Incidental Mutation 'R5186:Pcdhb9'
| ID |
397925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| MMRRC Submission |
042765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5186 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37534285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 93
(E93G)
|
| 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: E93G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: E93G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,982,425 (GRCm39) |
I6V |
probably null |
Het |
| Aox1 |
A |
G |
1: 58,107,529 (GRCm39) |
D601G |
probably damaging |
Het |
| Asic1 |
GCACC |
GCACCACC |
15: 99,596,684 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
T |
G |
11: 94,333,674 (GRCm39) |
N931T |
probably damaging |
Het |
| Ccdc14 |
T |
C |
16: 34,541,955 (GRCm39) |
F511L |
probably damaging |
Het |
| Cd177 |
T |
A |
7: 24,444,348 (GRCm39) |
E710V |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,643,386 (GRCm39) |
C49R |
probably benign |
Het |
| Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
| Dnah2 |
T |
C |
11: 69,326,710 (GRCm39) |
N3575S |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,044,410 (GRCm39) |
I3234F |
probably damaging |
Het |
| Eci3 |
G |
T |
13: 35,130,961 (GRCm39) |
A302E |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,188,421 (GRCm39) |
K214E |
probably damaging |
Het |
| Fam78a |
T |
C |
2: 31,972,666 (GRCm39) |
T85A |
possibly damaging |
Het |
| Flnb |
T |
C |
14: 7,909,748 (GRCm38) |
Y1401H |
probably damaging |
Het |
| Foxl2 |
A |
T |
9: 98,838,108 (GRCm39) |
D132V |
probably damaging |
Het |
| Frs2 |
C |
A |
10: 116,914,747 (GRCm39) |
W57C |
probably damaging |
Het |
| Gm26558 |
G |
T |
2: 70,491,761 (GRCm39) |
|
probably benign |
Het |
| Gpr139 |
A |
G |
7: 118,744,063 (GRCm39) |
V174A |
probably benign |
Het |
| Grik5 |
T |
C |
7: 24,715,244 (GRCm39) |
T676A |
probably damaging |
Het |
| H60c |
T |
C |
10: 3,209,273 (GRCm39) |
|
probably null |
Het |
| Hspa1l |
A |
G |
17: 35,197,445 (GRCm39) |
K495E |
probably damaging |
Het |
| Irgm1 |
C |
T |
11: 48,757,044 (GRCm39) |
V256I |
probably benign |
Het |
| Kat7 |
T |
A |
11: 95,177,242 (GRCm39) |
T293S |
probably benign |
Het |
| Lipg |
C |
T |
18: 75,094,009 (GRCm39) |
V13I |
probably benign |
Het |
| Lrrn1 |
A |
T |
6: 107,546,185 (GRCm39) |
Y661F |
probably damaging |
Het |
| Mllt3 |
A |
G |
4: 87,759,232 (GRCm39) |
V272A |
probably benign |
Het |
| Mx1 |
G |
A |
16: 97,256,694 (GRCm39) |
R162C |
probably benign |
Het |
| Myo18b |
T |
A |
5: 113,019,336 (GRCm39) |
D647V |
probably damaging |
Het |
| Naf1 |
G |
A |
8: 67,332,298 (GRCm39) |
V329I |
probably benign |
Het |
| Or4k40 |
A |
T |
2: 111,251,119 (GRCm39) |
M59K |
probably damaging |
Het |
| Or52u1 |
A |
T |
7: 104,237,418 (GRCm39) |
I153F |
probably damaging |
Het |
| Or8g22 |
A |
T |
9: 38,958,265 (GRCm39) |
C194* |
probably null |
Het |
| P2rx5 |
G |
A |
11: 73,062,616 (GRCm39) |
V442M |
possibly damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,820,479 (GRCm39) |
N676I |
probably benign |
Het |
| Pgm5 |
A |
G |
19: 24,797,492 (GRCm39) |
M230T |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,599,016 (GRCm39) |
V44A |
probably damaging |
Het |
| Pp2d1 |
T |
C |
17: 53,815,168 (GRCm39) |
M519V |
probably benign |
Het |
| Ppp1r10 |
A |
G |
17: 36,239,403 (GRCm39) |
E404G |
probably damaging |
Het |
| Prpf8 |
A |
T |
11: 75,380,609 (GRCm39) |
E104V |
possibly damaging |
Het |
| Ptpra |
T |
C |
2: 30,328,367 (GRCm39) |
|
probably null |
Het |
| Pygl |
A |
C |
12: 70,248,118 (GRCm39) |
N248K |
probably damaging |
Het |
| Rbm8a |
A |
G |
3: 96,538,248 (GRCm39) |
D102G |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,634,875 (GRCm39) |
D647G |
probably benign |
Het |
| Serpinb11 |
A |
T |
1: 107,307,484 (GRCm39) |
D305V |
probably damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,437,578 (GRCm39) |
I337T |
probably damaging |
Het |
| Slc29a2 |
G |
A |
19: 5,078,995 (GRCm39) |
R286Q |
probably benign |
Het |
| Slc2a3 |
T |
A |
6: 122,712,542 (GRCm39) |
D234V |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,114,901 (GRCm39) |
V608A |
probably damaging |
Het |
| Spata31d1e |
A |
T |
13: 59,891,553 (GRCm39) |
L89H |
probably damaging |
Het |
| Srrm2 |
C |
T |
17: 24,035,561 (GRCm39) |
T831I |
probably benign |
Het |
| St18 |
T |
A |
1: 6,872,541 (GRCm39) |
|
probably null |
Het |
| Tesk2 |
G |
C |
4: 116,599,093 (GRCm39) |
G67A |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,082,564 (GRCm39) |
L671H |
probably damaging |
Het |
| Tmem63b |
A |
T |
17: 45,972,403 (GRCm39) |
Y735N |
possibly damaging |
Het |
| Tmprss11a |
C |
T |
5: 86,567,938 (GRCm39) |
C263Y |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,898,077 (GRCm39) |
V345E |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,964,470 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
A |
G |
15: 37,998,160 (GRCm39) |
S1674P |
probably damaging |
Het |
| Uchl3 |
T |
A |
14: 101,933,353 (GRCm39) |
C209S |
probably damaging |
Het |
| Uhmk1 |
T |
C |
1: 170,038,736 (GRCm39) |
N206S |
probably damaging |
Het |
| Uhrf1 |
C |
T |
17: 56,625,340 (GRCm39) |
R588W |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,921,550 (GRCm39) |
V256A |
probably damaging |
Het |
| Utrn |
C |
A |
10: 12,604,521 (GRCm39) |
L552F |
probably damaging |
Het |
| Vmn1r55 |
A |
T |
7: 5,149,985 (GRCm39) |
M146K |
probably damaging |
Het |
| Vmn1r57 |
A |
C |
7: 5,224,107 (GRCm39) |
I211L |
probably benign |
Het |
| Zar1 |
C |
T |
5: 72,734,742 (GRCm39) |
C316Y |
probably damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,549,412 (GRCm39) |
S750T |
probably damaging |
Het |
| Zfp366 |
G |
A |
13: 99,382,676 (GRCm39) |
C613Y |
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,493 (GRCm39) |
C524S |
probably damaging |
Het |
| Zfp516 |
T |
C |
18: 82,975,218 (GRCm39) |
V472A |
probably benign |
Het |
| Zhx1 |
A |
T |
15: 57,915,819 (GRCm39) |
M809K |
probably damaging |
Het |
| Zic1 |
T |
C |
9: 91,246,424 (GRCm39) |
Y216C |
probably 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 |
|
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 |
|
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'- TCATCATGGAGAAGCTGGGG -3'
(R):5'- CTGGGAATTCTGGAGCATGATC -3'
Sequencing Primer
(F):5'- GGGAGAATTCACCTAAACAGGC -3'
(R):5'- CTGGAGCATGATCATTTATGTCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation