Incidental Mutation 'IGL02945:Pcdhb18'
| ID |
364718 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcdhb18
|
| Ensembl Gene |
ENSMUSG00000048347 |
| Gene Name |
protocadherin beta 18 |
| Synonyms |
Pcdhb9, PcdhbR |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
IGL02945
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37622524-37627558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37623048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 126
(I126T)
|
| 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: I126T
PolyPhen 2
Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: I126T
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411G06Rik |
A |
T |
10: 51,633,095 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrf4 |
T |
C |
17: 42,978,257 (GRCm39) |
Q362R |
probably benign |
Het |
| Akap6 |
A |
G |
12: 52,927,620 (GRCm39) |
N177D |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,597,915 (GRCm39) |
I914V |
probably damaging |
Het |
| Arhgap11a |
A |
T |
2: 113,667,818 (GRCm39) |
S394R |
possibly damaging |
Het |
| Cacna1h |
C |
T |
17: 25,607,033 (GRCm39) |
V962I |
probably damaging |
Het |
| Calr3 |
A |
T |
8: 73,192,401 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ccnf |
T |
C |
17: 24,443,890 (GRCm39) |
E626G |
probably damaging |
Het |
| Clec10a |
A |
T |
11: 70,061,368 (GRCm39) |
I295F |
possibly damaging |
Het |
| Cop1 |
A |
T |
1: 159,134,259 (GRCm39) |
N167I |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 16,321,584 (GRCm39) |
Q505K |
possibly damaging |
Het |
| Ctrc |
A |
C |
4: 141,573,563 (GRCm39) |
V6G |
possibly damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,875,091 (GRCm39) |
R21G |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,270,572 (GRCm39) |
H958R |
probably benign |
Het |
| Egfr |
T |
A |
11: 16,702,514 (GRCm39) |
L11Q |
probably damaging |
Het |
| Erich2 |
A |
G |
2: 70,364,738 (GRCm39) |
T371A |
probably damaging |
Het |
| Fbxl21 |
T |
A |
13: 56,674,983 (GRCm39) |
F111L |
probably damaging |
Het |
| Grik4 |
G |
T |
9: 42,509,175 (GRCm39) |
T416N |
possibly damaging |
Het |
| Grin3a |
A |
G |
4: 49,792,971 (GRCm39) |
V254A |
possibly damaging |
Het |
| Hat1 |
G |
A |
2: 71,251,037 (GRCm39) |
R195K |
probably benign |
Het |
| Hmgb4 |
A |
C |
4: 128,154,387 (GRCm39) |
Y60* |
probably null |
Het |
| Ighv12-3 |
A |
G |
12: 114,330,337 (GRCm39) |
W53R |
probably damaging |
Het |
| Irs2 |
C |
A |
8: 11,057,781 (GRCm39) |
C217F |
probably damaging |
Het |
| Kcnb1 |
T |
C |
2: 167,030,308 (GRCm39) |
E79G |
probably benign |
Het |
| Lingo3 |
A |
G |
10: 80,670,532 (GRCm39) |
I466T |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,935,783 (GRCm39) |
S3665P |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,646,205 (GRCm39) |
L1926Q |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,399,088 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,245,569 (GRCm39) |
F198L |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,557,697 (GRCm39) |
T63A |
probably damaging |
Het |
| Nle1 |
A |
T |
11: 82,794,910 (GRCm39) |
|
probably benign |
Het |
| Nr3c2 |
A |
T |
8: 77,636,288 (GRCm39) |
D463V |
probably damaging |
Het |
| Or5k17 |
A |
T |
16: 58,746,703 (GRCm39) |
I77N |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,812 (GRCm39) |
I215V |
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,818,731 (GRCm39) |
I127V |
probably benign |
Het |
| Rai14 |
A |
G |
15: 10,574,795 (GRCm39) |
I721T |
probably benign |
Het |
| Rps6ka1 |
A |
G |
4: 133,594,510 (GRCm39) |
Y57H |
probably damaging |
Het |
| Scara3 |
T |
A |
14: 66,168,660 (GRCm39) |
D319V |
probably damaging |
Het |
| Selp |
G |
A |
1: 163,961,498 (GRCm39) |
G404S |
probably damaging |
Het |
| Serinc3 |
A |
G |
2: 163,472,836 (GRCm39) |
|
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,705,080 (GRCm39) |
|
probably null |
Het |
| Spen |
G |
T |
4: 141,221,624 (GRCm39) |
L325I |
unknown |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,315,970 (GRCm39) |
S326R |
possibly damaging |
Het |
| Tmem255b |
T |
C |
8: 13,505,141 (GRCm39) |
S149P |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,743,075 (GRCm39) |
S95T |
possibly damaging |
Het |
| Trim66 |
G |
A |
7: 109,059,383 (GRCm39) |
Q954* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,582,316 (GRCm39) |
I22859N |
probably damaging |
Het |
| Zfp319 |
A |
T |
8: 96,050,446 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation