Incidental Mutation 'R8818:Pcdhb6'
| ID |
672898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb6
|
| Ensembl Gene |
ENSMUSG00000051678 |
| Gene Name |
protocadherin beta 6 |
| Synonyms |
Pcdhb5B, PcdhbF |
| MMRRC Submission |
068651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R8818 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37466913-37470491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37468837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 586
(T586I)
|
| 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: T586I
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: T586I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
T |
7: 119,815,524 (GRCm39) |
M257I |
probably benign |
Het |
| Adam23 |
T |
C |
1: 63,584,627 (GRCm39) |
V345A |
probably damaging |
Het |
| Anxa6 |
T |
G |
11: 54,902,578 (GRCm39) |
N52T |
possibly damaging |
Het |
| Arhgef15 |
G |
A |
11: 68,841,938 (GRCm39) |
H496Y |
probably damaging |
Het |
| Atp2a3 |
A |
G |
11: 72,872,765 (GRCm39) |
E771G |
probably damaging |
Het |
| B3gnt5 |
A |
G |
16: 19,588,347 (GRCm39) |
T189A |
possibly damaging |
Het |
| Becn1 |
A |
T |
11: 101,186,230 (GRCm39) |
S125T |
probably damaging |
Het |
| Bltp1 |
T |
G |
3: 37,050,697 (GRCm39) |
M3011R |
possibly damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,900,484 (GRCm39) |
M283V |
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,771,323 (GRCm39) |
F35S |
probably damaging |
Het |
| Clcn1 |
T |
A |
6: 42,282,477 (GRCm39) |
I515N |
probably damaging |
Het |
| Cyp4f17 |
A |
G |
17: 32,743,068 (GRCm39) |
Y247C |
probably damaging |
Het |
| Dcp1a |
T |
A |
14: 30,240,899 (GRCm39) |
H236Q |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,874,764 (GRCm39) |
N4034Y |
probably damaging |
Het |
| Dsg1a |
A |
G |
18: 20,473,599 (GRCm39) |
I891V |
possibly damaging |
Het |
| Eid3 |
A |
G |
10: 82,703,441 (GRCm39) |
N301D |
probably damaging |
Het |
| Fbrs |
C |
A |
7: 127,078,694 (GRCm39) |
D108E |
unknown |
Het |
| Fbxw14 |
A |
C |
9: 109,116,071 (GRCm39) |
|
probably benign |
Het |
| Fzd8 |
A |
G |
18: 9,214,474 (GRCm39) |
T519A |
probably benign |
Het |
| Gldc |
C |
G |
19: 30,078,212 (GRCm39) |
M928I |
probably benign |
Het |
| Gpr3 |
C |
A |
4: 132,938,538 (GRCm39) |
V45L |
possibly damaging |
Het |
| Gramd1b |
A |
T |
9: 40,215,780 (GRCm39) |
I690K |
probably benign |
Het |
| Grhl2 |
T |
A |
15: 37,270,912 (GRCm39) |
D33E |
probably damaging |
Het |
| Kcnj4 |
C |
A |
15: 79,369,920 (GRCm39) |
R20L |
probably damaging |
Het |
| Klhl5 |
A |
G |
5: 65,305,989 (GRCm39) |
I319V |
probably benign |
Het |
| Lars2 |
A |
T |
9: 123,221,892 (GRCm39) |
E135D |
possibly damaging |
Het |
| Map9 |
T |
A |
3: 82,291,270 (GRCm39) |
Y602N |
possibly damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,463,027 (GRCm39) |
L6* |
probably null |
Het |
| Naa35 |
C |
T |
13: 59,748,761 (GRCm39) |
T131M |
probably damaging |
Het |
| Nucb2 |
T |
A |
7: 116,121,136 (GRCm39) |
L22Q |
possibly damaging |
Het |
| Or8g26 |
A |
G |
9: 39,096,062 (GRCm39) |
Y193C |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,286,078 (GRCm39) |
C179F |
probably damaging |
Het |
| Ppcs |
A |
T |
4: 119,279,330 (GRCm39) |
L74Q |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,517,216 (GRCm39) |
V677D |
probably benign |
Het |
| Psg27 |
C |
T |
7: 18,294,337 (GRCm39) |
G357S |
probably damaging |
Het |
| Ptgdr2 |
A |
G |
19: 10,918,380 (GRCm39) |
N299S |
probably damaging |
Het |
| Relb |
T |
A |
7: 19,353,762 (GRCm39) |
I39F |
probably damaging |
Het |
| Ripor2 |
T |
A |
13: 24,901,651 (GRCm39) |
S907R |
possibly damaging |
Het |
| Rnf170 |
T |
G |
8: 26,629,043 (GRCm39) |
D172E |
probably benign |
Het |
| Rnf31 |
C |
A |
14: 55,832,396 (GRCm39) |
Q273K |
probably benign |
Het |
| Rrp36 |
A |
T |
17: 46,983,336 (GRCm39) |
S93T |
probably damaging |
Het |
| Rsad1 |
A |
T |
11: 94,439,100 (GRCm39) |
V120D |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,661,441 (GRCm39) |
A1870T |
probably damaging |
Het |
| Serpina10 |
T |
G |
12: 103,595,063 (GRCm39) |
D52A |
probably benign |
Het |
| Slc47a1 |
A |
G |
11: 61,261,055 (GRCm39) |
I115T |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,920,543 (GRCm39) |
M426K |
probably benign |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
G |
7: 27,063,592 (GRCm39) |
E2283A |
possibly damaging |
Het |
| Top3a |
A |
G |
11: 60,633,877 (GRCm39) |
C740R |
probably damaging |
Het |
| Tpgs2 |
A |
T |
18: 25,291,365 (GRCm39) |
V33E |
probably damaging |
Het |
| Treh |
T |
C |
9: 44,592,823 (GRCm39) |
I116T |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,955,952 (GRCm39) |
N1138I |
possibly damaging |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Vamp9 |
A |
T |
5: 100,089,094 (GRCm39) |
N120Y |
probably damaging |
Het |
| Zswim9 |
G |
T |
7: 12,994,456 (GRCm39) |
Q567K |
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 |
|
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 |
|
|
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'- ATTCCATGTGGTTGCCAGAG -3'
(R):5'- CAGCACATGAAGAGTGACGC -3'
Sequencing Primer
(F):5'- GCCAGAGATGGAGGCTCAC -3'
(R):5'- ATTGTCCTTGACCAGCAACAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation