Incidental Mutation 'R1834:Cttnbp2'
ID |
205041 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cttnbp2
|
Ensembl Gene |
ENSMUSG00000000416 |
Gene Name |
cortactin binding protein 2 |
Synonyms |
ORF4, Cortbp2, 4732477G22Rik, 9130022E09Rik, 3010022N24Rik |
MMRRC Submission |
039861-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1834 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
18366477-18514842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 18501965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 16
(V16M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122590
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090601]
[ENSMUST00000129669]
[ENSMUST00000142963]
[ENSMUST00000148602]
|
AlphaFold |
B9EJA2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090601
AA Change: V58M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000088089 Gene: ENSMUSG00000000416 AA Change: V58M
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
Pfam:CortBP2
|
32 |
138 |
3.1e-34 |
PFAM |
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
low complexity region
|
255 |
270 |
N/A |
INTRINSIC |
low complexity region
|
393 |
415 |
N/A |
INTRINSIC |
low complexity region
|
539 |
547 |
N/A |
INTRINSIC |
low complexity region
|
594 |
606 |
N/A |
INTRINSIC |
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
ANK
|
699 |
729 |
5.21e1 |
SMART |
ANK
|
733 |
762 |
7.02e-5 |
SMART |
ANK
|
766 |
795 |
6.55e-5 |
SMART |
ANK
|
799 |
828 |
4.1e-6 |
SMART |
ANK
|
832 |
861 |
1.09e-1 |
SMART |
ANK
|
901 |
931 |
4.43e-2 |
SMART |
Blast:AAA
|
1108 |
1285 |
1e-18 |
BLAST |
low complexity region
|
1609 |
1623 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129669
AA Change: V16M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000116878 Gene: ENSMUSG00000000416 AA Change: V16M
Domain | Start | End | E-Value | Type |
Pfam:CortBP2
|
1 |
100 |
4.6e-44 |
PFAM |
Pfam:CortBP2
|
92 |
138 |
3.2e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140416
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142963
AA Change: V16M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122590 Gene: ENSMUSG00000000416 AA Change: V16M
Domain | Start | End | E-Value | Type |
Pfam:CortBP2
|
1 |
94 |
1.8e-43 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148602
AA Change: V58M
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000118432 Gene: ENSMUSG00000000416 AA Change: V58M
Domain | Start | End | E-Value | Type |
Pfam:CortBP2
|
26 |
138 |
4.3e-50 |
PFAM |
Pfam:CortBP2
|
134 |
180 |
1.3e-12 |
PFAM |
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
low complexity region
|
255 |
270 |
N/A |
INTRINSIC |
low complexity region
|
393 |
415 |
N/A |
INTRINSIC |
low complexity region
|
539 |
547 |
N/A |
INTRINSIC |
low complexity region
|
594 |
606 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.0%
|
Validation Efficiency |
97% (116/119) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 114 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310033P09Rik |
A |
G |
11: 59,099,313 (GRCm39) |
D20G |
probably damaging |
Het |
2310061N02Rik |
T |
A |
16: 88,504,786 (GRCm39) |
S4C |
unknown |
Het |
Abca3 |
A |
T |
17: 24,595,666 (GRCm39) |
N340Y |
probably benign |
Het |
Abcc1 |
A |
G |
16: 14,240,981 (GRCm39) |
I513V |
possibly damaging |
Het |
Acacb |
C |
T |
5: 114,373,536 (GRCm39) |
T1855M |
probably damaging |
Het |
Ace |
A |
G |
11: 105,876,920 (GRCm39) |
|
probably benign |
Het |
Acss2 |
T |
A |
2: 155,400,550 (GRCm39) |
Y530N |
probably damaging |
Het |
Adarb1 |
C |
A |
10: 77,153,065 (GRCm39) |
|
probably benign |
Het |
Afm |
T |
A |
5: 90,674,283 (GRCm39) |
M265K |
probably benign |
Het |
Agl |
A |
G |
3: 116,582,000 (GRCm39) |
F293S |
probably benign |
Het |
Aox1 |
G |
A |
1: 58,348,150 (GRCm39) |
A623T |
probably benign |
Het |
Arhgap31 |
C |
A |
16: 38,424,065 (GRCm39) |
S667I |
probably benign |
Het |
Bco1 |
A |
G |
8: 117,844,176 (GRCm39) |
T297A |
probably benign |
Het |
Bmp1 |
T |
C |
14: 70,746,271 (GRCm39) |
S123G |
possibly damaging |
Het |
Caps2 |
G |
A |
10: 112,031,623 (GRCm39) |
D283N |
possibly damaging |
Het |
Ccdc57 |
A |
C |
11: 120,752,045 (GRCm39) |
S845R |
probably benign |
Het |
Cd209f |
A |
G |
8: 4,154,491 (GRCm39) |
S119P |
probably damaging |
Het |
Chrna6 |
A |
G |
8: 27,897,242 (GRCm39) |
S212P |
probably benign |
Het |
Col10a1 |
G |
C |
10: 34,271,011 (GRCm39) |
A328P |
probably damaging |
Het |
Col4a2 |
A |
G |
8: 11,452,997 (GRCm39) |
E188G |
probably benign |
Het |
Creb1 |
C |
T |
1: 64,590,109 (GRCm39) |
Q32* |
probably null |
Het |
D430041D05Rik |
A |
G |
2: 103,998,446 (GRCm39) |
S1102P |
probably damaging |
Het |
Ddx31 |
C |
T |
2: 28,782,465 (GRCm39) |
H603Y |
probably damaging |
Het |
Ddx52 |
G |
A |
11: 83,850,323 (GRCm39) |
C568Y |
probably benign |
Het |
Dgki |
C |
A |
6: 37,011,636 (GRCm39) |
|
probably benign |
Het |
Dmrt1 |
A |
T |
19: 25,487,063 (GRCm39) |
Q123L |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,409,270 (GRCm39) |
M3563L |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,272,919 (GRCm39) |
N2349I |
possibly damaging |
Het |
Dscaml1 |
T |
G |
9: 45,594,930 (GRCm39) |
S678A |
probably benign |
Het |
Ece1 |
C |
T |
4: 137,685,312 (GRCm39) |
R601W |
probably damaging |
Het |
Ece1 |
A |
G |
4: 137,685,439 (GRCm39) |
N643S |
probably damaging |
Het |
Eno1b |
A |
G |
18: 48,180,530 (GRCm39) |
Y236C |
probably damaging |
Het |
Esco1 |
T |
C |
18: 10,594,350 (GRCm39) |
E312G |
probably damaging |
Het |
Eya3 |
T |
A |
4: 132,434,429 (GRCm39) |
V276E |
probably damaging |
Het |
Fam161b |
A |
G |
12: 84,395,552 (GRCm39) |
|
probably benign |
Het |
Fem1c |
C |
T |
18: 46,638,349 (GRCm39) |
G551D |
probably damaging |
Het |
Fer1l6 |
T |
C |
15: 58,429,718 (GRCm39) |
I155T |
possibly damaging |
Het |
Gbp7 |
A |
G |
3: 142,240,441 (GRCm39) |
Y53C |
probably damaging |
Het |
Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
Gm10030 |
C |
T |
9: 110,833,947 (GRCm39) |
|
noncoding transcript |
Het |
Gm3443 |
T |
A |
19: 21,533,043 (GRCm39) |
H2Q |
unknown |
Het |
Gm5800 |
T |
C |
14: 51,953,549 (GRCm39) |
E22G |
possibly damaging |
Het |
Gsdma2 |
G |
T |
11: 98,539,905 (GRCm39) |
R9L |
probably damaging |
Het |
Gvin3 |
A |
T |
7: 106,202,983 (GRCm39) |
V87D |
possibly damaging |
Het |
Ica1l |
A |
G |
1: 60,067,395 (GRCm39) |
|
probably benign |
Het |
Ice1 |
G |
A |
13: 70,763,457 (GRCm39) |
T167I |
probably damaging |
Het |
Ifi204 |
T |
A |
1: 173,575,172 (GRCm39) |
R618S |
unknown |
Het |
Itga2 |
C |
A |
13: 114,993,262 (GRCm39) |
K784N |
probably damaging |
Het |
Itga2 |
T |
A |
13: 114,993,263 (GRCm39) |
K784M |
probably damaging |
Het |
Kif3b |
A |
G |
2: 153,159,405 (GRCm39) |
E402G |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,297,224 (GRCm39) |
I3246V |
probably benign |
Het |
Lrrn3 |
G |
T |
12: 41,503,517 (GRCm39) |
L267I |
probably damaging |
Het |
Map1s |
A |
G |
8: 71,369,055 (GRCm39) |
Y868C |
probably damaging |
Het |
Mcm5 |
A |
G |
8: 75,845,901 (GRCm39) |
T370A |
possibly damaging |
Het |
Nat8f7 |
T |
C |
6: 85,684,793 (GRCm39) |
S16G |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,555,883 (GRCm39) |
T1683A |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,456,197 (GRCm39) |
N2417S |
probably damaging |
Het |
Neb |
T |
C |
2: 52,126,907 (GRCm39) |
N3605S |
probably damaging |
Het |
Net1 |
A |
T |
13: 3,962,941 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,461,164 (GRCm39) |
T2464A |
possibly damaging |
Het |
Nt5e |
T |
A |
9: 88,252,240 (GRCm39) |
I534N |
probably damaging |
Het |
Nudt12 |
T |
A |
17: 59,318,071 (GRCm39) |
H58L |
probably damaging |
Het |
Ocrl |
T |
A |
X: 47,050,993 (GRCm39) |
I74N |
probably damaging |
Het |
Or1a1 |
A |
G |
11: 74,086,479 (GRCm39) |
H50R |
probably benign |
Het |
Or2ag13 |
A |
G |
7: 106,473,348 (GRCm39) |
Y35H |
probably damaging |
Het |
Or5ae2 |
A |
G |
7: 84,505,690 (GRCm39) |
T38A |
probably damaging |
Het |
Or9k2b |
A |
G |
10: 130,016,701 (GRCm39) |
I16T |
probably benign |
Het |
Pef1 |
C |
A |
4: 130,014,966 (GRCm39) |
C10* |
probably null |
Het |
Phf21b |
A |
G |
15: 84,681,547 (GRCm39) |
Y256H |
probably damaging |
Het |
Phox2a |
G |
T |
7: 101,470,152 (GRCm39) |
|
probably null |
Het |
Pi16 |
A |
G |
17: 29,546,419 (GRCm39) |
E399G |
possibly damaging |
Het |
Pipox |
A |
T |
11: 77,772,949 (GRCm39) |
Y321N |
probably damaging |
Het |
Plin4 |
A |
G |
17: 56,410,522 (GRCm39) |
S1170P |
probably damaging |
Het |
Pnma2 |
C |
T |
14: 67,154,662 (GRCm39) |
S362L |
possibly damaging |
Het |
Ppp1r9a |
T |
C |
6: 5,113,710 (GRCm39) |
I738T |
probably damaging |
Het |
Prkcsh |
A |
T |
9: 21,919,634 (GRCm39) |
K188M |
probably damaging |
Het |
Rcc1l |
A |
T |
5: 134,192,498 (GRCm39) |
Y309N |
probably damaging |
Het |
Ripk1 |
A |
G |
13: 34,199,196 (GRCm39) |
T123A |
probably benign |
Het |
Robo4 |
A |
G |
9: 37,324,355 (GRCm39) |
D961G |
probably benign |
Het |
Rps27a |
A |
G |
11: 29,496,299 (GRCm39) |
Y105H |
probably benign |
Het |
Scaper |
A |
G |
9: 55,724,018 (GRCm39) |
Y641H |
possibly damaging |
Het |
Scn1a |
C |
A |
2: 66,154,960 (GRCm39) |
Q666H |
probably benign |
Het |
Scn1a |
T |
A |
2: 66,154,961 (GRCm39) |
Q666L |
probably benign |
Het |
Sdhaf4 |
T |
C |
1: 24,042,234 (GRCm39) |
|
probably null |
Het |
Sec14l3 |
A |
G |
11: 4,016,510 (GRCm39) |
|
probably benign |
Het |
Selp |
C |
A |
1: 163,955,729 (GRCm39) |
|
probably null |
Het |
Sim1 |
A |
G |
10: 50,785,924 (GRCm39) |
D259G |
probably damaging |
Het |
Sptan1 |
T |
A |
2: 29,882,013 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
T |
A |
7: 27,066,071 (GRCm39) |
E679V |
probably null |
Het |
Sytl3 |
G |
A |
17: 6,995,726 (GRCm39) |
E169K |
probably benign |
Het |
Taar1 |
T |
C |
10: 23,797,087 (GRCm39) |
C262R |
probably benign |
Het |
Taf7l2 |
T |
C |
10: 115,948,570 (GRCm39) |
R319G |
probably benign |
Het |
Tbc1d32 |
A |
G |
10: 55,893,700 (GRCm39) |
I1291T |
probably benign |
Het |
Tet1 |
G |
A |
10: 62,649,444 (GRCm39) |
P89S |
probably damaging |
Het |
Tgfbrap1 |
C |
A |
1: 43,110,795 (GRCm39) |
G7W |
probably damaging |
Het |
Thada |
A |
G |
17: 84,533,432 (GRCm39) |
V1673A |
possibly damaging |
Het |
Thbs4 |
A |
G |
13: 92,897,989 (GRCm39) |
V610A |
probably benign |
Het |
Tmem163 |
A |
G |
1: 127,605,246 (GRCm39) |
S41P |
probably benign |
Het |
Tmem65 |
A |
T |
15: 58,658,962 (GRCm39) |
H200Q |
probably damaging |
Het |
Trgc3 |
A |
G |
13: 19,447,535 (GRCm39) |
T163A |
possibly damaging |
Het |
Trim62 |
T |
C |
4: 128,803,018 (GRCm39) |
V356A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,562,502 (GRCm39) |
D28781G |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,593,604 (GRCm39) |
V20679I |
probably benign |
Het |
Tut7 |
A |
T |
13: 59,962,749 (GRCm39) |
Y339* |
probably null |
Het |
Unc80 |
A |
T |
1: 66,678,407 (GRCm39) |
T2063S |
possibly damaging |
Het |
Vav3 |
A |
G |
3: 109,413,742 (GRCm39) |
T227A |
probably benign |
Het |
Vmn2r118 |
A |
T |
17: 55,899,456 (GRCm39) |
I816N |
probably damaging |
Het |
Vmn2r26 |
T |
A |
6: 124,038,369 (GRCm39) |
M648K |
possibly damaging |
Het |
Vmn2r88 |
T |
G |
14: 51,650,487 (GRCm39) |
|
probably benign |
Het |
Vwa3a |
A |
G |
7: 120,389,359 (GRCm39) |
T66A |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,341,484 (GRCm39) |
Y1242N |
probably damaging |
Het |
Ywhag |
G |
A |
5: 135,940,384 (GRCm39) |
T70M |
probably damaging |
Het |
Zfp248 |
T |
C |
6: 118,405,931 (GRCm39) |
T452A |
probably damaging |
Het |
Zfp988 |
A |
T |
4: 147,417,344 (GRCm39) |
I593F |
probably damaging |
Het |
|
Other mutations in Cttnbp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00954:Cttnbp2
|
APN |
6 |
18,381,061 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01014:Cttnbp2
|
APN |
6 |
18,423,894 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01148:Cttnbp2
|
APN |
6 |
18,382,817 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01903:Cttnbp2
|
APN |
6 |
18,501,964 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01906:Cttnbp2
|
APN |
6 |
18,378,375 (GRCm39) |
nonsense |
probably null |
|
IGL01994:Cttnbp2
|
APN |
6 |
18,420,814 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02212:Cttnbp2
|
APN |
6 |
18,382,748 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02696:Cttnbp2
|
APN |
6 |
18,434,128 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02813:Cttnbp2
|
APN |
6 |
18,367,537 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02864:Cttnbp2
|
APN |
6 |
18,374,548 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03309:Cttnbp2
|
APN |
6 |
18,381,035 (GRCm39) |
missense |
probably damaging |
0.98 |
Feelers
|
UTSW |
6 |
18,405,278 (GRCm39) |
splice site |
probably null |
|
warning
|
UTSW |
6 |
18,375,952 (GRCm39) |
missense |
probably damaging |
1.00 |
BB009:Cttnbp2
|
UTSW |
6 |
18,427,532 (GRCm39) |
missense |
probably damaging |
1.00 |
BB019:Cttnbp2
|
UTSW |
6 |
18,427,532 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Cttnbp2
|
UTSW |
6 |
18,367,457 (GRCm39) |
utr 3 prime |
probably benign |
|
FR4449:Cttnbp2
|
UTSW |
6 |
18,367,461 (GRCm39) |
utr 3 prime |
probably benign |
|
FR4548:Cttnbp2
|
UTSW |
6 |
18,367,462 (GRCm39) |
utr 3 prime |
probably benign |
|
FR4589:Cttnbp2
|
UTSW |
6 |
18,367,457 (GRCm39) |
utr 3 prime |
probably benign |
|
FR4976:Cttnbp2
|
UTSW |
6 |
18,367,466 (GRCm39) |
utr 3 prime |
probably benign |
|
FR4976:Cttnbp2
|
UTSW |
6 |
18,367,460 (GRCm39) |
utr 3 prime |
probably benign |
|
R0165:Cttnbp2
|
UTSW |
6 |
18,435,409 (GRCm39) |
nonsense |
probably null |
|
R0382:Cttnbp2
|
UTSW |
6 |
18,435,342 (GRCm39) |
missense |
probably benign |
0.39 |
R0464:Cttnbp2
|
UTSW |
6 |
18,408,690 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0550:Cttnbp2
|
UTSW |
6 |
18,435,308 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0571:Cttnbp2
|
UTSW |
6 |
18,381,102 (GRCm39) |
missense |
probably benign |
|
R0627:Cttnbp2
|
UTSW |
6 |
18,367,372 (GRCm39) |
makesense |
probably null |
|
R0788:Cttnbp2
|
UTSW |
6 |
18,423,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R0826:Cttnbp2
|
UTSW |
6 |
18,405,177 (GRCm39) |
splice site |
probably benign |
|
R1319:Cttnbp2
|
UTSW |
6 |
18,434,629 (GRCm39) |
missense |
probably benign |
0.00 |
R1476:Cttnbp2
|
UTSW |
6 |
18,434,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R1572:Cttnbp2
|
UTSW |
6 |
18,375,974 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1596:Cttnbp2
|
UTSW |
6 |
18,408,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R1607:Cttnbp2
|
UTSW |
6 |
18,435,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R1633:Cttnbp2
|
UTSW |
6 |
18,435,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R1634:Cttnbp2
|
UTSW |
6 |
18,408,656 (GRCm39) |
missense |
probably benign |
0.39 |
R1661:Cttnbp2
|
UTSW |
6 |
18,434,982 (GRCm39) |
missense |
probably benign |
0.20 |
R1665:Cttnbp2
|
UTSW |
6 |
18,434,982 (GRCm39) |
missense |
probably benign |
0.20 |
R1853:Cttnbp2
|
UTSW |
6 |
18,408,601 (GRCm39) |
missense |
probably benign |
0.00 |
R1855:Cttnbp2
|
UTSW |
6 |
18,378,412 (GRCm39) |
missense |
probably benign |
|
R2018:Cttnbp2
|
UTSW |
6 |
18,434,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R2169:Cttnbp2
|
UTSW |
6 |
18,426,096 (GRCm39) |
missense |
probably benign |
0.00 |
R2175:Cttnbp2
|
UTSW |
6 |
18,434,828 (GRCm39) |
splice site |
probably null |
|
R2202:Cttnbp2
|
UTSW |
6 |
18,408,693 (GRCm39) |
missense |
probably benign |
0.12 |
R2203:Cttnbp2
|
UTSW |
6 |
18,408,693 (GRCm39) |
missense |
