Incidental Mutation 'R8356:Pcdhb11'
| ID |
660366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb11
|
| Ensembl Gene |
ENSMUSG00000051486 |
| Gene Name |
protocadherin beta 11 |
| Synonyms |
PcdhbK, Pcdhb5E |
| MMRRC Submission |
067870-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R8356 (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 A
at 37555252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 194
(L194Q)
|
| 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: L194Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: L194Q
| 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 |
0.5344 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
A |
5: 113,861,868 (GRCm39) |
M1L |
unknown |
Het |
| Abcc9 |
A |
T |
6: 142,536,096 (GRCm39) |
M1546K |
probably benign |
Het |
| Acbd3 |
T |
C |
1: 180,553,881 (GRCm39) |
M72T |
probably benign |
Het |
| Adam6a |
T |
G |
12: 113,509,757 (GRCm39) |
L710R |
probably benign |
Het |
| Aldh4a1 |
T |
C |
4: 139,365,833 (GRCm39) |
S275P |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,568,737 (GRCm39) |
L47Q |
probably damaging |
Het |
| Arhgap19 |
G |
A |
19: 41,762,615 (GRCm39) |
R414C |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,526,003 (GRCm39) |
S572P |
probably benign |
Het |
| Cdk10 |
G |
A |
8: 123,955,096 (GRCm39) |
R78H |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,320,847 (GRCm39) |
R655H |
possibly damaging |
Het |
| Cntnap2 |
T |
A |
6: 47,026,307 (GRCm39) |
H44Q |
probably benign |
Het |
| Cpped1 |
A |
T |
16: 11,712,793 (GRCm39) |
C32* |
probably null |
Het |
| Ddi1 |
A |
G |
9: 6,266,249 (GRCm39) |
V40A |
probably benign |
Het |
| Ddx50 |
T |
C |
10: 62,457,287 (GRCm39) |
T588A |
probably benign |
Het |
| Degs2 |
A |
G |
12: 108,658,223 (GRCm39) |
I252T |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,994,972 (GRCm39) |
V2762I |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,444,313 (GRCm39) |
D4037G |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,444,469 (GRCm39) |
A4089V |
probably null |
Het |
| Dthd1 |
A |
T |
5: 63,007,081 (GRCm39) |
D594V |
probably damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,742,781 (GRCm39) |
M466K |
probably benign |
Het |
| Erich2 |
A |
T |
2: 70,357,873 (GRCm39) |
|
probably null |
Het |
| Fam221b |
T |
C |
4: 43,665,519 (GRCm39) |
D313G |
probably benign |
Het |
| Fbxl22 |
T |
C |
9: 66,421,732 (GRCm39) |
D35G |
possibly damaging |
Het |
| Ggcx |
A |
G |
6: 72,406,574 (GRCm39) |
E679G |
probably benign |
Het |
| Gm14295 |
A |
G |
2: 176,501,307 (GRCm39) |
T266A |
probably benign |
Het |
| Hnrnpa1 |
A |
G |
15: 103,150,529 (GRCm39) |
D160G |
probably null |
Het |
| Hnrnpul1 |
T |
C |
7: 25,422,247 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,259,756 (GRCm39) |
E2576G |
possibly damaging |
Het |
| Ifit2 |
T |
A |
19: 34,550,908 (GRCm39) |
C149* |
probably null |
Het |
| Il18rap |
T |
A |
1: 40,564,084 (GRCm39) |
S67R |
probably benign |
Het |
| Kcnk4 |
T |
G |
19: 6,903,668 (GRCm39) |
S294R |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,100,683 (GRCm39) |
H1588R |
probably damaging |
Het |
| Klhl35 |
A |
T |
7: 99,122,129 (GRCm39) |
S77C |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,934,867 (GRCm39) |
M228K |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,662,256 (GRCm39) |
D587G |
probably benign |
Het |
| Lrrd1 |
C |
A |
5: 3,916,509 (GRCm39) |
T842K |
probably benign |
Het |
| Mafb |
G |
A |
2: 160,208,125 (GRCm39) |
H158Y |
probably benign |
Het |
| Mapk8ip3 |
T |
A |
17: 25,123,925 (GRCm39) |
E561D |
probably damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,717,542 (GRCm39) |
T158A |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,794,463 (GRCm39) |
E1214V |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,570,074 (GRCm39) |
I815T |
unknown |
Het |
| Ncoa6 |
T |
A |
2: 155,248,172 (GRCm39) |
I1711L |
possibly damaging |
Het |
| Neo1 |
G |
A |
9: 58,785,402 (GRCm39) |
T1408M |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,571,901 (GRCm39) |
V282D |
probably damaging |
Het |
| Nnt |
A |
C |
13: 119,476,368 (GRCm39) |
F632C |
probably damaging |
Het |
| Nup210 |
G |
A |
6: 91,051,330 (GRCm39) |
T351I |
probably benign |
Het |
| Or4f59 |
A |
G |
2: 111,872,943 (GRCm39) |
S145P |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,934 (GRCm39) |
S2P |
probably benign |
Het |
| P4ha1 |
C |
T |
10: 59,191,185 (GRCm39) |
T364I |
probably damaging |
Het |
| Pramel52-ps |
A |
G |
5: 94,531,703 (GRCm39) |
K196E |
probably damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,901,879 (GRCm39) |
|
probably null |
Het |
| Rbm11 |
G |
A |
16: 75,397,694 (GRCm39) |
R208K |
probably benign |
Het |
| Rps6ka1 |
T |
A |
4: 133,587,368 (GRCm39) |
Q535L |
possibly damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,516,505 (GRCm39) |
D621G |
probably benign |
Het |
| Sox10 |
T |
G |
15: 79,040,652 (GRCm39) |
E296A |
probably damaging |
Het |
| St3gal4 |
A |
C |
9: 34,964,438 (GRCm39) |
V188G |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,178 (GRCm39) |
I327F |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Zc2hc1c |
A |
G |
12: 85,337,471 (GRCm39) |
E376G |
probably damaging |
Het |
| Zfp423 |
G |
A |
8: 88,509,910 (GRCm39) |
P77S |
probably damaging |
Het |
| Zfp560 |
A |
T |
9: 20,260,231 (GRCm39) |
S210R |
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 |
|
R8254:Pcdhb11
|
UTSW |
18 |
37,555,242 (GRCm39) |
missense |
probably benign |
0.45 |
|
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'- GGAAAACCCTGTGCAGTTCTTC -3'
(R):5'- CTGCACCTCATAGAGTGACTG -3'
Sequencing Primer
(F):5'- TCTCCAGAGTTCCCTGACAGG -3'
(R):5'- GCACCTCATAGAGTGACTGTATAAAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation