Incidental Mutation 'R8833:Pcdhb9'
| ID |
674009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| MMRRC Submission |
068661-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R8833 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 37534468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Isoleucine
at position 154
(R154I)
|
| 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: R154I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: R154I
| 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: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
T |
A |
13: 4,496,377 (GRCm39) |
D132E |
possibly damaging |
Het |
| Armh4 |
C |
T |
14: 50,011,318 (GRCm39) |
V130I |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,112,986 (GRCm39) |
E844G |
probably damaging |
Het |
| Bbx |
T |
A |
16: 50,045,629 (GRCm39) |
M311L |
probably benign |
Het |
| Bzw2 |
A |
T |
12: 36,169,069 (GRCm39) |
M153K |
probably benign |
Het |
| C1qtnf6 |
G |
T |
15: 78,409,574 (GRCm39) |
T91K |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,535,828 (GRCm39) |
D793G |
possibly damaging |
Het |
| Ces4a |
A |
G |
8: 105,858,614 (GRCm39) |
I11V |
probably benign |
Het |
| Cpne9 |
T |
C |
6: 113,281,473 (GRCm39) |
L518P |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,625,519 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
C |
15: 71,334,783 (GRCm39) |
N804D |
probably benign |
Het |
| Frem3 |
G |
A |
8: 81,339,401 (GRCm39) |
D565N |
probably benign |
Het |
| Fscb |
T |
A |
12: 64,519,997 (GRCm39) |
T490S |
unknown |
Het |
| Fuca1 |
A |
G |
4: 135,648,206 (GRCm39) |
D31G |
probably damaging |
Het |
| Gbp8 |
G |
T |
5: 105,166,668 (GRCm39) |
N220K |
possibly damaging |
Het |
| Gfra2 |
T |
C |
14: 71,163,337 (GRCm39) |
F207L |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,522,684 (GRCm39) |
N70S |
probably benign |
Het |
| Ifna13 |
C |
A |
4: 88,562,157 (GRCm39) |
E156* |
probably null |
Het |
| Jmjd1c |
G |
A |
10: 67,054,162 (GRCm39) |
R22H |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,365,134 (GRCm39) |
V3209A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,105 (GRCm39) |
T1684A |
unknown |
Het |
| Naip5 |
T |
A |
13: 100,359,442 (GRCm39) |
E598V |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,520,681 (GRCm39) |
V125E |
probably damaging |
Het |
| Notch1 |
G |
A |
2: 26,371,615 (GRCm39) |
T278I |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,065,643 (GRCm39) |
V171A |
possibly damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,823 (GRCm39) |
C169* |
probably null |
Het |
| Or52z13 |
T |
G |
7: 103,247,444 (GRCm39) |
F307C |
possibly damaging |
Het |
| Or5k14 |
A |
T |
16: 58,692,959 (GRCm39) |
Y185N |
probably damaging |
Het |
| Orm1 |
A |
T |
4: 63,262,938 (GRCm39) |
E35V |
probably damaging |
Het |
| Pak1 |
T |
A |
7: 97,503,839 (GRCm39) |
I58N |
possibly damaging |
Het |
| Pard3b |
A |
G |
1: 62,384,158 (GRCm39) |
E841G |
probably benign |
Het |
| Pdpr |
G |
A |
8: 111,852,312 (GRCm39) |
V560I |
probably damaging |
Het |
| Pkdcc |
T |
C |
17: 83,531,355 (GRCm39) |
F455L |
probably damaging |
Het |
| Potefam3c |
A |
T |
8: 69,881,982 (GRCm39) |
D331E |
probably benign |
Het |
| Pus7l |
A |
T |
15: 94,438,143 (GRCm39) |
F234Y |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,990,722 (GRCm39) |
L632Q |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,819,015 (GRCm38) |
|
probably benign |
Het |
| Ro60 |
T |
A |
1: 143,641,517 (GRCm39) |
K315* |
probably null |
Het |
| Rom1 |
A |
T |
19: 8,905,471 (GRCm39) |
H236Q |
possibly damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,819,352 (GRCm39) |
S311P |
probably benign |
Het |
| Slc26a1 |
T |
C |
5: 108,820,182 (GRCm39) |
D355G |
probably benign |
Het |
| Slc28a3 |
C |
T |
13: 58,707,077 (GRCm39) |
A574T |
probably damaging |
Het |
| Sox11 |
A |
G |
12: 27,392,313 (GRCm39) |
V32A |
possibly damaging |
Het |
| Spata17 |
T |
C |
1: 186,915,436 (GRCm39) |
Y107C |
probably damaging |
Het |
| Speer1a |
C |
A |
5: 11,394,205 (GRCm39) |
Y104* |
probably null |
Het |
| Stxbp5l |
T |
C |
16: 37,024,814 (GRCm39) |
T595A |
probably benign |
Het |
| Syt11 |
T |
C |
3: 88,655,149 (GRCm39) |
D78G |
probably damaging |
Het |
| Tatdn2 |
T |
G |
6: 113,684,348 (GRCm39) |
I674S |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,383,878 (GRCm39) |
S189R |
probably benign |
Het |
| Tln2 |
C |
A |
9: 67,128,693 (GRCm39) |
E1465D |
possibly damaging |
Het |
| Tor3a |
T |
C |
1: 156,483,373 (GRCm39) |
T350A |
probably benign |
Het |
| Ttr |
T |
G |
18: 20,799,550 (GRCm39) |
V36G |
probably damaging |
Het |
| Vmn1r129 |
A |
T |
7: 21,095,205 (GRCm39) |
H4Q |
probably null |
Het |
| Vmn1r32 |
A |
G |
6: 66,530,623 (GRCm39) |
M51T |
possibly damaging |
Het |
| Zfp141 |
T |
C |
7: 42,125,687 (GRCm39) |
T262A |
possibly damaging |
Het |
| Zfp980 |
T |
A |
4: 145,427,596 (GRCm39) |
N108K |
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 |
|
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 |
|
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'- AAGTGGCTCCTTTGTAGCCC -3'
(R):5'- GTTAAGCTCAGCTCTGCCTG -3'
Sequencing Primer
(F):5'- TGGCCAAGGATCTGGGTC -3'
(R):5'- AGGCCTCTGTCCTGCAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation