Incidental Mutation 'R8254:Pcdhb11'
ID |
640670 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb11
|
Ensembl Gene |
ENSMUSG00000051486 |
Gene Name |
protocadherin beta 11 |
Synonyms |
PcdhbK, Pcdhb5E |
MMRRC Submission |
067680-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R8254 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37554471-37558085 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37555242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 191
(Y191H)
|
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: Y191H
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000056148 Gene: ENSMUSG00000051486 AA Change: Y191H
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
T |
C |
4: 144,182,760 (GRCm39) |
Y236C |
probably benign |
Het |
Arhgef2 |
T |
C |
3: 88,549,910 (GRCm39) |
L655P |
probably damaging |
Het |
Brsk2 |
T |
C |
7: 141,538,153 (GRCm39) |
S100P |
probably damaging |
Het |
Calb1 |
A |
G |
4: 15,898,926 (GRCm39) |
T141A |
probably benign |
Het |
Cog6 |
T |
C |
3: 52,900,938 (GRCm39) |
T447A |
probably benign |
Het |
Cyp4f13 |
A |
T |
17: 33,148,907 (GRCm39) |
N279K |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,842,259 (GRCm39) |
D4440G |
possibly damaging |
Het |
Dspp |
A |
T |
5: 104,323,194 (GRCm39) |
E112D |
possibly damaging |
Het |
Fam3c |
T |
A |
6: 22,328,675 (GRCm39) |
T71S |
possibly damaging |
Het |
Fcgbpl1 |
T |
C |
7: 27,846,774 (GRCm39) |
V1119A |
possibly damaging |
Het |
Fdxr |
C |
A |
11: 115,162,144 (GRCm39) |
G188W |
probably damaging |
Het |
Fndc5 |
T |
C |
4: 129,032,514 (GRCm39) |
V39A |
possibly damaging |
Het |
Gm14226 |
T |
C |
2: 154,866,646 (GRCm39) |
I201T |
possibly damaging |
Het |
Grip1 |
C |
T |
10: 119,890,810 (GRCm39) |
Q950* |
probably null |
Het |
Haspin |
A |
T |
11: 73,027,572 (GRCm39) |
Y506N |
probably benign |
Het |
Itga2b |
C |
A |
11: 102,358,212 (GRCm39) |
R171L |
probably benign |
Het |
Kctd2 |
C |
T |
11: 115,311,174 (GRCm39) |
P61S |
unknown |
Het |
Kirrel2 |
A |
G |
7: 30,149,801 (GRCm39) |
|
probably null |
Het |
Ldc1 |
C |
A |
4: 130,114,136 (GRCm39) |
A94S |
probably benign |
Het |
Lmx1b |
A |
G |
2: 33,455,126 (GRCm39) |
F310S |
|
Het |
Map4k4 |
A |
T |
1: 40,045,835 (GRCm39) |
I574F |
probably damaging |
Het |
Nrip1 |
T |
C |
16: 76,088,287 (GRCm39) |
K1090R |
probably benign |
Het |
Ntrk3 |
T |
C |
7: 77,842,326 (GRCm39) |
Y820C |
probably damaging |
Het |
Or5ac25 |
T |
A |
16: 59,182,534 (GRCm39) |
I16L |
probably benign |
Het |
Or5b96 |
T |
C |
19: 12,867,849 (GRCm39) |
T31A |
probably benign |
Het |
Pgm5 |
T |
C |
19: 24,705,089 (GRCm39) |
K475E |
probably benign |
Het |
Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
Psd4 |
A |
T |
2: 24,293,223 (GRCm39) |
D696V |
probably damaging |
Het |
Rere |
T |
C |
4: 150,697,129 (GRCm39) |
F556L |
unknown |
Het |
Sema4f |
A |
T |
6: 82,894,382 (GRCm39) |
C528S |
probably damaging |
Het |
Sorcs2 |
A |
G |
5: 36,195,550 (GRCm39) |
S680P |
probably benign |
Het |
Sv2c |
T |
C |
13: 96,225,073 (GRCm39) |
T79A |
probably damaging |
Het |
Tars3 |
A |
G |
7: 65,325,809 (GRCm39) |
N461S |
probably benign |
Het |
Thada |
T |
C |
17: 84,533,468 (GRCm39) |
N1661S |
probably benign |
Het |
Tubd1 |
A |
T |
11: 86,440,264 (GRCm39) |
Q96L |
probably damaging |
Het |
Vmn2r72 |
T |
C |
7: 85,400,227 (GRCm39) |
D274G |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,709,882 (GRCm39) |
|
probably benign |
Het |
Vwce |
C |
A |
19: 10,627,938 (GRCm39) |
S466Y |
probably damaging |
Het |
Wdr11 |
T |
C |
7: 129,236,560 (GRCm39) |
I1178T |
probably benign |
Het |
Zfp568 |
A |
T |
7: 29,714,558 (GRCm39) |
H145L |
probably benign |
Het |
Zfp606 |
T |
C |
7: 12,226,788 (GRCm39) |
I303T |
possibly damaging |
Het |
Zfp846 |
A |
G |
9: 20,504,587 (GRCm39) |
D149G |
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 |
R0421:Pcdhb11
|
UTSW |
18 |
37,555,533 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
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'- TCTCCAGAGTTCCCTGACAG -3'
(R):5'- CTGGCAGAGACTGTAACAACTAAG -3'
Sequencing Primer
(F):5'- GGGAAATGCTTCTAAAAATCCCTGAG -3'
(R):5'- GAATCTGCACCTCATAGAGTGACTG -3'
|
Posted On |
2020-07-28 |