Incidental Mutation 'R5517:Pcdhb7'
| ID |
431375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb7
|
| Ensembl Gene |
ENSMUSG00000045062 |
| Gene Name |
protocadherin beta 7 |
| Synonyms |
PcdhbG, Pcdhb4B |
| MMRRC Submission |
043076-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R5517 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37474755-37478255 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 37474846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053037]
[ENSMUST00000061717]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q8CDY9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053037
|
| SMART Domains |
Protein: ENSMUSP00000051041
Gene: ENSMUSG00000045062
| 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: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.5%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
T |
17: 36,269,233 (GRCm39) |
R675K |
possibly damaging |
Het |
| Aire |
A |
T |
10: 77,875,525 (GRCm39) |
S282T |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,216,887 (GRCm39) |
E283G |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,051,665 (GRCm39) |
D1477E |
possibly damaging |
Het |
| Ap2a1 |
T |
C |
7: 44,556,405 (GRCm39) |
D273G |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,040,906 (GRCm39) |
L664P |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,414 (GRCm39) |
F550L |
probably damaging |
Het |
| Armc2 |
T |
C |
10: 41,839,846 (GRCm39) |
E373G |
probably benign |
Het |
| Atp8b2 |
C |
A |
3: 89,853,338 (GRCm39) |
A726S |
probably benign |
Het |
| C030048H21Rik |
T |
A |
2: 26,145,899 (GRCm39) |
Q87L |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,405,542 (GRCm39) |
|
probably benign |
Het |
| Cdk10 |
T |
A |
8: 123,957,326 (GRCm39) |
|
probably null |
Het |
| Cenpe |
C |
A |
3: 134,929,026 (GRCm39) |
P310Q |
probably damaging |
Het |
| Chuk |
T |
A |
19: 44,085,972 (GRCm39) |
|
probably null |
Het |
| Crebl2 |
T |
C |
6: 134,828,139 (GRCm39) |
S104P |
probably benign |
Het |
| Ddo |
A |
G |
10: 40,523,726 (GRCm39) |
K239E |
probably benign |
Het |
| Defb5 |
A |
G |
8: 19,300,868 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
T |
A |
2: 158,676,832 (GRCm39) |
M422K |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gatm |
G |
A |
2: 122,426,024 (GRCm39) |
T409I |
probably damaging |
Het |
| Gdpd1 |
A |
T |
11: 86,950,332 (GRCm39) |
D80E |
probably damaging |
Het |
| Gspt1 |
C |
A |
16: 11,071,843 (GRCm39) |
G7C |
unknown |
Het |
| Hells |
G |
A |
19: 38,943,244 (GRCm39) |
S516N |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,738,542 (GRCm39) |
S2069P |
possibly damaging |
Het |
| Kank4 |
G |
A |
4: 98,663,118 (GRCm39) |
T690M |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,573,006 (GRCm39) |
N265S |
possibly damaging |
Het |
| Kif5b |
C |
A |
18: 6,220,954 (GRCm39) |
A385S |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,415 (GRCm39) |
S1102P |
probably benign |
Het |
| Mcm7 |
A |
G |
5: 138,163,133 (GRCm39) |
S340P |
possibly damaging |
Het |
| Mcrs1 |
C |
T |
15: 99,144,876 (GRCm39) |
R246H |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,610,226 (GRCm39) |
M1189K |
probably benign |
Het |
| Or4d2 |
A |
T |
11: 87,783,892 (GRCm39) |
I286N |
probably damaging |
Het |
| Or4k52 |
G |
T |
2: 111,610,804 (GRCm39) |
M46I |
probably benign |
Het |
| Or7g29 |
G |
A |
9: 19,287,063 (GRCm39) |
T38I |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,923,995 (GRCm39) |
N1118S |
probably damaging |
Het |
| Pakap |
T |
C |
4: 57,855,987 (GRCm39) |
Y439H |
probably damaging |
Het |
| Picalm |
C |
T |
7: 89,819,806 (GRCm39) |
T189I |
possibly damaging |
Het |
| Ptx4 |
T |
A |
17: 25,343,760 (GRCm39) |
S337T |
possibly damaging |
Het |
| Rad51ap2 |
C |
T |
12: 11,508,313 (GRCm39) |
S745L |
probably benign |
Het |
| Rspry1 |
G |
A |
8: 95,363,388 (GRCm39) |
|
probably null |
Het |
| Scn5a |
T |
G |
9: 119,324,779 (GRCm39) |
I1350L |
probably damaging |
Het |
| Sgk2 |
T |
C |
2: 162,839,755 (GRCm39) |
L121P |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 24,056,575 (GRCm39) |
|
probably benign |
Het |
| Slc6a12 |
A |
G |
6: 121,331,298 (GRCm39) |
N183S |
probably benign |
Het |
| Smg9 |
C |
A |
7: 24,114,338 (GRCm39) |
|
probably benign |
Het |
| Spred1 |
G |
A |
2: 117,008,195 (GRCm39) |
S367N |
probably damaging |
Het |
| Srpra |
T |
C |
9: 35,122,646 (GRCm39) |
V21A |
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,816,627 (GRCm39) |
I56F |
possibly damaging |
Het |
| Taf1a |
T |
G |
1: 183,177,323 (GRCm39) |
L67R |
probably damaging |
Het |
| Tbc1d10b |
C |
A |
7: 126,797,779 (GRCm39) |
R787S |
possibly damaging |
Het |
| Topbp1 |
T |
A |
9: 103,213,313 (GRCm39) |
N1044K |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,232,871 (GRCm39) |
T886A |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,027,676 (GRCm39) |
D472G |
probably damaging |
Het |
| Zyg11a |
T |
C |
4: 108,061,943 (GRCm39) |
N286S |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2016-10-05 |
Incidental Mutation