Incidental Mutation 'R1743:Pcdhb14'
| ID |
200552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb14
|
| Ensembl Gene |
ENSMUSG00000044043 |
| Gene Name |
protocadherin beta 14 |
| Synonyms |
Pcdhb17, 2210006M07Rik, PcdhbN |
| MMRRC Submission |
039775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R1743 (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 G
at 37581231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 112
(S112R)
|
| 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: S112R
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: S112R
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
T |
A |
11: 53,259,522 (GRCm39) |
M11K |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,722,324 (GRCm39) |
D88G |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,170,727 (GRCm39) |
E1169G |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,496,403 (GRCm39) |
V865E |
probably damaging |
Het |
| Bcl2l13 |
T |
A |
6: 120,825,504 (GRCm39) |
Y13* |
probably null |
Het |
| Birc6 |
A |
G |
17: 74,886,751 (GRCm39) |
Q693R |
possibly damaging |
Het |
| Bub1 |
T |
C |
2: 127,655,770 (GRCm39) |
D520G |
probably damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,188,773 (GRCm39) |
Y770* |
probably null |
Het |
| Cenpf |
T |
C |
1: 189,386,460 (GRCm39) |
E1940G |
probably benign |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,825 (GRCm39) |
V421A |
probably benign |
Het |
| Cnnm1 |
A |
T |
19: 43,460,352 (GRCm39) |
Y698F |
possibly damaging |
Het |
| Cnst |
C |
T |
1: 179,437,957 (GRCm39) |
T507I |
probably benign |
Het |
| Coq8a |
T |
C |
1: 180,009,794 (GRCm39) |
M4V |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 48,485,485 (GRCm39) |
L140P |
probably damaging |
Het |
| Cul2 |
A |
T |
18: 3,426,851 (GRCm39) |
I431F |
probably damaging |
Het |
| Dnah8 |
G |
T |
17: 30,988,625 (GRCm39) |
E3198D |
probably benign |
Het |
| Dnai3 |
C |
A |
3: 145,803,017 (GRCm39) |
R58L |
possibly damaging |
Het |
| Epn2 |
T |
A |
11: 61,437,237 (GRCm39) |
I112F |
possibly damaging |
Het |
| Ext2 |
T |
C |
2: 93,560,570 (GRCm39) |
E532G |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,889,521 (GRCm39) |
V37E |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,677,603 (GRCm39) |
F759S |
possibly damaging |
Het |
| Ghr |
G |
A |
15: 3,349,723 (GRCm39) |
P485L |
probably benign |
Het |
| Glipr1l2 |
G |
T |
10: 111,928,470 (GRCm39) |
V122L |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,876 (GRCm39) |
T287K |
probably damaging |
Het |
| Gm7275 |
A |
G |
16: 47,894,120 (GRCm39) |
|
noncoding transcript |
Het |
| Hephl1 |
C |
T |
9: 15,001,364 (GRCm39) |
V254I |
probably damaging |
Het |
| Hnf4a |
C |
A |
2: 163,408,259 (GRCm39) |
Q362K |
possibly damaging |
Het |
| Kcne3 |
C |
T |
7: 99,833,631 (GRCm39) |
R83C |
probably damaging |
Het |
| Klb |
C |
A |
5: 65,533,204 (GRCm39) |
N504K |
probably damaging |
Het |
| Loxl2 |
T |
A |
14: 69,929,851 (GRCm39) |
I743N |
possibly damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,502,891 (GRCm39) |
L287F |
probably damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,320,508 (GRCm39) |
P822L |
possibly damaging |
Het |
| Nacc2 |
T |
C |
2: 25,950,155 (GRCm39) |
N527S |
probably benign |
Het |
| Ncam1 |
G |
T |
9: 49,468,445 (GRCm39) |
P338H |
probably damaging |
Het |
| Nfkbiz |
G |
T |
16: 55,636,757 (GRCm39) |
Q515K |
possibly damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,834,149 (GRCm39) |
L263P |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,015,032 (GRCm39) |
S73T |
probably benign |
Het |
| Nomo1 |
G |
A |
7: 45,719,461 (GRCm39) |
|
probably null |
Het |
| Nos3 |
G |
A |
5: 24,582,310 (GRCm39) |
G594D |
probably benign |
Het |
| Oprm1 |
A |
G |
10: 6,780,105 (GRCm39) |
I256V |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,723 (GRCm39) |
T148A |
probably benign |
Het |
| Or10n1 |
A |
T |
9: 39,524,916 (GRCm39) |
T18S |
possibly damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,620 (GRCm39) |
I150V |
probably benign |
Het |
| Oxct2a |
A |
T |
4: 123,217,309 (GRCm39) |
L24Q |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,630,329 (GRCm39) |
I1246T |
probably damaging |
Het |
| Ppil4 |
A |
T |
10: 7,683,145 (GRCm39) |
K327N |
probably damaging |
Het |
| Pramel30 |
T |
C |
4: 144,059,575 (GRCm39) |
S429P |
probably benign |
Het |
| Pstpip1 |
T |
C |
9: 56,033,214 (GRCm39) |
Y249H |
probably damaging |
Het |
| Qrsl1 |
A |
T |
10: 43,757,511 (GRCm39) |
V369E |
probably damaging |
Het |
| Ranbp10 |
G |
T |
8: 106,506,610 (GRCm39) |
P237T |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,567,110 (GRCm39) |
N1097S |
probably damaging |
Het |
| Repin1 |
T |
A |
6: 48,574,684 (GRCm39) |
S538T |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,543,046 (GRCm39) |
M1151L |
probably benign |
Het |
| Rin3 |
T |
A |
12: 102,356,355 (GRCm39) |
D965E |
possibly damaging |
Het |
| Sdc2 |
A |
G |
15: 33,028,224 (GRCm39) |
D114G |
probably benign |
Het |
| Slc25a30 |
C |
A |
14: 76,012,523 (GRCm39) |
A42S |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Ssh2 |
T |
A |
11: 77,328,582 (GRCm39) |
F383I |
probably damaging |
Het |
| St8sia1 |
A |
T |
6: 142,774,742 (GRCm39) |
V279E |
probably damaging |
Het |
| Tacc2 |
C |
A |
7: 130,228,328 (GRCm39) |
S1690* |
probably null |
Het |
| Taf1b |
A |
G |
12: 24,597,177 (GRCm39) |
D372G |
possibly damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tmem165 |
G |
T |
5: 76,355,673 (GRCm39) |
G272C |
probably damaging |
Het |
| Tsc22d2 |
TCAGTTAACACCTATGAACAGT |
TCAGT |
3: 58,324,960 (GRCm39) |
|
probably null |
Het |
| Tssk4 |
C |
A |
14: 55,888,488 (GRCm39) |
A119D |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,316,727 (GRCm39) |
Y1941H |
probably damaging |
Het |
| Vmn2r42 |
A |
T |
7: 8,187,264 (GRCm39) |
M786K |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 101,991,931 (GRCm39) |
T3470K |
probably benign |
Het |
| Zc3h14 |
T |
C |
12: 98,745,448 (GRCm39) |
V479A |
probably benign |
Het |
| Zfp821 |
G |
A |
8: 110,450,796 (GRCm39) |
R263Q |
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 |
|
|
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 |
|
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'- AGTGCAACCATCACGTATTCCGTTC -3'
(R):5'- TGGATATTTCCTGCCGTCGCTG -3'
Sequencing Primer
(F):5'- CCTAGCAAAAGATTTGGGGTTG -3'
(R):5'- CTGCCGTCGCTGTGATTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation