Incidental Mutation 'R5465:Pcdhb6'
| ID |
433222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb6
|
| Ensembl Gene |
ENSMUSG00000051678 |
| Gene Name |
protocadherin beta 6 |
| Synonyms |
Pcdhb5B, PcdhbF |
| MMRRC Submission |
043026-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R5465 (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 37467783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 235
(I235F)
|
| 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: I235F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: I235F
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aplp1 |
T |
C |
7: 30,136,277 (GRCm39) |
D500G |
probably benign |
Het |
| Atg7 |
G |
A |
6: 114,629,493 (GRCm39) |
G4R |
probably benign |
Het |
| Atp11b |
G |
A |
3: 35,864,333 (GRCm39) |
V302I |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,540,438 (GRCm39) |
|
probably null |
Het |
| Ccna1 |
T |
C |
3: 54,953,065 (GRCm39) |
H234R |
probably benign |
Het |
| Cplx2 |
G |
A |
13: 54,527,352 (GRCm39) |
E79K |
possibly damaging |
Het |
| Dnai4 |
T |
A |
4: 102,906,758 (GRCm39) |
D685V |
probably damaging |
Het |
| Gnb2 |
A |
G |
5: 137,526,775 (GRCm39) |
I380T |
probably damaging |
Het |
| Gpr162 |
A |
T |
6: 124,838,134 (GRCm39) |
V172D |
probably damaging |
Het |
| Gtf2a1 |
A |
C |
12: 91,534,565 (GRCm39) |
F191V |
possibly damaging |
Het |
| Ift172 |
A |
T |
5: 31,418,862 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
C |
1: 32,658,255 (GRCm39) |
Y272H |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
C |
2: 121,136,506 (GRCm39) |
S2203P |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,654 (GRCm39) |
L867Q |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,153,746 (GRCm39) |
F656L |
probably damaging |
Het |
| Or51f5 |
A |
G |
7: 102,424,640 (GRCm39) |
K303R |
probably benign |
Het |
| Or5b109 |
T |
C |
19: 13,212,052 (GRCm39) |
I146T |
probably benign |
Het |
| Or7c70 |
T |
C |
10: 78,682,852 (GRCm39) |
K299R |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,463,924 (GRCm39) |
S1395P |
probably damaging |
Het |
| Ralgapb |
C |
A |
2: 158,290,325 (GRCm39) |
T412N |
possibly damaging |
Het |
| Rtn4r |
A |
T |
16: 17,969,291 (GRCm39) |
M240L |
probably benign |
Het |
| Slit2 |
C |
T |
5: 48,407,254 (GRCm39) |
T895I |
probably damaging |
Het |
| Slx4ip |
T |
G |
2: 136,846,867 (GRCm39) |
L44R |
probably damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,800,133 (GRCm39) |
Q2196K |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,046,885 (GRCm39) |
S454L |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,675,556 (GRCm39) |
H840R |
probably benign |
Het |
| Usp47 |
C |
T |
7: 111,658,209 (GRCm39) |
T176M |
probably damaging |
Het |
| Utp6 |
A |
T |
11: 79,839,836 (GRCm39) |
I284N |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,817,372 (GRCm39) |
H337R |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
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'- TCTGACATTGGAAGCAACGC -3'
(R):5'- TTACAAATGGCTGAGGACCTCC -3'
Sequencing Primer
(F):5'- CATTGGAAGCAACGCTGTTC -3'
(R):5'- CCCCACCTTGAAACAGAGAGTAGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation