Incidental Mutation 'R7258:Pcdhb9'
| ID |
564447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| MMRRC Submission |
045386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R7258 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37535167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 387
(L387P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057228]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
E9Q5G2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057228
AA Change: L387P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: L387P
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
A |
C |
8: 88,312,805 (GRCm39) |
S197R |
probably damaging |
Het |
| Abcc12 |
T |
C |
8: 87,287,486 (GRCm39) |
R120G |
possibly damaging |
Het |
| Abhd14b |
A |
G |
9: 106,327,418 (GRCm39) |
I67V |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,518,115 (GRCm39) |
V62E |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,690,886 (GRCm39) |
V1196A |
probably benign |
Het |
| Ccr5 |
A |
T |
9: 123,925,311 (GRCm39) |
K305* |
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,292,518 (GRCm39) |
H339R |
probably damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,899,648 (GRCm38) |
F91L |
|
Het |
| Cep290 |
T |
G |
10: 100,334,970 (GRCm39) |
M330R |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,115,004 (GRCm39) |
Y901C |
probably benign |
Het |
| Ddx54 |
T |
G |
5: 120,758,812 (GRCm39) |
Y352D |
probably damaging |
Het |
| Defa35 |
A |
T |
8: 21,555,245 (GRCm39) |
H55L |
possibly damaging |
Het |
| Dnmt3b |
T |
A |
2: 153,525,519 (GRCm39) |
|
probably null |
Het |
| Enpep |
A |
C |
3: 129,125,724 (GRCm39) |
L136R |
probably benign |
Het |
| Epb41l2 |
G |
A |
10: 25,360,185 (GRCm39) |
A516T |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,305,764 (GRCm39) |
Q13L |
probably benign |
Het |
| Frmpd1 |
C |
A |
4: 45,269,974 (GRCm39) |
D271E |
possibly damaging |
Het |
| Gbp5 |
T |
A |
3: 142,212,542 (GRCm39) |
L410H |
probably damaging |
Het |
| Gipc2 |
T |
C |
3: 151,871,352 (GRCm39) |
E58G |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,105,106 (GRCm39) |
V269E |
probably benign |
Het |
| Grm5 |
A |
T |
7: 87,723,914 (GRCm39) |
T735S |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,080,819 (GRCm39) |
M9V |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,591,574 (GRCm39) |
I1875T |
probably benign |
Het |
| Hrc |
T |
A |
7: 44,985,720 (GRCm39) |
D290E |
possibly damaging |
Het |
| Iftap |
T |
C |
2: 101,440,937 (GRCm39) |
D22G |
probably null |
Het |
| Ippk |
C |
A |
13: 49,587,338 (GRCm39) |
Q136K |
probably benign |
Het |
| Kcnv1 |
T |
C |
15: 44,972,711 (GRCm39) |
T391A |
probably damaging |
Het |
| Kdm5b |
A |
C |
1: 134,548,759 (GRCm39) |
E1088A |
probably damaging |
Het |
| L1td1 |
C |
T |
4: 98,625,101 (GRCm39) |
A432V |
probably benign |
Het |
| Ly86 |
A |
G |
13: 37,529,473 (GRCm39) |
D20G |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,459,416 (GRCm39) |
I818T |
possibly damaging |
Het |
| Nms |
A |
G |
1: 38,986,051 (GRCm39) |
T121A |
probably benign |
Het |
| Or1e31 |
T |
G |
11: 73,690,206 (GRCm39) |
I126L |
probably damaging |
Het |
| Or1j4 |
T |
A |
2: 36,740,352 (GRCm39) |
I98K |
probably damaging |
Het |
| Or51af1 |
G |
C |
7: 103,141,796 (GRCm39) |
C96W |
probably damaging |
Het |
| Or6b3 |
A |
T |
1: 92,438,898 (GRCm39) |
I284N |
possibly damaging |
Het |
| Or6c69 |
T |
A |
10: 129,748,156 (GRCm39) |
|
probably benign |
Het |
| Or8k37 |
T |
A |
2: 86,469,345 (GRCm39) |
K236* |
probably null |
Het |
| Pcsk1 |
G |
A |
13: 75,241,305 (GRCm39) |
R95H |
probably damaging |
Het |
| Pde11a |
T |
C |
2: 75,970,250 (GRCm39) |
D502G |
possibly damaging |
Het |
| Plekhg2 |
T |
C |
7: 28,064,203 (GRCm39) |
D446G |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,721,108 (GRCm39) |
K54E |
not run |
Het |
| Rasal2 |
A |
T |
1: 156,985,270 (GRCm39) |
L826M |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
| Sin3b |
T |
C |
8: 73,476,836 (GRCm39) |
C757R |
probably benign |
Het |
| Slc41a1 |
T |
A |
1: 131,769,780 (GRCm39) |
V300D |
probably benign |
Het |
| Snorc |
A |
C |
1: 87,402,789 (GRCm39) |
I40L |
probably benign |
Het |
| Snrpa1 |
T |
C |
7: 65,719,891 (GRCm39) |
F162L |
probably damaging |
Het |
| Sox30 |
C |
A |
11: 45,871,379 (GRCm39) |
A78E |
unknown |
Het |
| Ssc4d |
G |
T |
5: 135,991,941 (GRCm39) |
A401E |
probably damaging |
Het |
| Steap3 |
A |
G |
1: 120,171,716 (GRCm39) |
F130L |
possibly damaging |
Het |
| Stx5a |
A |
G |
19: 8,732,271 (GRCm39) |
|
probably null |
Het |
| Tgfbr2 |
A |
T |
9: 115,958,898 (GRCm39) |
I172N |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,891,556 (GRCm39) |
D557G |
probably benign |
Het |
| Tmprss11c |
A |
G |
5: 86,419,272 (GRCm39) |
S96P |
probably damaging |
Het |
| Trpa1 |
T |
G |
1: 14,973,473 (GRCm39) |
T282P |
probably damaging |
Het |
| Uba5 |
A |
T |
9: 103,940,132 (GRCm39) |
V5E |
unknown |
Het |
| Ugt2b36 |
A |
T |
5: 87,228,762 (GRCm39) |
L427H |
probably damaging |
Het |
| Utp14b |
T |
A |
1: 78,642,691 (GRCm39) |
H196Q |
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,848 (GRCm39) |
L348F |
probably damaging |
Het |
| Vmn2r93 |
T |
G |
17: 18,525,403 (GRCm39) |
L354V |
probably benign |
Het |
| Wwc2 |
T |
A |
8: 48,296,034 (GRCm39) |
N1079Y |
unknown |
Het |
| Zfp653 |
T |
C |
9: 21,977,116 (GRCm39) |
D145G |
probably benign |
Het |
| Zfp777 |
T |
C |
6: 48,002,731 (GRCm39) |
E453G |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,803 (GRCm39) |
H423Q |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,514,151 (GRCm39) |
Y496N |
possibly 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 |
|
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 |
|
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 |
|
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'- TCAATAAACGCAACTAGTGGAGAC -3'
(R):5'- TGCCCATGTCAGAGACCATG -3'
Sequencing Primer
(F):5'- CAACTAGTGGAGACATGCGATTG -3'
(R):5'- CCATGATGGTGATATTGTACTCAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation