Incidental Mutation 'R6373:Pcdhb7'
| ID |
513646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb7
|
| Ensembl Gene |
ENSMUSG00000045062 |
| Gene Name |
protocadherin beta 7 |
| Synonyms |
PcdhbG, Pcdhb4B |
| MMRRC Submission |
044523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37474755-37478255 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 37475264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 133
(C133*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053037]
[ENSMUST00000061717]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q8CDY9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053037
AA Change: C133*
|
| SMART Domains |
Protein: ENSMUSP00000051041
Gene: ENSMUSG00000045062
AA Change: C133*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
61 |
143 |
1.4e-32 |
PFAM |
|
CA
|
186 |
271 |
5.47e-17 |
SMART |
|
CA
|
295 |
376 |
4.43e-26 |
SMART |
|
CA
|
399 |
480 |
1.04e-22 |
SMART |
|
CA
|
504 |
590 |
2.12e-23 |
SMART |
|
CA
|
620 |
701 |
5.73e-11 |
SMART |
|
Pfam:Cadherin_C_2
|
718 |
801 |
5.5e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061717
|
| SMART Domains |
Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
95% (37/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
C |
8: 10,038,240 (GRCm39) |
L279P |
probably damaging |
Het |
| Aldh16a1 |
C |
G |
7: 44,795,695 (GRCm39) |
V373L |
probably benign |
Het |
| Btn2a2 |
T |
C |
13: 23,665,999 (GRCm39) |
K278E |
probably benign |
Het |
| Carns1 |
G |
T |
19: 4,216,515 (GRCm39) |
Q556K |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,958,898 (GRCm39) |
E650V |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,118 (GRCm39) |
S1195P |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,472,638 (GRCm39) |
H464R |
probably damaging |
Het |
| Eva1a |
T |
C |
6: 82,068,847 (GRCm39) |
L58S |
probably damaging |
Het |
| Fign |
A |
C |
2: 63,809,989 (GRCm39) |
M427R |
probably benign |
Het |
| Gm6309 |
A |
T |
5: 146,107,085 (GRCm39) |
I87N |
probably damaging |
Het |
| H2ac7 |
A |
G |
13: 23,759,027 (GRCm39) |
K128R |
probably benign |
Het |
| Helz |
A |
G |
11: 107,486,010 (GRCm39) |
T140A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,541,618 (GRCm39) |
H1227Q |
possibly damaging |
Het |
| Mab21l1 |
A |
T |
3: 55,690,505 (GRCm39) |
I31F |
possibly damaging |
Het |
| Mex3c |
T |
C |
18: 73,723,065 (GRCm39) |
M386T |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,022,994 (GRCm39) |
I1644F |
possibly damaging |
Het |
| Nav2 |
C |
T |
7: 49,102,923 (GRCm39) |
P513S |
probably damaging |
Het |
| Ncoa3 |
C |
T |
2: 165,901,267 (GRCm39) |
S953F |
possibly damaging |
Het |
| Nmt2 |
A |
G |
2: 3,325,988 (GRCm39) |
T462A |
probably benign |
Het |
| Nrxn2 |
T |
C |
19: 6,559,860 (GRCm39) |
I163T |
probably damaging |
Het |
| Nrxn3 |
G |
C |
12: 89,943,237 (GRCm39) |
G122R |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,479,724 (GRCm39) |
V280A |
probably benign |
Het |
| Or5d20-ps1 |
T |
C |
2: 87,932,189 (GRCm39) |
I47M |
possibly damaging |
Het |
| Parg |
T |
G |
14: 31,931,454 (GRCm39) |
|
probably null |
Het |
| Ppihl |
A |
G |
5: 44,070,893 (GRCm39) |
T127A |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,216,487 (GRCm39) |
Y504H |
possibly damaging |
Het |
| Rpe |
T |
C |
1: 66,755,139 (GRCm39) |
F174L |
probably benign |
Het |
| Rxrb |
A |
G |
17: 34,252,533 (GRCm39) |
N40S |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,486,889 (GRCm39) |
G3840W |
probably damaging |
Het |
| Smurf2 |
A |
G |
11: 106,724,595 (GRCm39) |
L529P |
probably damaging |
Het |
| Sntg2 |
C |
T |
12: 30,308,040 (GRCm39) |
R215H |
probably benign |
Het |
| Spata20 |
A |
G |
11: 94,374,226 (GRCm39) |
V348A |
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,123,739 (GRCm39) |
E342G |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syce1l |
T |
A |
8: 114,376,143 (GRCm39) |
M31K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,618,960 (GRCm39) |
V14394I |
probably damaging |
Het |
| Twnk |
G |
A |
19: 44,997,820 (GRCm39) |
V450M |
probably damaging |
Het |
| Vangl1 |
T |
C |
3: 102,065,764 (GRCm39) |
K407R |
probably benign |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,317 (GRCm39) |
I290T |
unknown |
Het |
|
| Other mutations in Pcdhb7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01668:Pcdhb7
|
APN |
18 |
37,476,205 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01806:Pcdhb7
|
APN |
18 |
37,475,548 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01862:Pcdhb7
|
APN |
18 |
37,476,915 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01961:Pcdhb7
|
APN |
18 |
37,475,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Pcdhb7
|
UTSW |
18 |
37,476,443 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0426:Pcdhb7
|
UTSW |
18 |
37,475,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0576:Pcdhb7
|
UTSW |
18 |
37,475,410 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0646:Pcdhb7
|
UTSW |
18 |
37,476,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0656:Pcdhb7
|
UTSW |
18 |
37,474,954 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1216:Pcdhb7
|
UTSW |
18 |
37,476,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1851:Pcdhb7
|
UTSW |
18 |
37,475,631 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2168:Pcdhb7
|
UTSW |
18 |
37,476,335 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2312:Pcdhb7
|
UTSW |
18 |
37,475,250 (GRCm39) |
missense |
probably benign |
|
|
R3153:Pcdhb7
|
UTSW |
18 |
37,476,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3758:Pcdhb7
|
UTSW |
18 |
37,476,079 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3763:Pcdhb7
|
UTSW |
18 |
37,474,936 (GRCm39) |
missense |
probably benign |
|
|
R3940:Pcdhb7
|
UTSW |
18 |
37,477,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3949:Pcdhb7
|
UTSW |
18 |
37,476,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4418:Pcdhb7
|
UTSW |
18 |
37,476,535 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4580:Pcdhb7
|
UTSW |
18 |
37,475,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4880:Pcdhb7
|
UTSW |
18 |
37,475,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4936:Pcdhb7
|
UTSW |
18 |
37,475,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Pcdhb7
|
UTSW |
18 |
37,475,202 (GRCm39) |
nonsense |
probably null |
|
|
R5086:Pcdhb7
|
UTSW |
18 |
37,476,162 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5517:Pcdhb7
|
UTSW |
18 |
37,474,846 (GRCm39) |
intron |
probably benign |
|
|
R5570:Pcdhb7
|
UTSW |
18 |
37,477,224 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5827:Pcdhb7
|
UTSW |
18 |
37,475,077 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6187:Pcdhb7
|
UTSW |
18 |
37,475,622 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6194:Pcdhb7
|
UTSW |
18 |
37,475,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6195:Pcdhb7
|
UTSW |
18 |
37,475,709 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6398:Pcdhb7
|
UTSW |
18 |
37,476,487 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6437:Pcdhb7
|
UTSW |
18 |
37,475,743 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6587:Pcdhb7
|
UTSW |
18 |
37,477,156 (GRCm39) |
missense |
probably benign |
|
|
R6596:Pcdhb7
|
UTSW |
18 |
37,476,414 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6646:Pcdhb7
|
UTSW |
18 |
37,477,027 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6702:Pcdhb7
|
UTSW |
18 |
37,474,959 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6923:Pcdhb7
|
UTSW |
18 |
37,475,522 (GRCm39) |
splice site |
probably null |
|
|
R6976:Pcdhb7
|
UTSW |
18 |
37,476,631 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7038:Pcdhb7
|
UTSW |
18 |
37,475,257 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7325:Pcdhb7
|
UTSW |
18 |
37,476,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7509:Pcdhb7
|
UTSW |
18 |
37,475,074 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7598:Pcdhb7
|
UTSW |
18 |
37,475,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7622:Pcdhb7
|
UTSW |
18 |
37,475,514 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7828:Pcdhb7
|
UTSW |
18 |
37,476,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Pcdhb7
|
UTSW |
18 |
37,475,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pcdhb7
|
UTSW |
18 |
37,476,261 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTGGCTCCTTTGTAGCCC -3'
(R):5'- CTGACTGTGTATTGTTGAAGCCC -3'
Sequencing Primer
(F):5'- CCTTTGTAGCCCACCTGG -3'
(R):5'- ACTGTGTATTGTTGAAGCCCATTGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation