Incidental Mutation 'R3716:Pcdhb6'
| ID |
259940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb6
|
| Ensembl Gene |
ENSMUSG00000051678 |
| Gene Name |
protocadherin beta 6 |
| Synonyms |
Pcdhb5B, PcdhbF |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R3716 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37466913-37470491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 37469259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 43
(V43L)
|
| 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: V727L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: V727L
| 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 benign
Transcript: ENSMUST00000194655
AA Change: V43L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141773
Gene: ENSMUSG00000051678
AA Change: V43L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
1 |
60 |
2e-11 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
A |
T |
11: 48,910,363 (GRCm39) |
L690H |
probably damaging |
Het |
| Abtb3 |
C |
T |
10: 85,397,392 (GRCm39) |
H442Y |
probably damaging |
Het |
| Acaa1b |
A |
G |
9: 118,985,709 (GRCm39) |
V72A |
probably benign |
Het |
| Actl7a |
T |
C |
4: 56,744,295 (GRCm39) |
L274P |
possibly damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,508,299 (GRCm39) |
E433G |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Canx |
A |
G |
11: 50,195,301 (GRCm39) |
S256P |
probably benign |
Het |
| Caps2 |
A |
G |
10: 112,036,637 (GRCm39) |
H399R |
probably benign |
Het |
| Col6a6 |
A |
C |
9: 105,659,373 (GRCm39) |
L524R |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dglucy |
A |
T |
12: 100,816,375 (GRCm39) |
N339I |
probably damaging |
Het |
| Dhrs4 |
G |
T |
14: 55,716,362 (GRCm39) |
M1I |
probably null |
Het |
| Disp1 |
A |
T |
1: 182,869,315 (GRCm39) |
L1035Q |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 102,071,999 (GRCm39) |
E260G |
probably damaging |
Het |
| Fetub |
T |
A |
16: 22,754,443 (GRCm39) |
C217S |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,784,457 (GRCm39) |
I779M |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,479,781 (GRCm39) |
S1971G |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,648,311 (GRCm39) |
Y142H |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,311,971 (GRCm39) |
H1404Y |
probably damaging |
Het |
| Il21r |
A |
G |
7: 125,231,441 (GRCm39) |
K290E |
probably damaging |
Het |
| Inpp5f |
C |
G |
7: 128,292,394 (GRCm39) |
L17V |
probably damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,130,646 (GRCm39) |
N421S |
possibly damaging |
Het |
| Krt33a |
A |
C |
11: 99,904,991 (GRCm39) |
C172G |
probably benign |
Het |
| Lrp6 |
A |
T |
6: 134,484,410 (GRCm39) |
H404Q |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,367,295 (GRCm39) |
T924A |
probably benign |
Het |
| Mepe |
C |
A |
5: 104,485,294 (GRCm39) |
H145N |
probably benign |
Het |
| Mesp2 |
T |
G |
7: 79,462,542 (GRCm39) |
L366R |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,498,587 (GRCm39) |
L584Q |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,933,174 (GRCm39) |
V997A |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,561,407 (GRCm39) |
E612G |
probably benign |
Het |
| Myo15b |
G |
T |
11: 115,754,239 (GRCm39) |
C913F |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,264,798 (GRCm39) |
V179A |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,973,487 (GRCm39) |
C2157Y |
probably damaging |
Het |
| Or8i2 |
A |
T |
2: 86,852,707 (GRCm39) |
Y60* |
probably null |
Het |
| Orc1 |
C |
T |
4: 108,471,656 (GRCm39) |
A836V |
probably damaging |
Het |
| Prkcd |
G |
T |
14: 30,321,669 (GRCm39) |
D393E |
probably benign |
Het |
| Rb1cc1 |
G |
C |
1: 6,340,914 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
A |
1: 4,419,988 (GRCm39) |
T375S |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,400,582 (GRCm39) |
M731L |
probably benign |
Het |
| Sox21 |
A |
T |
14: 118,472,842 (GRCm39) |
M69K |
probably benign |
Het |
| Spata18 |
A |
T |
5: 73,824,193 (GRCm39) |
|
probably null |
Het |
| Taok1 |
A |
G |
11: 77,432,636 (GRCm39) |
F726L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
| Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,933,389 (GRCm39) |
Y40H |
probably damaging |
Het |
| Usp37 |
A |
T |
1: 74,532,145 (GRCm39) |
S83T |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,802,296 (GRCm39) |
I405T |
probably damaging |
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 |
|
IGL03189:Pcdhb6
|
APN |
18 |
37,469,205 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTTCATGTGCTGCTAGTG -3'
(R):5'- AAACCTGGGTGATCCTAACAC -3'
Sequencing Primer
(F):5'- CTAGTGGATGGCTTCTCTCAGC -3'
(R):5'- GGGTGATCCTAACACTGAAATTTAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation