Incidental Mutation 'R3916:Pcdhb14'
ID |
309782 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb14
|
Ensembl Gene |
ENSMUSG00000044043 |
Gene Name |
protocadherin beta 14 |
Synonyms |
Pcdhb17, 2210006M07Rik, PcdhbN |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R3916 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37580710-37584147 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37581598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 235
(I235F)
|
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: I235F
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000054111 Gene: ENSMUSG00000044043 AA Change: I235F
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
G |
2: 68,562,329 (GRCm39) |
F319V |
possibly damaging |
Het |
Acad12 |
A |
G |
5: 121,737,277 (GRCm39) |
V498A |
probably damaging |
Het |
Adam19 |
A |
G |
11: 45,951,762 (GRCm39) |
E37G |
probably benign |
Het |
Anks3 |
A |
G |
16: 4,765,143 (GRCm39) |
Y423H |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,259,668 (GRCm39) |
V600D |
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,504,197 (GRCm39) |
F939L |
probably benign |
Het |
Arhgef2 |
A |
G |
3: 88,540,340 (GRCm39) |
N127S |
probably damaging |
Het |
Arid1b |
A |
G |
17: 5,392,928 (GRCm39) |
S2100G |
probably benign |
Het |
Atp1b2 |
A |
G |
11: 69,493,901 (GRCm39) |
V93A |
probably damaging |
Het |
Atrnl1 |
T |
C |
19: 57,924,084 (GRCm39) |
V1283A |
possibly damaging |
Het |
Bpifb5 |
A |
C |
2: 154,070,101 (GRCm39) |
K184Q |
probably benign |
Het |
Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
Cant1 |
A |
G |
11: 118,299,572 (GRCm39) |
V259A |
probably damaging |
Het |
Ccdc89 |
A |
G |
7: 90,076,033 (GRCm39) |
D81G |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cntnap4 |
C |
G |
8: 113,602,165 (GRCm39) |
P1190A |
probably benign |
Het |
Colgalt2 |
T |
A |
1: 152,384,362 (GRCm39) |
Y567* |
probably null |
Het |
Cyp4f18 |
A |
T |
8: 72,749,881 (GRCm39) |
F256Y |
probably benign |
Het |
Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
Dop1a |
G |
A |
9: 86,403,186 (GRCm39) |
R1462H |
probably damaging |
Het |
Dync1i2 |
A |
G |
2: 71,079,716 (GRCm39) |
T377A |
probably damaging |
Het |
F2 |
G |
A |
2: 91,455,833 (GRCm39) |
T600M |
probably damaging |
Het |
Fam91a1 |
C |
T |
15: 58,302,583 (GRCm39) |
H308Y |
probably damaging |
Het |
Fkbp2 |
C |
A |
19: 6,955,925 (GRCm39) |
|
probably null |
Het |
Gabarapl2 |
T |
A |
8: 112,679,028 (GRCm39) |
F115L |
probably benign |
Het |
Heatr3 |
T |
G |
8: 88,876,999 (GRCm39) |
|
probably null |
Het |
Ifi204 |
T |
G |
1: 173,583,341 (GRCm39) |
K292N |
possibly damaging |
Het |
Itpkc |
A |
T |
7: 26,927,728 (GRCm39) |
I62N |
probably benign |
Het |
Kcnab1 |
G |
A |
3: 65,211,585 (GRCm39) |
|
probably null |
Het |
Krt88 |
G |
A |
15: 101,350,809 (GRCm39) |
|
probably null |
Het |
Larp4 |
C |
T |
15: 99,888,284 (GRCm39) |
T107I |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,166,778 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
T |
C |
11: 103,346,344 (GRCm39) |
Y3174C |
possibly damaging |
Het |
Lyzl4 |
T |
A |
9: 121,412,101 (GRCm39) |
D105V |
probably damaging |
Het |
Mst1 |
A |
G |
9: 107,961,494 (GRCm39) |
I575V |
probably benign |
Het |
Myh7 |
C |
A |
14: 55,211,503 (GRCm39) |
E1555D |
probably damaging |
Het |
Nwd1 |
T |
A |
8: 73,394,439 (GRCm39) |
C608* |
probably null |
Het |
Obox3 |
C |
A |
7: 15,361,151 (GRCm39) |
C38F |
probably benign |
Het |
P4ha2 |
A |
G |
11: 54,017,074 (GRCm39) |
D441G |
probably benign |
Het |
Rasgrf2 |
A |
G |
13: 92,167,296 (GRCm39) |
V259A |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,107,957 (GRCm39) |
T1590A |
probably damaging |
Het |
Sdk1 |
T |
A |
5: 142,036,999 (GRCm39) |
D817E |
probably damaging |
Het |
Sema3b |
A |
G |
9: 107,477,657 (GRCm39) |
F482S |
probably damaging |
Het |
Slc35a5 |
G |
C |
16: 44,978,521 (GRCm39) |
|
probably benign |
Het |
Slc6a3 |
A |
G |
13: 73,710,427 (GRCm39) |
I346V |
probably benign |
Het |
Slu7 |
G |
T |
11: 43,331,511 (GRCm39) |
|
probably null |
Het |
Spns1 |
A |
T |
7: 125,970,711 (GRCm39) |
|
probably null |
Het |
Supv3l1 |
T |
C |
10: 62,285,199 (GRCm39) |
D89G |
possibly damaging |
Het |
Taf1c |
G |
A |
8: 120,327,244 (GRCm39) |
R412W |
probably damaging |
Het |
Tctn3 |
T |
A |
19: 40,596,093 (GRCm39) |
T305S |
possibly damaging |
Het |
Tekt1 |
A |
G |
11: 72,236,574 (GRCm39) |
I296T |
possibly damaging |
Het |
Tet2 |
T |
C |
3: 133,191,816 (GRCm39) |
K873E |
possibly damaging |
Het |
Thada |
G |
A |
17: 84,749,210 (GRCm39) |
A587V |
possibly damaging |
Het |
Tmprss15 |
T |
A |
16: 78,782,884 (GRCm39) |
N712Y |
probably damaging |
Het |
Tnks |
A |
G |
8: 35,320,515 (GRCm39) |
S719P |
probably damaging |
Het |
Tnrc6a |
A |
C |
7: 122,780,607 (GRCm39) |
Q1332H |
probably damaging |
Het |
Trpv3 |
A |
G |
11: 73,174,560 (GRCm39) |
D309G |
possibly damaging |
Het |
Tti2 |
A |
G |
8: 31,643,547 (GRCm39) |
K221E |
possibly damaging |
Het |
Uba5 |
A |
T |
9: 103,931,389 (GRCm39) |
C227S |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,716,654 (GRCm39) |
C2925R |
probably benign |
Het |
Vmn2r83 |
G |
A |
10: 79,314,744 (GRCm39) |
G331R |
probably benign |
Het |
Xirp2 |
G |
T |
2: 67,341,766 (GRCm39) |
V1336F |
probably benign |
Het |
Zbed5 |
T |
C |
5: 129,931,118 (GRCm39) |
Y356H |
possibly 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 |
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 |
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'- TTGGATGTGGGGAGCAACAC -3'
(R):5'- CGGTGTCTGTATTTACTTCAAAAGC -3'
Sequencing Primer
(F):5'- TGTGGGGAGCAACACGGTTC -3'
(R):5'- ACTTCAAAAGCCTGTAGAACTTG -3'
|
Posted On |
2015-04-17 |