Incidental Mutation 'R5218:Pcdhb6'
ID |
403629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb6
|
Ensembl Gene |
ENSMUSG00000051678 |
Gene Name |
protocadherin beta 6 |
Synonyms |
Pcdhb5B, PcdhbF |
MMRRC Submission |
042791-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R5218 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37466913-37470491 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37467388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 103
(V103E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061717]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000194655]
|
AlphaFold |
Q91XZ4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061717
AA Change: V103E
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000058592 Gene: ENSMUSG00000051678 AA Change: V103E
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,629,628 (GRCm39) |
N230K |
possibly damaging |
Het |
4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
Albfm1 |
A |
G |
5: 90,729,777 (GRCm39) |
K400R |
probably benign |
Het |
Amigo1 |
A |
G |
3: 108,095,086 (GRCm39) |
|
probably null |
Het |
Arhgap30 |
A |
T |
1: 171,236,328 (GRCm39) |
T901S |
probably benign |
Het |
Arpp21 |
T |
C |
9: 111,972,499 (GRCm39) |
D264G |
probably damaging |
Het |
Ccbe1 |
C |
T |
18: 66,216,229 (GRCm39) |
G165S |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,816,585 (GRCm39) |
D1786G |
probably damaging |
Het |
Cntn1 |
T |
C |
15: 92,237,430 (GRCm39) |
L1008P |
unknown |
Het |
Dclk2 |
T |
A |
3: 86,712,985 (GRCm39) |
D489V |
probably damaging |
Het |
Dip2b |
T |
A |
15: 100,052,177 (GRCm39) |
D259E |
probably benign |
Het |
Disp3 |
T |
C |
4: 148,327,333 (GRCm39) |
S1184G |
possibly damaging |
Het |
Dync1li2 |
C |
T |
8: 105,169,179 (GRCm39) |
W36* |
probably null |
Het |
Ece2 |
A |
T |
16: 20,437,290 (GRCm39) |
M211L |
probably benign |
Het |
Edn3 |
C |
T |
2: 174,603,345 (GRCm39) |
A31V |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,750,982 (GRCm39) |
Q266R |
possibly damaging |
Het |
Fabp1 |
C |
A |
6: 71,176,944 (GRCm39) |
Q12K |
probably damaging |
Het |
Flt1 |
G |
A |
5: 147,618,738 (GRCm39) |
T199M |
probably damaging |
Het |
Galns |
T |
A |
8: 123,325,328 (GRCm39) |
I275F |
probably damaging |
Het |
Gapvd1 |
T |
C |
2: 34,618,488 (GRCm39) |
D295G |
probably benign |
Het |
Gatb |
A |
G |
3: 85,511,751 (GRCm39) |
I169V |
probably benign |
Het |
Gpd1 |
T |
A |
15: 99,618,011 (GRCm39) |
I109N |
probably damaging |
Het |
Gps2 |
T |
C |
11: 69,807,121 (GRCm39) |
|
probably null |
Het |
Hsd17b12 |
T |
C |
2: 93,913,608 (GRCm39) |
N99D |
probably benign |
Het |
Itga3 |
A |
T |
11: 94,953,574 (GRCm39) |
V256E |
probably benign |
Het |
Kcnma1 |
T |
A |
14: 23,513,253 (GRCm39) |
Y527F |
probably damaging |
Het |
Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
Lrp1 |
C |
A |
10: 127,384,488 (GRCm39) |
E3580D |
probably damaging |
Het |
Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
Medag |
A |
T |
5: 149,345,719 (GRCm39) |
|
probably benign |
Het |
Ncdn |
C |
A |
4: 126,644,603 (GRCm39) |
R73L |
probably benign |
Het |
Nr4a1 |
T |
C |
15: 101,170,034 (GRCm39) |
V339A |
probably benign |
Het |
Ocln |
G |
T |
13: 100,642,822 (GRCm39) |
P420Q |
probably damaging |
Het |
Or5ac24 |
A |
T |
16: 59,165,270 (GRCm39) |
S265T |
probably benign |
Het |
Pank4 |
C |
T |
4: 155,064,185 (GRCm39) |
T681I |
probably benign |
Het |
Pcsk6 |
T |
C |
7: 65,675,036 (GRCm39) |
F469S |
probably benign |
Het |
Phrf1 |
A |
G |
7: 140,841,214 (GRCm39) |
N1353S |
possibly damaging |
Het |
Pou6f2 |
A |
G |
13: 18,326,586 (GRCm39) |
I72T |
probably damaging |
Het |
Ppig |
T |
C |
2: 69,563,127 (GRCm39) |
|
probably benign |
Het |
Ptprh |
T |
C |
7: 4,600,919 (GRCm39) |
S153G |
probably benign |
Het |
Rab11b |
T |
C |
17: 33,967,924 (GRCm39) |
N91S |
probably benign |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Slc2a9 |
A |
G |
5: 38,610,524 (GRCm39) |
S92P |
probably damaging |
Het |
Slit3 |
G |
A |
11: 35,575,002 (GRCm39) |
|
probably null |
Het |
Sox5 |
T |
C |
6: 143,906,616 (GRCm39) |
I280V |
possibly damaging |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Tdrd9 |
C |
T |
12: 112,029,909 (GRCm39) |
|
probably benign |
Het |
Tmem273 |
T |
A |
14: 32,538,793 (GRCm39) |
|
probably null |
Het |
Tmem74 |
A |
T |
15: 43,730,640 (GRCm39) |
N134K |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Txnl1 |
T |
G |
18: 63,812,538 (GRCm39) |
K85N |
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,451,341 (GRCm39) |
M409K |
probably damaging |
Het |
Wipf1 |
T |
C |
2: 73,274,812 (GRCm39) |
D53G |
probably damaging |
Het |
Wnt10a |
G |
A |
1: 74,832,754 (GRCm39) |
V116I |
probably benign |
Het |
Xpot |
T |
A |
10: 121,455,043 (GRCm39) |
D33V |
probably damaging |
Het |
Znrf3 |
C |
T |
11: 5,231,519 (GRCm39) |
V665M |
possibly 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 |
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 |
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'- TACTTGGTGGCTCACTTGGC -3'
(R):5'- CGACTGAGAGTAACCACATGG -3'
Sequencing Primer
(F):5'- TGGCTCACTTGGCAAAAGATCTG -3'
(R):5'- GAACAGCGTTGCTTCCAATG -3'
|
Posted On |
2016-07-22 |