Incidental Mutation 'R6304:Pcdhb9'
| ID |
509221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| MMRRC Submission |
044380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R6304 (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 37534420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 138
(V138E)
|
| 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: V138E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: V138E
| 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: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9b |
T |
A |
15: 77,619,504 (GRCm39) |
V100E |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,374,625 (GRCm39) |
D218G |
possibly damaging |
Het |
| Cbll1 |
A |
G |
12: 31,544,588 (GRCm39) |
|
probably null |
Het |
| Cped1 |
A |
T |
6: 22,016,922 (GRCm39) |
R90S |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,108,688 (GRCm39) |
L1905Q |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,944,553 (GRCm39) |
E266G |
probably benign |
Het |
| Elapor1 |
A |
C |
3: 108,368,572 (GRCm39) |
C806W |
probably damaging |
Het |
| Etaa1 |
A |
C |
11: 17,897,505 (GRCm39) |
M204R |
probably damaging |
Het |
| G6pc1 |
A |
G |
11: 101,258,735 (GRCm39) |
D38G |
probably damaging |
Het |
| Gramd4 |
A |
G |
15: 86,019,120 (GRCm39) |
E596G |
possibly damaging |
Het |
| Ifna5 |
T |
C |
4: 88,754,147 (GRCm39) |
V129A |
probably benign |
Het |
| Igsf9b |
C |
T |
9: 27,253,871 (GRCm39) |
R1354W |
probably benign |
Het |
| Kcnh3 |
T |
C |
15: 99,124,919 (GRCm39) |
V123A |
probably benign |
Het |
| Kcnh7 |
A |
T |
2: 62,594,960 (GRCm39) |
Y703* |
probably null |
Het |
| Kdm2b |
A |
G |
5: 123,019,807 (GRCm39) |
S260P |
probably benign |
Het |
| Kdm6b |
G |
T |
11: 69,295,084 (GRCm39) |
T1061K |
unknown |
Het |
| Lingo4 |
G |
A |
3: 94,310,513 (GRCm39) |
G484R |
probably damaging |
Het |
| Lpar1 |
T |
C |
4: 58,487,013 (GRCm39) |
Y86C |
probably damaging |
Het |
| Lrrc10b |
T |
C |
19: 10,434,342 (GRCm39) |
Q113R |
probably benign |
Het |
| Lrrc8c |
A |
T |
5: 105,756,475 (GRCm39) |
N750I |
probably benign |
Het |
| Miip |
T |
C |
4: 147,947,540 (GRCm39) |
M207V |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,882,684 (GRCm39) |
N456S |
possibly damaging |
Het |
| Mup4 |
T |
C |
4: 59,960,084 (GRCm39) |
H60R |
possibly damaging |
Het |
| Naip5 |
C |
T |
13: 100,359,674 (GRCm39) |
A521T |
possibly damaging |
Het |
| Nrp2 |
T |
C |
1: 62,784,565 (GRCm39) |
L238P |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,147,526 (GRCm39) |
S262P |
probably damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,238 (GRCm39) |
L224F |
probably damaging |
Het |
| Osbpl3 |
A |
G |
6: 50,289,654 (GRCm39) |
S604P |
probably damaging |
Het |
| Pcdhb6 |
C |
T |
18: 37,468,974 (GRCm39) |
R632* |
probably null |
Het |
| Pclo |
A |
T |
5: 14,727,907 (GRCm39) |
|
probably benign |
Het |
| Phyhipl |
A |
G |
10: 70,395,387 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
| Pomt1 |
T |
A |
2: 32,140,802 (GRCm39) |
L478Q |
probably damaging |
Het |
| Robo2 |
T |
A |
16: 73,755,196 (GRCm39) |
Y779F |
probably damaging |
Het |
| Sesn3 |
A |
T |
9: 14,233,857 (GRCm39) |
|
probably null |
Het |
| Sh3gl1 |
A |
T |
17: 56,343,431 (GRCm39) |
F10Y |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,126,202 (GRCm39) |
K2269N |
possibly damaging |
Het |
| Spsb1 |
C |
T |
4: 149,991,188 (GRCm39) |
V127I |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,940,412 (GRCm39) |
I297T |
probably damaging |
Het |
| Trim14 |
C |
A |
4: 46,522,118 (GRCm39) |
M186I |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,746,079 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,721,443 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,611,036 (GRCm39) |
D1260G |
possibly damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,184,975 (GRCm39) |
T111S |
probably damaging |
Het |
| Vmn2r51 |
T |
C |
7: 9,832,164 (GRCm39) |
Q474R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTGGCTCCTTTGTAGCCC -3'
(R):5'- CTGACTGTGTATTGTTGAAGCC -3'
Sequencing Primer
(F):5'- CCTTTGTAGCCCACCTGG -3'
(R):5'- ACTGTGTATTGTTGAAGCCCATTGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation