Incidental Mutation 'R7982:Pcdhb6'
ID |
651297 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb6
|
Ensembl Gene |
ENSMUSG00000051678 |
Gene Name |
protocadherin beta 6 |
Synonyms |
Pcdhb5B, PcdhbF |
MMRRC Submission |
046023-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R7982 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37466913-37470491 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 37467273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 65
(R65*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061717]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000194655]
|
AlphaFold |
Q91XZ4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000061717
AA Change: R65*
|
SMART Domains |
Protein: ENSMUSP00000058592 Gene: ENSMUSG00000051678 AA Change: R65*
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: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
A |
G |
1: 75,150,284 (GRCm39) |
S625P |
probably damaging |
Het |
Actl6b |
A |
G |
5: 137,561,424 (GRCm39) |
N142S |
probably benign |
Het |
Ank1 |
A |
T |
8: 23,609,397 (GRCm39) |
D1363V |
probably damaging |
Het |
Aox4 |
A |
C |
1: 58,296,400 (GRCm39) |
L1032F |
possibly damaging |
Het |
Atosb |
T |
C |
4: 43,034,483 (GRCm39) |
T371A |
probably damaging |
Het |
Bcl2l15 |
T |
C |
3: 103,740,158 (GRCm39) |
M4T |
probably damaging |
Het |
Cand1 |
A |
T |
10: 119,052,378 (GRCm39) |
S242R |
probably damaging |
Het |
Cant1 |
A |
T |
11: 118,300,968 (GRCm39) |
V229D |
probably benign |
Het |
Ccdc117 |
A |
G |
11: 5,481,460 (GRCm39) |
S224P |
possibly damaging |
Het |
Cdc42ep4 |
T |
C |
11: 113,619,402 (GRCm39) |
R330G |
possibly damaging |
Het |
Cep164 |
T |
C |
9: 45,690,162 (GRCm39) |
E527G |
probably benign |
Het |
Cfap58 |
A |
G |
19: 47,963,006 (GRCm39) |
D472G |
probably benign |
Het |
Cln6 |
A |
C |
9: 62,756,450 (GRCm39) |
K198T |
possibly damaging |
Het |
Col4a4 |
G |
A |
1: 82,549,162 (GRCm39) |
|
probably benign |
Het |
Cyp1b1 |
T |
C |
17: 80,017,919 (GRCm39) |
Y412C |
probably damaging |
Het |
Dhx30 |
A |
T |
9: 109,914,524 (GRCm39) |
L991Q |
probably damaging |
Het |
Dst |
C |
T |
1: 34,221,621 (GRCm39) |
T2475I |
possibly damaging |
Het |
Exoc8 |
A |
T |
8: 125,623,149 (GRCm39) |
V406E |
probably damaging |
Het |
Grk6 |
T |
A |
13: 55,599,519 (GRCm39) |
C201S |
probably damaging |
Het |
Helz |
T |
C |
11: 107,517,456 (GRCm39) |
V664A |
possibly damaging |
Het |
Hsd17b11 |
A |
G |
5: 104,151,090 (GRCm39) |
C215R |
possibly damaging |
Het |
Ift25 |
T |
C |
4: 107,132,480 (GRCm39) |
V89A |
probably benign |
Het |
Kbtbd12 |
T |
C |
6: 88,595,616 (GRCm39) |
I71M |
possibly damaging |
Het |
Khdc1a |
A |
T |
1: 21,421,130 (GRCm39) |
H105L |
probably benign |
Het |
Klf6 |
T |
A |
13: 5,911,822 (GRCm39) |
L62Q |
probably damaging |
Het |
Mc1r |
A |
G |
8: 124,134,879 (GRCm39) |
R211G |
probably damaging |
Het |
Nt5m |
T |
A |
11: 59,739,157 (GRCm39) |
W68R |
possibly damaging |
Het |
Nufip1 |
T |
C |
14: 76,363,679 (GRCm39) |
V301A |
probably benign |
Het |
Or10ac1 |
T |
A |
6: 42,515,225 (GRCm39) |
T244S |
probably damaging |
Het |
Or12d14-ps1 |
T |
G |
17: 37,673,502 (GRCm39) |
F165V |
probably damaging |
Het |
Or2b7 |
T |
C |
13: 21,740,136 (GRCm39) |
N19D |
probably benign |
Het |
Or51f5 |
A |
T |
7: 102,424,310 (GRCm39) |
D193V |
probably damaging |
Het |
Or5ac25 |
A |
G |
16: 59,181,927 (GRCm39) |
I218T |
probably benign |
Het |
Ostn |
T |
C |
16: 27,140,189 (GRCm39) |
|
probably null |
Het |
Pds5b |
T |
C |
5: 150,693,406 (GRCm39) |
I706T |
probably damaging |
Het |
Pgm2 |
T |
G |
5: 64,258,302 (GRCm39) |
Y96D |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,777,926 (GRCm39) |
T875I |
possibly damaging |
Het |
Poc1b |
A |
G |
10: 99,000,764 (GRCm39) |
S355G |
probably benign |
Het |
Ppp6r1 |
A |
C |
7: 4,646,157 (GRCm39) |
D181E |
probably benign |
Het |
Pstpip2 |
G |
A |
18: 77,967,073 (GRCm39) |
V325M |
probably benign |
Het |
Rras2 |
A |
T |
7: 113,658,186 (GRCm39) |
V92D |
probably damaging |
Het |
Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
GTCTTCTTCTTCTTCTTC |
GTCTTCTTCTTCTTC |
2: 112,499,594 (GRCm39) |
|
probably benign |
Het |
Stac2 |
T |
A |
11: 97,933,379 (GRCm39) |
M188L |
probably benign |
Het |
Synrg |
G |
A |
11: 83,910,644 (GRCm39) |
D859N |
probably damaging |
Het |
Tarbp1 |
A |
T |
8: 127,171,040 (GRCm39) |
S987T |
probably damaging |
Het |
Tbx20 |
C |
A |
9: 24,685,220 (GRCm39) |
|
probably benign |
Het |
Trim30d |
G |
T |
7: 104,121,817 (GRCm39) |
N309K |
possibly damaging |
Het |
Ttc16 |
C |
T |
2: 32,665,047 (GRCm39) |
|
probably benign |
Het |
Ttc34 |
T |
A |
4: 154,945,875 (GRCm39) |
I303N |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,155,519 (GRCm39) |
|
probably null |
Het |
Uros |
A |
T |
7: 133,294,278 (GRCm39) |
S168T |
unknown |
Het |
Vmn2r6 |
C |
T |
3: 64,467,241 (GRCm39) |
G86D |
probably damaging |
Het |
Ybx2 |
C |
T |
11: 69,831,448 (GRCm39) |
T295I |
possibly damaging |
Het |
Zbed5 |
T |
A |
5: 129,929,321 (GRCm39) |
C146S |
possibly damaging |
Het |
Zcchc2 |
G |
A |
1: 105,958,901 (GRCm39) |
C1124Y |
probably damaging |
Het |
Zfp626 |
G |
A |
7: 27,510,175 (GRCm39) |
|
probably null |
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 |
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'- AGAAGCACTGCTCTTTGGATC -3'
(R):5'- TGAGCTGCAGTTCAGTTTGAAAG -3'
Sequencing Primer
(F):5'- GAAGCACTGCTCTTTGGATCATAGC -3'
(R):5'- AGAACTGCACAGGGTTTTCTAG -3'
|
Posted On |
2020-09-15 |