Incidental Mutation 'IGL02063:Pcdhb9'
ID |
185503 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pcdhb9
|
Ensembl Gene |
ENSMUSG00000051242 |
Gene Name |
protocadherin beta 9 |
Synonyms |
Pcdhb4C, PcdhbI |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
IGL02063
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37534810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 268
(M268K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058801
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057228]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
E9Q5G2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057228
AA Change: M268K
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000058801 Gene: ENSMUSG00000051242 AA Change: M268K
Domain | Start | End | E-Value | Type |
Pfam:Cadherin_2
|
65 |
147 |
2.3e-33 |
PFAM |
CA
|
190 |
275 |
1.28e-17 |
SMART |
CA
|
299 |
380 |
7.6e-25 |
SMART |
CA
|
403 |
484 |
5.81e-21 |
SMART |
CA
|
508 |
594 |
9.8e-28 |
SMART |
CA
|
624 |
705 |
1.86e-10 |
SMART |
Pfam:Cadherin_C_2
|
722 |
805 |
2.3e-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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg2b |
A |
G |
12: 105,614,581 (GRCm39) |
Y1117H |
possibly damaging |
Het |
B020004C17Rik |
A |
G |
14: 57,253,480 (GRCm39) |
R24G |
probably damaging |
Het |
BC005624 |
A |
G |
2: 30,868,946 (GRCm39) |
M76T |
probably benign |
Het |
Blm |
G |
T |
7: 80,159,167 (GRCm39) |
S323* |
probably null |
Het |
Card19 |
C |
A |
13: 49,356,607 (GRCm39) |
G181* |
probably null |
Het |
Cilp2 |
T |
C |
8: 70,335,515 (GRCm39) |
I494M |
probably damaging |
Het |
Col5a2 |
A |
G |
1: 45,442,579 (GRCm39) |
|
probably null |
Het |
Col6a4 |
T |
C |
9: 105,934,617 (GRCm39) |
D1431G |
probably benign |
Het |
Cped1 |
G |
A |
6: 22,138,701 (GRCm39) |
C560Y |
probably damaging |
Het |
Cyfip1 |
T |
C |
7: 55,576,096 (GRCm39) |
S1091P |
probably damaging |
Het |
Ddx24 |
A |
G |
12: 103,384,461 (GRCm39) |
I466T |
probably damaging |
Het |
Dlg2 |
T |
A |
7: 91,459,684 (GRCm39) |
|
probably benign |
Het |
Esf1 |
C |
A |
2: 140,006,377 (GRCm39) |
D257Y |
possibly damaging |
Het |
Fgfr2 |
A |
G |
7: 129,769,485 (GRCm39) |
F634S |
probably damaging |
Het |
Flywch2 |
A |
G |
17: 23,996,081 (GRCm39) |
|
probably benign |
Het |
Gbp10 |
A |
T |
5: 105,383,906 (GRCm39) |
I32N |
possibly damaging |
Het |
Gli3 |
A |
G |
13: 15,900,957 (GRCm39) |
D1448G |
possibly damaging |
Het |
Gm10335 |
T |
C |
10: 14,399,147 (GRCm39) |
|
probably benign |
Het |
Golga5 |
A |
T |
12: 102,438,418 (GRCm39) |
E44D |
probably benign |
Het |
H2-M10.1 |
C |
T |
17: 36,634,901 (GRCm39) |
|
probably benign |
Het |
Ino80b |
A |
T |
6: 83,101,143 (GRCm39) |
D141E |
probably damaging |
Het |
Itpr3 |
A |
G |
17: 27,338,997 (GRCm39) |
I2593V |
probably benign |
Het |
Krt73 |
C |
T |
15: 101,704,204 (GRCm39) |
|
probably benign |
Het |
Loxl4 |
G |
T |
19: 42,596,778 (GRCm39) |
L78I |
probably benign |
Het |
Mbd5 |
A |
T |
2: 49,164,779 (GRCm39) |
N360I |
probably damaging |
Het |
Nfat5 |
A |
T |
8: 108,088,450 (GRCm39) |
M495L |
probably benign |
Het |
Nrxn3 |
A |
T |
12: 88,762,565 (GRCm39) |
E204V |
possibly damaging |
Het |
Or8k21 |
G |
T |
2: 86,145,137 (GRCm39) |
F164L |
possibly damaging |
Het |
Paqr4 |
A |
T |
17: 23,958,886 (GRCm39) |
C38* |
probably null |
Het |
Pcdhb13 |
T |
A |
18: 37,577,282 (GRCm39) |
N553K |
probably damaging |
Het |
Pdap1 |
A |
T |
5: 145,071,869 (GRCm39) |
|
probably benign |
Het |
Phf2 |
A |
T |
13: 48,975,118 (GRCm39) |
Y281N |
unknown |
Het |
Phka2 |
T |
A |
X: 159,347,209 (GRCm39) |
I664N |
possibly damaging |
Het |
Plekha7 |
A |
T |
7: 115,739,936 (GRCm39) |
D762E |
possibly damaging |
Het |
Plekhg4 |
T |
A |
8: 106,105,884 (GRCm39) |
|
probably benign |
Het |
Ppfia2 |
A |
T |
10: 106,740,706 (GRCm39) |
Q1006L |
probably null |
Het |
Pramel12 |
C |
A |
4: 143,144,421 (GRCm39) |
Q256K |
probably benign |
Het |
Prmt5 |
G |
A |
14: 54,748,477 (GRCm39) |
Q197* |
probably null |
Het |
Prodh |
A |
T |
16: 17,897,049 (GRCm39) |
|
probably null |
Het |
Ptgr3 |
T |
A |
18: 84,113,390 (GRCm39) |
Y355* |
probably null |
Het |
Rnft2 |
A |
G |
5: 118,380,587 (GRCm39) |
|
probably benign |
Het |
Rp1l1 |
G |
T |
14: 64,266,985 (GRCm39) |
S857I |
probably damaging |
Het |
Samd9l |
A |
G |
6: 3,372,992 (GRCm39) |
F1423S |
probably damaging |
Het |
Scn3a |
A |
G |
2: 65,291,854 (GRCm39) |
Y1631H |
probably damaging |
Het |
Slc22a5 |
A |
T |
11: 53,765,899 (GRCm39) |
I229K |
probably damaging |
Het |
Slco1a7 |
T |
C |
6: 141,684,615 (GRCm39) |
D280G |
probably benign |
Het |
Snd1 |
T |
A |
6: 28,526,220 (GRCm39) |
|
probably benign |
Het |
Srrm1 |
G |
T |
4: 135,074,518 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
C |
12: 76,098,874 (GRCm39) |
V5252A |
probably damaging |
Het |
Tek |
A |
G |
4: 94,627,882 (GRCm39) |
D2G |
probably benign |
Het |
Uba1 |
T |
C |
X: 20,545,964 (GRCm39) |
S803P |
probably damaging |
Het |
Uggt2 |
A |
G |
14: 119,326,605 (GRCm39) |
I202T |
possibly damaging |
Het |
Umodl1 |
A |
T |
17: 31,206,888 (GRCm39) |
I760F |
probably benign |
Het |
Vgll1 |
A |
G |
X: 56,144,569 (GRCm39) |
|
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,676,276 (GRCm39) |
V347A |
probably benign |
Het |
Zswim9 |
T |
C |
7: 12,994,608 (GRCm39) |
E516G |
probably damaging |
Het |
|
Other mutations in Pcdhb9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00157:Pcdhb9
|
APN |
18 |
37,536,332 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL01557:Pcdhb9
|
APN |
18 |
37,536,100 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01716:Pcdhb9
|
APN |
18 |
37,536,228 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01954:Pcdhb9
|
APN |
18 |
37,534,794 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03057:Pcdhb9
|
APN |
18 |
37,534,330 (GRCm39) |
missense |
probably benign |
0.00 |
R0140:Pcdhb9
|
UTSW |
18 |
37,536,014 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0180:Pcdhb9
|
UTSW |
18 |
37,535,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R0349:Pcdhb9
|
UTSW |
18 |
37,535,632 (GRCm39) |
missense |
probably damaging |
0.99 |
R0616:Pcdhb9
|
UTSW |
18 |
37,535,028 (GRCm39) |
nonsense |
probably null |
|
R0669:Pcdhb9
|
UTSW |
18 |
37,535,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R1256:Pcdhb9
|
UTSW |
18 |
37,536,169 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1642:Pcdhb9
|
UTSW |
18 |
37,533,987 (GRCm39) |
intron |
probably benign |
|
R1678:Pcdhb9
|
UTSW |
18 |
37,534,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R1711:Pcdhb9
|
UTSW |
18 |
37,536,380 (GRCm39) |
nonsense |
probably null |
|
R1762:Pcdhb9
|
UTSW |
18 |
37,536,136 (GRCm39) |
missense |
probably benign |
0.00 |
R1823:Pcdhb9
|
UTSW |
18 |
37,535,871 (GRCm39) |
missense |
probably benign |
0.14 |
R1868:Pcdhb9
|
UTSW |
18 |
37,535,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Pcdhb9
|
UTSW |
18 |
37,536,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R2446:Pcdhb9
|
UTSW |
18 |
37,536,340 (GRCm39) |
missense |
probably damaging |
0.99 |
R2889:Pcdhb9
|
UTSW |
18 |
37,536,276 (GRCm39) |
missense |
probably benign |
0.06 |
R2890:Pcdhb9
|
UTSW |
18 |
37,536,379 (GRCm39) |
missense |
probably benign |
0.23 |
R3196:Pcdhb9
|
UTSW |
18 |
37,534,663 (GRCm39) |
missense |
probably benign |
0.02 |
R3725:Pcdhb9
|
UTSW |
18 |
37,534,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3726:Pcdhb9
|
UTSW |
18 |
37,534,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4179:Pcdhb9
|
UTSW |
18 |
37,534,168 (GRCm39) |
missense |
probably benign |
0.17 |
R4326:Pcdhb9
|
UTSW |
18 |
37,534,876 (GRCm39) |
missense |
probably benign |
0.15 |
R4326:Pcdhb9
|
UTSW |
18 |
37,534,875 (GRCm39) |
missense |
probably benign |
0.04 |
R4327:Pcdhb9
|
UTSW |
18 |
37,534,876 (GRCm39) |
missense |
probably benign |
0.15 |
R4327:Pcdhb9
|
UTSW |
18 |
37,534,875 (GRCm39) |
missense |
probably benign |
0.04 |
R4329:Pcdhb9
|
UTSW |
18 |
37,534,876 (GRCm39) |
missense |
probably benign |
0.15 |
R4329:Pcdhb9
|
UTSW |
18 |
37,534,875 (GRCm39) |
missense |
probably benign |
0.04 |
R4626:Pcdhb9
|
UTSW |
18 |
37,535,302 (GRCm39) |
missense |
probably benign |
0.01 |
R4738:Pcdhb9
|
UTSW |
18 |
37,536,468 (GRCm39) |
missense |
probably benign |
0.33 |
R4888:Pcdhb9
|
UTSW |
18 |
37,536,286 (GRCm39) |
missense |
probably benign |
0.22 |
R5140:Pcdhb9
|
UTSW |
18 |
37,534,186 (GRCm39) |
missense |
probably benign |
0.00 |
R5186:Pcdhb9
|
UTSW |
18 |
37,534,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R5502:Pcdhb9
|
UTSW |
18 |
37,534,656 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5586:Pcdhb9
|
UTSW |
18 |
37,534,167 (GRCm39) |
missense |
probably benign |
|
R5601:Pcdhb9
|
UTSW |
18 |
37,535,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R5624:Pcdhb9
|
UTSW |
18 |
37,534,459 (GRCm39) |
missense |
probably benign |
|
R5827:Pcdhb9
|
UTSW |
18 |
37,535,011 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5829:Pcdhb9
|
UTSW |
18 |
37,534,942 (GRCm39) |
missense |
probably damaging |
0.97 |
R5837:Pcdhb9
|
UTSW |
18 |
37,535,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R6147:Pcdhb9
|
UTSW |
18 |
37,535,494 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6228:Pcdhb9
|
UTSW |
18 |
37,535,115 (GRCm39) |
missense |
probably benign |
0.00 |
R6245:Pcdhb9
|
UTSW |
18 |
37,536,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R6304:Pcdhb9
|
UTSW |
18 |
37,534,420 (GRCm39) |
missense |
probably damaging |
0.99 |
R6542:Pcdhb9
|
UTSW |
18 |
37,534,642 (GRCm39) |
missense |
probably damaging |
0.99 |
R6904:Pcdhb9
|
UTSW |
18 |
37,534,970 (GRCm39) |
missense |
probably benign |
0.01 |
R7058:Pcdhb9
|
UTSW |
18 |
37,536,334 (GRCm39) |
missense |
probably benign |
0.35 |
R7159:Pcdhb9
|
UTSW |
18 |
37,534,545 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7258:Pcdhb9
|
UTSW |
18 |
37,535,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R7800:Pcdhb9
|
UTSW |
18 |
37,534,602 (GRCm39) |
missense |
probably benign |
0.01 |
R8027:Pcdhb9
|
UTSW |
18 |
37,536,069 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8141:Pcdhb9
|
UTSW |
18 |
37,535,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R8157:Pcdhb9
|
UTSW |
18 |
37,536,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R8729:Pcdhb9
|
UTSW |
18 |
37,535,639 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8748:Pcdhb9
|
UTSW |
18 |
37,535,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R8833:Pcdhb9
|
UTSW |
18 |
37,534,468 (GRCm39) |
missense |
probably benign |
|
R9083:Pcdhb9
|
UTSW |
18 |
37,535,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R9562:Pcdhb9
|
UTSW |
18 |
37,534,665 (GRCm39) |
missense |
probably benign |
|
R9779:Pcdhb9
|
UTSW |
18 |
37,535,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-05-07 |