Incidental Mutation 'R1726:Pcdhb14'
| ID |
198184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb14
|
| Ensembl Gene |
ENSMUSG00000044043 |
| Gene Name |
protocadherin beta 14 |
| Synonyms |
Pcdhb17, 2210006M07Rik, PcdhbN |
| MMRRC Submission |
039758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R1726 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37580710-37584147 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 37582647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 584
(Y584*)
|
| 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 null
Transcript: ENSMUST00000052387
AA Change: Y584*
|
| SMART Domains |
Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
AA Change: Y584*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
C |
12: 118,838,536 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
A |
T |
12: 118,871,267 (GRCm39) |
S711T |
possibly damaging |
Het |
| Acoxl |
G |
A |
2: 127,722,366 (GRCm39) |
G216R |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,504,228 (GRCm39) |
N949I |
possibly damaging |
Het |
| Bltp3a |
C |
A |
17: 28,105,225 (GRCm39) |
|
probably null |
Het |
| Brip1 |
A |
T |
11: 85,955,740 (GRCm39) |
S924R |
probably benign |
Het |
| Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
| Ccdc141 |
A |
G |
2: 76,938,700 (GRCm39) |
|
probably benign |
Het |
| Ccdc80 |
A |
T |
16: 44,916,368 (GRCm39) |
T375S |
probably benign |
Het |
| Ccl11 |
A |
G |
11: 81,952,546 (GRCm39) |
K40E |
possibly damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,668,509 (GRCm39) |
C269S |
probably damaging |
Het |
| Dgat2 |
A |
G |
7: 98,831,623 (GRCm39) |
S33P |
possibly damaging |
Het |
| Dip2c |
A |
G |
13: 9,625,464 (GRCm39) |
D608G |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,388,715 (GRCm39) |
D889E |
probably damaging |
Het |
| Dvl2 |
A |
T |
11: 69,900,287 (GRCm39) |
T694S |
probably benign |
Het |
| Elapor1 |
A |
G |
3: 108,375,184 (GRCm39) |
I561T |
possibly damaging |
Het |
| Fbf1 |
A |
G |
11: 116,036,280 (GRCm39) |
V1100A |
probably benign |
Het |
| Galt |
G |
A |
4: 41,756,001 (GRCm39) |
W22* |
probably null |
Het |
| Garem1 |
C |
A |
18: 21,281,319 (GRCm39) |
V346L |
probably damaging |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm10762 |
A |
T |
2: 128,809,135 (GRCm39) |
|
probably benign |
Het |
| Gm21900 |
A |
G |
Y: 10,616,358 (GRCm39) |
|
probably null |
Het |
| Gm2663 |
T |
C |
6: 40,974,960 (GRCm39) |
Y37C |
probably damaging |
Het |
| Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
C |
A |
10: 75,828,361 (GRCm39) |
P314T |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,326,467 (GRCm39) |
E348G |
possibly damaging |
Het |
| H2-T24 |
T |
A |
17: 36,326,513 (GRCm39) |
M129L |
probably benign |
Het |
| Ikzf2 |
C |
A |
1: 69,587,847 (GRCm39) |
R214L |
probably damaging |
Het |
| Insyn2a |
T |
C |
7: 134,500,867 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,330,664 (GRCm39) |
L1691Q |
probably damaging |
Het |
| Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
| Lrp10 |
T |
C |
14: 54,707,113 (GRCm39) |
L650P |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,413,977 (GRCm39) |
P368S |
possibly damaging |
Het |
| Mob3b |
A |
G |
4: 34,954,028 (GRCm39) |
M214T |
probably benign |
Het |
| Mrpl1 |
T |
C |
5: 96,371,686 (GRCm39) |
V71A |
probably benign |
Het |
| Mrpl57 |
A |
G |
14: 58,064,092 (GRCm39) |
E40G |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,774,547 (GRCm39) |
V162A |
possibly damaging |
Het |
| Nalcn |
A |
T |
14: 123,545,816 (GRCm39) |
V1065E |
probably damaging |
Het |
| Nemp2 |
A |
G |
1: 52,676,554 (GRCm39) |
D42G |
probably damaging |
Het |
| Npepps |
A |
G |
11: 97,115,495 (GRCm39) |
L623P |
probably damaging |
Het |
| Olig3 |
A |
G |
10: 19,232,482 (GRCm39) |
S36G |
probably benign |
Het |
| Or10j5 |
A |
G |
1: 172,784,658 (GRCm39) |
T99A |
probably benign |
Het |
| Or11g26 |
T |
A |
14: 50,753,636 (GRCm39) |
|
probably null |
Het |
| Or5e1 |
T |
C |
7: 108,354,215 (GRCm39) |
S51P |
probably benign |
Het |
| Pcyox1l |
T |
C |
18: 61,830,849 (GRCm39) |
Y341C |
probably benign |
Het |
| Pdxdc1 |
A |
C |
16: 13,656,164 (GRCm39) |
|
probably null |
Het |
| Pias4 |
A |
C |
10: 80,991,689 (GRCm39) |
V313G |
probably damaging |
Het |
| Pkd1 |
C |
T |
17: 24,783,150 (GRCm39) |
T81M |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,349,322 (GRCm39) |
I40M |
probably damaging |
Het |
| Reep6 |
T |
C |
10: 80,170,954 (GRCm39) |
S277P |
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,442,189 (GRCm39) |
E1694G |
probably damaging |
Het |
| Shq1 |
T |
C |
6: 100,613,996 (GRCm39) |
Y274C |
probably benign |
Het |
| Slc12a6 |
T |
A |
2: 112,177,771 (GRCm39) |
I630N |
probably damaging |
Het |
| Slc14a1 |
T |
A |
18: 78,159,681 (GRCm39) |
N15Y |
probably benign |
Het |
| Slc17a4 |
A |
T |
13: 24,089,574 (GRCm39) |
Y114* |
probably null |
Het |
| Slc26a1 |
C |
T |
5: 108,821,541 (GRCm39) |
G116D |
probably damaging |
Het |
| Smg8 |
G |
T |
11: 86,971,439 (GRCm39) |
Y777* |
probably null |
Het |
| Tlr11 |
A |
T |
14: 50,598,998 (GRCm39) |
H328L |
probably benign |
Het |
| Ube2c |
G |
T |
2: 164,613,237 (GRCm39) |
A52S |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,523,864 (GRCm39) |
S806G |
probably damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,839 (GRCm39) |
I153K |
probably damaging |
Het |
| Zkscan2 |
T |
A |
7: 123,089,046 (GRCm39) |
E408D |
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 |
|
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 |
|
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'- TCGCTCATCTCCATCAACGCAG -3'
(R):5'- CGACCAGCAATACATGCAGTGTGAC -3'
Sequencing Primer
(F):5'- TCAACGCAGACAATGGGC -3'
(R):5'- ATTGTCCTTGACCAGCAGGAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation