Incidental Mutation 'R7670:Pcdhb18'
| ID |
592134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb18
|
| Ensembl Gene |
ENSMUSG00000048347 |
| Gene Name |
protocadherin beta 18 |
| Synonyms |
Pcdhb9, PcdhbR |
| MMRRC Submission |
045742-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
R7670 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37622524-37627558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37624749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 693
(V693A)
|
| 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: V693A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
AA Change: V693A
| 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 |
0.2437 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
A |
8: 44,023,190 (GRCm39) |
H100L |
probably benign |
Het |
| Adgrf2 |
T |
C |
17: 43,022,263 (GRCm39) |
N187S |
probably damaging |
Het |
| Adipoq |
T |
A |
16: 22,976,332 (GRCm39) |
H244Q |
probably damaging |
Het |
| Arhgap40 |
T |
A |
2: 158,373,845 (GRCm39) |
S209T |
probably benign |
Het |
| Arrdc3 |
C |
T |
13: 81,037,212 (GRCm39) |
L123F |
probably damaging |
Het |
| Aspscr1 |
A |
G |
11: 120,579,865 (GRCm39) |
N212D |
probably benign |
Het |
| Ccr9 |
A |
T |
9: 123,608,371 (GRCm39) |
S18C |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,892,646 (GRCm39) |
V270D |
probably damaging |
Het |
| Clic4 |
A |
G |
4: 134,944,516 (GRCm39) |
Y220H |
probably damaging |
Het |
| Cntln |
A |
C |
4: 84,897,577 (GRCm39) |
H388P |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,538,925 (GRCm39) |
V2457A |
probably damaging |
Het |
| Ctsk |
A |
G |
3: 95,408,925 (GRCm39) |
N103D |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,428,826 (GRCm39) |
S779P |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,246,378 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,148,462 (GRCm39) |
D279E |
probably benign |
Het |
| Eif1ad10 |
T |
C |
12: 88,216,524 (GRCm39) |
N116S |
probably benign |
Het |
| Fam117a |
A |
G |
11: 95,269,660 (GRCm39) |
N308S |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,704,245 (GRCm39) |
V1419A |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,678,802 (GRCm39) |
S625P |
probably benign |
Het |
| Gemin5 |
A |
G |
11: 58,038,754 (GRCm39) |
V585A |
probably benign |
Het |
| Gm5145 |
C |
A |
17: 20,790,646 (GRCm39) |
P8Q |
probably benign |
Het |
| Herc1 |
C |
A |
9: 66,323,629 (GRCm39) |
T1381K |
probably damaging |
Het |
| Herc6 |
T |
C |
6: 57,637,107 (GRCm39) |
I824T |
probably damaging |
Het |
| Klrb1 |
C |
T |
6: 128,687,050 (GRCm39) |
V161I |
probably benign |
Het |
| Krtap31-1 |
A |
G |
11: 99,799,258 (GRCm39) |
N154D |
not run |
Het |
| Lcp1 |
A |
T |
14: 75,437,871 (GRCm39) |
I94F |
probably benign |
Het |
| Lin7a |
A |
T |
10: 107,218,552 (GRCm39) |
Q154L |
possibly damaging |
Het |
| Lnx1 |
T |
C |
5: 74,846,351 (GRCm39) |
Y33C |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,834,517 (GRCm39) |
V859A |
probably benign |
Het |
| Ncbp1 |
A |
G |
4: 46,170,015 (GRCm39) |
Q696R |
probably damaging |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Nme8 |
T |
C |
13: 19,842,999 (GRCm39) |
E392G |
probably benign |
Het |
| Nufip1 |
CAAAACAGAAAACAGAAAAC |
CAAAACAGAAAACAGAAAACAGAAAAC |
14: 76,349,414 (GRCm39) |
|
probably null |
Het |
| Nuggc |
A |
G |
14: 65,850,975 (GRCm39) |
I298V |
probably damaging |
Het |
| Nup155 |
A |
C |
15: 8,183,180 (GRCm39) |
K1247Q |
probably damaging |
Het |
| Or1a1 |
A |
G |
11: 74,087,033 (GRCm39) |
K235E |
probably damaging |
Het |
| Or5c1 |
A |
T |
2: 37,221,771 (GRCm39) |
E4V |
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,382,493 (GRCm39) |
|
probably null |
Het |
| Pacc1 |
A |
G |
1: 191,073,065 (GRCm39) |
N162S |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,727,210 (GRCm39) |
F1108L |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,905,170 (GRCm39) |
N189K |
probably damaging |
Het |
| Rbm24 |
A |
G |
13: 46,582,683 (GRCm39) |
I201V |
probably benign |
Het |
| Reep6 |
T |
C |
10: 80,169,627 (GRCm39) |
L105P |
probably damaging |
Het |
| Retreg1 |
T |
C |
15: 25,941,126 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
C |
T |
10: 39,712,718 (GRCm39) |
T2382I |
probably benign |
Het |
| Rnf31 |
A |
G |
14: 55,831,818 (GRCm39) |
N230S |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,115,548 (GRCm39) |
L969P |
probably benign |
Het |
| Rsph4a |
T |
A |
10: 33,785,029 (GRCm39) |
N313K |
probably damaging |
Het |
| Serpina3f |
T |
A |
12: 104,183,525 (GRCm39) |
L129Q |
probably damaging |
Het |
| Slc9a2 |
T |
A |
1: 40,758,157 (GRCm39) |
V232D |
probably damaging |
Het |
| Stmn2 |
T |
C |
3: 8,619,925 (GRCm39) |
L121P |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,097,424 (GRCm39) |
G1373D |
probably damaging |
Het |
| Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
| Tns1 |
C |
A |
1: 73,991,636 (GRCm39) |
R1014L |
possibly damaging |
Het |
| Top2b |
T |
C |
14: 16,416,620 (GRCm38) |
S1127P |
possibly damaging |
Het |
| Txndc16 |
A |
T |
14: 45,373,324 (GRCm39) |
C768* |
probably null |
Het |
| Ubl7 |
A |
T |
9: 57,837,052 (GRCm39) |
E354D |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,516,905 (GRCm39) |
L3205P |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,340,917 (GRCm39) |
T1053A |
possibly damaging |
Het |
| Zbtb21 |
A |
G |
16: 97,753,077 (GRCm39) |
L402P |
probably damaging |
Het |
| Zfp27 |
T |
A |
7: 29,594,221 (GRCm39) |
K581N |
possibly damaging |
Het |
| Zfp62 |
A |
T |
11: 49,105,903 (GRCm39) |
|
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 |
|
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 |
|
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'- TCATTCCAGCTACTCAAGGC -3'
(R):5'- CACCTCATATTGGTAGTTCTGGG -3'
Sequencing Primer
(F):5'- TCACAATGGCGAGGTGC -3'
(R):5'- TGGGACAGTGTTCCTGTA -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation