Incidental Mutation 'R0211:Cc2d2a'
| ID |
35517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d2a
|
| Ensembl Gene |
ENSMUSG00000039765 |
| Gene Name |
coiled-coil and C2 domain containing 2A |
| Synonyms |
b2b1035Clo, 5730509K17Rik |
| MMRRC Submission |
038462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
R0211 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
43819715-43898317 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 43845608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048150]
[ENSMUST00000125866]
[ENSMUST00000125866]
|
| AlphaFold |
Q8CFW7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048150
|
| SMART Domains |
Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
| 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 null
Transcript: ENSMUST00000125866
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125866
|
| SMART Domains |
Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142303
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156034
|
| SMART Domains |
Protein: ENSMUSP00000118705
Gene: ENSMUSG00000039765
| 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 |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.0%
- 10x: 94.6%
- 20x: 89.0%
|
| Validation Efficiency |
100% (1/1) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,262,870 (GRCm39) |
L1401P |
possibly damaging |
Het |
| 4930503B20Rik |
C |
T |
3: 146,356,251 (GRCm39) |
R219H |
probably benign |
Het |
| Abcc9 |
T |
A |
6: 142,634,710 (GRCm39) |
I185F |
probably benign |
Het |
| Adgrf1 |
T |
C |
17: 43,607,581 (GRCm39) |
L100P |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,621,576 (GRCm39) |
T407A |
probably damaging |
Het |
| Alk |
C |
T |
17: 72,910,511 (GRCm39) |
R65H |
probably damaging |
Het |
| Aplp2 |
T |
C |
9: 31,069,086 (GRCm39) |
E525G |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,883,300 (GRCm39) |
R1411C |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,383,460 (GRCm39) |
M242K |
probably damaging |
Het |
| Atad5 |
T |
G |
11: 79,986,473 (GRCm39) |
V520G |
probably benign |
Het |
| Avpr1a |
T |
A |
10: 122,285,374 (GRCm39) |
M222K |
possibly damaging |
Het |
| Cbr2 |
T |
A |
11: 120,621,614 (GRCm39) |
I88L |
probably benign |
Het |
| Ccdc51 |
T |
C |
9: 108,918,441 (GRCm39) |
M10T |
probably benign |
Het |
| Cntnap5b |
T |
A |
1: 100,406,099 (GRCm39) |
D1136E |
possibly damaging |
Het |
| Coil |
T |
A |
11: 88,872,979 (GRCm39) |
S447T |
probably damaging |
Het |
| Cryba1 |
T |
A |
11: 77,609,693 (GRCm39) |
Y179F |
probably damaging |
Het |
| Dcaf4 |
T |
A |
12: 83,582,735 (GRCm39) |
F277I |
probably damaging |
Het |
| Ddost |
G |
A |
4: 138,036,913 (GRCm39) |
V159M |
probably damaging |
Het |
| Dnaaf4 |
A |
T |
9: 72,868,649 (GRCm39) |
R127S |
possibly damaging |
Het |
| Dnajb6 |
T |
C |
5: 29,990,077 (GRCm39) |
|
probably benign |
Het |
| Dnase2a |
A |
G |
8: 85,635,417 (GRCm39) |
|
probably benign |
Het |
| Dscam |
T |
C |
16: 96,517,279 (GRCm39) |
I877V |
possibly damaging |
Het |
| Efcc1 |
A |
T |
6: 87,726,136 (GRCm39) |
T312S |
probably benign |
Het |
| Elp1 |
T |
A |
4: 56,795,545 (GRCm39) |
I143F |
probably damaging |
Het |
| Ermard |
A |
T |
17: 15,242,205 (GRCm39) |
Q127L |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,460,503 (GRCm39) |
E329G |
probably damaging |
Het |
| Foxc2 |
T |
A |
8: 121,843,355 (GRCm39) |
M1K |
probably null |
Het |
| Fuz |
T |
A |
7: 44,548,446 (GRCm39) |
|
probably null |
Het |
| Ggnbp2 |
G |
A |
11: 84,731,139 (GRCm39) |
T325M |
probably damaging |
Het |
| Gm6408 |
T |
A |
5: 146,419,870 (GRCm39) |
F115I |
probably benign |
Het |
| Gp6 |
C |
T |
7: 4,376,208 (GRCm39) |
|
probably null |
Het |
| Grin2a |
A |
G |
16: 9,397,037 (GRCm39) |
S1017P |
possibly damaging |
Het |
| H2-T5 |
T |
C |
17: 36,478,899 (GRCm39) |
T117A |
probably damaging |
Het |
| Hmmr |
A |
T |
11: 40,605,635 (GRCm39) |
M318K |
probably damaging |
Het |
| Ifi205 |
T |
C |
1: 173,855,994 (GRCm39) |
E12G |
probably benign |
Het |
| Ift74 |
C |
T |
4: 94,567,492 (GRCm39) |
T395I |
probably benign |
Het |
| Irf8 |
A |
T |
8: 121,466,714 (GRCm39) |
D53V |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,803,813 (GRCm39) |
Y69C |
probably damaging |
Het |
| Itpr2 |
C |
A |
6: 146,096,111 (GRCm39) |
R2084L |
probably benign |
Het |
| Krt4 |
C |
A |
15: 101,831,217 (GRCm39) |
S228I |
possibly damaging |
Het |
| Lpin3 |
A |
T |
2: 160,740,601 (GRCm39) |
D382V |
probably damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,802,171 (GRCm39) |
|
probably null |
Het |
| Map4k3 |
C |
T |
17: 80,952,270 (GRCm39) |
A179T |
probably damaging |
Het |
| Nck1 |
A |
T |
9: 100,379,820 (GRCm39) |
W144R |
probably damaging |
Het |
| Ndufb9 |
A |
T |
15: 58,811,131 (GRCm39) |
Q139L |
possibly damaging |
Het |
| Ngfr |
T |
G |
11: 95,462,738 (GRCm39) |
E300A |
probably damaging |
Het |
| Nin |
T |
G |
12: 70,061,649 (GRCm39) |
T2072P |
probably damaging |
Het |
| Nop2 |
T |
G |
6: 125,118,307 (GRCm39) |
L529R |
probably damaging |
Het |
| Nrm |
T |
A |
17: 36,175,503 (GRCm39) |
L203Q |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,109,255 (GRCm39) |
F1454S |
probably benign |
Het |
| Or10ak7 |
T |
A |
4: 118,791,467 (GRCm39) |
M191L |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,646 (GRCm39) |
T16A |
possibly damaging |
Het |
| Or8j3c |
A |
C |
2: 86,253,451 (GRCm39) |
S190A |
probably damaging |
Het |
| Os9 |
A |
G |
10: 126,956,905 (GRCm39) |
V27A |
probably damaging |
Het |
| Osbpl9 |
T |
G |
4: 108,930,321 (GRCm39) |
T332P |
probably damaging |
Het |
| Pcdhb10 |
A |
T |
18: 37,547,059 (GRCm39) |
M712L |
probably benign |
Het |
| Pcx |
C |
T |
19: 4,670,227 (GRCm39) |
A935V |
probably damaging |
Het |
| Pdzd7 |
A |
G |
19: 45,022,106 (GRCm39) |
V514A |
possibly damaging |
Het |
| Plin4 |
C |
T |
17: 56,409,242 (GRCm39) |
G1326D |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,932,731 (GRCm39) |
Y568* |
probably null |
Het |
| Pmfbp1 |
T |
A |
8: 110,268,372 (GRCm39) |
V973D |
probably benign |
Het |
| Ppp2r1b |
T |
C |
9: 50,772,925 (GRCm39) |
V70A |
probably benign |
Het |
| Prkar2b |
C |
A |
12: 32,022,183 (GRCm39) |
V201L |
probably benign |
Het |
| Rgr |
T |
G |
14: 36,768,925 (GRCm39) |
T37P |
probably damaging |
Het |
| Ripk3 |
A |
T |
14: 56,025,375 (GRCm39) |
L63Q |
probably damaging |
Het |
| Rpusd2 |
A |
G |
2: 118,868,893 (GRCm39) |
S439G |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,100,335 (GRCm39) |
R438S |
possibly damaging |
Het |
| Slc19a1 |
T |
A |
10: 76,874,300 (GRCm39) |
S24T |
possibly damaging |
Het |
| Slc6a21 |
A |
C |
7: 44,937,667 (GRCm39) |
T653P |
possibly damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spdef |
C |
T |
17: 27,933,894 (GRCm39) |
R309H |
probably damaging |
Het |
| Srp68 |
A |
T |
11: 116,156,377 (GRCm39) |
Y84N |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,144,731 (GRCm39) |
