Incidental Mutation 'R8992:Pcdhb14'
ID |
684510 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb14
|
Ensembl Gene |
ENSMUSG00000044043 |
Gene Name |
protocadherin beta 14 |
Synonyms |
Pcdhb17, 2210006M07Rik, PcdhbN |
MMRRC Submission |
068823-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R8992 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37580710-37584147 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 37582231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 446
(D446Y)
|
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 damaging
Transcript: ENSMUST00000052387
AA Change: D446Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054111 Gene: ENSMUSG00000044043 AA Change: D446Y
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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd14b |
A |
G |
9: 106,328,817 (GRCm39) |
D146G |
probably benign |
Het |
Abhd6 |
T |
A |
14: 8,028,282 (GRCm38) |
D4E |
probably benign |
Het |
Atp5if1 |
T |
C |
4: 132,260,685 (GRCm39) |
D34G |
probably benign |
Het |
Bcr |
T |
C |
10: 74,967,404 (GRCm39) |
F546S |
probably damaging |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Ccdc141 |
A |
T |
2: 76,844,739 (GRCm39) |
W1443R |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,839,589 (GRCm39) |
D1375G |
probably damaging |
Het |
Chi3l1 |
A |
T |
1: 134,115,662 (GRCm39) |
Q223H |
probably benign |
Het |
Clcn2 |
A |
T |
16: 20,531,080 (GRCm39) |
F260I |
probably damaging |
Het |
Cpq |
A |
T |
15: 33,594,381 (GRCm39) |
D464V |
probably benign |
Het |
Crygb |
T |
C |
1: 65,121,300 (GRCm39) |
D9G |
probably damaging |
Het |
Cyp2b10 |
A |
G |
7: 25,624,815 (GRCm39) |
K438E |
unknown |
Het |
Cyp46a1 |
A |
T |
12: 108,324,366 (GRCm39) |
D381V |
possibly damaging |
Het |
Dhx40 |
A |
C |
11: 86,667,582 (GRCm39) |
|
probably benign |
Het |
Dnase2b |
G |
T |
3: 146,292,717 (GRCm39) |
P152Q |
probably damaging |
Het |
Duox1 |
A |
T |
2: 122,175,186 (GRCm39) |
H1328L |
probably damaging |
Het |
Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
Fam168b |
A |
G |
1: 34,858,862 (GRCm39) |
F102L |
probably benign |
Het |
Fam3b |
T |
A |
16: 97,277,594 (GRCm39) |
D128V |
probably damaging |
Het |
Galnt11 |
T |
G |
5: 25,469,983 (GRCm39) |
H527Q |
possibly damaging |
Het |
Gbp2b |
A |
T |
3: 142,316,730 (GRCm39) |
R460S |
probably benign |
Het |
Hdhd2 |
A |
C |
18: 77,058,366 (GRCm39) |
S246R |
possibly damaging |
Het |
Heatr1 |
T |
C |
13: 12,415,995 (GRCm39) |
M189T |
probably damaging |
Het |
Ift70a1 |
A |
T |
2: 75,810,251 (GRCm39) |
C611S |
probably benign |
Het |
Ino80 |
A |
G |
2: 119,210,059 (GRCm39) |
S1411P |
possibly damaging |
Het |
Jakmip1 |
A |
G |
5: 37,274,882 (GRCm39) |
T467A |
probably benign |
Het |
Kcnh2 |
A |
G |
5: 24,536,868 (GRCm39) |
S239P |
probably benign |
Het |
Lct |
T |
A |
1: 128,228,299 (GRCm39) |
T1065S |
probably damaging |
Het |
Lrrc66 |
T |
C |
5: 73,787,227 (GRCm39) |
D41G |
probably benign |
Het |
Mfsd2b |
A |
T |
12: 4,921,490 (GRCm39) |
D26E |
probably benign |
Het |
Myh1 |
A |
T |
11: 67,096,607 (GRCm39) |
M333L |
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,798,958 (GRCm39) |
V855A |
possibly damaging |
Het |
Nfkb2 |
T |
A |
19: 46,295,304 (GRCm39) |
V80D |
probably damaging |
Het |
Nop9 |
T |
C |
14: 55,983,438 (GRCm39) |
