Incidental Mutation 'R6256:Pcdhb6'
| ID |
506149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb6
|
| Ensembl Gene |
ENSMUSG00000051678 |
| Gene Name |
protocadherin beta 6 |
| Synonyms |
Pcdhb5B, PcdhbF |
| MMRRC Submission |
044373-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R6256 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37333921-37337674 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37335925 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 633
(D633G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061717]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000194655]
|
| AlphaFold |
Q91XZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061717
AA Change: D633G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: D633G
| 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 |
|
| Meta Mutation Damage Score |
0.2913 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 72,451,428 (GRCm38) |
Q361L |
probably damaging |
Het |
| Abca7 |
A |
G |
10: 80,002,622 (GRCm38) |
T577A |
probably damaging |
Het |
| Acad12 |
A |
T |
5: 121,614,086 (GRCm38) |
V54E |
probably benign |
Het |
| Ago4 |
A |
G |
4: 126,520,226 (GRCm38) |
Y91H |
probably damaging |
Het |
| Akr1b10 |
T |
C |
6: 34,387,688 (GRCm38) |
V28A |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 58,101,918 (GRCm38) |
|
probably null |
Het |
| Ccdc7a |
T |
C |
8: 128,935,593 (GRCm38) |
|
probably null |
Het |
| Ces1f |
A |
T |
8: 93,265,794 (GRCm38) |
V343E |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,274,661 (GRCm38) |
L896P |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,669,729 (GRCm38) |
P2375S |
probably damaging |
Het |
| Dnajb14 |
G |
C |
3: 137,908,362 (GRCm38) |
A345P |
probably damaging |
Het |
| Dnajb14 |
C |
T |
3: 137,908,363 (GRCm38) |
A345V |
probably damaging |
Het |
| Dnase1 |
G |
A |
16: 4,037,621 (GRCm38) |
R24K |
probably benign |
Het |
| Dnmbp |
C |
T |
19: 43,852,281 (GRCm38) |
V560M |
probably damaging |
Het |
| Dopey2 |
T |
A |
16: 93,807,214 (GRCm38) |
I1981N |
possibly damaging |
Het |
| Eif3a |
A |
C |
19: 60,771,026 (GRCm38) |
S770A |
possibly damaging |
Het |
| Fbxl7 |
A |
T |
15: 26,553,002 (GRCm38) |
C60S |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,733,843 (GRCm38) |
D2478V |
possibly damaging |
Het |
| Hrnr |
A |
G |
3: 93,322,611 (GRCm38) |
D52G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,220,408 (GRCm38) |
L823M |
probably damaging |
Het |
| Kdm1a |
G |
T |
4: 136,568,600 (GRCm38) |
C172* |
probably null |
Het |
| Kdm6b |
C |
T |
11: 69,406,729 (GRCm38) |
E295K |
probably damaging |
Het |
| Mepe |
A |
T |
5: 104,337,074 (GRCm38) |
M27L |
probably benign |
Het |
| Mogat2 |
A |
T |
7: 99,219,895 (GRCm38) |
H305Q |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,917,266 (GRCm38) |
Y1215N |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,789,795 (GRCm38) |
H48L |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 31,983,695 (GRCm38) |
D953G |
probably damaging |
Het |
| Ocel1 |
T |
C |
8: 71,371,828 (GRCm38) |
|
probably benign |
Het |
| Ppm1l |
A |
G |
3: 69,497,897 (GRCm38) |
I176V |
probably benign |
Het |
| Sall3 |
C |
T |
18: 80,969,861 (GRCm38) |
R1120H |
possibly damaging |
Het |
| Sbf1 |
G |
A |
15: 89,300,867 (GRCm38) |
P1018S |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,857,257 (GRCm38) |
Y1065C |
probably damaging |
Het |
| Slc25a2 |
T |
C |
18: 37,637,723 (GRCm38) |
|
probably null |
Het |
| Slc4a2 |
C |
A |
5: 24,435,890 (GRCm38) |
T729K |
probably damaging |
Het |
| Sptlc2 |
T |
C |
12: 87,355,531 (GRCm38) |
E207G |
probably damaging |
Het |
| Sult6b1 |
A |
T |
17: 78,906,914 (GRCm38) |
F27I |
probably benign |
Het |
| Syf2 |
A |
T |
4: 134,934,578 (GRCm38) |
K84N |
probably damaging |
Het |
| Tmem209 |
A |
T |
6: 30,497,167 (GRCm38) |
N183K |
probably benign |
Het |
| Tmem232 |
G |
T |
17: 65,478,402 (GRCm38) |
Q188K |
possibly damaging |
Het |
| Tomm70a |
A |
T |
16: 57,152,692 (GRCm38) |
T598S |
probably benign |
Het |
| Ttll13 |
A |
G |
7: 80,258,304 (GRCm38) |
T556A |
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,524,700 (GRCm38) |
L363* |
probably null |
Het |
| Xpo6 |
G |
T |
7: 126,108,619 (GRCm38) |
Q872K |
probably damaging |
Het |
| Xrra1 |
A |
C |
7: 99,914,464 (GRCm38) |
S553R |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 738,765 (GRCm38) |
V147E |
unknown |
Homo |
| Zfy2 |
T |
C |
Y: 2,116,267 (GRCm38) |
I258V |
probably benign |
Homo |
|
| Other mutations in Pcdhb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Pcdhb6
|
APN |
18 |
37,334,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02123:Pcdhb6
|
APN |
18 |
37,335,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02491:Pcdhb6
|
APN |
18 |
37,335,682 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02496:Pcdhb6
|
APN |
18 |
37,335,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02608:Pcdhb6
|
APN |
18 |
37,334,694 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03130:Pcdhb6
|
APN |
18 |
37,335,587 (GRCm38) |
nonsense |
probably null |
|
|
IGL03144:Pcdhb6
|
APN |
18 |
37,334,406 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03189:Pcdhb6
|
APN |
18 |
37,336,152 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03203:Pcdhb6
|
APN |
18 |
37,334,532 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03388:Pcdhb6
|
APN |
18 |
37,336,137 (GRCm38) |
missense |
probably damaging |
0.99 |
|
PIT4445001:Pcdhb6
|
UTSW |
18 |
37,335,247 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R0571:Pcdhb6
|
UTSW |
18 |
37,335,114 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0734:Pcdhb6
|
UTSW |
18 |
37,335,334 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1727:Pcdhb6
|
UTSW |
18 |
37,334,587 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2206:Pcdhb6
|
UTSW |
18 |
37,335,580 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2207:Pcdhb6
|
UTSW |
18 |
37,335,580 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2303:Pcdhb6
|
UTSW |
18 |
37,336,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2401:Pcdhb6
|
UTSW |
18 |
37,335,169 (GRCm38) |
missense |
probably benign |
0.35 |
|
R3409:Pcdhb6
|
UTSW |
18 |
37,335,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3411:Pcdhb6
|
UTSW |
18 |
37,335,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3625:Pcdhb6
|
UTSW |
18 |
37,336,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3716:Pcdhb6
|
UTSW |
18 |
37,336,206 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4745:Pcdhb6
|
UTSW |
18 |
37,335,373 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4821:Pcdhb6
|
UTSW |
18 |
37,334,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5218:Pcdhb6
|
UTSW |
18 |
37,334,335 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5465:Pcdhb6
|
UTSW |
18 |
37,334,730 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5522:Pcdhb6
|
UTSW |
18 |
37,334,349 (GRCm38) |
missense |
probably benign |
|
|
R5556:Pcdhb6
|
UTSW |
18 |
37,334,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5703:Pcdhb6
|
UTSW |
18 |
37,334,700 (GRCm38) |
missense |
probably benign |
0.15 |
|
R6154:Pcdhb6
|
UTSW |
18 |
37,334,913 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6304:Pcdhb6
|
UTSW |
18 |
37,335,921 (GRCm38) |
nonsense |
probably null |
|
|
R6528:Pcdhb6
|
UTSW |
18 |
37,334,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6883:Pcdhb6
|
UTSW |
18 |
37,335,145 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7045:Pcdhb6
|
UTSW |
18 |
37,336,276 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7307:Pcdhb6
|
UTSW |
18 |
37,335,478 (GRCm38) |
missense |
probably benign |
|
|
R7313:Pcdhb6
|
UTSW |
18 |
37,335,208 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7378:Pcdhb6
|
UTSW |
18 |
37,335,172 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7555:Pcdhb6
|
UTSW |
18 |
37,335,279 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R7606:Pcdhb6
|
UTSW |
18 |
37,335,606 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7701:Pcdhb6
|
UTSW |
18 |
37,334,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7830:Pcdhb6
|
UTSW |
18 |
37,336,312 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7905:Pcdhb6
|
UTSW |
18 |
37,334,554 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7982:Pcdhb6
|
UTSW |
18 |
37,334,220 (GRCm38) |
nonsense |
probably null |
|
|
R8818:Pcdhb6
|
UTSW |
18 |
37,335,784 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8917:Pcdhb6
|
UTSW |
18 |
37,335,378 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9397:Pcdhb6
|
UTSW |
18 |
37,336,300 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1088:Pcdhb6
|
UTSW |
18 |
37,335,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTACCCGATGCAGAACG -3'
(R):5'- CCAAGGCAATGACCAGGTAG -3'
Sequencing Primer
(F):5'- TGCACTGAGCTGCTGCC -3'
(R):5'- AGAGTGTGAGCATGTCTTCATCC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation