Incidental Mutation 'R5812:Pcdhb18'
ID |
447582 |
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 # |
R5812 (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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
A |
G |
3: 137,882,299 (GRCm39) |
S9P |
probably damaging |
Het |
Aadacl2fm2 |
T |
A |
3: 59,654,693 (GRCm39) |
Y176N |
probably damaging |
Het |
Acsl5 |
G |
A |
19: 55,283,268 (GRCm39) |
V615I |
probably benign |
Het |
Ankk1 |
T |
C |
9: 49,338,153 (GRCm39) |
K47E |
probably benign |
Het |
Ankrd11 |
A |
T |
8: 123,620,544 (GRCm39) |
|
probably null |
Het |
Bcl9l |
T |
C |
9: 44,417,941 (GRCm39) |
V593A |
probably benign |
Het |
Cadps |
T |
C |
14: 12,376,685 (GRCm38) |
I1271V |
probably benign |
Het |
Ccdc125 |
T |
C |
13: 100,820,812 (GRCm39) |
W152R |
probably damaging |
Het |
Cep192 |
T |
C |
18: 67,984,808 (GRCm39) |
V1606A |
possibly damaging |
Het |
Csgalnact1 |
T |
C |
8: 68,854,036 (GRCm39) |
N255S |
probably benign |
Het |
Cxxc5 |
T |
A |
18: 35,992,109 (GRCm39) |
V170E |
probably damaging |
Het |
Defb6 |
C |
T |
8: 19,278,110 (GRCm39) |
R61C |
possibly damaging |
Het |
Dnah10 |
T |
A |
5: 124,824,810 (GRCm39) |
N655K |
probably benign |
Het |
Fry |
G |
A |
5: 150,323,136 (GRCm39) |
A1096T |
probably damaging |
Het |
Gli1 |
C |
T |
10: 127,173,284 (GRCm39) |
G125S |
probably damaging |
Het |
Igkv14-126 |
A |
T |
6: 67,873,424 (GRCm39) |
I51F |
possibly damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Jtb |
T |
C |
3: 90,141,284 (GRCm39) |
S87P |
probably benign |
Het |
Kdm6b |
A |
T |
11: 69,296,755 (GRCm39) |
I504N |
probably damaging |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Map2k4 |
A |
G |
11: 65,626,031 (GRCm39) |
I136T |
probably damaging |
Het |
Marchf4 |
T |
C |
1: 72,468,076 (GRCm39) |
T319A |
probably benign |
Het |
Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
Nt5e |
T |
C |
9: 88,251,108 (GRCm39) |
V459A |
probably damaging |
Het |
Ogdhl |
A |
G |
14: 32,054,822 (GRCm39) |
K257E |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2g25 |
A |
G |
17: 37,970,630 (GRCm39) |
L198P |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,866,540 (GRCm39) |
V378D |
probably damaging |
Het |
Pdzd7 |
G |
T |
19: 45,025,310 (GRCm39) |
T395K |
probably damaging |
Het |
Rasgef1c |
A |
G |
11: 49,847,970 (GRCm39) |
D35G |
probably benign |
Het |
Rbm19 |
T |
C |
5: 120,279,642 (GRCm39) |
F770L |
probably damaging |
Het |
Rit2 |
C |
A |
18: 31,108,514 (GRCm39) |
C157F |
probably damaging |
Het |
Slc22a22 |
A |
G |
15: 57,119,869 (GRCm39) |
|
probably null |
Het |
Slc8b1 |
T |
C |
5: 120,651,403 (GRCm39) |
|
probably null |
Het |
Speer2 |
C |
A |
16: 69,655,783 (GRCm39) |
R14S |
possibly damaging |
Het |
Tas2r105 |
C |
A |
6: 131,663,836 (GRCm39) |
L197F |
possibly damaging |
Het |
Tmprss11b |
T |
A |
5: 86,812,957 (GRCm39) |
H113L |
possibly damaging |
Het |
Ttbk2 |
G |
A |
2: 120,653,040 (GRCm39) |
P64S |
probably damaging |
Het |
Urb1 |
A |
T |
16: 90,601,425 (GRCm39) |
H115Q |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,889,777 (GRCm39) |
|
probably benign |
Het |
Zbtb39 |
T |
A |
10: 127,577,429 (GRCm39) |
M1K |
probably null |
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 |
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'- TCACTGCACTTGATGGTGG -3'
(R):5'- TCAGGGGCGTTGTCATTAAC -3'
Sequencing Primer
(F):5'- GGGACAGCCACTATACATATTCTGG -3'
(R):5'- CGTTGTCATTAACGTCTAAAACCCG -3'
|
Posted On |
2016-12-15 |