Incidental Mutation 'R5647:Pcdhb18'
| ID |
441247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb18
|
| Ensembl Gene |
ENSMUSG00000048347 |
| Gene Name |
protocadherin beta 18 |
| Synonyms |
Pcdhb9, PcdhbR |
| MMRRC Submission |
043295-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R5647 (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 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: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
95% (55/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010L04Rik |
T |
C |
7: 82,505,606 (GRCm39) |
|
noncoding transcript |
Het |
| 9330159F19Rik |
A |
T |
10: 29,101,250 (GRCm39) |
D541V |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,218,597 (GRCm39) |
I262V |
probably damaging |
Het |
| Acvr1c |
T |
A |
2: 58,185,976 (GRCm39) |
D169V |
probably damaging |
Het |
| Aldh16a1 |
A |
G |
7: 44,803,889 (GRCm39) |
V6A |
probably benign |
Het |
| Brd10 |
A |
G |
19: 29,731,210 (GRCm39) |
S601P |
possibly damaging |
Het |
| Cd36 |
A |
C |
5: 18,019,763 (GRCm39) |
S113A |
probably damaging |
Het |
| Cdt1 |
G |
T |
8: 123,296,947 (GRCm39) |
R247L |
possibly damaging |
Het |
| Ces4a |
G |
A |
8: 105,872,712 (GRCm39) |
V322M |
probably benign |
Het |
| Cngb3 |
A |
T |
4: 19,364,266 (GRCm39) |
T157S |
possibly damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,010 (GRCm39) |
|
probably benign |
Het |
| Ctr9 |
G |
T |
7: 110,654,751 (GRCm39) |
R1094L |
unknown |
Het |
| Cyld |
A |
T |
8: 89,461,554 (GRCm39) |
I664L |
probably benign |
Het |
| Dvl2 |
C |
T |
11: 69,900,275 (GRCm39) |
P690S |
possibly damaging |
Het |
| Fbxo7 |
A |
C |
10: 85,864,974 (GRCm39) |
E94D |
probably damaging |
Het |
| Fstl5 |
A |
C |
3: 76,496,399 (GRCm39) |
K387N |
probably damaging |
Het |
| Gm9845 |
A |
C |
3: 39,412,520 (GRCm39) |
|
noncoding transcript |
Het |
| Hk1 |
T |
C |
10: 62,111,523 (GRCm39) |
D746G |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,468,391 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,350,258 (GRCm39) |
A705T |
probably null |
Het |
| Lrrc37 |
T |
C |
11: 103,508,300 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,952,067 (GRCm39) |
|
probably null |
Het |
| Myo15b |
T |
A |
11: 115,762,337 (GRCm39) |
L1219Q |
probably damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Or4g16 |
G |
T |
2: 111,137,392 (GRCm39) |
A281S |
possibly damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,553 (GRCm39) |
I32N |
probably damaging |
Het |
| Or5b113 |
T |
C |
19: 13,342,541 (GRCm39) |
V183A |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,221,675 (GRCm39) |
T1984A |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,593,588 (GRCm39) |
L251P |
probably benign |
Het |
| Plin1 |
T |
A |
7: 79,371,320 (GRCm39) |
D468V |
probably benign |
Het |
| Pmp2 |
A |
G |
3: 10,248,845 (GRCm39) |
V12A |
probably benign |
Het |
| Rnf19a |
T |
A |
15: 36,266,109 (GRCm39) |
|
probably benign |
Het |
| Rnf214 |
G |
A |
9: 45,779,344 (GRCm39) |
Q469* |
probably null |
Het |
| Rrp1b |
T |
G |
17: 32,274,985 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
| Sema3e |
A |
T |
5: 14,275,567 (GRCm39) |
E224V |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,385,720 (GRCm39) |
S5P |
probably damaging |
Het |
| Stab1 |
A |
C |
14: 30,879,397 (GRCm39) |
Y694* |
probably null |
Het |
| Stambpl1 |
T |
C |
19: 34,211,686 (GRCm39) |
L249P |
probably benign |
Het |
| Thap4 |
A |
T |
1: 93,642,665 (GRCm39) |
H515Q |
probably damaging |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Uaca |
A |
G |
9: 60,779,380 (GRCm39) |
R1256G |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,489,881 (GRCm39) |
N348Y |
possibly damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,822,314 (GRCm39) |
I85T |
probably benign |
Het |
| Vps9d1 |
A |
T |
8: 123,975,598 (GRCm39) |
L149Q |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,809,694 (GRCm39) |
I153N |
probably damaging |
Het |
| Zfp207 |
G |
A |
11: 80,283,959 (GRCm39) |
S293N |
possibly damaging |
Het |
| Zfp346 |
A |
G |
13: 55,270,170 (GRCm39) |
D198G |
probably damaging |
Het |
| Zfp953 |
A |
T |
13: 67,491,536 (GRCm39) |
C139S |
possibly 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 |
|
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'- TCACTGCACTTGATGGTGG -3'
(R):5'- GTTCAGGGGCGTTGTCATTAAC -3'
Sequencing Primer
(F):5'- GGGACAGCCACTATACATATTCTGG -3'
(R):5'- CGTTGTCATTAACGTCTAAAACCCG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation