Incidental Mutation 'R1517:Pcdhb18'
| ID |
167142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb18
|
| Ensembl Gene |
ENSMUSG00000048347 |
| Gene Name |
protocadherin beta 18 |
| Synonyms |
Pcdhb9, PcdhbR |
| MMRRC Submission |
039563-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
R1517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37622524-37627558 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 37622673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| 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 null
Transcript: ENSMUST00000055949
AA Change: M1K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: M1K
| 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 |
0.9600 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.9%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,862,640 (GRCm39) |
K375R |
possibly damaging |
Het |
| Adrb2 |
T |
C |
18: 62,311,871 (GRCm39) |
N318S |
probably damaging |
Het |
| Akap5 |
A |
C |
12: 76,376,036 (GRCm39) |
E489D |
possibly damaging |
Het |
| Aldh7a1 |
T |
A |
18: 56,665,133 (GRCm39) |
I385F |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,407,146 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
A |
8: 22,487,374 (GRCm39) |
T1314S |
probably damaging |
Het |
| Bhmt2 |
C |
A |
13: 93,798,847 (GRCm39) |
G325C |
probably damaging |
Het |
| Brpf1 |
T |
A |
6: 113,296,050 (GRCm39) |
V781E |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,575,720 (GRCm39) |
Y1860F |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,788,162 (GRCm39) |
T56A |
probably damaging |
Het |
| Cep78 |
A |
G |
19: 15,937,027 (GRCm39) |
S560P |
probably damaging |
Het |
| Cnot1 |
G |
A |
8: 96,469,841 (GRCm39) |
T1343I |
probably benign |
Het |
| Coq10b |
T |
C |
1: 55,103,416 (GRCm39) |
S65P |
probably damaging |
Het |
| Creld1 |
T |
A |
6: 113,466,745 (GRCm39) |
C243S |
probably damaging |
Het |
| Cst12 |
A |
T |
2: 148,635,172 (GRCm39) |
I121F |
possibly damaging |
Het |
| Cyp26a1 |
A |
C |
19: 37,687,308 (GRCm39) |
E165A |
probably benign |
Het |
| Cyp2d12 |
T |
G |
15: 82,442,337 (GRCm39) |
M273R |
probably damaging |
Het |
| Dnajb7 |
T |
A |
15: 81,291,657 (GRCm39) |
S227C |
probably damaging |
Het |
| Evc |
T |
A |
5: 37,476,379 (GRCm39) |
Q390L |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,970 (GRCm39) |
L351* |
probably null |
Het |
| Fga |
T |
C |
3: 82,939,145 (GRCm39) |
S507P |
probably benign |
Het |
| Gba1 |
A |
T |
3: 89,113,455 (GRCm39) |
Y239F |
probably damaging |
Het |
| Golga2 |
C |
A |
2: 32,195,996 (GRCm39) |
Y843* |
probably null |
Het |
| Gria4 |
C |
A |
9: 4,793,865 (GRCm39) |
L64F |
probably damaging |
Het |
| Hectd3 |
A |
G |
4: 116,860,191 (GRCm39) |
Y803C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,545,172 (GRCm39) |
K2812E |
probably damaging |
Het |
| Il17b |
T |
G |
18: 61,823,316 (GRCm39) |
V50G |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,357,151 (GRCm39) |
L243* |
probably null |
Het |
| Kank4 |
C |
A |
4: 98,667,266 (GRCm39) |
V394L |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,215,711 (GRCm39) |
D65E |
probably benign |
Het |
| Kcnh3 |
T |
C |
15: 99,136,090 (GRCm39) |
Y696H |
probably damaging |
Het |
| Kctd19 |
C |
A |
8: 106,122,008 (GRCm39) |
D180Y |
probably damaging |
Het |
| Klra8 |
A |
C |
6: 130,092,603 (GRCm39) |
S233A |
probably benign |
Het |
| Masp2 |
A |
T |
4: 148,696,563 (GRCm39) |
T387S |
possibly damaging |
Het |
| Midn |
C |
A |
10: 79,989,957 (GRCm39) |
T275N |
probably damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,180,587 (GRCm39) |
F965L |
probably benign |
Het |
| Myo3a |
G |
T |
2: 22,287,445 (GRCm39) |
V186L |
probably damaging |
Het |
| Ncoa2 |
T |
A |
1: 13,235,281 (GRCm39) |
N884I |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,581,016 (GRCm39) |
I221T |
probably damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,502 (GRCm39) |
C97* |
probably null |
Het |
| Or8k35 |
T |
A |
2: 86,424,948 (GRCm39) |
T75S |
probably damaging |
Het |
| Osr2 |
T |
C |
15: 35,300,813 (GRCm39) |
V123A |
probably benign |
Het |
| P4ha2 |
A |
G |
11: 54,008,471 (GRCm39) |
H226R |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,151 (GRCm39) |
V37E |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,246,166 (GRCm39) |
Y181* |
probably null |
Het |
| Pros1 |
G |
T |
16: 62,705,875 (GRCm39) |
C63F |
probably damaging |
Het |
| Ranbp3l |
T |
A |
15: 9,065,081 (GRCm39) |
C353* |
probably null |
Het |
| Rev3l |
T |
C |
10: 39,714,439 (GRCm39) |
Y2388H |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rpl12-ps1 |
G |
T |
1: 36,997,458 (GRCm39) |
|
noncoding transcript |
Het |
| Rttn |
T |
C |
18: 89,131,474 (GRCm39) |
V1951A |
probably benign |
Het |
| Scn9a |
G |
A |
2: 66,335,371 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
T |
C |
5: 142,113,591 (GRCm39) |
F1546S |
probably damaging |
Het |
| Sh3glb2 |
C |
T |
2: 30,244,987 (GRCm39) |
R71Q |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,715,842 (GRCm39) |
F101L |
probably benign |
Het |
| Snrpd1 |
T |
C |
18: 10,626,913 (GRCm39) |
I60T |
probably damaging |
Het |
| Sox10 |
T |
A |
15: 79,043,378 (GRCm39) |
E218D |
probably benign |
Het |
| Tekt3 |
C |
A |
11: 62,961,316 (GRCm39) |
H162N |
probably damaging |
Het |
| Tnfsf13 |
T |
C |
11: 69,575,564 (GRCm39) |
S246G |
possibly damaging |
Het |
| Trim10 |
T |
A |
17: 37,183,346 (GRCm39) |
I214N |
probably damaging |
Het |
| Trp63 |
C |
A |
16: 25,708,003 (GRCm39) |
D566E |
probably damaging |
Het |
| Uck2 |
T |
C |
1: 167,062,293 (GRCm39) |
D156G |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,225 (GRCm39) |
S314R |
possibly damaging |
Het |
| Zfp467 |
C |
T |
6: 48,415,170 (GRCm39) |
R494H |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,601,470 (GRCm39) |
D138V |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,298,925 (GRCm39) |
E445G |
probably damaging |
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 |
|
R1519:Pcdhb18
|
UTSW |
18 |
37,623,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1597:Pcdhb18
|
UTSW |
18 |
37,624,820 (GRCm39) |
missense |
probably benign |
0.19 |
|
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'- TCTGTTGGAACCACATGGTGGC -3'
(R):5'- ACGGTCCAGTTTCTCATTTGTGAGC -3'
Sequencing Primer
(F):5'- TTAAAGTGAGTCTGCGCTAGAAGTC -3'
(R):5'- GCAAATCTCCAGTGTGAGAATC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation