Incidental Mutation 'R5703:Pcdhb6'
| ID |
451812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb6
|
| Ensembl Gene |
ENSMUSG00000051678 |
| Gene Name |
protocadherin beta 6 |
| Synonyms |
Pcdhb5B, PcdhbF |
| MMRRC Submission |
043183-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R5703 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37466913-37470491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37467753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 225
(T225S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061717]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000194655]
|
| AlphaFold |
Q91XZ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061717
AA Change: T225S
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: T225S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000141773
Gene: ENSMUSG00000051678
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
1 |
60 |
2e-11 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
A |
1: 25,459,640 (GRCm39) |
N605I |
probably damaging |
Het |
| Btd |
C |
T |
14: 31,389,004 (GRCm39) |
R242* |
probably null |
Het |
| Cdc42bpg |
A |
G |
19: 6,372,703 (GRCm39) |
D1502G |
possibly damaging |
Het |
| Chst2 |
A |
G |
9: 95,286,985 (GRCm39) |
F454L |
probably damaging |
Het |
| Col16a1 |
G |
A |
4: 129,947,092 (GRCm39) |
A146T |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,797,183 (GRCm39) |
S399T |
probably benign |
Het |
| Dspp |
C |
T |
5: 104,324,917 (GRCm39) |
H427Y |
possibly damaging |
Het |
| Dtx4 |
A |
T |
19: 12,459,574 (GRCm39) |
M410K |
possibly damaging |
Het |
| Ecpas |
A |
T |
4: 58,877,171 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
C |
T |
10: 25,317,665 (GRCm39) |
R61W |
probably damaging |
Het |
| Gbp6 |
T |
C |
5: 105,421,147 (GRCm39) |
K553E |
probably benign |
Het |
| Git1 |
CCG |
C |
11: 77,395,494 (GRCm39) |
|
probably null |
Het |
| Gm13199 |
C |
T |
2: 5,867,259 (GRCm39) |
|
probably benign |
Het |
| Gramd2a |
G |
A |
9: 59,615,299 (GRCm39) |
G13R |
probably benign |
Het |
| Hoxa2 |
G |
T |
6: 52,140,243 (GRCm39) |
Q248K |
probably damaging |
Het |
| Hycc1 |
A |
T |
5: 24,185,577 (GRCm39) |
|
probably null |
Het |
| Krt33b |
T |
C |
11: 99,916,374 (GRCm39) |
T228A |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,444,573 (GRCm39) |
E324G |
probably damaging |
Het |
| Map3k20 |
A |
G |
2: 72,232,514 (GRCm39) |
N390S |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,565,757 (GRCm39) |
Y126H |
possibly damaging |
Het |
| Muc4 |
G |
A |
16: 32,555,059 (GRCm39) |
W15* |
probably null |
Het |
| Ndrg2 |
T |
A |
14: 52,147,579 (GRCm39) |
|
probably null |
Het |
| Ntsr1 |
T |
C |
2: 180,142,226 (GRCm39) |
S6P |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,783 (GRCm39) |
I213T |
probably benign |
Het |
| Or5p70 |
G |
A |
7: 107,994,707 (GRCm39) |
V127I |
probably benign |
Het |
| Rfng |
C |
A |
11: 120,672,842 (GRCm39) |
V294L |
probably benign |
Het |
| Scml4 |
C |
T |
10: 42,741,566 (GRCm39) |
|
probably benign |
Het |
| Slc5a2 |
A |
G |
7: 127,869,787 (GRCm39) |
I407V |
possibly damaging |
Het |
| Strc |
T |
C |
2: 121,201,295 (GRCm39) |
T1267A |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,626,341 (GRCm39) |
V566A |
probably damaging |
Het |
| Tas1r2 |
T |
C |
4: 139,394,647 (GRCm39) |
S468P |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,914,626 (GRCm39) |
T2304S |
probably benign |
Het |
| Tirap |
A |
T |
9: 35,100,054 (GRCm39) |
L210Q |
probably damaging |
Het |
| Vav3 |
A |
T |
3: 109,248,557 (GRCm39) |
Q68L |
probably benign |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,594 (GRCm39) |
S433N |
probably benign |
Het |
| Wars1 |
A |
T |
12: 108,841,047 (GRCm39) |
Y244N |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,835,372 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
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'- TTTCTTCTGAAGGCAGCTCAGG -3'
(R):5'- CACCTTGAAACAGAGAGTAGGC -3'
Sequencing Primer
(F):5'- CATTGGAAGCAACGCTGTTC -3'
(R):5'- GCTACATTGCCATGTATCCCAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation