Incidental Mutation 'R7394:Pcdhb14'
| ID |
573695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb14
|
| Ensembl Gene |
ENSMUSG00000044043 |
| Gene Name |
protocadherin beta 14 |
| Synonyms |
Pcdhb17, 2210006M07Rik, PcdhbN |
| MMRRC Submission |
045476-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R7394 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37580710-37584147 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37581961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 356
(I356V)
|
| 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: I356V
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: I356V
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,445,038 (GRCm39) |
I208V |
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
| Aldh1l2 |
T |
A |
10: 83,338,321 (GRCm39) |
I646F |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,599,205 (GRCm39) |
P1344S |
possibly damaging |
Het |
| Ank2 |
T |
A |
3: 126,730,302 (GRCm39) |
I711L |
possibly damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,821,298 (GRCm39) |
N251D |
probably damaging |
Het |
| Ap3m1 |
T |
C |
14: 21,088,147 (GRCm39) |
T304A |
probably benign |
Het |
| Arhgef39 |
T |
C |
4: 43,499,532 (GRCm39) |
T26A |
possibly damaging |
Het |
| Carnmt1 |
G |
T |
19: 18,648,201 (GRCm39) |
|
probably benign |
Het |
| Ccr4 |
C |
T |
9: 114,320,994 (GRCm39) |
R357H |
probably benign |
Het |
| Cd4 |
T |
A |
6: 124,850,004 (GRCm39) |
M104L |
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,936,965 (GRCm39) |
|
probably benign |
Het |
| Cdcp1 |
T |
C |
9: 123,002,878 (GRCm39) |
Y731C |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,350,790 (GRCm39) |
S114P |
not run |
Het |
| Cenpv |
T |
C |
11: 62,427,114 (GRCm39) |
D148G |
probably damaging |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,450,334 (GRCm39) |
Y596F |
probably benign |
Het |
| Clec4a2 |
C |
A |
6: 123,116,079 (GRCm39) |
A122E |
unknown |
Het |
| Col4a2 |
A |
G |
8: 11,496,184 (GRCm39) |
T1602A |
probably benign |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Cyp2j11 |
A |
T |
4: 96,204,677 (GRCm39) |
Y290N |
probably benign |
Het |
| Dhx38 |
A |
T |
8: 110,283,155 (GRCm39) |
V554E |
probably damaging |
Het |
| Ebf2 |
T |
C |
14: 67,474,975 (GRCm39) |
V70A |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fam217a |
A |
T |
13: 35,094,262 (GRCm39) |
I499K |
possibly damaging |
Het |
| Fras1 |
C |
A |
5: 96,860,309 (GRCm39) |
Y2118* |
probably null |
Het |
| Gm3248 |
A |
T |
14: 5,945,781 (GRCm38) |
|
probably null |
Het |
| Gm5460 |
T |
G |
14: 33,765,879 (GRCm39) |
D165E |
possibly damaging |
Het |
| Grk4 |
A |
T |
5: 34,908,962 (GRCm39) |
N490Y |
probably benign |
Het |
| Iglc2 |
T |
A |
16: 19,013,886 (GRCm39) |
K59* |
probably null |
Het |
| Iqsec3 |
T |
A |
6: 121,363,569 (GRCm39) |
H895L |
possibly damaging |
Het |
| Itgb7 |
A |
G |
15: 102,127,689 (GRCm39) |
S410P |
probably damaging |
Het |
| Kmt2d |
C |
A |
15: 98,754,265 (GRCm39) |
V1613F |
unknown |
Het |
| Lama1 |
T |
C |
17: 68,024,256 (GRCm39) |
L118P |
|
Het |
| Lrrc25 |
A |
T |
8: 71,070,830 (GRCm39) |
S204C |
possibly damaging |
Het |
| Malrd1 |
A |
G |
2: 15,700,010 (GRCm39) |
D619G |
unknown |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Mup17 |
G |
A |
4: 61,512,635 (GRCm39) |
S86F |
probably benign |
Het |
| Nbeal2 |
C |
T |
9: 110,459,257 (GRCm39) |
|
probably null |
Het |
| Nfkb1 |
A |
C |
3: 135,319,458 (GRCm39) |
V291G |
possibly damaging |
Het |
| Nomo1 |
G |
T |
7: 45,715,903 (GRCm39) |
V757F |
probably benign |
Het |
| Nutm2 |
T |
A |
13: 50,624,043 (GRCm39) |
S247T |
probably damaging |
Het |
| Or2at1 |
C |
A |
7: 99,416,553 (GRCm39) |
H61Q |
probably damaging |
Het |
| Or4c120 |
C |
T |
2: 89,000,705 (GRCm39) |
V284I |
probably benign |
Het |
| Or4f4-ps1 |
G |
T |
2: 111,330,241 (GRCm39) |
A215S |
probably damaging |
Het |
| Or7g12 |
T |
A |
9: 18,900,006 (GRCm39) |
C241S |
probably damaging |
Het |
| Or9k2b |
T |
A |
10: 130,016,123 (GRCm39) |
I209F |
probably damaging |
Het |
| Pnkp |
T |
A |
7: 44,508,102 (GRCm39) |
S142T |
probably damaging |
Het |
| Ppia |
T |
C |
11: 6,369,218 (GRCm39) |
S99P |
possibly damaging |
Het |
| Prss47 |
C |
T |
13: 65,192,807 (GRCm39) |
V325I |
probably benign |
Het |
| Ptgr3 |
C |
T |
18: 84,106,315 (GRCm39) |
A9V |
probably benign |
Het |
| Ptk7 |
T |
C |
17: 46,902,683 (GRCm39) |
D34G |
probably damaging |
Het |
| Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
| Rasa3 |
G |
T |
8: 13,645,353 (GRCm39) |
D195E |
probably benign |
Het |
| Rnf150 |
T |
A |
8: 83,717,100 (GRCm39) |
Y202* |
probably null |
Het |
| Sh2d1b2 |
T |
C |
1: 170,075,716 (GRCm39) |
V50A |
probably damaging |
Het |
| Slc30a4 |
C |
T |
2: 122,527,224 (GRCm39) |
V390I |
possibly damaging |
Het |
| Slc30a9 |
G |
T |
5: 67,510,109 (GRCm39) |
|
probably null |
Het |
| Slc8a3 |
T |
A |
12: 81,260,832 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
G |
A |
8: 106,991,642 (GRCm39) |
R304W |
probably damaging |
Het |
| Snta1 |
A |
G |
2: 154,218,780 (GRCm39) |
S490P |
probably damaging |
Het |
| Srcap |
T |
G |
7: 127,134,000 (GRCm39) |
M887R |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Sult2a3 |
T |
C |
7: 13,845,449 (GRCm39) |
T137A |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,656,945 (GRCm39) |
Q367* |
probably null |
Het |
| Uroc1 |
C |
T |
6: 90,322,315 (GRCm39) |
R280C |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,643,613 (GRCm39) |
I4325T |
possibly damaging |
Het |
| Vmn1r32 |
A |
G |
6: 66,530,173 (GRCm39) |
I201T |
probably benign |
Het |
| Zbtb47 |
T |
A |
9: 121,596,411 (GRCm39) |
M626K |
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 |
|
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 |
|
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'- TTTAGATGCTGGGACACACGG -3'
(R):5'- GATGTTGTACTCAGCTCTGCTC -3'
Sequencing Primer
(F):5'- GCTTTTGAAGTAAATACAGACACCGG -3'
(R):5'- AGCTCTGCTCTCTCTGTCCAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation