Incidental Mutation 'R5813:Pcdhb18'
| ID |
447655 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5813 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37622524-37627558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37623537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 289
(R289Q)
|
| 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: R289Q
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: R289Q
| 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 |
0.0907 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
A |
G |
3: 89,253,135 (GRCm39) |
Y230H |
probably benign |
Het |
| Ano7 |
G |
T |
1: 93,312,641 (GRCm39) |
|
probably null |
Het |
| Arap2 |
T |
C |
5: 62,834,506 (GRCm39) |
Y792C |
probably damaging |
Het |
| Art3 |
C |
A |
5: 92,560,100 (GRCm39) |
|
probably benign |
Het |
| Atad2 |
C |
T |
15: 57,963,250 (GRCm39) |
G1085D |
probably benign |
Het |
| Birc6 |
C |
A |
17: 74,953,497 (GRCm39) |
A3253E |
probably damaging |
Het |
| C9 |
C |
T |
15: 6,526,607 (GRCm39) |
P547L |
probably benign |
Het |
| Cecr2 |
T |
C |
6: 120,739,169 (GRCm39) |
S1271P |
probably damaging |
Het |
| Ces1e |
T |
A |
8: 93,948,305 (GRCm39) |
K105* |
probably null |
Het |
| Cpsf4 |
A |
G |
5: 145,115,683 (GRCm39) |
N204S |
probably benign |
Het |
| Cracd |
A |
G |
5: 77,006,275 (GRCm39) |
T879A |
unknown |
Het |
| Dgkz |
T |
C |
2: 91,769,733 (GRCm39) |
D615G |
possibly damaging |
Het |
| Disp1 |
G |
T |
1: 182,869,974 (GRCm39) |
N815K |
probably damaging |
Het |
| Enah |
A |
G |
1: 181,758,750 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,800,919 (GRCm39) |
T1322A |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,918,395 (GRCm39) |
F516L |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,323,136 (GRCm39) |
A1096T |
probably damaging |
Het |
| Fyco1 |
T |
C |
9: 123,660,413 (GRCm39) |
Y190C |
probably damaging |
Het |
| Gfra1 |
T |
C |
19: 58,227,687 (GRCm39) |
D417G |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,368,485 (GRCm39) |
I1055T |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,398,146 (GRCm39) |
E444G |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,559,901 (GRCm39) |
T519A |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,009,931 (GRCm39) |
S727P |
probably benign |
Het |
| Kidins220 |
A |
T |
12: 25,107,139 (GRCm39) |
K1531* |
probably null |
Het |
| Ksr1 |
C |
T |
11: 78,929,024 (GRCm39) |
V266M |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lipi |
T |
C |
16: 75,370,798 (GRCm39) |
R140G |
possibly damaging |
Het |
| Lrrc32 |
T |
C |
7: 98,147,618 (GRCm39) |
S133P |
probably damaging |
Het |
| Map3k7 |
T |
A |
4: 31,964,318 (GRCm39) |
I19N |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,970,449 (GRCm39) |
V90A |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,621,877 (GRCm39) |
L673P |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,966,229 (GRCm39) |
H48R |
probably benign |
Het |
| Mettl26 |
G |
A |
17: 26,094,995 (GRCm39) |
V87M |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,511,696 (GRCm39) |
R5G |
probably benign |
Het |
| Mtcl3 |
G |
T |
10: 29,026,240 (GRCm39) |
V441F |
probably damaging |
Het |
| Mterf1b |
T |
C |
5: 4,246,956 (GRCm39) |
V199A |
possibly damaging |
Het |
| Ncs1 |
T |
A |
2: 31,170,666 (GRCm39) |
|
probably null |
Het |
| Nek10 |
T |
C |
14: 14,986,704 (GRCm38) |
V1014A |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,042,744 (GRCm39) |
N1370D |
probably benign |
Het |
| Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
| Opn5 |
C |
G |
17: 42,903,897 (GRCm39) |
R146T |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or5m3 |
T |
C |
2: 85,838,636 (GRCm39) |
I172T |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,726,952 (GRCm39) |
M51K |
probably benign |
Het |
| Or8g33 |
A |
G |
9: 39,338,032 (GRCm39) |
C112R |
probably damaging |
Het |
| Pcyox1l |
C |
T |
18: 61,832,359 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
T |
C |
15: 89,044,962 (GRCm39) |
T1128A |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,425,127 (GRCm39) |
T960A |
probably benign |
Het |
| Prkaa2 |
A |
C |
4: 104,893,291 (GRCm39) |
*553G |
probably null |
Het |
| Rasgrp4 |
A |
G |
7: 28,844,639 (GRCm39) |
D297G |
probably damaging |
Het |
| Sdf4 |
G |
A |
4: 156,083,856 (GRCm39) |
V109I |
probably benign |
Het |
| Serpinb3d |
T |
C |
1: 107,007,027 (GRCm39) |
K227R |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,398,822 (GRCm39) |
I750N |
probably damaging |
Het |
| Shtn1 |
T |
A |
19: 59,020,673 (GRCm39) |
K183M |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,303,852 (GRCm39) |
T1257A |
probably benign |
Het |
| Slc22a30 |
T |
C |
19: 8,381,945 (GRCm39) |
T109A |
probably benign |
Het |
| Slco1c1 |
A |
G |
6: 141,487,929 (GRCm39) |
D99G |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 124,122,354 (GRCm39) |
|
probably null |
Het |
| Tex10 |
A |
G |
4: 48,452,928 (GRCm39) |
V677A |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,847,879 (GRCm39) |
S329P |
probably benign |
Het |
| Trappc10 |
T |
A |
10: 78,058,573 (GRCm39) |
N136I |
probably damaging |
Het |
| Trpt1 |
T |
C |
19: 6,975,906 (GRCm39) |
F173L |
probably benign |
Het |
| Ube4b |
G |
A |
4: 149,421,925 (GRCm39) |
R955C |
probably damaging |
Het |
| Usp34 |
C |
A |
11: 23,371,340 (GRCm39) |
P1840T |
probably benign |
Het |
| Vmn1r27 |
A |
T |
6: 58,192,985 (GRCm39) |
N6K |
possibly damaging |
Het |
| Wdr25 |
T |
C |
12: 108,993,347 (GRCm39) |
V521A |
possibly damaging |
Het |
| Wdr64 |
G |
A |
1: 175,639,623 (GRCm39) |
E1031K |
possibly damaging |
Het |
| Wnt10a |
A |
G |
1: 74,839,755 (GRCm39) |
N147S |
probably damaging |
Het |
| Zbed5 |
T |
C |
5: 129,931,059 (GRCm39) |
I336T |
possibly damaging |
Het |
| Zfp758 |
T |
A |
17: 22,594,796 (GRCm39) |
H427Q |
probably damaging |
Het |
| Zfp961 |
C |
A |
8: 72,722,070 (GRCm39) |
H194Q |
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 |
|
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'- TTTGGACATCAATGATAATGCCCC -3'
(R):5'- AACTGCCAGCACGGTTTCAG -3'
Sequencing Primer
(F):5'- CACAGTTTCCCCAAGAACTGTATG -3'
(R):5'- CGGTTTCAGGTGAGTTCTCAACAAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation