Incidental Mutation 'R9598:Pcdhb7'
| ID |
723419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb7
|
| Ensembl Gene |
ENSMUSG00000045062 |
| Gene Name |
protocadherin beta 7 |
| Synonyms |
PcdhbG, Pcdhb4B |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R9598 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37474755-37478255 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37475434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 190
(D190G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053037]
[ENSMUST00000061717]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q8CDY9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053037
AA Change: D190G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051041
Gene: ENSMUSG00000045062
AA Change: D190G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,088,604 (GRCm39) |
I302V |
probably benign |
Het |
| Ackr2 |
A |
C |
9: 121,737,657 (GRCm39) |
T11P |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,981,149 (GRCm39) |
N811S |
probably benign |
Het |
| Atm |
T |
C |
9: 53,431,381 (GRCm39) |
I326V |
probably benign |
Het |
| Ccn4 |
T |
A |
15: 66,784,764 (GRCm39) |
C146S |
possibly damaging |
Het |
| Cdh23 |
A |
T |
10: 60,214,574 (GRCm39) |
F1480L |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,322,578 (GRCm39) |
E78G |
possibly damaging |
Het |
| Ces1f |
A |
T |
8: 93,983,494 (GRCm39) |
N504K |
probably benign |
Het |
| Chrna4 |
G |
A |
2: 180,679,264 (GRCm39) |
S61L |
probably damaging |
Het |
| Clcn3 |
G |
T |
8: 61,366,061 (GRCm39) |
T864K |
unknown |
Het |
| Cym |
A |
C |
3: 107,126,941 (GRCm39) |
D71E |
possibly damaging |
Het |
| Ddx19b |
T |
C |
8: 111,747,673 (GRCm39) |
D87G |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,292,621 (GRCm39) |
V3002A |
possibly damaging |
Het |
| Dnmt3a |
G |
A |
12: 3,946,997 (GRCm39) |
G408S |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,625,939 (GRCm39) |
D66E |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,672,789 (GRCm39) |
D820G |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,153,014 (GRCm39) |
V92I |
possibly damaging |
Het |
| Dusp16 |
T |
A |
6: 134,695,185 (GRCm39) |
T549S |
probably benign |
Het |
| Ephx1 |
T |
A |
1: 180,827,381 (GRCm39) |
K91* |
probably null |
Het |
| Flii |
A |
G |
11: 60,617,991 (GRCm39) |
F9L |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,436,308 (GRCm39) |
S760P |
unknown |
Het |
| Fmnl3 |
A |
T |
15: 99,223,210 (GRCm39) |
V378E |
probably damaging |
Het |
| Gbp4 |
A |
G |
5: 105,284,740 (GRCm39) |
S50P |
probably damaging |
Het |
| Glra3 |
G |
T |
8: 56,393,718 (GRCm39) |
|
probably benign |
Het |
| Gm10188 |
T |
C |
1: 132,157,033 (GRCm39) |
D111G |
unknown |
Het |
| Gnptab |
A |
T |
10: 88,247,876 (GRCm39) |
E101V |
probably damaging |
Het |
| Hacl1 |
C |
A |
14: 31,332,197 (GRCm39) |
M525I |
probably benign |
Het |
| Hid1 |
T |
A |
11: 115,239,738 (GRCm39) |
T731S |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,751,522 (GRCm39) |
Y847C |
probably damaging |
Het |
| Igfbpl1 |
C |
A |
4: 45,815,472 (GRCm39) |
L221F |
probably null |
Het |
| Ighv1-12 |
A |
G |
12: 114,579,757 (GRCm39) |
Y22H |
probably benign |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| L3mbtl4 |
T |
A |
17: 68,866,767 (GRCm39) |
H335Q |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 24,016,707 (GRCm39) |
D287G |
probably benign |
Het |
| Mfsd14b |
G |
A |
13: 65,214,522 (GRCm39) |
R477W |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Msh4 |
A |
T |
3: 153,607,148 (GRCm39) |
S131T |
possibly damaging |
Het |
| Nat8f2 |
A |
T |
6: 85,844,848 (GRCm39) |
D171E |
probably benign |
Het |
| Ndufb5 |
G |
T |
3: 32,795,881 (GRCm39) |
L24F |
probably benign |
Het |
| Nkain2 |
T |
C |
10: 32,278,291 (GRCm39) |
I45V |
probably damaging |
Het |
| Nlrp9b |
T |
G |
7: 19,753,302 (GRCm39) |
M69R |
probably benign |
Het |
| Or4k37 |
A |
T |
2: 111,159,633 (GRCm39) |
R290* |
probably null |
Het |
| Or5d39 |
A |
C |
2: 87,979,935 (GRCm39) |
C143G |
probably damaging |
Het |
| Or5d46 |
A |
T |
2: 88,170,821 (GRCm39) |
K304I |
possibly damaging |
Het |
| Oxct2b |
T |
A |
4: 123,010,413 (GRCm39) |
V111E |
possibly damaging |
Het |
| Parva |
T |
A |
7: 112,187,753 (GRCm39) |
V350D |
probably damaging |
Het |
| Pik3c2b |
T |
C |
1: 133,012,725 (GRCm39) |
|
probably null |
Het |
| Plcz1 |
T |
A |
6: 139,985,484 (GRCm39) |
Q19L |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,571,069 (GRCm39) |
N551D |
probably benign |
Het |
| Rb1cc1 |
G |
A |
1: 6,310,189 (GRCm39) |
V196I |
probably damaging |
Het |
| Rnf113a2 |
T |
C |
12: 84,464,270 (GRCm39) |
V54A |
probably benign |
Het |
| Sec14l1 |
G |
A |
11: 117,044,102 (GRCm39) |
E537K |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Shtn1 |
T |
A |
19: 59,026,735 (GRCm39) |
I119F |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,266,358 (GRCm39) |
|
probably null |
Het |
| Tasp1 |
T |
C |
2: 139,819,567 (GRCm39) |
D212G |
probably benign |
Het |
| Tmpo |
A |
G |
10: 90,994,608 (GRCm39) |
|
probably null |
Het |
| Usp17lb |
T |
C |
7: 104,489,718 (GRCm39) |
K403R |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,816,019 (GRCm39) |
V788A |
probably benign |
Het |
| Wdr25 |
C |
A |
12: 108,864,613 (GRCm39) |
H253N |
probably benign |
Het |
| Wwc2 |
G |
A |
8: 48,328,360 (GRCm39) |
S367L |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,162,292 (GRCm39) |
E814G |
probably damaging |
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 |
|
R6373:Pcdhb7
|
UTSW |
18 |
37,475,264 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
Z1177:Pcdhb7
|
UTSW |
18 |
37,476,261 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTAGCACTGTGGATCCCTG -3'
(R):5'- AACCAGAGCTGTTCCTGACC -3'
Sequencing Primer
(F):5'- CACTGTGGATCCCTGTGTGC -3'
(R):5'- TTCCTGACCTCGGTGGAGAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation