Incidental Mutation 'R8729:Pcdhb9'
| ID |
662675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| MMRRC Submission |
068577-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R8729 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37535639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 544
(D544E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057228]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
E9Q5G2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057228
AA Change: D544E
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: D544E
| 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: 99.5%
- 20x: 97.9%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,468,176 (GRCm39) |
Y148* |
probably null |
Het |
| Ank3 |
A |
G |
10: 69,838,428 (GRCm39) |
D1812G |
possibly damaging |
Het |
| Ankrd17 |
C |
T |
5: 90,443,452 (GRCm39) |
C405Y |
probably benign |
Het |
| Ankrd61 |
A |
G |
5: 143,827,803 (GRCm39) |
Y391H |
probably benign |
Het |
| Calcb |
A |
C |
7: 114,319,428 (GRCm39) |
E70A |
probably benign |
Het |
| Ccr1 |
T |
C |
9: 123,763,831 (GRCm39) |
K233R |
probably benign |
Het |
| Ccz1 |
T |
C |
5: 143,948,310 (GRCm39) |
D115G |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,310,893 (GRCm39) |
L1203* |
probably null |
Het |
| Csmd2 |
G |
A |
4: 128,356,638 (GRCm39) |
D1648N |
|
Het |
| Csn1s1 |
T |
C |
5: 87,824,998 (GRCm39) |
|
probably null |
Het |
| Depp1 |
C |
A |
6: 116,628,762 (GRCm39) |
P35H |
probably damaging |
Het |
| Eif2ak3 |
C |
A |
6: 70,821,864 (GRCm39) |
P52Q |
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,119,198 (GRCm39) |
E441G |
probably null |
Het |
| Gpat2 |
C |
A |
2: 127,275,739 (GRCm39) |
Q506K |
probably damaging |
Het |
| Gramd1a |
C |
A |
7: 30,843,248 (GRCm39) |
R20L |
possibly damaging |
Het |
| Helz |
G |
T |
11: 107,528,754 (GRCm39) |
|
probably null |
Het |
| Hif1a |
A |
G |
12: 73,990,902 (GRCm39) |
N725D |
probably damaging |
Het |
| Ighv3-3 |
A |
T |
12: 114,160,252 (GRCm39) |
W53R |
possibly damaging |
Het |
| Kat2a |
T |
C |
11: 100,601,337 (GRCm39) |
K331R |
probably benign |
Het |
| Klk1b4 |
T |
A |
7: 43,856,884 (GRCm39) |
F3I |
probably damaging |
Het |
| Krt78 |
T |
G |
15: 101,855,455 (GRCm39) |
Q785H |
probably damaging |
Het |
| Lsm11 |
C |
T |
11: 45,835,727 (GRCm39) |
E5K |
possibly damaging |
Het |
| Luzp2 |
A |
G |
7: 54,816,985 (GRCm39) |
K145R |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,973,462 (GRCm39) |
T506A |
probably benign |
Het |
| Msrb3 |
A |
C |
10: 120,687,974 (GRCm39) |
C34G |
probably null |
Het |
| Muc16 |
T |
C |
9: 18,571,346 (GRCm39) |
D391G |
unknown |
Het |
| Mybpc2 |
C |
T |
7: 44,155,611 (GRCm39) |
V881M |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,881,851 (GRCm39) |
K31R |
probably damaging |
Het |
| Ndnf |
A |
T |
6: 65,680,758 (GRCm39) |
K346* |
probably null |
Het |
| Nfs1 |
G |
A |
2: 155,965,727 (GRCm39) |
T118I |
probably benign |
Het |
| Niban2 |
T |
A |
2: 32,799,946 (GRCm39) |
L91Q |
probably damaging |
Het |
| Nlrp9c |
T |
G |
7: 26,071,428 (GRCm39) |
K893N |
probably benign |
Het |
| Nmd3 |
A |
T |
3: 69,655,682 (GRCm39) |
K454N |
possibly damaging |
Het |
| Or5ae1 |
T |
C |
7: 84,565,523 (GRCm39) |
C179R |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,997,866 (GRCm39) |
I312V |
probably damaging |
Het |
| Pkd2l2 |
G |
A |
18: 34,566,354 (GRCm39) |
V522I |
probably benign |
Het |
| Polr3c |
C |
T |
3: 96,634,796 (GRCm39) |
|
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,583,052 (GRCm39) |
H271Q |
probably damaging |
Het |
| Rpp21 |
A |
G |
17: 36,566,927 (GRCm39) |
S59P |
probably benign |
Het |
| Rxfp4 |
T |
A |
3: 88,559,305 (GRCm39) |
N382I |
unknown |
Het |
| Sirt1 |
A |
G |
10: 63,156,705 (GRCm39) |
F642L |
probably damaging |
Het |
| Sp2 |
T |
C |
11: 96,852,099 (GRCm39) |
D275G |
possibly damaging |
Het |
| Speer4a3 |
A |
G |
5: 26,158,178 (GRCm39) |
V58A |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,142,005 (GRCm39) |
T414I |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,179,275 (GRCm39) |
M4400L |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,220,376 (GRCm39) |
H156L |
possibly damaging |
Het |
| Tbxas1 |
G |
T |
6: 38,978,272 (GRCm39) |
M140I |
probably benign |
Het |
| Tcof1 |
G |
T |
18: 60,962,145 (GRCm39) |
P695T |
unknown |
Het |
| Tmprss9 |
A |
T |
10: 80,726,177 (GRCm39) |
M476L |
probably benign |
Het |
| Trat1 |
A |
T |
16: 48,562,591 (GRCm39) |
I73N |
probably damaging |
Het |
| Trp53bp2 |
A |
T |
1: 182,276,587 (GRCm39) |
E856V |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,383,509 (GRCm39) |
|
probably null |
Het |
| Ttn |
AC |
A |
2: 76,749,528 (GRCm39) |
|
probably null |
Het |
| Twf1 |
T |
C |
15: 94,479,212 (GRCm39) |
N216D |
probably benign |
Het |
| Unc80 |
C |
A |
1: 66,647,649 (GRCm39) |
H1530N |
probably benign |
Het |
| Vmn1r235 |
A |
T |
17: 21,481,875 (GRCm39) |
M67L |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,767,239 (GRCm39) |
Y753N |
probably damaging |
Het |
| Zkscan5 |
T |
A |
5: 145,157,071 (GRCm39) |
N524K |
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 |
|
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 |
|
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'- TGCAGGTGTCCGACATCAAC -3'
(R):5'- TAGGCAGCAGCTCAGTGAAG -3'
Sequencing Primer
(F):5'- GGTGTCCGACATCAACGACAAC -3'
(R):5'- CCGAGGCGTTCTGCATAGGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation