Incidental Mutation 'R4660:Cttnbp2'
ID |
352761 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cttnbp2
|
Ensembl Gene |
ENSMUSG00000000416 |
Gene Name |
cortactin binding protein 2 |
Synonyms |
ORF4, Cortbp2, 4732477G22Rik, 9130022E09Rik, 3010022N24Rik |
MMRRC Submission |
041920-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4660 (G1)
|
Quality Score |
178 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
18366477-18514842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 18406536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1052
(S1052P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090601]
[ENSMUST00000148602]
|
AlphaFold |
B9EJA2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090601
AA Change: S1052P
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000088089 Gene: ENSMUSG00000000416 AA Change: S1052P
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 |
unknown
Transcript: ENSMUST00000141581
AA Change: S76P
|
SMART Domains |
Protein: ENSMUSP00000123162 Gene: ENSMUSG00000000416 AA Change: S76P
Domain | Start | End | E-Value | Type |
low complexity region
|
182 |
193 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000146775
AA Change: S542P
|
SMART Domains |
Protein: ENSMUSP00000119383 Gene: ENSMUSG00000000416 AA Change: S542P
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
79 |
N/A |
INTRINSIC |
low complexity region
|
126 |
138 |
N/A |
INTRINSIC |
ANK
|
190 |
220 |
5.21e1 |
SMART |
ANK
|
224 |
253 |
7.02e-5 |
SMART |
ANK
|
257 |
286 |
6.55e-5 |
SMART |
ANK
|
290 |
319 |
4.1e-6 |
SMART |
ANK
|
323 |
352 |
1.09e-1 |
SMART |
ANK
|
392 |
422 |
4.43e-2 |
SMART |
Blast:AAA
|
599 |
776 |
1e-18 |
BLAST |
low complexity region
|
1100 |
1114 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148602
|
SMART Domains |
Protein: ENSMUSP00000118432 Gene: ENSMUSG00000000416
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152499
|
Meta Mutation Damage Score |
0.1161 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
96% (102/106) |
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: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra1d |
T |
C |
2: 131,403,062 (GRCm39) |
T343A |
probably damaging |
Het |
Angptl4 |
A |
T |
17: 33,996,249 (GRCm39) |
|
probably benign |
Het |
Antxr2 |
A |
T |
5: 98,151,913 (GRCm39) |
|
probably null |
Het |
Ap1b1 |
T |
A |
11: 4,966,760 (GRCm39) |
V145E |
probably damaging |
Het |
Asns |
G |
T |
6: 7,678,012 (GRCm39) |
N355K |
probably benign |
Het |
Asxl3 |
A |
G |
18: 22,649,534 (GRCm39) |
T508A |
probably benign |
Het |
B4galt7 |
T |
A |
13: 55,752,111 (GRCm39) |
V54D |
possibly damaging |
Het |
Bach2 |
C |
T |
4: 32,562,777 (GRCm39) |
P415S |
probably benign |
Het |
Bbs9 |
G |
A |
9: 22,490,063 (GRCm39) |
R278Q |
probably benign |
Het |
Blzf1 |
C |
T |
1: 164,134,062 (GRCm39) |
|
probably benign |
Het |
Btd |
A |
T |
14: 31,389,760 (GRCm39) |
T494S |
probably benign |
Het |
Casp9 |
C |
T |
4: 141,540,934 (GRCm39) |
T434I |
probably benign |
Het |
Cavin2 |
T |
C |
1: 51,340,510 (GRCm39) |
S396P |
probably benign |
Het |
Ccnk |
C |
T |
12: 108,168,575 (GRCm39) |
|
probably benign |
Het |
Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
Clip1 |
G |
A |
5: 123,717,437 (GRCm39) |
T1284I |
probably damaging |
Het |
Coch |
T |
C |
12: 51,642,268 (GRCm39) |
V80A |
probably benign |
Het |
Cyp2j7 |
C |
T |
4: 96,083,579 (GRCm39) |
R457K |
probably benign |
Het |
Dalrd3 |
T |
C |
9: 108,447,568 (GRCm39) |
S129P |
probably benign |
Het |
Ddx10 |
A |
G |
9: 53,147,698 (GRCm39) |
|
probably null |
Het |
Dnah7b |
A |
T |
1: 46,328,696 (GRCm39) |
T3143S |
probably damaging |
Het |
Dynlt1b |
A |
G |
17: 6,699,279 (GRCm39) |
T10A |
probably benign |
Het |
Eif2s2 |
G |
A |
2: 154,730,189 (GRCm39) |
T36I |
probably benign |
Het |
Fam118b |
A |
T |
9: 35,146,551 (GRCm39) |
H105Q |
possibly damaging |
Het |
Galntl5 |
T |
A |
5: 25,408,377 (GRCm39) |
I250N |
probably damaging |
Het |
Gm11544 |
C |
T |
11: 94,736,306 (GRCm39) |
|
noncoding transcript |
Het |
Gm5709 |
C |
T |
3: 59,526,124 (GRCm39) |
|
noncoding transcript |
Het |
Golgb1 |
T |
A |
16: 36,707,980 (GRCm39) |
I107N |
probably damaging |
Het |
Gpld1 |
T |
C |
13: 25,166,586 (GRCm39) |
|
probably null |
Het |
Grik1 |
T |
A |
16: 87,720,019 (GRCm39) |
T768S |
probably damaging |
Het |
H2-T23 |
T |
G |
17: 36,341,108 (GRCm39) |
Q349P |
probably damaging |
Het |
Ing3 |
A |
T |
6: 21,973,710 (GRCm39) |
|
probably benign |
Het |
Iqgap3 |
T |
G |
3: 88,027,483 (GRCm39) |
L702R |
probably damaging |
Het |
Itga8 |
A |
G |
2: 12,270,069 (GRCm39) |
V139A |
probably damaging |
Het |
Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
Kbtbd12 |
T |
C |
6: 88,594,772 (GRCm39) |
I353V |
probably benign |
Het |
Kif27 |
T |
C |
13: 58,471,730 (GRCm39) |
E786G |
probably damaging |
Het |
Lingo4 |
T |
A |
3: 94,310,672 (GRCm39) |
S537T |
probably benign |
Het |
Lipo3 |
C |
T |
19: 33,598,360 (GRCm39) |
|
probably benign |
Het |
Lrrc3 |
G |
T |
10: 77,729,866 (GRCm39) |
|
probably benign |
Het |
Ltbp3 |
T |
A |
19: 5,798,814 (GRCm39) |
|
probably null |
Het |
Lyg1 |
T |
A |
1: 37,985,942 (GRCm39) |
|
probably benign |
Het |
Mcm9 |
T |
C |
10: 53,424,623 (GRCm39) |
I656V |
probably benign |
Het |
Mfsd8 |
T |
A |
3: 40,776,372 (GRCm39) |
I427F |
probably benign |
Het |
Mga |
T |
A |
2: 119,769,104 (GRCm39) |
|
probably benign |
Het |
Miga1 |
A |
G |
3: 151,993,155 (GRCm39) |
L422P |
probably damaging |
Het |
Msantd3 |
A |
G |
4: 48,552,536 (GRCm39) |
I42V |
probably benign |
Het |
Mybbp1a |
T |
C |
11: 72,336,538 (GRCm39) |
V510A |
probably benign |
Het |
Nccrp1 |
G |
T |
7: 28,245,760 (GRCm39) |
P135T |
probably damaging |
Het |
Neb |
T |
A |
2: 52,145,600 (GRCm39) |
M2975L |
possibly damaging |
Het |
Nfxl1 |
A |
T |
5: 72,710,011 (GRCm39) |
I171N |
probably damaging |
Het |
Odad2 |
A |
G |
18: 7,211,609 (GRCm39) |
V755A |
possibly damaging |
Het |
Or10q3 |
T |
C |
19: 11,848,412 (GRCm39) |
H56R |
possibly damaging |
Het |
Or12j5 |
A |
T |
7: 140,083,933 (GRCm39) |
F146L |
probably benign |
Het |
Or13a19 |
T |
C |
7: 139,903,325 (GRCm39) |
F238L |
possibly damaging |
Het |
Otop1 |
T |
G |
5: 38,457,368 (GRCm39) |
S376A |
possibly damaging |
Het |
Pdgfra |
T |
C |
5: 75,322,932 (GRCm39) |
V10A |
possibly damaging |
Het |
Pgs1 |
T |
C |
11: 117,910,503 (GRCm39) |
V538A |
probably damaging |
Het |
Ppa2 |
A |
T |
3: 133,032,445 (GRCm39) |
T97S |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,380,847 (GRCm39) |
Y392F |
probably benign |
Het |
Pramel26 |
A |
G |
4: 143,538,435 (GRCm39) |
S179P |
probably benign |
Het |
Prdm10 |
G |
A |
9: 31,238,624 (GRCm39) |
C172Y |
probably damaging |
Het |
Prrc2c |
G |
A |
1: 162,508,464 (GRCm39) |
P1091L |
probably damaging |
Het |
Pthlh |
G |
A |
6: 147,158,796 (GRCm39) |
R55C |
probably damaging |
Het |
Ptpn9 |
A |
T |
9: 56,943,782 (GRCm39) |
T105S |
probably benign |
Het |
Rundc1 |
T |
A |
11: 101,324,830 (GRCm39) |
V512E |
possibly damaging |
Het |
Scrib |
G |
A |
15: 75,937,185 (GRCm39) |
S307L |
probably damaging |
Het |
Sec23ip |
A |
G |
7: 128,352,010 (GRCm39) |
S26G |
probably null |
Het |
Sec61a2 |
A |
G |
2: 5,878,504 (GRCm39) |
|
probably benign |
Het |
Sema3c |
T |
C |
5: 17,877,511 (GRCm39) |
V206A |
probably damaging |
Het |
Sgk2 |
C |
T |
2: 162,839,763 (GRCm39) |
H124Y |
possibly damaging |
Het |
Slc26a6 |
C |
T |
9: 108,738,540 (GRCm39) |
T592I |
probably damaging |
Het |
Slc5a11 |
T |
C |
7: 122,864,486 (GRCm39) |
Y361H |
probably damaging |
Het |
Smc6 |
T |
C |
12: 11,324,008 (GRCm39) |
V51A |
probably damaging |
Het |
Stab1 |
A |
T |
14: 30,876,872 (GRCm39) |
N817K |
possibly damaging |
Het |
Swt1 |
A |
T |
1: 151,283,348 (GRCm39) |
D336E |
probably benign |
Het |
Taf13 |
T |
A |
3: 108,480,293 (GRCm39) |
|
probably benign |
Het |
Tmub2 |
T |
C |
11: 102,175,845 (GRCm39) |
|
probably benign |
Het |
Tnf |
A |
G |
17: 35,419,156 (GRCm39) |
S209P |
probably benign |
Het |
Try10 |
A |
G |
6: 41,334,761 (GRCm39) |
Y229C |
probably damaging |
Het |
Ttbk1 |
G |
T |
17: 46,788,714 (GRCm39) |
Y183* |
probably null |
Het |
Ttc17 |
A |
T |
2: 94,194,774 (GRCm39) |
I533N |
possibly damaging |
Het |
Tubb6 |
C |
T |
18: 67,535,016 (GRCm39) |
P305L |
probably damaging |
Het |
Tulp3 |
G |
A |
6: 128,300,017 (GRCm39) |
|
probably benign |
Het |
Usp9x |
A |
G |
X: 12,989,747 (GRCm39) |
R776G |
possibly damaging |
Het |
Virma |
T |
C |
4: 11,513,505 (GRCm39) |
V453A |
probably damaging |
Het |
Vmn2r103 |
A |
T |
17: 20,032,077 (GRCm39) |
N617I |
probably damaging |
Het |
Xirp1 |
G |
T |
9: 119,846,058 (GRCm39) |
L942M |
probably damaging |
Het |
Zc3h7b |
T |
G |
15: 81,676,451 (GRCm39) |
V731G |
probably benign |
Het |
Zfp534 |
C |
T |
4: 147,759,175 (GRCm39) |
G498D |
probably benign |
Het |
Zfp639 |
T |
C |
3: 32,574,679 (GRCm39) |
Y435H |
probably damaging |
Het |
Zxdc |
A |
G |
6: 90,355,820 (GRCm39) |
H443R |
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 |
R1834:Cttnbp2
|
UTSW |
6 |
18,501,965 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TCATAGTAGGAGCCACACAAGC -3'
(R):5'- GACAAGTTTCCCTCTGACCTTG -3'
Sequencing Primer
(F):5'- CGAGCAGATAGAACAGTTAAGTTTAG -3'
(R):5'- CAAAAATGTACCCGAGGAGTTC -3'
|
Posted On |
2015-10-08 |