Incidental Mutation 'R0421:Pcdhb11'
ID |
37093 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb11
|
Ensembl Gene |
ENSMUSG00000051486 |
Gene Name |
protocadherin beta 11 |
Synonyms |
PcdhbK, Pcdhb5E |
MMRRC Submission |
038623-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R0421 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37554471-37558085 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37555533 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 288
(S288T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053073]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
Q91UZ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053073
AA Change: S288T
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000056148 Gene: ENSMUSG00000051486 AA Change: S288T
Domain | Start | End | E-Value | Type |
CA
|
54 |
131 |
3.51e-1 |
SMART |
CA
|
155 |
240 |
4.11e-21 |
SMART |
CA
|
264 |
344 |
6.37e-27 |
SMART |
CA
|
367 |
448 |
4.79e-22 |
SMART |
CA
|
472 |
558 |
7.31e-27 |
SMART |
CA
|
588 |
669 |
2.46e-10 |
SMART |
Pfam:Cadherin_C_2
|
686 |
769 |
3.4e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
SMART Domains |
Protein: ENSMUSP00000111325 Gene: ENSMUSG00000103458
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
674 |
4.12e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
SMART Domains |
Protein: ENSMUSP00000141847 Gene: ENSMUSG00000102836
Domain | Start | End | E-Value | Type |
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
97% (67/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
G |
A |
2: 22,850,839 (GRCm39) |
T195I |
probably damaging |
Het |
Afap1l1 |
T |
C |
18: 61,884,945 (GRCm39) |
N180S |
probably damaging |
Het |
Arsg |
A |
G |
11: 109,418,592 (GRCm39) |
Y196C |
probably damaging |
Het |
Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
Atp2b2 |
C |
A |
6: 113,790,849 (GRCm39) |
R185L |
probably damaging |
Het |
Ccr9 |
A |
T |
9: 123,608,671 (GRCm39) |
M118L |
probably benign |
Het |
Cdh12 |
A |
T |
15: 21,480,310 (GRCm39) |
|
probably null |
Het |
Cdk13 |
T |
C |
13: 17,937,755 (GRCm39) |
S763G |
probably damaging |
Het |
Cenpk |
C |
A |
13: 104,378,911 (GRCm39) |
N177K |
probably benign |
Het |
Cfap43 |
T |
G |
19: 47,824,014 (GRCm39) |
N119T |
probably benign |
Het |
Chrna6 |
T |
C |
8: 27,898,415 (GRCm39) |
E101G |
probably null |
Het |
Clasp2 |
G |
A |
9: 113,683,370 (GRCm39) |
R400H |
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,661,405 (GRCm39) |
M235V |
probably benign |
Het |
Ddx49 |
A |
T |
8: 70,748,282 (GRCm39) |
L291Q |
probably damaging |
Het |
Dhrs7 |
A |
T |
12: 72,699,860 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,229,687 (GRCm39) |
K107M |
possibly damaging |
Het |
Dsg2 |
C |
T |
18: 20,712,448 (GRCm39) |
R151C |
probably damaging |
Het |
Dsn1 |
T |
C |
2: 156,847,789 (GRCm39) |
T2A |
possibly damaging |
Het |
Edem3 |
A |
G |
1: 151,668,189 (GRCm39) |
|
probably benign |
Het |
Eif3c |
T |
C |
7: 126,162,884 (GRCm39) |
N133S |
possibly damaging |
Het |
F10 |
A |
G |
8: 13,095,097 (GRCm39) |
K85E |
probably benign |
Het |
Fbn2 |
T |
A |
18: 58,160,876 (GRCm39) |
|
probably benign |
Het |
Gtpbp10 |
A |
T |
5: 5,607,290 (GRCm39) |
H50Q |
probably benign |
Het |
Hephl1 |
A |
G |
9: 14,970,456 (GRCm39) |
F1013L |
probably benign |
Het |
Hps3 |
C |
A |
3: 20,083,480 (GRCm39) |
V238F |
probably benign |
Het |
Kcna10 |
A |
C |
3: 107,101,820 (GRCm39) |
K150N |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,990,914 (GRCm39) |
G636D |
probably damaging |
Het |
Kndc1 |
G |
A |
7: 139,488,912 (GRCm39) |
R189H |
probably damaging |
Het |
Knop1 |
C |
T |
7: 118,454,852 (GRCm39) |
E50K |
possibly damaging |
Het |
Kplce |
T |
C |
3: 92,776,291 (GRCm39) |
T131A |
probably damaging |
Het |
Kpna7 |
T |
A |
5: 144,926,551 (GRCm39) |
H467L |
possibly damaging |
Het |
Lcn4 |
T |
C |
2: 26,558,661 (GRCm39) |
N142D |
possibly damaging |
Het |
Map3k3 |
T |
C |
11: 106,039,741 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,684,707 (GRCm39) |
T806A |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,307,598 (GRCm39) |
N1703K |
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,799,360 (GRCm39) |
V914A |
probably damaging |
Het |
Niban1 |
T |
A |
1: 151,584,833 (GRCm39) |
|
probably benign |
Het |
Nop56 |
T |
C |
2: 130,118,692 (GRCm39) |
S275P |
possibly damaging |
Het |
Or1j20 |
A |
G |
2: 36,759,653 (GRCm39) |
E25G |
possibly damaging |
Het |
Or52ac1 |
A |
G |
7: 104,245,929 (GRCm39) |
V153A |
probably benign |
Het |
Or7e174 |
A |
G |
9: 20,012,771 (GRCm39) |
K239E |
probably damaging |
Het |
Otof |
A |
C |
5: 30,528,912 (GRCm39) |
I1827S |
possibly damaging |
Het |
Pappa2 |
A |
T |
1: 158,675,650 (GRCm39) |
I1032N |
probably damaging |
Het |
Pcdh7 |
A |
G |
5: 57,877,402 (GRCm39) |
E319G |
probably damaging |
Het |
Phip |
A |
T |
9: 82,808,510 (GRCm39) |
D488E |
probably damaging |
Het |
Pla2g7 |
A |
T |
17: 43,922,303 (GRCm39) |
H394L |
probably damaging |
Het |
Plk3 |
A |
G |
4: 116,990,641 (GRCm39) |
V69A |
probably damaging |
Het |
Prob1 |
C |
A |
18: 35,786,083 (GRCm39) |
A724S |
possibly damaging |
Het |
Prune2 |
T |
C |
19: 17,100,675 (GRCm39) |
F2060L |
probably benign |
Het |
Rgl3 |
G |
A |
9: 21,887,328 (GRCm39) |
R498C |
probably benign |
Het |
Rnf213 |
A |
C |
11: 119,338,083 (GRCm39) |
N3362H |
probably damaging |
Het |
Sbds |
A |
G |
5: 130,282,774 (GRCm39) |
|
probably benign |
Het |
Scn9a |
T |
C |
2: 66,373,621 (GRCm39) |
S453G |
probably benign |
Het |
Sh3rf3 |
T |
C |
10: 58,819,897 (GRCm39) |
L236P |
probably damaging |
Het |
Skint1 |
A |
G |
4: 111,876,211 (GRCm39) |
N44S |
possibly damaging |
Het |
Slc5a1 |
T |
A |
5: 33,291,996 (GRCm39) |
I141N |
probably damaging |
Het |
Tlcd3b |
G |
A |
7: 126,424,187 (GRCm39) |
V44M |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,220,907 (GRCm39) |
I2548N |
probably damaging |
Het |
Tsc22d2 |
G |
A |
3: 58,324,749 (GRCm39) |
|
probably benign |
Het |
Unc13c |
T |
A |
9: 73,840,492 (GRCm39) |
I120F |
possibly damaging |
Het |
Vmn2r11 |
T |
G |
5: 109,207,294 (GRCm39) |
I9L |
probably benign |
Het |
Vmn2r58 |
T |
G |
7: 41,514,628 (GRCm39) |
N114H |
probably benign |
Het |
Vps53 |
A |
G |
11: 75,973,496 (GRCm39) |
L166P |
probably damaging |
Het |
Zfp119a |
T |
A |
17: 56,172,248 (GRCm39) |
K532* |
probably null |
Het |
Zfp472 |
A |
G |
17: 33,194,897 (GRCm39) |
T11A |
possibly damaging |
Het |
Zfp512b |
T |
A |
2: 181,230,051 (GRCm39) |
K87* |
probably null |
Het |
Zfp518b |
G |
A |
5: 38,831,918 (GRCm39) |
P29L |
probably damaging |
Het |
Zfp599 |
A |
G |
9: 22,161,843 (GRCm39) |
|
probably benign |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pcdhb11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00321:Pcdhb11
|
APN |
18 |
37,555,026 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00906:Pcdhb11
|
APN |
18 |
37,555,174 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01610:Pcdhb11
|
APN |
18 |
37,556,412 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01973:Pcdhb11
|
APN |
18 |
37,556,565 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01977:Pcdhb11
|
APN |
18 |
37,555,344 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02164:Pcdhb11
|
APN |
18 |
37,556,412 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02282:Pcdhb11
|
APN |
18 |
37,556,881 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02674:Pcdhb11
|
APN |
18 |
37,556,667 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02965:Pcdhb11
|
APN |
18 |
37,557,021 (GRCm39) |
missense |
probably benign |
|
IGL03197:Pcdhb11
|
APN |
18 |
37,555,477 (GRCm39) |
nonsense |
probably null |
|
1mM(1):Pcdhb11
|
UTSW |
18 |
37,557,010 (GRCm39) |
missense |
probably benign |
0.00 |
R0001:Pcdhb11
|
UTSW |
18 |
37,557,042 (GRCm39) |
missense |
probably benign |
0.06 |
R0383:Pcdhb11
|
UTSW |
18 |
37,556,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R0422:Pcdhb11
|
UTSW |
18 |
37,554,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R0427:Pcdhb11
|
UTSW |
18 |
37,555,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R0542:Pcdhb11
|
UTSW |
18 |
37,556,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R0620:Pcdhb11
|
UTSW |
18 |
37,554,864 (GRCm39) |
nonsense |
probably null |
|
R1014:Pcdhb11
|
UTSW |
18 |
37,556,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R1277:Pcdhb11
|
UTSW |
18 |
37,554,769 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2034:Pcdhb11
|
UTSW |
18 |
37,555,546 (GRCm39) |
missense |
probably benign |
0.00 |
R2142:Pcdhb11
|
UTSW |
18 |
37,555,176 (GRCm39) |
missense |
probably benign |
0.28 |
R2496:Pcdhb11
|
UTSW |
18 |
37,555,375 (GRCm39) |
missense |
probably benign |
0.30 |
R3077:Pcdhb11
|
UTSW |
18 |
37,555,297 (GRCm39) |
missense |
probably benign |
0.08 |
R4560:Pcdhb11
|
UTSW |
18 |
37,556,787 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4590:Pcdhb11
|
UTSW |
18 |
37,555,549 (GRCm39) |
missense |
probably damaging |
0.98 |
R4642:Pcdhb11
|
UTSW |
18 |
37,555,021 (GRCm39) |
missense |
probably benign |
0.01 |
R4729:Pcdhb11
|
UTSW |
18 |
37,555,419 (GRCm39) |
nonsense |
probably null |
|
R5012:Pcdhb11
|
UTSW |
18 |
37,556,029 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5364:Pcdhb11
|
UTSW |
18 |
37,555,232 (GRCm39) |
missense |
probably benign |
0.06 |
R5910:Pcdhb11
|
UTSW |
18 |
37,556,796 (GRCm39) |
missense |
probably benign |
0.43 |
R6023:Pcdhb11
|
UTSW |
18 |
37,555,978 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6106:Pcdhb11
|
UTSW |
18 |
37,556,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R6254:Pcdhb11
|
UTSW |
18 |
37,554,771 (GRCm39) |
missense |
probably damaging |
0.99 |
R6276:Pcdhb11
|
UTSW |
18 |
37,554,813 (GRCm39) |
missense |
probably benign |
0.36 |
R6360:Pcdhb11
|
UTSW |
18 |
37,555,212 (GRCm39) |
missense |
probably benign |
|
R6699:Pcdhb11
|
UTSW |
18 |
37,555,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R6732:Pcdhb11
|
UTSW |
18 |
37,555,197 (GRCm39) |
missense |
probably benign |
|
R6760:Pcdhb11
|
UTSW |
18 |
37,554,637 (GRCm39) |
intron |
probably benign |
|
R6916:Pcdhb11
|
UTSW |
18 |
37,555,434 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7130:Pcdhb11
|
UTSW |
18 |
37,556,559 (GRCm39) |
missense |
probably benign |
0.04 |
R7267:Pcdhb11
|
UTSW |
18 |
37,555,006 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7426:Pcdhb11
|
UTSW |
18 |
37,556,313 (GRCm39) |
missense |
probably damaging |
0.99 |
R7444:Pcdhb11
|
UTSW |
18 |
37,555,672 (GRCm39) |
missense |
probably damaging |
0.98 |
R7492:Pcdhb11
|
UTSW |
18 |
37,556,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R7504:Pcdhb11
|
UTSW |
18 |
37,554,852 (GRCm39) |
missense |
probably benign |
|
R7537:Pcdhb11
|
UTSW |
18 |
37,554,672 (GRCm39) |
start codon destroyed |
possibly damaging |
0.88 |
R7728:Pcdhb11
|
UTSW |
18 |
37,556,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R7817:Pcdhb11
|
UTSW |
18 |
37,556,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R8071:Pcdhb11
|
UTSW |
18 |
37,555,422 (GRCm39) |
missense |
probably benign |
0.02 |
R8229:Pcdhb11
|
UTSW |
18 |
37,555,671 (GRCm39) |
missense |
probably benign |
0.00 |
R8254:Pcdhb11
|
UTSW |
18 |
37,555,242 (GRCm39) |
missense |
probably benign |
0.45 |
R8356:Pcdhb11
|
UTSW |
18 |
37,555,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R8739:Pcdhb11
|
UTSW |
18 |
37,555,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R8957:Pcdhb11
|
UTSW |
18 |
37,555,872 (GRCm39) |
missense |
probably benign |
0.09 |
R8957:Pcdhb11
|
UTSW |
18 |
37,554,692 (GRCm39) |
missense |
probably benign |
0.43 |
R8964:Pcdhb11
|
UTSW |
18 |
37,556,660 (GRCm39) |
missense |
probably benign |
0.00 |
R8966:Pcdhb11
|
UTSW |
18 |
37,556,037 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9188:Pcdhb11
|
UTSW |
18 |
37,556,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R9253:Pcdhb11
|
UTSW |
18 |
37,554,529 (GRCm39) |
intron |
probably benign |
|
R9632:Pcdhb11
|
UTSW |
18 |
37,556,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGTTCAGAACTACACAGTCAGTCC -3'
(R):5'- GCGTTGTCATTCACATCCAACACC -3'
Sequencing Primer
(F):5'- ATTACTCACAGTCGCTCAGATGG -3'
(R):5'- TCCAACACCTGTATAACCACAGTG -3'
|
Posted On |
2013-05-09 |