probably benign |
0.12 |
R2204:Cttnbp2
|
UTSW |
6 |
18,408,693 (GRCm39) |
missense |
probably benign |
0.12 |
R2205:Cttnbp2
|
UTSW |
6 |
18,408,693 (GRCm39) |
missense |
probably benign |
0.12 |
R2371:Cttnbp2
|
UTSW |
6 |
18,380,603 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2416:Cttnbp2
|
UTSW |
6 |
18,448,285 (GRCm39) |
missense |
probably damaging |
0.99 |
R3414:Cttnbp2
|
UTSW |
6 |
18,389,204 (GRCm39) |
missense |
probably benign |
|
R3617:Cttnbp2
|
UTSW |
6 |
18,414,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R3861:Cttnbp2
|
UTSW |
6 |
18,423,832 (GRCm39) |
missense |
probably benign |
0.11 |
R3862:Cttnbp2
|
UTSW |
6 |
18,434,905 (GRCm39) |
missense |
probably benign |
0.02 |
R3940:Cttnbp2
|
UTSW |
6 |
18,420,974 (GRCm39) |
missense |
probably benign |
0.34 |
R3941:Cttnbp2
|
UTSW |
6 |
18,427,452 (GRCm39) |
missense |
probably benign |
0.11 |
R4097:Cttnbp2
|
UTSW |
6 |
18,420,871 (GRCm39) |
missense |
probably benign |
|
R4211:Cttnbp2
|
UTSW |
6 |
18,427,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Cttnbp2
|
UTSW |
6 |
18,514,703 (GRCm39) |
missense |
probably benign |
0.00 |
R4367:Cttnbp2
|
UTSW |
6 |
18,405,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4651:Cttnbp2
|
UTSW |
6 |
18,434,037 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4652:Cttnbp2
|
UTSW |
6 |
18,434,037 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4660:Cttnbp2
|
UTSW |
6 |
18,406,536 (GRCm39) |
missense |
probably benign |
0.05 |
R4975:Cttnbp2
|
UTSW |
6 |
18,406,525 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5064:Cttnbp2
|
UTSW |
6 |
18,448,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R5205:Cttnbp2
|
UTSW |
6 |
18,427,432 (GRCm39) |
splice site |
probably benign |
|
R5305:Cttnbp2
|
UTSW |
6 |
18,381,097 (GRCm39) |
missense |
probably benign |
|
R5484:Cttnbp2
|
UTSW |
6 |
18,427,689 (GRCm39) |
intron |
probably benign |
|
R5629:Cttnbp2
|
UTSW |
6 |
18,405,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R5763:Cttnbp2
|
UTSW |
6 |
18,414,298 (GRCm39) |
missense |
probably benign |
0.00 |
R5766:Cttnbp2
|
UTSW |
6 |
18,381,032 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5942:Cttnbp2
|
UTSW |
6 |
18,448,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R6073:Cttnbp2
|
UTSW |
6 |
18,448,368 (GRCm39) |
missense |
probably benign |
0.01 |
R6073:Cttnbp2
|
UTSW |
6 |
18,434,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R6163:Cttnbp2
|
UTSW |
6 |
18,434,950 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6545:Cttnbp2
|
UTSW |
6 |
18,405,278 (GRCm39) |
splice site |
probably null |
|
R6858:Cttnbp2
|
UTSW |
6 |
18,448,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R7037:Cttnbp2
|
UTSW |
6 |
18,435,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R7135:Cttnbp2
|
UTSW |
6 |
18,448,446 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7141:Cttnbp2
|
UTSW |
6 |
18,380,467 (GRCm39) |
missense |
probably benign |
0.00 |
R7353:Cttnbp2
|
UTSW |
6 |
18,375,943 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7465:Cttnbp2
|
UTSW |
6 |
18,501,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R7500:Cttnbp2
|
UTSW |
6 |
18,378,419 (GRCm39) |
missense |
probably benign |
0.00 |
R7534:Cttnbp2
|
UTSW |
6 |
18,420,764 (GRCm39) |
critical splice donor site |
probably null |
|
R7646:Cttnbp2
|
UTSW |
6 |
18,375,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R7678:Cttnbp2
|
UTSW |
6 |
18,382,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R7699:Cttnbp2
|
UTSW |
6 |
18,514,734 (GRCm39) |
start codon destroyed |
possibly damaging |
0.82 |
R7809:Cttnbp2
|
UTSW |
6 |
18,434,289 (GRCm39) |
missense |
probably damaging |
0.99 |
R7816:Cttnbp2
|
UTSW |
6 |
18,448,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R7817:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7932:Cttnbp2
|
UTSW |
6 |
18,427,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R8010:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8011:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8014:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8015:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8095:Cttnbp2
|
UTSW |
6 |
18,435,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R8754:Cttnbp2
|
UTSW |
6 |
18,434,037 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8769:Cttnbp2
|
UTSW |
6 |
18,376,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R8836:Cttnbp2
|
UTSW |
6 |
18,375,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R8886:Cttnbp2
|
UTSW |
6 |
18,414,298 (GRCm39) |
missense |
probably benign |
0.00 |
R8921:Cttnbp2
|
UTSW |
6 |
18,434,877 (GRCm39) |
missense |
probably benign |
0.10 |
R8931:Cttnbp2
|
UTSW |
6 |
18,434,808 (GRCm39) |
missense |
probably benign |
0.00 |
R8956:Cttnbp2
|
UTSW |
6 |
18,434,165 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9005:Cttnbp2
|
UTSW |
6 |
18,434,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R9141:Cttnbp2
|
UTSW |
6 |
18,429,138 (GRCm39) |
nonsense |
probably null |
|
R9194:Cttnbp2
|
UTSW |
6 |
18,434,850 (GRCm39) |
missense |
probably benign |
0.00 |
R9425:Cttnbp2
|
UTSW |
6 |
18,423,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R9563:Cttnbp2
|
UTSW |
6 |
18,427,467 (GRCm39) |
nonsense |
probably null |
|
R9563:Cttnbp2
|
UTSW |
6 |
18,367,382 (GRCm39) |
missense |
probably benign |
0.03 |
R9661:Cttnbp2
|
UTSW |
6 |
18,429,151 (GRCm39) |
missense |
|
|
R9763:Cttnbp2
|
UTSW |
6 |
18,435,240 (GRCm39) |
missense |
probably benign |
|
R9790:Cttnbp2
|
UTSW |
6 |
18,376,027 (GRCm39) |
missense |
probably benign |
0.03 |
R9791:Cttnbp2
|
UTSW |
6 |
18,376,027 (GRCm39) |
missense |
probably benign |
0.03 |
Z1176:Cttnbp2
|
UTSW |
6 |
18,408,724 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1176:Cttnbp2
|
UTSW |
6 |
18,408,708 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Cttnbp2
|
UTSW |
6 |
18,501,959 (GRCm39) |
nonsense |
probably null |
|
Z1176:Cttnbp2
|
UTSW |
6 |
18,420,835 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATGGCGATGTCTCAAATCTC -3'
(R):5'- AAGCCATCGTGCTTGGTTTC -3'
Sequencing Primer
(F):5'- TTCTGTCATCTCAAGAACCAACTG -3'
(R):5'- CCATCGTGCTTGGTTTCAGGATATC -3'
|
Posted On |
2014-06-23 |