Incidental Mutation 'R4837:Pcdhb18'
| ID |
374376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb18
|
| Ensembl Gene |
ENSMUSG00000048347 |
| Gene Name |
protocadherin beta 18 |
| Synonyms |
Pcdhb9, PcdhbR |
| MMRRC Submission |
042452-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R4837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37622524-37627558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37622867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 66
(V66M)
|
| 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: V66M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: V66M
| 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 |
0.7617 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
99% (75/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,846,203 (GRCm39) |
H618L |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,914,081 (GRCm39) |
T1230A |
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,749,359 (GRCm39) |
S203P |
probably benign |
Het |
| Allc |
A |
G |
12: 28,609,308 (GRCm39) |
V244A |
probably benign |
Het |
| Ap3m1 |
G |
A |
14: 21,087,225 (GRCm39) |
P157L |
probably damaging |
Het |
| Arhgef2 |
T |
G |
3: 88,540,250 (GRCm39) |
I97S |
probably damaging |
Het |
| Btaf1 |
C |
A |
19: 36,944,185 (GRCm39) |
T398K |
probably benign |
Het |
| Cabp1 |
T |
C |
5: 115,311,212 (GRCm39) |
M158V |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,549,863 (GRCm39) |
P340L |
probably benign |
Het |
| Ccdc168 |
G |
A |
1: 44,100,594 (GRCm39) |
T168I |
possibly damaging |
Het |
| Clip4 |
A |
G |
17: 72,141,217 (GRCm39) |
K524E |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,586,474 (GRCm39) |
V189A |
probably benign |
Het |
| Cmc2 |
A |
G |
8: 117,620,879 (GRCm39) |
F34S |
probably damaging |
Het |
| Ctcfl |
G |
T |
2: 172,955,449 (GRCm39) |
T271N |
probably benign |
Het |
| Cyp4f16 |
T |
A |
17: 32,761,738 (GRCm39) |
F124I |
possibly damaging |
Het |
| Ddx41 |
C |
A |
13: 55,679,461 (GRCm39) |
R479L |
possibly damaging |
Het |
| Dgcr6 |
C |
A |
16: 17,884,710 (GRCm39) |
N87K |
possibly damaging |
Het |
| Dll1 |
A |
G |
17: 15,589,121 (GRCm39) |
L518P |
probably damaging |
Het |
| Dnaja4 |
G |
T |
9: 54,617,928 (GRCm39) |
M263I |
probably benign |
Het |
| Dusp13b |
T |
A |
14: 21,793,593 (GRCm39) |
|
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,685,375 (GRCm39) |
I357N |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,838,678 (GRCm39) |
Y2522C |
unknown |
Het |
| Fam222a |
T |
A |
5: 114,732,458 (GRCm39) |
C4* |
probably null |
Het |
| Filip1 |
T |
C |
9: 79,726,741 (GRCm39) |
D626G |
probably damaging |
Het |
| Ghrhr |
C |
T |
6: 55,365,172 (GRCm39) |
R389C |
probably damaging |
Het |
| Gstm3 |
T |
A |
3: 107,871,531 (GRCm39) |
T217S |
probably benign |
Het |
| Gucy2g |
T |
C |
19: 55,214,485 (GRCm39) |
T548A |
probably benign |
Het |
| Hectd3 |
T |
A |
4: 116,859,794 (GRCm39) |
C744S |
probably null |
Het |
| Hnrnpl |
T |
C |
7: 28,516,762 (GRCm39) |
S184P |
probably benign |
Het |
| Il3 |
G |
A |
11: 54,158,083 (GRCm39) |
|
probably benign |
Het |
| Itga5 |
C |
T |
15: 103,262,511 (GRCm39) |
G330S |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,904,312 (GRCm39) |
T355A |
possibly damaging |
Het |
| Lipk |
A |
C |
19: 34,009,720 (GRCm39) |
S208R |
probably damaging |
Het |
| Mrs2 |
T |
A |
13: 25,183,040 (GRCm39) |
|
probably null |
Het |
| Mutyh |
A |
G |
4: 116,674,887 (GRCm39) |
E372G |
probably damaging |
Het |
| Myh4 |
C |
A |
11: 67,149,818 (GRCm39) |
A1821D |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,279,693 (GRCm39) |
E881G |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,136,552 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,383,759 (GRCm39) |
E52G |
probably damaging |
Het |
| Opn4 |
A |
G |
14: 34,318,261 (GRCm39) |
V242A |
probably damaging |
Het |
| Or4e1 |
A |
T |
14: 52,701,103 (GRCm39) |
M121K |
probably damaging |
Het |
| Or4k44 |
T |
A |
2: 111,368,319 (GRCm39) |
H105L |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,748 (GRCm39) |
T160A |
probably benign |
Het |
| Or6b1 |
T |
G |
6: 42,814,783 (GRCm39) |
|
probably null |
Het |
| Or6b2b |
A |
G |
1: 92,418,697 (GRCm39) |
V260A |
probably benign |
Het |
| Paxbp1 |
G |
A |
16: 90,831,866 (GRCm39) |
Q341* |
probably null |
Het |
| Pcdh7 |
T |
C |
5: 57,877,753 (GRCm39) |
V436A |
possibly damaging |
Het |
| Pikfyve |
A |
G |
1: 65,285,749 (GRCm39) |
E951G |
possibly damaging |
Het |
| Plcg1 |
A |
G |
2: 160,592,906 (GRCm39) |
N179S |
probably benign |
Het |
| Prr11 |
A |
C |
11: 86,989,517 (GRCm39) |
S285A |
probably benign |
Het |
| Ranbp17 |
A |
G |
11: 33,278,451 (GRCm39) |
S139P |
probably damaging |
Het |
| Rasa4 |
G |
A |
5: 136,120,664 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
G |
C |
11: 119,333,589 (GRCm39) |
G2934R |
probably benign |
Het |
| Rpap1 |
A |
G |
2: 119,608,732 (GRCm39) |
V210A |
probably benign |
Het |
| Rpn1 |
T |
A |
6: 88,067,187 (GRCm39) |
N182K |
probably benign |
Het |
| Rps24 |
C |
T |
14: 24,541,855 (GRCm39) |
T14I |
possibly damaging |
Het |
| Rrp12 |
C |
T |
19: 41,865,944 (GRCm39) |
|
probably null |
Het |
| Rttn |
T |
A |
18: 89,108,539 (GRCm39) |
|
probably null |
Het |
| Rufy1 |
A |
G |
11: 50,292,320 (GRCm39) |
S490P |
probably damaging |
Het |
| Sec62 |
T |
A |
3: 30,864,018 (GRCm39) |
M100K |
unknown |
Het |
| Spata16 |
A |
G |
3: 26,787,081 (GRCm39) |
H253R |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,158,134 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
A |
G |
4: 135,072,823 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
G |
A |
11: 121,473,611 (GRCm39) |
|
probably null |
Het |
| Tedc2 |
C |
A |
17: 24,439,567 (GRCm39) |
A25S |
probably damaging |
Het |
| Tnr |
A |
T |
1: 159,512,358 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
C |
17: 34,936,981 (GRCm39) |
D3730A |
probably damaging |
Het |
| Tor2a |
G |
A |
2: 32,650,609 (GRCm39) |
G201D |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,395,856 (GRCm39) |
T558A |
probably benign |
Het |
| Vmn1r211 |
G |
T |
13: 23,036,296 (GRCm39) |
Q124K |
probably benign |
Het |
| Wasf3 |
T |
C |
5: 146,397,788 (GRCm39) |
V185A |
probably benign |
Het |
| Zbtb12 |
A |
G |
17: 35,114,985 (GRCm39) |
T257A |
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 |
|
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 |
|
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'- CTGTGCTGACACCTGTAGTAAAG -3'
(R):5'- CAGAATTCTCAGCTCAGCCC -3'
Sequencing Primer
(F):5'- CAGAGGATCATGTGTCTCCAGAC -3'
(R):5'- TCAGCTCAGCCCGGTAAATCTG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation