Incidental Mutation 'R6904:Pcdhb9'
ID |
538713 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb9
|
Ensembl Gene |
ENSMUSG00000051242 |
Gene Name |
protocadherin beta 9 |
Synonyms |
Pcdhb4C, PcdhbI |
MMRRC Submission |
045033-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R6904 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37534970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 321
(D321E)
|
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: D321E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000058801 Gene: ENSMUSG00000051242 AA Change: D321E
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
A |
7: 41,275,516 (GRCm39) |
Y406* |
probably null |
Het |
Acadvl |
T |
C |
11: 69,905,159 (GRCm39) |
D109G |
probably benign |
Het |
Adam24 |
G |
A |
8: 41,134,542 (GRCm39) |
G670E |
probably damaging |
Het |
Angpt1 |
T |
C |
15: 42,323,136 (GRCm39) |
M378V |
probably benign |
Het |
Ankrd33 |
G |
A |
15: 101,014,993 (GRCm39) |
|
probably null |
Het |
Apol7b |
G |
A |
15: 77,307,625 (GRCm39) |
T290I |
probably benign |
Het |
Atg4a-ps |
A |
G |
3: 103,553,180 (GRCm39) |
W54R |
probably damaging |
Het |
B3glct |
A |
G |
5: 149,663,069 (GRCm39) |
|
probably null |
Het |
Bmp7 |
A |
G |
2: 172,714,706 (GRCm39) |
S368P |
probably damaging |
Het |
Boc |
A |
G |
16: 44,312,154 (GRCm39) |
V636A |
probably damaging |
Het |
Cacna1i |
G |
A |
15: 80,259,002 (GRCm39) |
R1237H |
probably damaging |
Het |
Cdcp1 |
T |
C |
9: 123,002,980 (GRCm39) |
D697G |
probably benign |
Het |
Cep85l |
T |
C |
10: 53,225,194 (GRCm39) |
T132A |
probably benign |
Het |
Ces1b |
T |
A |
8: 93,787,038 (GRCm39) |
Y447F |
probably damaging |
Het |
Cfhr4 |
T |
G |
1: 139,659,391 (GRCm39) |
N642H |
possibly damaging |
Het |
Cntn4 |
A |
T |
6: 106,674,544 (GRCm39) |
T1015S |
probably benign |
Het |
Eea1 |
T |
G |
10: 95,838,741 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
Hipk1 |
A |
T |
3: 103,684,828 (GRCm39) |
N262K |
possibly damaging |
Het |
Jmjd8 |
G |
A |
17: 26,048,026 (GRCm39) |
R41H |
possibly damaging |
Het |
Klhl3 |
T |
A |
13: 58,178,259 (GRCm39) |
T344S |
probably damaging |
Het |
Krt39 |
T |
C |
11: 99,410,647 (GRCm39) |
D175G |
probably damaging |
Het |
Map4k1 |
A |
G |
7: 28,686,227 (GRCm39) |
Y81C |
probably damaging |
Het |
Mpdu1 |
T |
A |
11: 69,549,411 (GRCm39) |
T95S |
probably benign |
Het |
Myl12b |
A |
T |
17: 71,284,135 (GRCm39) |
I31N |
probably damaging |
Het |
Ndufaf5 |
T |
A |
2: 140,030,700 (GRCm39) |
Y195* |
probably null |
Het |
Or4c119 |
G |
A |
2: 88,987,157 (GRCm39) |
R121C |
possibly damaging |
Het |
Or4d5 |
T |
C |
9: 40,012,652 (GRCm39) |
I45V |
probably benign |
Het |
Or51v15-ps1 |
A |
T |
7: 103,278,790 (GRCm39) |
F126I |
probably benign |
Het |
Or52z12 |
T |
A |
7: 103,233,727 (GRCm39) |
I166N |
possibly damaging |
Het |
Or5w17 |
A |
G |
2: 87,584,223 (GRCm39) |
V38A |
probably benign |
Het |
Oxgr1 |
T |
A |
14: 120,259,431 (GRCm39) |
I259F |
possibly damaging |
Het |
Pi4kb |
G |
T |
3: 94,900,461 (GRCm39) |
R392L |
probably damaging |
Het |
Pramel18 |
G |
A |
4: 101,767,291 (GRCm39) |
C180Y |
possibly damaging |
Het |
Prss41 |
T |
C |
17: 24,056,622 (GRCm39) |
K151R |
probably benign |
Het |
Rev3l |
T |
A |
10: 39,697,477 (GRCm39) |
V658D |
probably benign |
Het |
Snx4 |
A |
G |
16: 33,115,108 (GRCm39) |
I430V |
probably damaging |
Het |
Tanc2 |
C |
T |
11: 105,726,056 (GRCm39) |
H407Y |
possibly damaging |
Het |
Tcf25 |
G |
A |
8: 124,127,437 (GRCm39) |
|
probably null |
Het |
Tsc22d1 |
A |
T |
14: 76,743,923 (GRCm39) |
K24* |
probably null |
Het |
Vmn2r30 |
A |
G |
7: 7,315,547 (GRCm39) |
F762S |
probably damaging |
Het |
Xrcc6 |
A |
G |
15: 81,913,323 (GRCm39) |
T319A |
probably benign |
Het |
Zbtb1 |
C |
T |
12: 76,432,985 (GRCm39) |
R324* |
probably null |
Het |
Zc3h7a |
A |
G |
16: 10,963,535 (GRCm39) |
Y729H |
probably damaging |
Het |
Zfp329 |
C |
A |
7: 12,540,457 (GRCm39) |
|
probably benign |
Het |
Zfp456 |
A |
T |
13: 67,514,384 (GRCm39) |
S441T |
probably benign |
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 |
IGL02063:Pcdhb9
|
APN |
18 |
37,534,810 (GRCm39) |
missense |
probably benign |
0.21 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAACCCTCACAGCTCTGGATG -3'
(R):5'- GGCATTGTCATTCACATCCAC -3'
Sequencing Primer
(F):5'- AGGAACAGCCCTGGTTCGAATC -3'
(R):5'- CCACCTCTATCGTTACAGAGC -3'
|
Posted On |
2018-11-06 |