Incidental Mutation 'R4394:Pcdhb8'
ID |
326564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb8
|
Ensembl Gene |
ENSMUSG00000045876 |
Gene Name |
protocadherin beta 8 |
Synonyms |
PcdhbH, Pcdhb5C |
MMRRC Submission |
041683-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R4394 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37488324-37490663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 37489935 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 538
(P538S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054371
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051163]
[ENSMUST00000115661]
[ENSMUST00000192867]
[ENSMUST00000194544]
|
AlphaFold |
Q91XZ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051163
AA Change: P538S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000054371 Gene: ENSMUSG00000045876 AA Change: P538S
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
A |
G |
6: 88,813,566 (GRCm39) |
F391L |
probably damaging |
Het |
AC140205.10 |
C |
A |
8: 21,323,181 (GRCm39) |
T192K |
probably benign |
Het |
Arid4b |
T |
A |
13: 14,329,557 (GRCm39) |
|
probably null |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Brip1 |
A |
T |
11: 85,965,124 (GRCm39) |
N855K |
possibly damaging |
Het |
Ces2f |
A |
G |
8: 105,677,586 (GRCm39) |
N197S |
probably damaging |
Het |
Chd4 |
A |
G |
6: 125,098,581 (GRCm39) |
T1520A |
probably damaging |
Het |
Cltc |
A |
C |
11: 86,624,456 (GRCm39) |
N159K |
probably damaging |
Het |
Cntn1 |
C |
T |
15: 92,189,645 (GRCm39) |
T656I |
probably damaging |
Het |
Crybg3 |
A |
G |
16: 59,380,458 (GRCm39) |
|
probably benign |
Het |
Dzip1l |
T |
A |
9: 99,521,907 (GRCm39) |
L181H |
probably damaging |
Het |
Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,834,088 (GRCm39) |
I4168T |
probably benign |
Het |
Fbxw20 |
T |
C |
9: 109,061,398 (GRCm39) |
D117G |
probably benign |
Het |
Gm8122 |
A |
G |
14: 43,091,525 (GRCm39) |
L81P |
unknown |
Het |
Hal |
T |
C |
10: 93,332,421 (GRCm39) |
|
probably benign |
Het |
Hgf |
T |
A |
5: 16,823,949 (GRCm39) |
Y715* |
probably null |
Het |
Hid1 |
T |
A |
11: 115,258,468 (GRCm39) |
|
probably benign |
Het |
Hyou1 |
T |
A |
9: 44,293,169 (GRCm39) |
V125E |
probably damaging |
Het |
Jrkl |
G |
A |
9: 13,245,146 (GRCm39) |
Q172* |
probably null |
Het |
Lamc3 |
A |
G |
2: 31,821,964 (GRCm39) |
E1304G |
probably benign |
Het |
Lman2l |
A |
C |
1: 36,478,804 (GRCm39) |
C103G |
probably damaging |
Het |
Lrfn5 |
T |
C |
12: 61,890,276 (GRCm39) |
S522P |
probably damaging |
Het |
Mark3 |
A |
T |
12: 111,570,957 (GRCm39) |
I86L |
possibly damaging |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Mgst2 |
G |
A |
3: 51,571,949 (GRCm39) |
V26I |
probably damaging |
Het |
Neb |
A |
T |
2: 52,077,525 (GRCm39) |
Y158* |
probably null |
Het |
Nipbl |
T |
C |
15: 8,391,345 (GRCm39) |
I210V |
probably benign |
Het |
Or7g18 |
A |
T |
9: 18,786,907 (GRCm39) |
I95L |
probably damaging |
Het |
Or8j3b |
C |
T |
2: 86,205,523 (GRCm39) |
A78T |
possibly damaging |
Het |
Postn |
A |
G |
3: 54,278,376 (GRCm39) |
D295G |
probably damaging |
Het |
Prss38 |
T |
C |
11: 59,263,854 (GRCm39) |
Y286C |
probably damaging |
Het |
Psen2 |
A |
T |
1: 180,068,347 (GRCm39) |
V102E |
probably damaging |
Het |
Ptpn9 |
A |
T |
9: 56,943,847 (GRCm39) |
K126N |
possibly damaging |
Het |
Ptprd |
A |
G |
4: 76,046,922 (GRCm39) |
I435T |
probably damaging |
Het |
Rab39 |
T |
C |
9: 53,597,950 (GRCm39) |
K105R |
probably benign |
Het |
Robo2 |
C |
A |
16: 73,745,267 (GRCm39) |
R840L |
probably benign |
Het |
Rps6ka5 |
T |
A |
12: 100,547,578 (GRCm39) |
I311F |
probably damaging |
Het |
Ryr1 |
G |
T |
7: 28,793,667 (GRCm39) |
T1267K |
possibly damaging |
Het |
Sis |
G |
A |
3: 72,863,482 (GRCm39) |
T252I |
probably damaging |
Het |
Slc41a3 |
A |
T |
6: 90,612,312 (GRCm39) |
S201C |
probably damaging |
Het |
Slitrk1 |
A |
C |
14: 109,148,735 (GRCm39) |
S659A |
probably benign |
Het |
Snx25 |
A |
T |
8: 46,488,715 (GRCm39) |
M880K |
probably damaging |
Het |
Tbxas1 |
C |
T |
6: 39,004,713 (GRCm39) |
T320I |
probably benign |
Het |
Tex44 |
T |
C |
1: 86,355,489 (GRCm39) |
V466A |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
Tpst1 |
T |
A |
5: 130,131,343 (GRCm39) |
M271K |
probably benign |
Het |
Trank1 |
C |
T |
9: 111,194,265 (GRCm39) |
T763I |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,703,462 (GRCm39) |
H729Q |
probably damaging |
Het |
Tshz3 |
A |
T |
7: 36,469,030 (GRCm39) |
T340S |
probably damaging |
Het |
Ttc5 |
T |
C |
14: 51,018,962 (GRCm39) |
K52E |
probably benign |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Wsb2 |
T |
G |
5: 117,501,643 (GRCm39) |
|
probably benign |
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 |
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 |
R9387:Pcdhb8
|
UTSW |
18 |
37,488,751 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCACATAGGCACCATCAG -3'
(R):5'- CCTTGAGCAGCTGGAATGAC -3'
Sequencing Primer
(F):5'- GACTCAGACTCTGGCTCCAATG -3'
(R):5'- ATGACAGCCAGGCATTCTG -3'
|
Posted On |
2015-07-06 |