Q6299L |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,972,839 (GRCm39) |
M652L |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tnk1 |
A |
G |
11: 69,746,007 (GRCm39) |
V306A |
probably damaging |
Het |
| Tnnc2 |
T |
A |
2: 164,619,404 (GRCm39) |
I147F |
probably damaging |
Het |
| Tnni3k |
C |
T |
3: 154,760,981 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
A |
17: 72,036,243 (GRCm39) |
V911D |
probably damaging |
Het |
| Tyw3 |
T |
C |
3: 154,293,132 (GRCm39) |
N181S |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,039,051 (GRCm39) |
S682T |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,841,348 (GRCm39) |
L2634S |
probably benign |
Het |
| Wasl |
G |
T |
6: 24,633,892 (GRCm39) |
A124E |
probably damaging |
Het |
| Zfp287 |
T |
C |
11: 62,605,743 (GRCm39) |
H388R |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,749,612 (GRCm39) |
T262A |
probably damaging |
Het |
| Zfp457 |
C |
G |
13: 67,441,211 (GRCm39) |
G359R |
probably benign |
Het |
| Zfp536 |
T |
A |
7: 37,267,874 (GRCm39) |
E514V |
probably damaging |
Het |
| Zfp872 |
T |
A |
9: 22,111,469 (GRCm39) |
I316N |
probably damaging |
Het |
|
| Other mutations in Cc2d2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Cc2d2a
|
APN |
5 |
43,881,722 (GRCm39) |
splice site |
probably benign |
|
|
IGL00937:Cc2d2a
|
APN |
5 |
43,845,464 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01322:Cc2d2a
|
APN |
5 |
43,846,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01349:Cc2d2a
|
APN |
5 |
43,881,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01448:Cc2d2a
|
APN |
5 |
43,841,527 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01871:Cc2d2a
|
APN |
5 |
43,846,311 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01947:Cc2d2a
|
APN |
5 |
43,845,579 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01976:Cc2d2a
|
APN |
5 |
43,840,457 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02113:Cc2d2a
|
APN |
5 |
43,842,590 (GRCm39) |
splice site |
probably null |
|
|
IGL02364:Cc2d2a
|
APN |
5 |
43,892,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02448:Cc2d2a
|
APN |
5 |
43,840,547 (GRCm39) |
splice site |
probably benign |
|
|
IGL02458:Cc2d2a
|
APN |
5 |
43,875,896 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02542:Cc2d2a
|
APN |
5 |
43,846,252 (GRCm39) |
splice site |
probably benign |
|
|
IGL02834:Cc2d2a
|
APN |
5 |
43,871,863 (GRCm39) |
nonsense |
probably null |
|
|
IGL02940:Cc2d2a
|
APN |
5 |
43,885,636 (GRCm39) |
splice site |
probably null |
|
|
IGL03003:Cc2d2a
|
APN |
5 |
43,828,608 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03183:Cc2d2a
|
APN |
5 |
43,889,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
C9142:Cc2d2a
|
UTSW |
5 |
43,892,799 (GRCm39) |
splice site |
probably benign |
|
|
P0028:Cc2d2a
|
UTSW |
5 |
43,841,541 (GRCm39) |
missense |
probably benign |
|
|
R0193:Cc2d2a
|
UTSW |
5 |
43,893,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0201:Cc2d2a
|
UTSW |
5 |
43,894,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Cc2d2a
|
UTSW |
5 |
43,853,980 (GRCm39) |
splice site |
probably benign |
|
|
R0317:Cc2d2a
|
UTSW |
5 |
43,864,243 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0453:Cc2d2a
|
UTSW |
5 |
43,860,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0558:Cc2d2a
|
UTSW |
5 |
43,881,729 (GRCm39) |
splice site |
probably benign |
|
|
R0624:Cc2d2a
|
UTSW |
5 |
43,887,371 (GRCm39) |
missense |
probably benign |
|
|
R0634:Cc2d2a
|
UTSW |
5 |
43,838,723 (GRCm39) |
splice site |
probably benign |
|
|
R1503:Cc2d2a
|
UTSW |
5 |
43,852,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Cc2d2a
|
UTSW |
5 |
43,879,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Cc2d2a
|
UTSW |
5 |
43,896,713 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1707:Cc2d2a
|
UTSW |
5 |
43,881,030 (GRCm39) |
splice site |
probably null |
|
|
R1715:Cc2d2a
|
UTSW |
5 |
43,876,003 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1765:Cc2d2a
|
UTSW |
5 |
43,871,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1794:Cc2d2a
|
UTSW |
5 |
43,845,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Cc2d2a
|
UTSW |
5 |
43,898,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1917:Cc2d2a
|
UTSW |
5 |
43,863,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Cc2d2a
|
UTSW |
5 |
43,883,715 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2201:Cc2d2a
|
UTSW |
5 |
43,841,375 (GRCm39) |
splice site |
probably benign |
|
|
R2244:Cc2d2a
|
UTSW |
5 |
43,889,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2368:Cc2d2a
|
UTSW |
5 |
43,861,230 (GRCm39) |
missense |
probably benign |
|
|
R2442:Cc2d2a
|
UTSW |
5 |
43,828,647 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2511:Cc2d2a
|
UTSW |
5 |
43,892,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3023:Cc2d2a
|
UTSW |
5 |
43,842,593 (GRCm39) |
splice site |
probably null |
|
|
R3147:Cc2d2a
|
UTSW |
5 |
43,866,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3148:Cc2d2a
|
UTSW |
5 |
43,866,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3426:Cc2d2a
|
UTSW |
5 |
43,893,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3609:Cc2d2a
|
UTSW |
5 |
43,869,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3610:Cc2d2a
|
UTSW |
5 |
43,869,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3611:Cc2d2a
|
UTSW |
5 |
43,869,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3839:Cc2d2a
|
UTSW |
5 |
43,876,056 (GRCm39) |
missense |
probably benign |
|
|
R3870:Cc2d2a
|
UTSW |
5 |
43,876,033 (GRCm39) |
nonsense |
probably null |
|
|
R4334:Cc2d2a
|
UTSW |
5 |
43,840,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4913:Cc2d2a
|
UTSW |
5 |
43,896,665 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5179:Cc2d2a
|
UTSW |
5 |
43,845,563 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5315:Cc2d2a
|
UTSW |
5 |
43,877,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5352:Cc2d2a
|
UTSW |
5 |
43,863,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Cc2d2a
|
UTSW |
5 |
43,887,383 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5538:Cc2d2a
|
UTSW |
5 |
43,852,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5568:Cc2d2a
|
UTSW |
5 |
43,866,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5618:Cc2d2a
|
UTSW |
5 |
43,887,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5653:Cc2d2a
|
UTSW |
5 |
43,879,804 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5817:Cc2d2a
|
UTSW |
5 |
43,869,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Cc2d2a
|
UTSW |
5 |
43,873,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5905:Cc2d2a
|
UTSW |
5 |
43,869,768 (GRCm39) |
missense |
probably benign |
|
|
R5912:Cc2d2a
|
UTSW |
5 |
43,877,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6073:Cc2d2a
|
UTSW |
5 |
43,887,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Cc2d2a
|
UTSW |
5 |
43,826,015 (GRCm39) |
missense |
probably benign |
|
|
R6142:Cc2d2a
|
UTSW |
5 |
43,860,540 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6176:Cc2d2a
|
UTSW |
5 |
43,866,455 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6238:Cc2d2a
|
UTSW |
5 |
43,828,577 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6381:Cc2d2a
|
UTSW |
5 |
43,873,118 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6404:Cc2d2a
|
UTSW |
5 |
43,861,416 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6455:Cc2d2a
|
UTSW |
5 |
43,896,754 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6695:Cc2d2a
|
UTSW |
5 |
43,876,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6805:Cc2d2a
|
UTSW |
5 |
43,838,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Cc2d2a
|
UTSW |
5 |
43,860,557 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6970:Cc2d2a
|
UTSW |
5 |
43,875,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7024:Cc2d2a
|
UTSW |
5 |
43,891,271 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7054:Cc2d2a
|
UTSW |
5 |
43,857,321 (GRCm39) |
nonsense |
probably null |
|
|
R7071:Cc2d2a
|
UTSW |
5 |
43,866,455 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7098:Cc2d2a
|
UTSW |
5 |
43,840,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7366:Cc2d2a
|
UTSW |
5 |
43,887,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7908:Cc2d2a
|
UTSW |
5 |
43,864,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7920:Cc2d2a
|
UTSW |
5 |
43,896,651 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7950:Cc2d2a
|
UTSW |
5 |
43,852,638 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8007:Cc2d2a
|
UTSW |
5 |
43,863,442 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8117:Cc2d2a
|
UTSW |
5 |
43,869,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8123:Cc2d2a
|
UTSW |
5 |
43,867,896 (GRCm39) |
missense |
probably benign |
|
|
R8179:Cc2d2a
|
UTSW |
5 |
43,857,295 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8279:Cc2d2a
|
UTSW |
5 |
43,893,487 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8293:Cc2d2a
|
UTSW |
5 |
43,845,570 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8480:Cc2d2a
|
UTSW |
5 |
43,842,486 (GRCm39) |
splice site |
probably null |
|
|
R8482:Cc2d2a
|
UTSW |
5 |
43,852,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8731:Cc2d2a
|
UTSW |
5 |
43,892,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8780:Cc2d2a
|
UTSW |
5 |
43,896,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8784:Cc2d2a
|
UTSW |
5 |
43,860,645 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8871:Cc2d2a
|
UTSW |
5 |
43,857,285 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8972:Cc2d2a
|
UTSW |
5 |
43,867,884 (GRCm39) |
missense |
probably benign |
|
|
R9122:Cc2d2a
|
UTSW |
5 |
43,831,081 (GRCm39) |
missense |
probably null |
0.07 |
|
R9125:Cc2d2a
|
UTSW |
5 |
43,860,563 (GRCm39) |
missense |
probably benign |
|
|
R9203:Cc2d2a
|
UTSW |
5 |
43,891,179 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9310:Cc2d2a
|
UTSW |
5 |
43,852,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Cc2d2a
|
UTSW |
5 |
43,875,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9353:Cc2d2a
|
UTSW |
5 |
43,860,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Cc2d2a
|
UTSW |
5 |
43,860,546 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGCTGGTACTCATGTCCATGC -3'
(R):5'- TGTCACCTTGGGCTCTTGAAGAAC -3'
Sequencing Primer
(F):5'- ACAGCCAAGATTCCTGGAAG -3'
(R):5'- tccaggacagcaccaatatac -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation