Incidental Mutation 'IGL02674:Pcdhb11'
ID |
303030 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pcdhb11
|
Ensembl Gene |
ENSMUSG00000051486 |
Gene Name |
protocadherin beta 11 |
Synonyms |
PcdhbK, Pcdhb5E |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL02674
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
37554471-37558085 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37556667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 666
(S666P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053073]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
Q91UZ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053073
AA Change: S666P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056148 Gene: ENSMUSG00000051486 AA Change: S666P
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
T |
C |
15: 72,983,643 (GRCm39) |
R689G |
probably damaging |
Het |
Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
Akna |
A |
T |
4: 63,289,181 (GRCm39) |
C1247* |
probably null |
Het |
Appl1 |
T |
G |
14: 26,671,418 (GRCm39) |
T345P |
possibly damaging |
Het |
Chga |
A |
G |
12: 102,529,160 (GRCm39) |
D379G |
probably damaging |
Het |
Chrna6 |
C |
T |
8: 27,896,879 (GRCm39) |
A333T |
probably benign |
Het |
Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,370,688 (GRCm39) |
Q4656R |
probably benign |
Het |
Dock9 |
A |
C |
14: 121,833,023 (GRCm39) |
|
probably null |
Het |
Fat4 |
A |
G |
3: 39,037,486 (GRCm39) |
N3713D |
probably benign |
Het |
Fsd1 |
A |
T |
17: 56,303,483 (GRCm39) |
T452S |
probably benign |
Het |
G6pc2 |
A |
G |
2: 69,056,910 (GRCm39) |
|
probably null |
Het |
Gfus |
T |
C |
15: 75,798,238 (GRCm39) |
D178G |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,874,913 (GRCm39) |
T288A |
probably benign |
Het |
Kcnh4 |
C |
A |
11: 100,637,720 (GRCm39) |
V646L |
possibly damaging |
Het |
Kcnk1 |
T |
C |
8: 126,751,753 (GRCm39) |
Y120H |
probably damaging |
Het |
L3mbtl3 |
C |
T |
10: 26,158,711 (GRCm39) |
E646K |
unknown |
Het |
Lrrc4c |
T |
C |
2: 97,460,120 (GRCm39) |
W249R |
probably damaging |
Het |
Meox1 |
A |
T |
11: 101,784,767 (GRCm39) |
L22H |
probably damaging |
Het |
Mrgpra4 |
C |
T |
7: 47,630,690 (GRCm39) |
V304M |
probably benign |
Het |
Ncaph |
T |
C |
2: 126,955,496 (GRCm39) |
Y554C |
probably damaging |
Het |
Nfx1 |
T |
C |
4: 40,999,717 (GRCm39) |
|
probably null |
Het |
Or10p1 |
A |
C |
10: 129,443,939 (GRCm39) |
M137R |
possibly damaging |
Het |
Or8g37 |
A |
G |
9: 39,730,934 (GRCm39) |
|
probably null |
Het |
Otol1 |
C |
T |
3: 69,926,077 (GRCm39) |
P84L |
probably benign |
Het |
Pou2f3 |
T |
C |
9: 43,050,628 (GRCm39) |
K244R |
probably damaging |
Het |
Ppp6r1 |
T |
C |
7: 4,649,812 (GRCm39) |
N51S |
probably damaging |
Het |
Prdm4 |
A |
T |
10: 85,729,263 (GRCm39) |
L715M |
probably damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Rsc1a1 |
G |
T |
4: 141,411,406 (GRCm39) |
P502Q |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,954,840 (GRCm39) |
E448G |
probably damaging |
Het |
Shd |
A |
G |
17: 56,278,554 (GRCm39) |
D39G |
possibly damaging |
Het |
Skint5 |
A |
C |
4: 113,487,582 (GRCm39) |
|
probably benign |
Het |
Tmprss15 |
T |
G |
16: 78,798,682 (GRCm39) |
T667P |
possibly damaging |
Het |
Vps13b |
A |
T |
15: 35,640,104 (GRCm39) |
M1325L |
probably benign |
Het |
Zfp263 |
T |
C |
16: 3,564,629 (GRCm39) |
|
probably benign |
Het |
Zfp786 |
A |
G |
6: 47,797,427 (GRCm39) |
F504L |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |