Incidental Mutation 'R5664:Pcdhb14'
ID |
444301 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb14
|
Ensembl Gene |
ENSMUSG00000044043 |
Gene Name |
protocadherin beta 14 |
Synonyms |
Pcdhb17, 2210006M07Rik, PcdhbN |
MMRRC Submission |
043307-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R5664 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37580710-37584147 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37582049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 385
(V385D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052387]
[ENSMUST00000056915]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
Q6PB90 |
PDB Structure |
Solution structure of mouse protocadherin beta 14 (26-137) [SOLUTION NMR]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052387
AA Change: V385D
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000054111 Gene: ENSMUSG00000044043 AA Change: V385D
Domain | Start | End | E-Value | Type |
Pfam:Cadherin_2
|
30 |
112 |
1.4e-35 |
PFAM |
CA
|
155 |
240 |
1.53e-20 |
SMART |
CA
|
264 |
345 |
3.52e-29 |
SMART |
CA
|
368 |
449 |
2.24e-22 |
SMART |
CA
|
473 |
559 |
2.38e-26 |
SMART |
CA
|
589 |
670 |
4.12e-12 |
SMART |
Pfam:Cadherin_C_2
|
685 |
768 |
4.9e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000056915
|
SMART Domains |
Protein: ENSMUSP00000061087 Gene: ENSMUSG00000047307
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
CA
|
58 |
130 |
5.5e-1 |
SMART |
CA
|
154 |
239 |
8.55e-19 |
SMART |
CA
|
263 |
343 |
3.36e-26 |
SMART |
CA
|
366 |
447 |
2.24e-22 |
SMART |
CA
|
471 |
557 |
1.08e-24 |
SMART |
CA
|
587 |
668 |
1.25e-11 |
SMART |
Pfam:Cadherin_C_2
|
685 |
768 |
2.4e-23 |
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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610030E20Rik |
T |
A |
6: 72,325,977 (GRCm39) |
|
probably null |
Het |
9430015G10Rik |
T |
A |
4: 156,208,016 (GRCm39) |
L112H |
probably damaging |
Het |
Acaca |
T |
C |
11: 84,134,210 (GRCm39) |
L441P |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Arsj |
A |
T |
3: 126,232,306 (GRCm39) |
I351F |
probably damaging |
Het |
Atp6v1b2 |
A |
G |
8: 69,560,272 (GRCm39) |
T373A |
probably damaging |
Het |
Atr |
C |
A |
9: 95,787,866 (GRCm39) |
N1486K |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,730,824 (GRCm39) |
S583P |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,964,525 (GRCm39) |
D1493E |
probably benign |
Het |
Brme1 |
A |
T |
8: 84,893,288 (GRCm39) |
I152F |
probably benign |
Het |
C2cd2l |
T |
C |
9: 44,225,069 (GRCm39) |
E548G |
probably damaging |
Het |
Capn3 |
G |
A |
2: 120,307,506 (GRCm39) |
R15Q |
probably benign |
Het |
Ccl3 |
A |
G |
11: 83,540,039 (GRCm39) |
F22S |
probably benign |
Het |
Clcf1 |
T |
C |
19: 4,272,150 (GRCm39) |
F69S |
probably damaging |
Het |
Col13a1 |
T |
C |
10: 61,686,895 (GRCm39) |
E170G |
probably damaging |
Het |
Dhx29 |
T |
A |
13: 113,083,413 (GRCm39) |
F489L |
probably damaging |
Het |
Dhx8 |
A |
T |
11: 101,631,577 (GRCm39) |
N390I |
probably damaging |
Het |
Dkk1 |
T |
A |
19: 30,526,189 (GRCm39) |
Y135F |
probably benign |
Het |
Edil3 |
G |
T |
13: 89,467,832 (GRCm39) |
V446F |
probably damaging |
Het |
Epha5 |
T |
A |
5: 84,479,725 (GRCm39) |
E93V |
probably damaging |
Het |
Epsti1 |
C |
T |
14: 78,201,104 (GRCm39) |
T196I |
possibly damaging |
Het |
Fras1 |
T |
C |
5: 96,876,394 (GRCm39) |
S2376P |
possibly damaging |
Het |
Frem2 |
A |
G |
3: 53,559,911 (GRCm39) |
V1532A |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,818,439 (GRCm39) |
M4724K |
probably benign |
Het |
Gcat |
T |
A |
15: 78,927,273 (GRCm39) |
L238Q |
probably damaging |
Het |
Gimap6 |
T |
C |
6: 48,679,209 (GRCm39) |
K276E |
probably benign |
Het |
Gjb5 |
T |
A |
4: 127,249,722 (GRCm39) |
I141F |
probably benign |
Het |
Glt6d1 |
T |
C |
2: 25,704,192 (GRCm39) |
I7V |
probably benign |
Het |
Gtf2h5 |
G |
A |
17: 6,134,799 (GRCm39) |
G30R |
probably damaging |
Het |
Herc6 |
C |
A |
6: 57,595,669 (GRCm39) |
T449K |
probably benign |
Het |
Hpn |
A |
T |
7: 30,798,687 (GRCm39) |
Y132N |
probably damaging |
Het |
Hpx |
A |
T |
7: 105,244,355 (GRCm39) |
M190K |
probably benign |
Het |
Inf2 |
A |
G |
12: 112,578,162 (GRCm39) |
H1151R |
unknown |
Het |
Krt74 |
A |
G |
15: 101,669,014 (GRCm39) |
|
noncoding transcript |
Het |
Loxl3 |
G |
A |
6: 83,026,863 (GRCm39) |
S564N |
probably benign |
Het |
Map7 |
T |
A |
10: 20,143,105 (GRCm39) |
V418E |
unknown |
Het |
Mrpl37 |
T |
C |
4: 106,921,588 (GRCm39) |
N214D |
probably benign |
Het |
Mthfr |
T |
C |
4: 148,139,923 (GRCm39) |
Y656H |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,812,526 (GRCm39) |
D2099G |
probably benign |
Het |
Nktr |
T |
A |
9: 121,578,483 (GRCm39) |
C825* |
probably null |
Het |
Nomo1 |
A |
G |
7: 45,725,581 (GRCm39) |
E1029G |
probably benign |
Het |
Nup133 |
T |
C |
8: 124,633,020 (GRCm39) |
D1037G |
probably benign |
Het |
Or4b12 |
A |
G |
2: 90,095,959 (GRCm39) |
F272L |
probably damaging |
Het |
Or5w22 |
T |
C |
2: 87,363,178 (GRCm39) |
L267P |
probably benign |
Het |
Pik3c2g |
T |
C |
6: 139,682,733 (GRCm39) |
L38P |
probably damaging |
Het |
Pkd1 |
A |
T |
17: 24,788,345 (GRCm39) |
D701V |
probably damaging |
Het |
Pnpla6 |
A |
G |
8: 3,587,478 (GRCm39) |
T1070A |
probably damaging |
Het |
Ppl |
T |
C |
16: 4,923,919 (GRCm39) |
D185G |
probably benign |
Het |
Prp2rt |
C |
A |
13: 97,235,629 (GRCm39) |
L39F |
probably damaging |
Het |
Prss1l |
C |
T |
6: 41,371,605 (GRCm39) |
P17L |
probably benign |
Het |
Prune1 |
A |
T |
3: 95,165,489 (GRCm39) |
L261Q |
probably damaging |
Het |
Qser1 |
A |
T |
2: 104,608,541 (GRCm39) |
L1444I |
probably damaging |
Het |
Serpina6 |
A |
C |
12: 103,620,726 (GRCm39) |
C8G |
probably damaging |
Het |
Sla2 |
A |
T |
2: 156,716,919 (GRCm39) |
D180E |
probably benign |
Het |
Slc4a4 |
C |
T |
5: 89,176,103 (GRCm39) |
L25F |
probably damaging |
Het |
Snhg16 |
A |
T |
11: 116,563,490 (GRCm39) |
T27S |
possibly damaging |
Het |
Tbx3 |
A |
G |
5: 119,816,796 (GRCm39) |
K311R |
possibly damaging |
Het |
Tdpoz6 |
A |
G |
3: 93,599,994 (GRCm39) |
F125S |
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,910,099 (GRCm39) |
C167S |
probably damaging |
Het |
Trak1 |
T |
A |
9: 121,301,373 (GRCm39) |
C710S |
possibly damaging |
Het |
Tsks |
G |
A |
7: 44,603,208 (GRCm39) |
E337K |
probably damaging |
Het |
Vcpip1 |
A |
G |
1: 9,816,604 (GRCm39) |
I593T |
probably damaging |
Het |
Vmn2r118 |
A |
G |
17: 55,899,765 (GRCm39) |
I713T |
possibly damaging |
Het |
Vmn2r23 |
C |
T |
6: 123,690,033 (GRCm39) |
T303M |
probably damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,882,978 (GRCm39) |
M258K |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,895,202 (GRCm39) |
|
probably null |
Het |
Wap |
A |
G |
11: 6,588,609 (GRCm39) |
I5T |
possibly damaging |
Het |
Zfp235 |
A |
C |
7: 23,841,576 (GRCm39) |
H665P |
probably damaging |
Het |
|
Other mutations in Pcdhb14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02260:Pcdhb14
|
APN |
18 |
37,583,086 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02314:Pcdhb14
|
APN |
18 |
37,583,248 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02411:Pcdhb14
|
APN |
18 |
37,582,823 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02553:Pcdhb14
|
APN |
18 |
37,581,071 (GRCm39) |
nonsense |
probably null |
|
IGL02797:Pcdhb14
|
APN |
18 |
37,582,904 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03184:Pcdhb14
|
APN |
18 |
37,582,085 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03352:Pcdhb14
|
APN |
18 |
37,582,057 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0166:Pcdhb14
|
UTSW |
18 |
37,581,542 (GRCm39) |
splice site |
probably null |
|
R0467:Pcdhb14
|
UTSW |
18 |
37,582,277 (GRCm39) |
missense |
probably damaging |
0.98 |
R0675:Pcdhb14
|
UTSW |
18 |
37,581,392 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0730:Pcdhb14
|
UTSW |
18 |
37,581,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R1119:Pcdhb14
|
UTSW |
18 |
37,581,640 (GRCm39) |
missense |
probably damaging |
0.99 |
R1121:Pcdhb14
|
UTSW |
18 |
37,582,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R1338:Pcdhb14
|
UTSW |
18 |
37,582,943 (GRCm39) |
missense |
probably benign |
0.00 |
R1726:Pcdhb14
|
UTSW |
18 |
37,582,647 (GRCm39) |
nonsense |
probably null |
|
R1743:Pcdhb14
|
UTSW |
18 |
37,581,231 (GRCm39) |
missense |
probably benign |
0.01 |
R1779:Pcdhb14
|
UTSW |
18 |
37,582,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Pcdhb14
|
UTSW |
18 |
37,582,588 (GRCm39) |
missense |
probably benign |
|
R2131:Pcdhb14
|
UTSW |
18 |
37,580,923 (GRCm39) |
missense |
probably benign |
0.00 |
R2133:Pcdhb14
|
UTSW |
18 |
37,580,923 (GRCm39) |
missense |
probably benign |
0.00 |
R3792:Pcdhb14
|
UTSW |
18 |
37,582,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R3916:Pcdhb14
|
UTSW |
18 |
37,581,598 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4197:Pcdhb14
|
UTSW |
18 |
37,581,358 (GRCm39) |
missense |
probably benign |
0.01 |
R4282:Pcdhb14
|
UTSW |
18 |
37,583,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R4657:Pcdhb14
|
UTSW |
18 |
37,581,900 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4801:Pcdhb14
|
UTSW |
18 |
37,581,331 (GRCm39) |
missense |
probably benign |
0.28 |
R4802:Pcdhb14
|
UTSW |
18 |
37,581,331 (GRCm39) |
missense |
probably benign |
0.28 |
R5022:Pcdhb14
|
UTSW |
18 |
37,583,223 (GRCm39) |
missense |
probably benign |
0.03 |
R5034:Pcdhb14
|
UTSW |
18 |
37,581,859 (GRCm39) |
missense |
probably damaging |
0.98 |
R5840:Pcdhb14
|
UTSW |
18 |
37,581,803 (GRCm39) |
missense |
probably benign |
0.23 |
R5966:Pcdhb14
|
UTSW |
18 |
37,581,295 (GRCm39) |
missense |
probably benign |
|
R6090:Pcdhb14
|
UTSW |
18 |
37,581,659 (GRCm39) |
missense |
probably benign |
0.45 |
R6148:Pcdhb14
|
UTSW |
18 |
37,582,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R6187:Pcdhb14
|
UTSW |
18 |
37,581,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R6972:Pcdhb14
|
UTSW |
18 |
37,582,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R7394:Pcdhb14
|
UTSW |
18 |
37,581,961 (GRCm39) |
missense |
probably benign |
0.29 |
R7510:Pcdhb14
|
UTSW |
18 |
37,582,645 (GRCm39) |
missense |
probably damaging |
0.97 |
R7724:Pcdhb14
|
UTSW |
18 |
37,581,937 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7757:Pcdhb14
|
UTSW |
18 |
37,582,887 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8305:Pcdhb14
|
UTSW |
18 |
37,583,075 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8338:Pcdhb14
|
UTSW |
18 |
37,582,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R8497:Pcdhb14
|
UTSW |
18 |
37,582,349 (GRCm39) |
missense |
probably benign |
0.02 |
R8700:Pcdhb14
|
UTSW |
18 |
37,582,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R8792:Pcdhb14
|
UTSW |
18 |
37,582,541 (GRCm39) |
missense |
probably damaging |
0.99 |
R8891:Pcdhb14
|
UTSW |
18 |
37,582,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R8992:Pcdhb14
|
UTSW |
18 |
37,582,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R9043:Pcdhb14
|
UTSW |
18 |
37,581,851 (GRCm39) |
missense |
probably damaging |
0.98 |
R9069:Pcdhb14
|
UTSW |
18 |
37,583,157 (GRCm39) |
nonsense |
probably null |
|
R9127:Pcdhb14
|
UTSW |
18 |
37,582,091 (GRCm39) |
missense |
probably damaging |
0.99 |
R9345:Pcdhb14
|
UTSW |
18 |
37,581,281 (GRCm39) |
missense |
probably damaging |
0.98 |
R9470:Pcdhb14
|
UTSW |
18 |
37,581,076 (GRCm39) |
missense |
probably benign |
|
R9626:Pcdhb14
|
UTSW |
18 |
37,581,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R9758:Pcdhb14
|
UTSW |
18 |
37,582,040 (GRCm39) |
missense |
probably benign |
0.08 |
X0065:Pcdhb14
|
UTSW |
18 |
37,583,037 (GRCm39) |
nonsense |
probably null |
|
X0065:Pcdhb14
|
UTSW |
18 |
37,582,474 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1177:Pcdhb14
|
UTSW |
18 |
37,582,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TACCGCATGGAAATCGAGGC -3'
(R):5'- CGTTGTCATTGATGTCAGACAC -3'
Sequencing Primer
(F):5'- CATGGAAATCGAGGCCTCTG -3'
(R):5'- AGACACCTGCACTGTTATGG -3'
|
Posted On |
2016-11-09 |