Incidental Mutation 'R1597:Pcdhb18'
| ID |
175908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb18
|
| Ensembl Gene |
ENSMUSG00000048347 |
| Gene Name |
protocadherin beta 18 |
| Synonyms |
Pcdhb9, PcdhbR |
| MMRRC Submission |
039634-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
R1597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37622524-37627558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37624820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 717
(R717G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053856]
[ENSMUST00000055949]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91Y02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053856
|
| SMART Domains |
Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
31 |
112 |
5.8e-35 |
PFAM |
|
CA
|
155 |
240 |
2.42e-18 |
SMART |
|
CA
|
264 |
345 |
8.03e-24 |
SMART |
|
CA
|
368 |
449 |
5.81e-21 |
SMART |
|
CA
|
473 |
559 |
8.15e-25 |
SMART |
|
CA
|
589 |
670 |
6.34e-13 |
SMART |
|
Pfam:Cadherin_C_2
|
686 |
770 |
1.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055949
AA Change: R717G
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: R717G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_2
|
30 |
112 |
3.1e-34 |
PFAM |
|
CA
|
155 |
240 |
7.97e-19 |
SMART |
|
CA
|
264 |
345 |
6.27e-26 |
SMART |
|
CA
|
368 |
449 |
2.63e-19 |
SMART |
|
CA
|
473 |
559 |
7.09e-25 |
SMART |
|
CA
|
589 |
670 |
2.87e-11 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
771 |
7.9e-27 |
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 |
0.1326 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.1%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
A |
T |
19: 34,229,983 (GRCm39) |
|
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,902,881 (GRCm39) |
N748S |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,086,326 (GRCm39) |
I77N |
probably damaging |
Het |
| Ap1s1 |
A |
T |
5: 137,072,095 (GRCm39) |
M20K |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,835,892 (GRCm39) |
|
probably null |
Het |
| Atp1b1 |
G |
T |
1: 164,265,889 (GRCm39) |
R291S |
probably damaging |
Het |
| Birc7 |
T |
C |
2: 180,570,974 (GRCm39) |
V12A |
possibly damaging |
Het |
| Btnl2 |
T |
C |
17: 34,582,211 (GRCm39) |
V259A |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,377,343 (GRCm39) |
N434K |
probably benign |
Het |
| Cel |
G |
T |
2: 28,450,479 (GRCm39) |
|
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,271,074 (GRCm39) |
K349E |
probably damaging |
Het |
| Ddhd2 |
A |
G |
8: 26,239,768 (GRCm39) |
V315A |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,994,324 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,595,474 (GRCm39) |
T441A |
probably benign |
Het |
| Ermap |
A |
T |
4: 119,041,152 (GRCm39) |
I286N |
probably damaging |
Het |
| Fbxl17 |
T |
C |
17: 63,794,813 (GRCm39) |
K423R |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,561,940 (GRCm39) |
T856A |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,543,901 (GRCm39) |
E64G |
probably damaging |
Het |
| Gzma |
T |
A |
13: 113,232,331 (GRCm39) |
N190I |
probably damaging |
Het |
| Ifngr1 |
C |
T |
10: 19,485,090 (GRCm39) |
T363M |
probably damaging |
Het |
| Itga7 |
A |
G |
10: 128,782,732 (GRCm39) |
T690A |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,823,074 (GRCm39) |
E485G |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,123,336 (GRCm39) |
I203M |
probably damaging |
Het |
| Klhl1 |
A |
T |
14: 96,438,647 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
C |
T |
16: 32,770,781 (GRCm39) |
Q128* |
probably null |
Het |
| Lrriq4 |
C |
G |
3: 30,705,037 (GRCm39) |
P355R |
probably damaging |
Het |
| Mcm10 |
A |
T |
2: 5,003,563 (GRCm39) |
H551Q |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,319,060 (GRCm39) |
F763L |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,156,758 (GRCm39) |
V55E |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,931,016 (GRCm39) |
N92K |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,815,560 (GRCm39) |
S667P |
probably damaging |
Het |
| Mup5 |
A |
T |
4: 61,753,317 (GRCm39) |
Y15N |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,256,329 (GRCm39) |
M197L |
probably damaging |
Het |
| N4bp2 |
C |
T |
5: 65,964,483 (GRCm39) |
T844I |
probably benign |
Het |
| Nlrc3 |
T |
A |
16: 3,781,859 (GRCm39) |
R517W |
probably damaging |
Het |
| Nos3 |
A |
T |
5: 24,573,995 (GRCm39) |
I227F |
probably damaging |
Het |
| Or52a5 |
A |
G |
7: 103,427,267 (GRCm39) |
F95S |
probably benign |
Het |
| Pabpc2 |
A |
G |
18: 39,906,953 (GRCm39) |
N73D |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,413,964 (GRCm39) |
M1702L |
probably benign |
Het |
| Plxna2 |
A |
C |
1: 194,431,614 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,630,755 (GRCm39) |
M1221T |
possibly damaging |
Het |
| Polr2b |
A |
G |
5: 77,473,948 (GRCm39) |
D384G |
probably damaging |
Het |
| Ppl |
T |
A |
16: 4,925,438 (GRCm39) |
H67L |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,757,035 (GRCm39) |
L63S |
probably damaging |
Het |
| Psme1 |
A |
G |
14: 55,818,222 (GRCm39) |
T150A |
probably damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,621,940 (GRCm39) |
R33C |
probably damaging |
Het |
| Rela |
G |
A |
19: 5,695,359 (GRCm39) |
R295H |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,320,421 (GRCm39) |
V326E |
probably damaging |
Het |
| Scn5a |
C |
A |
9: 119,391,563 (GRCm39) |
R43L |
probably damaging |
Het |
| Skida1 |
T |
C |
2: 18,051,143 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
G |
A |
5: 89,283,587 (GRCm39) |
A469T |
probably benign |
Het |
| Spaca7 |
G |
T |
8: 12,630,991 (GRCm39) |
E48* |
probably null |
Het |
| Syn3 |
G |
T |
10: 85,970,908 (GRCm39) |
T238K |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,470,626 (GRCm39) |
S60P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,151,128 (GRCm39) |
I256T |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,552,196 (GRCm39) |
|
probably null |
Het |
| Tex15 |
A |
G |
8: 34,061,511 (GRCm39) |
T588A |
probably damaging |
Het |
| Tgfbi |
T |
A |
13: 56,780,004 (GRCm39) |
|
probably benign |
Het |
| Tmem62 |
G |
A |
2: 120,814,843 (GRCm39) |
A169T |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,924,621 (GRCm39) |
S1026P |
probably benign |
Het |
| Tnik |
T |
C |
3: 28,658,418 (GRCm39) |
S568P |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,804,888 (GRCm39) |
I947F |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,170,402 (GRCm39) |
L832Q |
possibly damaging |
Het |
| U2surp |
C |
T |
9: 95,363,793 (GRCm39) |
|
probably benign |
Het |
| Ube4a |
A |
T |
9: 44,841,064 (GRCm39) |
D1009E |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,965,262 (GRCm39) |
E192G |
probably benign |
Het |
| Vmn2r71 |
T |
C |
7: 85,273,352 (GRCm39) |
V722A |
possibly damaging |
Het |
| Zfp386 |
T |
C |
12: 116,023,709 (GRCm39) |
S476P |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,786,199 (GRCm39) |
V116D |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,644,755 (GRCm39) |
N1149I |
probably benign |
Het |
|
| Other mutations in Pcdhb18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01685:Pcdhb18
|
APN |
18 |
37,624,984 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02651:Pcdhb18
|
APN |
18 |
37,624,234 (GRCm39) |
nonsense |
probably null |
|
|
IGL02721:Pcdhb18
|
APN |
18 |
37,623,084 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02945:Pcdhb18
|
APN |
18 |
37,623,048 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03030:Pcdhb18
|
APN |
18 |
37,623,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03346:Pcdhb18
|
APN |
18 |
37,622,674 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R0206:Pcdhb18
|
UTSW |
18 |
37,623,240 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0208:Pcdhb18
|
UTSW |
18 |
37,623,240 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0680:Pcdhb18
|
UTSW |
18 |
37,623,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1517:Pcdhb18
|
UTSW |
18 |
37,622,673 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1519:Pcdhb18
|
UTSW |
18 |
37,623,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1735:Pcdhb18
|
UTSW |
18 |
37,623,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2089:Pcdhb18
|
UTSW |
18 |
37,623,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2091:Pcdhb18
|
UTSW |
18 |
37,623,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2091:Pcdhb18
|
UTSW |
18 |
37,623,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2206:Pcdhb18
|
UTSW |
18 |
37,624,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2207:Pcdhb18
|
UTSW |
18 |
37,624,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4773:Pcdhb18
|
UTSW |
18 |
37,623,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Pcdhb18
|
UTSW |
18 |
37,622,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5271:Pcdhb18
|
UTSW |
18 |
37,624,649 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5568:Pcdhb18
|
UTSW |
18 |
37,624,853 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5647:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5648:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5690:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5692:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5812:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5813:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5928:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5929:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5930:Pcdhb18
|
UTSW |
18 |
37,624,988 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6209:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6255:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6602:Pcdhb18
|
UTSW |
18 |
37,623,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6699:Pcdhb18
|
UTSW |
18 |
37,625,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7055:Pcdhb18
|
UTSW |
18 |
37,623,864 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7197:Pcdhb18
|
UTSW |
18 |
37,623,436 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7289:Pcdhb18
|
UTSW |
18 |
37,623,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7345:Pcdhb18
|
UTSW |
18 |
37,624,976 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7403:Pcdhb18
|
UTSW |
18 |
37,624,950 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7541:Pcdhb18
|
UTSW |
18 |
37,624,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7651:Pcdhb18
|
UTSW |
18 |
37,624,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7670:Pcdhb18
|
UTSW |
18 |
37,624,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7673:Pcdhb18
|
UTSW |
18 |
37,624,790 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7783:Pcdhb18
|
UTSW |
18 |
37,622,874 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7819:Pcdhb18
|
UTSW |
18 |
37,624,308 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7826:Pcdhb18
|
UTSW |
18 |
37,623,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7857:Pcdhb18
|
UTSW |
18 |
37,624,364 (GRCm39) |
missense |
probably benign |
|
|
R7866:Pcdhb18
|
UTSW |
18 |
37,623,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7895:Pcdhb18
|
UTSW |
18 |
37,623,520 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8773:Pcdhb18
|
UTSW |
18 |
37,624,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Pcdhb18
|
UTSW |
18 |
37,623,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8891:Pcdhb18
|
UTSW |
18 |
37,623,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8938:Pcdhb18
|
UTSW |
18 |
37,623,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9303:Pcdhb18
|
UTSW |
18 |
37,625,004 (GRCm39) |
missense |
probably benign |
|
|
R9305:Pcdhb18
|
UTSW |
18 |
37,625,004 (GRCm39) |
missense |
probably benign |
|
|
R9525:Pcdhb18
|
UTSW |
18 |
37,624,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Pcdhb18
|
UTSW |
18 |
37,623,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9696:Pcdhb18
|
UTSW |
18 |
37,623,606 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0022:Pcdhb18
|
UTSW |
18 |
37,623,326 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGATGGCTTCTCTCAGCCCTA -3'
(R):5'- TGGTGGAGCATTTTCTTACCATGCAA -3'
Sequencing Primer
(F):5'- AGCCCTACCTGCCTCTG -3'
(R):5'- CCTGGGAACTATAAGCATGAACTTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation