Incidental Mutation 'IGL03005:Pcdhb8'
ID |
407500 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pcdhb8
|
Ensembl Gene |
ENSMUSG00000045876 |
Gene Name |
protocadherin beta 8 |
Synonyms |
PcdhbH, Pcdhb5C |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
IGL03005
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
37488324-37490663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37490587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 755
(L755Q)
|
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: L755Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054371 Gene: ENSMUSG00000045876 AA Change: L755Q
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt3 |
A |
T |
1: 176,894,793 (GRCm39) |
V268E |
probably damaging |
Het |
Aoc1l1 |
T |
A |
6: 48,953,480 (GRCm39) |
Y468* |
probably null |
Het |
Apob |
A |
G |
12: 8,043,059 (GRCm39) |
|
probably benign |
Het |
Arhgap19 |
T |
C |
19: 41,772,856 (GRCm39) |
|
probably benign |
Het |
C2cd2 |
A |
G |
16: 97,660,632 (GRCm39) |
L672P |
probably damaging |
Het |
Cars1 |
A |
G |
7: 143,112,906 (GRCm39) |
F774L |
probably damaging |
Het |
Cd200r3 |
T |
A |
16: 44,773,973 (GRCm39) |
S128R |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,738,075 (GRCm39) |
N1569S |
probably damaging |
Het |
Chmp7 |
G |
A |
14: 69,957,277 (GRCm39) |
R294C |
probably damaging |
Het |
Col10a1 |
A |
T |
10: 34,271,734 (GRCm39) |
I569F |
probably damaging |
Het |
Cspg4 |
T |
A |
9: 56,795,772 (GRCm39) |
V1169D |
probably damaging |
Het |
Emg1 |
G |
A |
6: 124,681,557 (GRCm39) |
T229I |
probably damaging |
Het |
Fmo9 |
C |
T |
1: 166,502,088 (GRCm39) |
S179N |
probably benign |
Het |
Frem1 |
T |
C |
4: 82,912,371 (GRCm39) |
Y667C |
probably damaging |
Het |
Gpsm2 |
A |
G |
3: 108,594,322 (GRCm39) |
|
probably benign |
Het |
Gsdma |
A |
T |
11: 98,567,085 (GRCm39) |
E395V |
probably damaging |
Het |
Gsdmd |
C |
T |
15: 75,739,015 (GRCm39) |
T464M |
possibly damaging |
Het |
Iqschfp |
C |
A |
3: 68,526,010 (GRCm39) |
Q395K |
possibly damaging |
Het |
Lipo3 |
T |
C |
19: 33,763,136 (GRCm39) |
I36V |
possibly damaging |
Het |
Lrrtm1 |
A |
G |
6: 77,221,139 (GRCm39) |
S199G |
probably damaging |
Het |
Lypla1 |
C |
T |
1: 4,902,613 (GRCm39) |
|
probably benign |
Het |
Mst1r |
C |
T |
9: 107,791,748 (GRCm39) |
Q809* |
probably null |
Het |
Mtr |
T |
A |
13: 12,250,335 (GRCm39) |
|
probably benign |
Het |
Or4a39 |
G |
A |
2: 89,237,315 (GRCm39) |
T36I |
possibly damaging |
Het |
Pax7 |
T |
A |
4: 139,556,007 (GRCm39) |
I156F |
probably damaging |
Het |
Pdzd2 |
G |
A |
15: 12,385,351 (GRCm39) |
P1140S |
probably damaging |
Het |
Pdzrn4 |
T |
C |
15: 92,668,272 (GRCm39) |
L808P |
probably damaging |
Het |
Pex1 |
G |
T |
5: 3,680,292 (GRCm39) |
Q971H |
probably null |
Het |
Pgap6 |
C |
T |
17: 26,337,911 (GRCm39) |
L432F |
probably benign |
Het |
Pld1 |
T |
A |
3: 28,141,402 (GRCm39) |
V655E |
possibly damaging |
Het |
Pnpla3 |
C |
T |
15: 84,058,469 (GRCm39) |
R163W |
probably damaging |
Het |
Rabgef1 |
T |
C |
5: 130,237,638 (GRCm39) |
L237P |
probably damaging |
Het |
Setbp1 |
A |
T |
18: 78,902,340 (GRCm39) |
N442K |
possibly damaging |
Het |
Sorl1 |
T |
G |
9: 41,968,621 (GRCm39) |
D544A |
probably damaging |
Het |
Spire2 |
C |
A |
8: 124,090,107 (GRCm39) |
P490T |
probably benign |
Het |
Zeb1 |
T |
A |
18: 5,767,150 (GRCm39) |
S554T |
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 |
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 |
R9387:Pcdhb8
|
UTSW |
18 |
37,488,751 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |