Incidental Mutation 'R5840:Pcdhb14'
ID |
450403 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb14
|
Ensembl Gene |
ENSMUSG00000044043 |
Gene Name |
protocadherin beta 14 |
Synonyms |
Pcdhb17, 2210006M07Rik, PcdhbN |
MMRRC Submission |
044060-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R5840 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37580710-37584147 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37581803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 303
(V303A)
|
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 |
probably benign
Transcript: ENSMUST00000052387
AA Change: V303A
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000054111 Gene: ENSMUSG00000044043 AA Change: V303A
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 96.5%
- 20x: 88.1%
|
Validation Efficiency |
99% (75/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
G |
A |
2: 25,323,371 (GRCm39) |
R113Q |
probably benign |
Het |
Aip |
G |
A |
19: 4,166,010 (GRCm39) |
P147L |
possibly damaging |
Het |
Anapc1 |
A |
C |
2: 128,448,957 (GRCm39) |
|
probably benign |
Het |
Arhgap42 |
C |
T |
9: 9,046,518 (GRCm39) |
V240I |
possibly damaging |
Het |
Axdnd1 |
T |
C |
1: 156,176,528 (GRCm39) |
E684G |
probably damaging |
Het |
BC005624 |
G |
A |
2: 30,871,869 (GRCm39) |
R2W |
probably benign |
Het |
Cd177 |
T |
G |
7: 24,457,495 (GRCm39) |
Q182P |
probably damaging |
Het |
Cdca5 |
G |
A |
19: 6,140,399 (GRCm39) |
E187K |
possibly damaging |
Het |
Chmp1a |
T |
C |
8: 123,934,839 (GRCm39) |
Q39R |
probably benign |
Het |
Dab2ip |
A |
G |
2: 35,617,511 (GRCm39) |
I1079V |
probably damaging |
Het |
Dip2c |
A |
T |
13: 9,556,712 (GRCm39) |
E85D |
possibly damaging |
Het |
Elmo2 |
A |
T |
2: 165,137,472 (GRCm39) |
S497R |
possibly damaging |
Het |
Ephb6 |
C |
T |
6: 41,592,507 (GRCm39) |
A339V |
possibly damaging |
Het |
Foxred1 |
T |
C |
9: 35,121,435 (GRCm39) |
K38E |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,555,342 (GRCm39) |
T1732S |
probably damaging |
Het |
Fto |
A |
G |
8: 92,393,068 (GRCm39) |
|
probably benign |
Het |
Gm17430 |
T |
A |
18: 9,726,528 (GRCm39) |
Q48L |
probably damaging |
Het |
Gng2 |
A |
G |
14: 19,925,882 (GRCm39) |
I70T |
probably damaging |
Het |
Gtf2a2 |
A |
G |
9: 69,922,575 (GRCm39) |
|
probably benign |
Het |
Invs |
A |
G |
4: 48,396,284 (GRCm39) |
D263G |
probably damaging |
Het |
Itga2b |
C |
T |
11: 102,352,157 (GRCm39) |
V475M |
probably damaging |
Het |
Kansl1l |
A |
G |
1: 66,809,374 (GRCm39) |
|
probably benign |
Het |
Klhl25 |
T |
C |
7: 75,516,440 (GRCm39) |
F449L |
possibly damaging |
Het |
Lamb1 |
T |
A |
12: 31,316,755 (GRCm39) |
C83S |
probably damaging |
Het |
Loxl4 |
G |
T |
19: 42,587,154 (GRCm39) |
T648K |
probably damaging |
Het |
Lrit2 |
T |
C |
14: 36,790,962 (GRCm39) |
F214L |
possibly damaging |
Het |
N4bp2 |
T |
G |
5: 65,965,437 (GRCm39) |
L1162R |
probably damaging |
Het |
Naa40 |
A |
T |
19: 7,207,373 (GRCm39) |
I117N |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 27,006,054 (GRCm39) |
S1492P |
probably benign |
Het |
Nf2 |
T |
A |
11: 4,766,146 (GRCm39) |
D128V |
probably benign |
Het |
Nox4 |
T |
C |
7: 87,010,001 (GRCm39) |
S401P |
probably benign |
Het |
Nt5c1b |
T |
C |
12: 10,427,171 (GRCm39) |
V323A |
probably damaging |
Het |
Or52a33 |
C |
T |
7: 103,288,463 (GRCm39) |
V295I |
probably benign |
Het |
Or52s19 |
T |
A |
7: 103,007,576 (GRCm39) |
H275L |
probably damaging |
Het |
Or5b118 |
G |
A |
19: 13,449,242 (GRCm39) |
V303I |
probably benign |
Het |
Pde8a |
C |
A |
7: 80,863,713 (GRCm39) |
H17Q |
probably benign |
Het |
Pfkl |
C |
T |
10: 77,824,558 (GRCm39) |
V716I |
probably benign |
Het |
Phc3 |
G |
A |
3: 30,990,732 (GRCm39) |
S495L |
possibly damaging |
Het |
Psg18 |
A |
G |
7: 18,080,527 (GRCm39) |
|
probably benign |
Het |
Rcc2 |
T |
G |
4: 140,439,449 (GRCm39) |
N175K |
possibly damaging |
Het |
Rhot2 |
G |
A |
17: 26,059,032 (GRCm39) |
T276I |
probably benign |
Het |
Rnase9 |
A |
T |
14: 51,276,445 (GRCm39) |
Y178N |
probably benign |
Het |
Sema4b |
T |
C |
7: 79,868,697 (GRCm39) |
C297R |
probably damaging |
Het |
Slc35d2 |
T |
C |
13: 64,266,227 (GRCm39) |
|
probably null |
Het |
Sptlc3 |
A |
T |
2: 139,389,126 (GRCm39) |
N169Y |
probably damaging |
Het |
Srsf9 |
T |
G |
5: 115,469,524 (GRCm39) |
M29R |
probably benign |
Het |
Stip1 |
C |
A |
19: 6,999,436 (GRCm39) |
D449Y |
possibly damaging |
Het |
Syne2 |
T |
A |
12: 75,927,065 (GRCm39) |
|
probably null |
Het |
Tgm5 |
A |
G |
2: 120,916,141 (GRCm39) |
|
probably null |
Het |
Thbs2 |
A |
T |
17: 14,901,692 (GRCm39) |
|
probably null |
Het |
Trak2 |
T |
C |
1: 58,958,432 (GRCm39) |
E283G |
probably damaging |
Het |
Trbv21 |
A |
G |
6: 41,179,792 (GRCm39) |
Y36C |
probably damaging |
Het |
Trpm7 |
A |
T |
2: 126,664,531 (GRCm39) |
Y949* |
probably null |
Het |
Ubqln5 |
T |
C |
7: 103,778,161 (GRCm39) |
D221G |
possibly damaging |
Het |
Ubxn4 |
T |
A |
1: 128,187,262 (GRCm39) |
V85D |
possibly damaging |
Het |
Vmn1r172 |
T |
A |
7: 23,359,600 (GRCm39) |
W162R |
probably benign |
Het |
Vrk2 |
A |
G |
11: 26,484,314 (GRCm39) |
|
probably benign |
Het |
Zc3h8 |
A |
C |
2: 128,771,824 (GRCm39) |
D276E |
probably benign |
Het |
Zfp369 |
C |
T |
13: 65,445,092 (GRCm39) |
T745I |
possibly damaging |
Het |
Zfp608 |
T |
C |
18: 55,031,978 (GRCm39) |
K654R |
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 |
R5664:Pcdhb14
|
UTSW |
18 |
37,582,049 (GRCm39) |
missense |
possibly damaging |
0.54 |
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'- GGACATTAATGACAATGCCCCTG -3'
(R):5'- CGCGACTATAGTTTCAGGGGAG -3'
Sequencing Primer
(F):5'- ATGACAATGCCCCTGAATTTGC -3'
(R):5'- CGACTATAGTTTCAGGGGAGTTTTC -3'
|
Posted On |
2016-12-20 |