S70P |
possibly damaging |
Het |
Or2t46 |
A |
G |
11: 58,471,738 (GRCm39) |
S23G |
probably benign |
Het |
Pclo |
C |
T |
5: 14,719,325 (GRCm39) |
A1154V |
unknown |
Het |
Pdgfa |
G |
T |
5: 138,971,977 (GRCm39) |
Q141K |
probably damaging |
Het |
Plekhh1 |
G |
T |
12: 79,122,307 (GRCm39) |
L1133F |
probably damaging |
Het |
Pole |
A |
T |
5: 110,471,488 (GRCm39) |
N1411Y |
possibly damaging |
Het |
Primpol |
A |
G |
8: 47,034,597 (GRCm39) |
|
probably benign |
Het |
Psmc5 |
T |
G |
11: 106,152,787 (GRCm39) |
V203G |
probably damaging |
Het |
Ptgdr |
C |
T |
14: 45,096,181 (GRCm39) |
C177Y |
probably damaging |
Het |
Ptgir |
A |
T |
7: 16,641,220 (GRCm39) |
I171F |
probably damaging |
Het |
Ptprg |
T |
A |
14: 12,154,170 (GRCm38) |
H630Q |
probably benign |
Het |
Ptrh2 |
A |
G |
11: 86,580,907 (GRCm39) |
T175A |
possibly damaging |
Het |
Ralgapb |
A |
G |
2: 158,296,197 (GRCm39) |
T857A |
probably damaging |
Het |
Rnf24 |
A |
G |
2: 131,155,197 (GRCm39) |
F10S |
possibly damaging |
Het |
Rreb1 |
C |
A |
13: 38,114,352 (GRCm39) |
S570R |
probably benign |
Het |
Rttn |
A |
G |
18: 88,995,832 (GRCm39) |
N205S |
probably benign |
Het |
Rusc1 |
T |
C |
3: 88,999,365 (GRCm39) |
E139G |
probably benign |
Het |
Scn2a |
A |
G |
2: 65,594,242 (GRCm39) |
N1697S |
probably damaging |
Het |
Serpinb3a |
T |
A |
1: 106,974,907 (GRCm39) |
M209L |
probably damaging |
Het |
Shank3 |
A |
G |
15: 89,432,888 (GRCm39) |
D1211G |
possibly damaging |
Het |
Slc22a12 |
C |
A |
19: 6,592,514 (GRCm39) |
R90L |
possibly damaging |
Het |
Slc6a13 |
G |
A |
6: 121,313,901 (GRCm39) |
W548* |
probably null |
Het |
Srfbp1 |
T |
A |
18: 52,609,392 (GRCm39) |
L59* |
probably null |
Het |
Ss18 |
A |
T |
18: 14,803,380 (GRCm39) |
S73T |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,135,508 (GRCm39) |
K189R |
probably benign |
Het |
Szt2 |
G |
T |
4: 118,239,985 (GRCm39) |
|
probably benign |
Het |
Tbx1 |
T |
A |
16: 18,402,937 (GRCm39) |
H183L |
probably damaging |
Het |
Thop1 |
A |
G |
10: 80,915,972 (GRCm39) |
E385G |
possibly damaging |
Het |
Tmem168 |
C |
A |
6: 13,602,849 (GRCm39) |
M172I |
possibly damaging |
Het |
Tmem67 |
A |
G |
4: 12,058,559 (GRCm39) |
Y513H |
probably damaging |
Het |
Top1 |
A |
G |
2: 160,562,921 (GRCm39) |
D709G |
probably damaging |
Het |
Tprg1l |
A |
C |
4: 154,242,890 (GRCm39) |
S247A |
probably damaging |
Het |
Trim46 |
A |
G |
3: 89,143,692 (GRCm39) |
S602P |
probably damaging |
Het |
Ttc7b |
T |
C |
12: 100,466,433 (GRCm39) |
K60E |
probably benign |
Het |
Ttn |
G |
A |
2: 76,714,815 (GRCm39) |
S8053F |
unknown |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Usp24 |
T |
A |
4: 106,234,762 (GRCm39) |
H956Q |
probably benign |
Het |
Vcp |
T |
C |
4: 42,980,828 (GRCm39) |
T761A |
probably benign |
Het |
Xpc |
G |
A |
6: 91,477,956 (GRCm39) |
T309I |
possibly damaging |
Het |
Zfp560 |
C |
T |
9: 20,260,895 (GRCm39) |
M129I |
probably benign |
Het |
Zpld2 |
G |
A |
4: 133,929,978 (GRCm39) |
T109I |
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 |
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 |
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'- AAATGGTGTGCTCCGTCCAAG -3'
(R):5'- AACAGCTGCCCATTGTCTG -3'
Sequencing Primer
(F):5'- TGCTCCGTCCAAGACCGTC -3'
(R):5'- CCCATTGTCTGCGTTGATGGAG -3'
|
Posted On |
2021-10-11 |