |
T1417K |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,099,685 (GRCm38) |
D336G |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,790,310 (GRCm38) |
|
probably null |
Het |
| Rap1gap |
C |
A |
4: 137,716,082 (GRCm38) |
|
probably null |
Het |
| Scap |
T |
C |
9: 110,372,242 (GRCm38) |
S100P |
possibly damaging |
Het |
| Scpep1 |
T |
C |
11: 88,929,185 (GRCm38) |
I426V |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,096,870 (GRCm38) |
I1341T |
probably damaging |
Het |
| Sfmbt2 |
T |
A |
2: 10,579,189 (GRCm38) |
Y786N |
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,702,014 (GRCm38) |
|
probably null |
Het |
| Slc5a5 |
T |
A |
8: 70,888,538 (GRCm38) |
I386F |
probably damaging |
Het |
| Smarca4 |
T |
G |
9: 21,634,820 (GRCm38) |
M98R |
probably benign |
Het |
| St18 |
G |
A |
1: 6,827,842 (GRCm38) |
D623N |
probably damaging |
Het |
| Sult2a1 |
A |
T |
7: 13,816,053 (GRCm38) |
|
probably null |
Het |
| Tgfb2 |
C |
T |
1: 186,630,637 (GRCm38) |
R330H |
probably damaging |
Het |
| Thoc3 |
A |
G |
13: 54,466,306 (GRCm38) |
I168T |
probably damaging |
Het |
| Tmem126a |
C |
T |
7: 90,450,854 (GRCm38) |
M160I |
possibly damaging |
Het |
| Tmem200b |
C |
T |
4: 131,922,393 (GRCm38) |
P208L |
probably benign |
Het |
| Tnrc6c |
T |
C |
11: 117,714,126 (GRCm38) |
V29A |
probably benign |
Het |
| Tsc1 |
C |
T |
2: 28,675,732 (GRCm38) |
S465F |
probably benign |
Het |
| Ttll5 |
A |
G |
12: 85,917,673 (GRCm38) |
|
probably null |
Het |
| Unc13d |
G |
T |
11: 116,063,726 (GRCm38) |
L1019I |
probably damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,694,408 (GRCm38) |
H745L |
probably damaging |
Het |
| Wars2 |
T |
G |
3: 99,216,641 (GRCm38) |
S273A |
probably damaging |
Het |
| Xrcc6 |
C |
A |
15: 82,035,754 (GRCm38) |
S498* |
probably null |
Het |
| Ybx1 |
A |
T |
4: 119,282,853 (GRCm38) |
N92K |
possibly 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 |
|
R6919:Cc2d2a
|
UTSW |
5 |
43,703,215 (GRCm38) |
missense |
probably benign |
0.19 |
|
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 |
|
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'- TCCAGAGGTCAACAATCTGGTC -3'
(R):5'- ATCTCACCTCCAGGACTTTAAAAG -3'
Sequencing Primer
(F):5'- GAGGTCAACAATCTGGTCTAGACTC -3'
(R):5'- CCTCCAGGACTTTAAAAGTAGAAATC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation