Incidental Mutation 'R9020:Pcdhb8'
| ID |
686695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb8
|
| Ensembl Gene |
ENSMUSG00000045876 |
| Gene Name |
protocadherin beta 8 |
| Synonyms |
PcdhbH, Pcdhb5C |
| MMRRC Submission |
068850-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R9020 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37488324-37490663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 37489837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 505
(I505S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051163]
[ENSMUST00000115661]
[ENSMUST00000192867]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XZ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051163
AA Change: I505S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: I505S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
30 |
112 |
6.6e-33 |
PFAM |
|
CA
|
155 |
240 |
7.79e-22 |
SMART |
|
CA
|
264 |
344 |
3.02e-28 |
SMART |
|
CA
|
367 |
448 |
1.14e-23 |
SMART |
|
CA
|
472 |
558 |
9.51e-26 |
SMART |
|
CA
|
588 |
669 |
5.65e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
1.1e-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: ENSMUST00000192867
|
| SMART Domains |
Protein: ENSMUSP00000141814
Gene: ENSMUSG00000045876
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
26 |
104 |
7e-18 |
SMART |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
A |
G |
4: 106,605,615 (GRCm39) |
S586P |
probably damaging |
Het |
| Adora3 |
T |
A |
3: 105,815,141 (GRCm39) |
I297N |
probably damaging |
Het |
| Adrb3 |
A |
T |
8: 27,717,947 (GRCm39) |
F167L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,063,999 (GRCm39) |
Y3955C |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,046,135 (GRCm39) |
D963G |
probably benign |
Het |
| Btbd10 |
T |
C |
7: 112,951,057 (GRCm39) |
N11S |
possibly damaging |
Het |
| Casr |
A |
G |
16: 36,315,611 (GRCm39) |
S820P |
probably damaging |
Het |
| Ccdc82 |
C |
T |
9: 13,281,915 (GRCm39) |
R447C |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,257,522 (GRCm39) |
V1019E |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,959,552 (GRCm39) |
E866G |
probably damaging |
Het |
| Chd4 |
T |
A |
6: 125,084,469 (GRCm39) |
D713E |
probably damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,434,676 (GRCm39) |
F240S |
possibly damaging |
Het |
| Cyp26b1 |
C |
T |
6: 84,552,056 (GRCm39) |
V361I |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,712,787 (GRCm39) |
I1597N |
possibly damaging |
Het |
| Dnajc25 |
C |
A |
4: 59,003,470 (GRCm39) |
Y80* |
probably null |
Het |
| Fbxo17 |
A |
T |
7: 28,436,782 (GRCm39) |
N246Y |
possibly damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,058 (GRCm39) |
T549A |
probably benign |
Het |
| Gm9758 |
A |
C |
5: 14,964,739 (GRCm39) |
N35K |
|
Het |
| Gtf2i |
T |
C |
5: 134,275,415 (GRCm39) |
T707A |
probably benign |
Het |
| Ifnk |
T |
C |
4: 35,152,573 (GRCm39) |
V167A |
probably damaging |
Het |
| Iqch |
T |
C |
9: 63,432,526 (GRCm39) |
M290V |
probably benign |
Het |
| Irx1 |
A |
T |
13: 72,111,548 (GRCm39) |
Y20* |
probably null |
Het |
| Jade2 |
T |
A |
11: 51,708,454 (GRCm39) |
Q572L |
probably benign |
Het |
| Kcne4 |
T |
A |
1: 78,795,425 (GRCm39) |
H24Q |
probably benign |
Het |
| Kcnq5 |
T |
C |
1: 21,539,463 (GRCm39) |
|
probably benign |
Het |
| Kcnt2 |
T |
A |
1: 140,512,049 (GRCm39) |
V1068E |
probably benign |
Het |
| Klk1b27 |
T |
A |
7: 43,705,118 (GRCm39) |
V95D |
probably damaging |
Het |
| Lins1 |
A |
G |
7: 66,357,961 (GRCm39) |
D32G |
probably damaging |
Het |
| Mavs |
A |
G |
2: 131,088,594 (GRCm39) |
E466G |
possibly damaging |
Het |
| Mipep |
T |
A |
14: 61,068,677 (GRCm39) |
L483* |
probably null |
Het |
| Muc16 |
G |
GAATGGCTTTCTT |
9: 18,550,015 (GRCm39) |
|
probably benign |
Het |
| Myo1a |
C |
A |
10: 127,549,992 (GRCm39) |
Q491K |
probably benign |
Het |
| Nle1 |
C |
G |
11: 82,797,275 (GRCm39) |
E146Q |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,909,150 (GRCm39) |
Y787H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,481,443 (GRCm39) |
S263G |
probably benign |
Het |
| Phtf1 |
C |
G |
3: 103,898,694 (GRCm39) |
S339* |
probably null |
Het |
| Pip5k1b |
T |
A |
19: 24,327,585 (GRCm39) |
I424F |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,211,497 (GRCm39) |
T681S |
possibly damaging |
Het |
| Prdm1 |
A |
G |
10: 44,316,036 (GRCm39) |
L700P |
probably damaging |
Het |
| Prtg |
C |
T |
9: 72,799,277 (GRCm39) |
T769I |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,165,146 (GRCm39) |
V340A |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,023 (GRCm39) |
E548D |
probably benign |
Het |
| Rsph10b |
G |
A |
5: 143,922,283 (GRCm39) |
R823Q |
probably benign |
Het |
| Scgb1b3 |
A |
G |
7: 31,075,276 (GRCm39) |
E42G |
probably damaging |
Het |
| Scyl2 |
T |
C |
10: 89,488,858 (GRCm39) |
N486D |
probably damaging |
Het |
| Sdr9c7 |
T |
A |
10: 127,745,659 (GRCm39) |
I257N |
possibly damaging |
Het |
| Serpinb9b |
A |
T |
13: 33,223,887 (GRCm39) |
I360F |
probably damaging |
Het |
| Slc15a5 |
T |
A |
6: 138,032,704 (GRCm39) |
I217F |
probably benign |
Het |
| Steap2 |
T |
C |
5: 5,723,480 (GRCm39) |
S467G |
probably benign |
Het |
| Sycp1 |
T |
C |
3: 102,783,653 (GRCm39) |
K607R |
probably benign |
Het |
| Tek |
C |
G |
4: 94,708,339 (GRCm39) |
P350R |
probably benign |
Het |
| Tet3 |
T |
C |
6: 83,381,418 (GRCm39) |
D250G |
probably damaging |
Het |
| Trip11 |
A |
G |
12: 101,850,770 (GRCm39) |
V1098A |
possibly damaging |
Het |
| Tsc2 |
G |
T |
17: 24,845,691 (GRCm39) |
T209K |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,752,366 (GRCm39) |
Y1424C |
probably damaging |
Het |
| Uchl3 |
A |
T |
14: 101,903,986 (GRCm39) |
K74N |
probably damaging |
Het |
| Usp10 |
T |
G |
8: 120,667,904 (GRCm39) |
S68R |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,650,282 (GRCm39) |
I295V |
probably benign |
Het |
|
| Other mutations in Pcdhb8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Pcdhb8
|
APN |
18 |
37,488,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00574:Pcdhb8
|
APN |
18 |
37,489,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00960:Pcdhb8
|
APN |
18 |
37,489,026 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01103:Pcdhb8
|
APN |
18 |
37,490,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01330:Pcdhb8
|
APN |
18 |
37,490,631 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01413:Pcdhb8
|
APN |
18 |
37,489,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01418:Pcdhb8
|
APN |
18 |
37,489,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Pcdhb8
|
APN |
18 |
37,489,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02212:Pcdhb8
|
APN |
18 |
37,489,465 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02582:Pcdhb8
|
APN |
18 |
37,488,427 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02607:Pcdhb8
|
APN |
18 |
37,490,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02882:Pcdhb8
|
APN |
18 |
37,489,276 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03005:Pcdhb8
|
APN |
18 |
37,490,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03108:Pcdhb8
|
APN |
18 |
37,490,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Pcdhb8
|
UTSW |
18 |
37,489,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0104:Pcdhb8
|
UTSW |
18 |
37,488,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0490:Pcdhb8
|
UTSW |
18 |
37,489,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Pcdhb8
|
UTSW |
18 |
37,490,100 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1168:Pcdhb8
|
UTSW |
18 |
37,489,780 (GRCm39) |
missense |
probably benign |
|
|
R1189:Pcdhb8
|
UTSW |
18 |
37,489,620 (GRCm39) |
nonsense |
probably null |
|
|
R1232:Pcdhb8
|
UTSW |
18 |
37,488,828 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1503:Pcdhb8
|
UTSW |
18 |
37,489,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1576:Pcdhb8
|
UTSW |
18 |
37,489,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Pcdhb8
|
UTSW |
18 |
37,488,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Pcdhb8
|
UTSW |
18 |
37,489,015 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1909:Pcdhb8
|
UTSW |
18 |
37,489,015 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2215:Pcdhb8
|
UTSW |
18 |
37,490,127 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3080:Pcdhb8
|
UTSW |
18 |
37,489,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Pcdhb8
|
UTSW |
18 |
37,489,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Pcdhb8
|
UTSW |
18 |
37,488,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4845:Pcdhb8
|
UTSW |
18 |
37,489,771 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4879:Pcdhb8
|
UTSW |
18 |
37,489,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Pcdhb8
|
UTSW |
18 |
37,489,059 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5086:Pcdhb8
|
UTSW |
18 |
37,489,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Pcdhb8
|
UTSW |
18 |
37,490,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Pcdhb8
|
UTSW |
18 |
37,489,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5898:Pcdhb8
|
UTSW |
18 |
37,490,537 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5935:Pcdhb8
|
UTSW |
18 |
37,489,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Pcdhb8
|
UTSW |
18 |
37,489,279 (GRCm39) |
missense |
probably benign |
|
|
R6228:Pcdhb8
|
UTSW |
18 |
37,490,037 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6245:Pcdhb8
|
UTSW |
18 |
37,490,222 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6397:Pcdhb8
|
UTSW |
18 |
37,488,516 (GRCm39) |
nonsense |
probably null |
|
|
R7469:Pcdhb8
|
UTSW |
18 |
37,489,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Pcdhb8
|
UTSW |
18 |
37,488,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8323:Pcdhb8
|
UTSW |
18 |
37,488,476 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8735:Pcdhb8
|
UTSW |
18 |
37,489,975 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8841:Pcdhb8
|
UTSW |
18 |
37,488,699 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8856:Pcdhb8
|
UTSW |
18 |
37,489,776 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9055:Pcdhb8
|
UTSW |
18 |
37,490,585 (GRCm39) |
nonsense |
probably null |
|
|
R9077:Pcdhb8
|
UTSW |
18 |
37,489,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9387:Pcdhb8
|
UTSW |
18 |
37,488,751 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAACGATAATGCTCCTGCCTTC -3'
(R):5'- CTTGGTGATCAGGTAGCCAG -3'
Sequencing Primer
(F):5'- GATAATGCTCCTGCCTTCACTCAAAC -3'
(R):5'- TGATCAGGTAGCCAGGCTCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation