Incidental Mutation 'IGL03189:Pcdhb6'
| ID |
412550 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcdhb6
|
| Ensembl Gene |
ENSMUSG00000051678 |
| Gene Name |
protocadherin beta 6 |
| Synonyms |
Pcdhb5B, PcdhbF |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
IGL03189
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37466913-37470491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37469205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 25
(V25M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061717]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000194655]
|
| AlphaFold |
Q91XZ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061717
AA Change: V709M
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: V709M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
30 |
112 |
2.7e-33 |
PFAM |
|
CA
|
155 |
240 |
1.48e-22 |
SMART |
|
CA
|
264 |
344 |
3.02e-28 |
SMART |
|
CA
|
367 |
448 |
1.69e-22 |
SMART |
|
CA
|
472 |
558 |
1.65e-25 |
SMART |
|
CA
|
588 |
669 |
6.24e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.7e-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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194655
AA Change: V25M
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141773
Gene: ENSMUSG00000051678
AA Change: V25M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
1 |
60 |
2e-11 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
G |
5: 8,895,814 (GRCm39) |
T916A |
probably benign |
Het |
| Adam22 |
A |
T |
5: 8,161,897 (GRCm39) |
Y50* |
probably null |
Het |
| Adprs |
T |
C |
4: 126,211,087 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,988,603 (GRCm39) |
V3296M |
possibly damaging |
Het |
| Bfar |
A |
G |
16: 13,505,365 (GRCm39) |
D125G |
possibly damaging |
Het |
| Bmp3 |
A |
T |
5: 99,020,579 (GRCm39) |
Q334L |
probably benign |
Het |
| Camsap2 |
A |
T |
1: 136,209,400 (GRCm39) |
D697E |
probably damaging |
Het |
| Car11 |
A |
G |
7: 45,351,879 (GRCm39) |
T103A |
probably damaging |
Het |
| Cecr2 |
T |
A |
6: 120,739,391 (GRCm39) |
S1373T |
probably benign |
Het |
| Cenpm |
A |
G |
15: 82,118,634 (GRCm39) |
V160A |
possibly damaging |
Het |
| Chl1 |
A |
T |
6: 103,660,168 (GRCm39) |
I365F |
possibly damaging |
Het |
| Col20a1 |
C |
T |
2: 180,651,200 (GRCm39) |
Q1089* |
probably null |
Het |
| Csf1r |
A |
T |
18: 61,239,058 (GRCm39) |
T13S |
probably benign |
Het |
| Fam13a |
T |
C |
6: 58,933,843 (GRCm39) |
E249G |
probably damaging |
Het |
| Fgd6 |
G |
A |
10: 93,880,318 (GRCm39) |
V391I |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,362,368 (GRCm39) |
|
probably benign |
Het |
| Fn3krp |
T |
C |
11: 121,320,456 (GRCm39) |
I267T |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,890,930 (GRCm39) |
I2820F |
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,872,939 (GRCm39) |
I771V |
probably damaging |
Het |
| Gata3os |
A |
G |
2: 9,888,634 (GRCm39) |
|
probably benign |
Het |
| Glis1 |
A |
G |
4: 107,472,248 (GRCm39) |
Y275C |
probably damaging |
Het |
| Hdgf |
A |
G |
3: 87,820,735 (GRCm39) |
T62A |
possibly damaging |
Het |
| Hsd17b3 |
C |
T |
13: 64,210,901 (GRCm39) |
|
probably null |
Het |
| Ift56 |
C |
T |
6: 38,402,166 (GRCm39) |
P553S |
probably benign |
Het |
| Iqgap1 |
T |
A |
7: 80,363,590 (GRCm39) |
Y1655F |
probably benign |
Het |
| Izumo1 |
A |
G |
7: 45,274,588 (GRCm39) |
D181G |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,268,822 (GRCm39) |
|
probably benign |
Het |
| Mark1 |
T |
C |
1: 184,651,890 (GRCm39) |
N95S |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,147,763 (GRCm39) |
K658E |
probably damaging |
Het |
| Mcm6 |
C |
T |
1: 128,272,039 (GRCm39) |
D453N |
probably damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,435,504 (GRCm39) |
D187G |
probably benign |
Het |
| Mrpl19 |
G |
T |
6: 81,938,974 (GRCm39) |
S276* |
probably null |
Het |
| Ncoa2 |
G |
A |
1: 13,260,360 (GRCm39) |
T105M |
probably damaging |
Het |
| Nop14 |
A |
G |
5: 34,807,972 (GRCm39) |
|
probably benign |
Het |
| Or2ah1 |
A |
G |
2: 85,653,902 (GRCm39) |
T196A |
probably benign |
Het |
| Or2aj5 |
T |
C |
16: 19,425,341 (GRCm39) |
T26A |
probably benign |
Het |
| Or5w19 |
G |
A |
2: 87,698,559 (GRCm39) |
A75T |
possibly damaging |
Het |
| Otud7b |
G |
A |
3: 96,062,795 (GRCm39) |
S678N |
probably benign |
Het |
| Prpf39 |
G |
T |
12: 65,090,076 (GRCm39) |
G5* |
probably null |
Het |
| Serpinb9d |
T |
C |
13: 33,386,895 (GRCm39) |
V321A |
probably damaging |
Het |
| Sh2b1 |
A |
G |
7: 126,067,702 (GRCm39) |
S613P |
possibly damaging |
Het |
| Snx30 |
T |
C |
4: 59,857,452 (GRCm39) |
I55T |
probably benign |
Het |
| Spata13 |
T |
C |
14: 60,929,063 (GRCm39) |
I207T |
possibly damaging |
Het |
| Suco |
T |
C |
1: 161,684,906 (GRCm39) |
|
probably benign |
Het |
| Svs5 |
A |
G |
2: 164,079,032 (GRCm39) |
S292P |
possibly damaging |
Het |
| Tcam1 |
A |
G |
11: 106,176,212 (GRCm39) |
I313V |
probably benign |
Het |
| Tmem45a |
A |
T |
16: 56,631,936 (GRCm39) |
Y227* |
probably null |
Het |
| Tnfsf15 |
A |
G |
4: 63,648,289 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
C |
A |
3: 64,296,589 (GRCm39) |
R732L |
possibly damaging |
Het |
| Wdr7 |
C |
T |
18: 63,893,672 (GRCm39) |
T602I |
probably benign |
Het |
|
| Other mutations in Pcdhb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Pcdhb6
|
APN |
18 |
37,467,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Pcdhb6
|
APN |
18 |
37,468,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02491:Pcdhb6
|
APN |
18 |
37,468,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02496:Pcdhb6
|
APN |
18 |
37,468,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Pcdhb6
|
APN |
18 |
37,467,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03130:Pcdhb6
|
APN |
18 |
37,468,640 (GRCm39) |
nonsense |
probably null |
|
|
IGL03144:Pcdhb6
|
APN |
18 |
37,467,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03203:Pcdhb6
|
APN |
18 |
37,467,585 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03388:Pcdhb6
|
APN |
18 |
37,469,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4445001:Pcdhb6
|
UTSW |
18 |
37,468,300 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0571:Pcdhb6
|
UTSW |
18 |
37,468,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0734:Pcdhb6
|
UTSW |
18 |
37,468,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1727:Pcdhb6
|
UTSW |
18 |
37,467,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Pcdhb6
|
UTSW |
18 |
37,468,633 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2207:Pcdhb6
|
UTSW |
18 |
37,468,633 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2303:Pcdhb6
|
UTSW |
18 |
37,469,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2401:Pcdhb6
|
UTSW |
18 |
37,468,222 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3409:Pcdhb6
|
UTSW |
18 |
37,468,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3411:Pcdhb6
|
UTSW |
18 |
37,468,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3625:Pcdhb6
|
UTSW |
18 |
37,469,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3716:Pcdhb6
|
UTSW |
18 |
37,469,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4745:Pcdhb6
|
UTSW |
18 |
37,468,426 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4821:Pcdhb6
|
UTSW |
18 |
37,467,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5218:Pcdhb6
|
UTSW |
18 |
37,467,388 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5465:Pcdhb6
|
UTSW |
18 |
37,467,783 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5522:Pcdhb6
|
UTSW |
18 |
37,467,402 (GRCm39) |
missense |
probably benign |
|
|
R5556:Pcdhb6
|
UTSW |
18 |
37,467,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5703:Pcdhb6
|
UTSW |
18 |
37,467,753 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6154:Pcdhb6
|
UTSW |
18 |
37,467,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6256:Pcdhb6
|
UTSW |
18 |
37,468,978 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6304:Pcdhb6
|
UTSW |
18 |
37,468,974 (GRCm39) |
nonsense |
probably null |
|
|
R6528:Pcdhb6
|
UTSW |
18 |
37,467,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6883:Pcdhb6
|
UTSW |
18 |
37,468,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7045:Pcdhb6
|
UTSW |
18 |
37,469,329 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7307:Pcdhb6
|
UTSW |
18 |
37,468,531 (GRCm39) |
missense |
probably benign |
|
|
R7313:Pcdhb6
|
UTSW |
18 |
37,468,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7378:Pcdhb6
|
UTSW |
18 |
37,468,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Pcdhb6
|
UTSW |
18 |
37,468,332 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7606:Pcdhb6
|
UTSW |
18 |
37,468,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7701:Pcdhb6
|
UTSW |
18 |
37,467,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7830:Pcdhb6
|
UTSW |
18 |
37,469,365 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7905:Pcdhb6
|
UTSW |
18 |
37,467,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7982:Pcdhb6
|
UTSW |
18 |
37,467,273 (GRCm39) |
nonsense |
probably null |
|
|
R8818:Pcdhb6
|
UTSW |
18 |
37,468,837 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8917:Pcdhb6
|
UTSW |
18 |
37,468,431 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9397:Pcdhb6
|
UTSW |
18 |
37,469,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Pcdhb6
|
UTSW |
18 |
37,468,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation