Incidental Mutation 'R9387:Pcdhb8'
| ID |
710405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb8
|
| Ensembl Gene |
ENSMUSG00000045876 |
| Gene Name |
protocadherin beta 8 |
| Synonyms |
PcdhbH, Pcdhb5C |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R9387 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37488324-37490663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37488751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 143
(Q143L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051163]
[ENSMUST00000115661]
[ENSMUST00000192867]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051163
AA Change: Q143L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: Q143L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
30 |
112 |
6.6e-33 |
PFAM |
|
CA
|
155 |
240 |
7.79e-22 |
SMART |
|
CA
|
264 |
344 |
3.02e-28 |
SMART |
|
CA
|
367 |
448 |
1.14e-23 |
SMART |
|
CA
|
472 |
558 |
9.51e-26 |
SMART |
|
CA
|
588 |
669 |
5.65e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
1.1e-27 |
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: ENSMUST00000192867
|
| SMART Domains |
Protein: ENSMUSP00000141814
Gene: ENSMUSG00000045876
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
26 |
104 |
7e-18 |
SMART |
|
| 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: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,553,255 (GRCm39) |
D152G |
probably benign |
Het |
| Abcb1b |
G |
A |
5: 8,875,614 (GRCm39) |
V596I |
probably benign |
Het |
| Acss3 |
A |
G |
10: 106,959,255 (GRCm39) |
S64P |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,507,461 (GRCm39) |
Y108C |
probably damaging |
Het |
| Arpc5l |
T |
C |
2: 38,903,195 (GRCm39) |
V73A |
probably benign |
Het |
| Atp5f1d |
A |
G |
10: 79,981,134 (GRCm39) |
D126G |
probably damaging |
Het |
| Carmil3 |
T |
A |
14: 55,731,869 (GRCm39) |
L199* |
probably null |
Het |
| Cblb |
A |
G |
16: 51,853,515 (GRCm39) |
R44G |
probably benign |
Het |
| Cdcp3 |
A |
G |
7: 130,863,620 (GRCm39) |
I1208V |
unknown |
Het |
| Chaf1b |
T |
G |
16: 93,689,629 (GRCm39) |
F225V |
probably benign |
Het |
| Creb3l2 |
A |
T |
6: 37,356,751 (GRCm39) |
N105K |
probably damaging |
Het |
| Dagla |
A |
T |
19: 10,248,465 (GRCm39) |
I65N |
probably damaging |
Het |
| Dclre1c |
T |
G |
2: 3,425,342 (GRCm39) |
F30V |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,695,499 (GRCm39) |
V144A |
possibly damaging |
Het |
| Dlg5 |
C |
T |
14: 24,197,168 (GRCm39) |
G1593D |
probably damaging |
Het |
| Enpp3 |
A |
T |
10: 24,711,990 (GRCm39) |
M1K |
probably null |
Het |
| Fmod |
C |
A |
1: 133,968,514 (GRCm39) |
H185N |
probably benign |
Het |
| Gon4l |
A |
G |
3: 88,802,260 (GRCm39) |
E957G |
probably benign |
Het |
| Hat1 |
A |
G |
2: 71,264,512 (GRCm39) |
M310V |
possibly damaging |
Het |
| Klhl31 |
A |
T |
9: 77,557,826 (GRCm39) |
T181S |
probably benign |
Het |
| Krt36 |
T |
A |
11: 99,994,906 (GRCm39) |
E222V |
probably damaging |
Het |
| Lrrc27 |
A |
T |
7: 138,807,837 (GRCm39) |
K315* |
probably null |
Het |
| Mak16 |
T |
G |
8: 31,650,794 (GRCm39) |
D232A |
probably damaging |
Het |
| Mepce |
A |
G |
5: 137,783,322 (GRCm39) |
S335P |
possibly damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,378 (GRCm39) |
R885S |
probably damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,935,176 (GRCm39) |
W224* |
probably null |
Het |
| Mroh8 |
T |
A |
2: 157,098,386 (GRCm39) |
Q254L |
possibly damaging |
Het |
| Mup18 |
A |
T |
4: 61,590,854 (GRCm39) |
V101E |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,898,460 (GRCm39) |
K1508R |
probably benign |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Or5g9 |
A |
G |
2: 85,551,806 (GRCm39) |
Y19C |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,066,192 (GRCm39) |
I286F |
probably damaging |
Het |
| Pibf1 |
T |
C |
14: 99,448,436 (GRCm39) |
S632P |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 79,999,646 (GRCm39) |
K100R |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,750,864 (GRCm39) |
S81P |
probably damaging |
Het |
| Sox8 |
T |
C |
17: 25,786,338 (GRCm39) |
Q455R |
probably damaging |
Het |
| Stard13 |
A |
T |
5: 151,113,483 (GRCm39) |
M26K |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,908,778 (GRCm39) |
M597K |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,484,832 (GRCm39) |
D64V |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,589,097 (GRCm39) |
|
probably null |
Het |
| Vav3 |
A |
T |
3: 109,565,291 (GRCm39) |
H729L |
probably benign |
Het |
| Vmn1r226 |
T |
A |
17: 20,907,831 (GRCm39) |
L21Q |
probably damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,036,058 (GRCm39) |
|
probably null |
Het |
| Zfp984 |
A |
G |
4: 147,840,002 (GRCm39) |
M283T |
probably benign |
Het |
| Zik1 |
A |
G |
7: 10,224,623 (GRCm39) |
L158P |
probably damaging |
Het |
|
| Other mutations in Pcdhb8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Pcdhb8
|
APN |
18 |
37,488,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00574:Pcdhb8
|
APN |
18 |
37,489,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00960:Pcdhb8
|
APN |
18 |
37,489,026 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01103:Pcdhb8
|
APN |
18 |
37,490,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01330:Pcdhb8
|
APN |
18 |
37,490,631 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01413:Pcdhb8
|
APN |
18 |
37,489,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01418:Pcdhb8
|
APN |
18 |
37,489,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Pcdhb8
|
APN |
18 |
37,489,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02212:Pcdhb8
|
APN |
18 |
37,489,465 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02582:Pcdhb8
|
APN |
18 |
37,488,427 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02607:Pcdhb8
|
APN |
18 |
37,490,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02882:Pcdhb8
|
APN |
18 |
37,489,276 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03005:Pcdhb8
|
APN |
18 |
37,490,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03108:Pcdhb8
|
APN |
18 |
37,490,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Pcdhb8
|
UTSW |
18 |
37,489,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0104:Pcdhb8
|
UTSW |
18 |
37,488,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0490:Pcdhb8
|
UTSW |
18 |
37,489,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Pcdhb8
|
UTSW |
18 |
37,490,100 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1168:Pcdhb8
|
UTSW |
18 |
37,489,780 (GRCm39) |
missense |
probably benign |
|
|
R1189:Pcdhb8
|
UTSW |
18 |
37,489,620 (GRCm39) |
nonsense |
probably null |
|
|
R1232:Pcdhb8
|
UTSW |
18 |
37,488,828 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1503:Pcdhb8
|
UTSW |
18 |
37,489,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1576:Pcdhb8
|
UTSW |
18 |
37,489,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Pcdhb8
|
UTSW |
18 |
37,488,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Pcdhb8
|
UTSW |
18 |
37,489,015 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1909:Pcdhb8
|
UTSW |
18 |
37,489,015 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2215:Pcdhb8
|
UTSW |
18 |
37,490,127 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3080:Pcdhb8
|
UTSW |
18 |
37,489,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Pcdhb8
|
UTSW |
18 |
37,489,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Pcdhb8
|
UTSW |
18 |
37,488,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4845:Pcdhb8
|
UTSW |
18 |
37,489,771 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4879:Pcdhb8
|
UTSW |
18 |
37,489,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Pcdhb8
|
UTSW |
18 |
37,489,059 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5086:Pcdhb8
|
UTSW |
18 |
37,489,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Pcdhb8
|
UTSW |
18 |
37,490,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Pcdhb8
|
UTSW |
18 |
37,489,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5898:Pcdhb8
|
UTSW |
18 |
37,490,537 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5935:Pcdhb8
|
UTSW |
18 |
37,489,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Pcdhb8
|
UTSW |
18 |
37,489,279 (GRCm39) |
missense |
probably benign |
|
|
R6228:Pcdhb8
|
UTSW |
18 |
37,490,037 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6245:Pcdhb8
|
UTSW |
18 |
37,490,222 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6397:Pcdhb8
|
UTSW |
18 |
37,488,516 (GRCm39) |
nonsense |
probably null |
|
|
R7469:Pcdhb8
|
UTSW |
18 |
37,489,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Pcdhb8
|
UTSW |
18 |
37,488,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8323:Pcdhb8
|
UTSW |
18 |
37,488,476 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8735:Pcdhb8
|
UTSW |
18 |
37,489,975 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8841:Pcdhb8
|
UTSW |
18 |
37,488,699 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8856:Pcdhb8
|
UTSW |
18 |
37,489,776 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9020:Pcdhb8
|
UTSW |
18 |
37,489,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Pcdhb8
|
UTSW |
18 |
37,490,585 (GRCm39) |
nonsense |
probably null |
|
|
R9077:Pcdhb8
|
UTSW |
18 |
37,489,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAACAAAGAGCTCTTGCAG -3'
(R):5'- AAAGTGAGTTCAGGCTGCTC -3'
Sequencing Primer
(F):5'- GAATTTGCTCCTGAAGGAAAAACC -3'
(R):5'- GAGTTCAGGCTGCTCCTCCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation