Incidental Mutation 'R9525:Pcdhb18'
| ID |
719184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb18
|
| Ensembl Gene |
ENSMUSG00000048347 |
| Gene Name |
protocadherin beta 18 |
| Synonyms |
Pcdhb9, PcdhbR |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R9525 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37622524-37627558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37624887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 739
(V739E)
|
| 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 damaging
Transcript: ENSMUST00000055949
AA Change: V739E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: V739E
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
A |
4: 144,282,000 (GRCm39) |
D264V |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,593,453 (GRCm39) |
G4178E |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,399,288 (GRCm39) |
Y2097H |
probably damaging |
Het |
| Anapc2 |
T |
C |
2: 25,166,339 (GRCm39) |
S369P |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,792,610 (GRCm39) |
A1644V |
possibly damaging |
Het |
| Camsap1 |
G |
A |
2: 25,843,962 (GRCm39) |
H230Y |
probably benign |
Het |
| Cbx7 |
A |
C |
15: 79,814,797 (GRCm39) |
W35G |
probably damaging |
Het |
| Cc2d2b |
T |
C |
19: 40,773,430 (GRCm39) |
Y498H |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,559,222 (GRCm39) |
R126W |
probably damaging |
Het |
| Cd274 |
T |
A |
19: 29,359,879 (GRCm39) |
L228Q |
probably benign |
Het |
| Cfap57 |
A |
T |
4: 118,433,778 (GRCm39) |
I1000N |
probably damaging |
Het |
| Cfhr4 |
G |
T |
1: 139,702,250 (GRCm39) |
T78K |
probably damaging |
Het |
| Chadl |
C |
A |
15: 81,578,220 (GRCm39) |
G470C |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,740,677 (GRCm39) |
L1217P |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,770,198 (GRCm39) |
V215A |
probably benign |
Het |
| Dbx2 |
G |
T |
15: 95,552,304 (GRCm39) |
H114N |
probably benign |
Het |
| Ddb2 |
T |
G |
2: 91,065,180 (GRCm39) |
T82P |
probably benign |
Het |
| Emc8 |
T |
C |
8: 121,394,656 (GRCm39) |
Y21C |
probably damaging |
Het |
| Epha1 |
A |
T |
6: 42,344,758 (GRCm39) |
M66K |
probably damaging |
Het |
| Fan1 |
A |
C |
7: 64,022,007 (GRCm39) |
|
probably null |
Het |
| Fgd2 |
T |
A |
17: 29,583,955 (GRCm39) |
L123Q |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,905,481 (GRCm38) |
V1077E |
probably damaging |
Het |
| Fnbp1l |
A |
T |
3: 122,352,703 (GRCm39) |
M251K |
probably damaging |
Het |
| Gal3st2c |
T |
A |
1: 93,935,928 (GRCm39) |
F93L |
probably damaging |
Het |
| Gdf2 |
T |
C |
14: 33,667,564 (GRCm39) |
*429Q |
probably null |
Het |
| Gdpd5 |
A |
G |
7: 99,104,156 (GRCm39) |
T455A |
possibly damaging |
Het |
| Gm8356 |
G |
T |
14: 17,691,339 (GRCm39) |
Q109K |
|
Het |
| Gpr20 |
A |
T |
15: 73,567,681 (GRCm39) |
V236E |
probably benign |
Het |
| Gpr39 |
T |
C |
1: 125,800,323 (GRCm39) |
V358A |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,472 (GRCm39) |
N613D |
probably damaging |
Het |
| H2bc15 |
G |
T |
13: 21,938,305 (GRCm39) |
A5S |
unknown |
Het |
| Hepacam2 |
A |
G |
6: 3,476,046 (GRCm39) |
V293A |
probably benign |
Het |
| Igf1r |
G |
A |
7: 67,864,682 (GRCm39) |
R1160Q |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,738,217 (GRCm39) |
Y12H |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,658,711 (GRCm39) |
S393G |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,128,929 (GRCm39) |
M507V |
probably null |
Het |
| Mast4 |
G |
T |
13: 102,872,944 (GRCm39) |
H2141Q |
probably benign |
Het |
| Mkrn2 |
T |
A |
6: 115,587,486 (GRCm39) |
D54E |
probably damaging |
Het |
| Mrm3 |
A |
G |
11: 76,141,104 (GRCm39) |
T371A |
possibly damaging |
Het |
| Msantd5f3 |
G |
A |
4: 73,573,061 (GRCm39) |
S100N |
probably benign |
Het |
| Mylk2 |
T |
A |
2: 152,759,552 (GRCm39) |
M414K |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,448,748 (GRCm39) |
E317G |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,310,142 (GRCm39) |
I105N |
probably damaging |
Het |
| Or51i2 |
A |
G |
7: 103,689,820 (GRCm39) |
I272M |
possibly damaging |
Het |
| Or8k20 |
A |
G |
2: 86,106,484 (GRCm39) |
S116P |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,448,322 (GRCm39) |
T3834S |
possibly damaging |
Het |
| Pkp3 |
A |
G |
7: 140,668,310 (GRCm39) |
D546G |
probably damaging |
Het |
| Pot1a |
A |
T |
6: 25,745,916 (GRCm39) |
M595K |
probably benign |
Het |
| Pus7l |
A |
G |
15: 94,438,764 (GRCm39) |
I27T |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,676,402 (GRCm39) |
I117V |
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,247,375 (GRCm39) |
L454H |
probably damaging |
Het |
| Rps6kb1 |
C |
A |
11: 86,410,746 (GRCm39) |
K167N |
possibly damaging |
Het |
| Saxo1 |
A |
T |
4: 86,363,186 (GRCm39) |
Y432* |
probably null |
Het |
| Setdb2 |
A |
T |
14: 59,646,841 (GRCm39) |
V558E |
probably benign |
Het |
| Spmap2l |
A |
G |
5: 77,195,138 (GRCm39) |
N104S |
probably benign |
Het |
| Tbck |
T |
C |
3: 132,456,966 (GRCm39) |
F627L |
probably damaging |
Het |
| Tbpl2 |
T |
G |
2: 23,986,547 (GRCm39) |
M1L |
probably benign |
Het |
| Timp2 |
A |
C |
11: 118,194,678 (GRCm39) |
D170E |
probably benign |
Het |
| Tomm40 |
A |
G |
7: 19,436,812 (GRCm39) |
Y303H |
probably damaging |
Het |
| Trgv5 |
T |
C |
13: 19,376,885 (GRCm39) |
C111R |
probably damaging |
Het |
| Trhr |
T |
C |
15: 44,060,873 (GRCm39) |
I131T |
possibly damaging |
Het |
| Vmn1r159 |
A |
G |
7: 22,542,417 (GRCm39) |
V205A |
probably damaging |
Het |
| Vmn2r25 |
G |
T |
6: 123,800,164 (GRCm39) |
T726K |
probably damaging |
Het |
| Wwox |
T |
A |
8: 115,433,105 (GRCm39) |
V257E |
probably benign |
Het |
| Xxylt1 |
A |
G |
16: 30,869,593 (GRCm39) |
I169T |
probably benign |
Het |
| Zfp1007 |
A |
T |
5: 109,824,846 (GRCm39) |
N201K |
|
Het |
| Zfp457 |
T |
C |
13: 67,441,492 (GRCm39) |
Y361C |
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 |
|
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 |
|
|
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'- AAGGACAATGGCGATCCTCC -3'
(R):5'- ACCTACTTGGAAGTTGAAAACGAAG -3'
Sequencing Primer
(F):5'- AGAGGTGGCGCACAATCC -3'
(R):5'- ACGAAGTTAGTTTTGCTGTGTAGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation