Incidental Mutation 'R4626:Pcdhb9'
| ID |
348811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| MMRRC Submission |
041891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4626 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37535302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 432
(F432Y)
|
| 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: F432Y
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: F432Y
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
A |
C |
11: 84,313,784 (GRCm39) |
*527G |
probably null |
Het |
| Abca17 |
A |
T |
17: 24,540,058 (GRCm39) |
I390N |
probably damaging |
Het |
| Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
| Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ankrd49 |
A |
C |
9: 14,693,936 (GRCm39) |
L77R |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,540,586 (GRCm39) |
N169K |
possibly damaging |
Het |
| Arhgap39 |
A |
C |
15: 76,621,837 (GRCm39) |
F255V |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,698,193 (GRCm39) |
N171I |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,481,863 (GRCm39) |
D953G |
probably damaging |
Het |
| Atxn1 |
T |
C |
13: 45,720,575 (GRCm39) |
Y440C |
probably damaging |
Het |
| Bccip |
T |
C |
7: 133,322,457 (GRCm39) |
Y268H |
possibly damaging |
Het |
| Brms1l |
C |
A |
12: 55,909,958 (GRCm39) |
P243T |
probably benign |
Het |
| Btbd10 |
T |
C |
7: 112,927,605 (GRCm39) |
E250G |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,358,294 (GRCm39) |
|
probably null |
Het |
| Cfhr2 |
A |
T |
1: 139,741,314 (GRCm39) |
N220K |
probably damaging |
Het |
| Csnk1g2 |
C |
A |
10: 80,475,648 (GRCm39) |
A405E |
probably damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,771,903 (GRCm39) |
I831V |
possibly damaging |
Het |
| F2 |
T |
A |
2: 91,461,015 (GRCm39) |
N239I |
probably benign |
Het |
| Fbln5 |
T |
A |
12: 101,727,086 (GRCm39) |
D301V |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,146,819 (GRCm39) |
C2692* |
probably null |
Het |
| Fhdc1 |
C |
T |
3: 84,381,557 (GRCm39) |
D34N |
probably damaging |
Het |
| Galnt13 |
T |
A |
2: 54,747,878 (GRCm39) |
M253K |
probably damaging |
Het |
| Gpc6 |
C |
A |
14: 118,202,255 (GRCm39) |
Y488* |
probably null |
Het |
| Grm5 |
G |
T |
7: 87,779,361 (GRCm39) |
G934C |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,088,958 (GRCm39) |
L119S |
probably damaging |
Het |
| H2-T15 |
CTGGGTG |
CTG |
17: 36,368,788 (GRCm39) |
|
probably null |
Het |
| Htra4 |
T |
C |
8: 25,527,130 (GRCm39) |
N222D |
probably benign |
Het |
| Iba57 |
A |
G |
11: 59,049,287 (GRCm39) |
V294A |
probably benign |
Het |
| Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lama5 |
G |
A |
2: 179,826,253 (GRCm39) |
T2330M |
probably damaging |
Het |
| Lrguk |
G |
A |
6: 34,106,158 (GRCm39) |
E728K |
probably benign |
Het |
| Mcm6 |
T |
C |
1: 128,279,285 (GRCm39) |
D167G |
probably benign |
Het |
| Mettl18 |
T |
A |
1: 163,824,045 (GRCm39) |
V122E |
probably damaging |
Het |
| Mindy2 |
G |
A |
9: 70,534,063 (GRCm39) |
S378L |
probably damaging |
Het |
| Mis18bp1 |
G |
T |
12: 65,187,540 (GRCm39) |
F854L |
probably damaging |
Het |
| Mtdh |
C |
T |
15: 34,114,980 (GRCm39) |
R106* |
probably null |
Het |
| Nup214 |
T |
A |
2: 31,923,416 (GRCm39) |
V1315E |
possibly damaging |
Het |
| Nup58 |
A |
G |
14: 60,476,004 (GRCm39) |
V271A |
probably benign |
Het |
| Or1j1 |
A |
G |
2: 36,702,271 (GRCm39) |
Y278H |
probably damaging |
Het |
| Or4c101 |
T |
C |
2: 88,390,176 (GRCm39) |
V121A |
possibly damaging |
Het |
| Or6f2 |
T |
C |
7: 139,756,359 (GRCm39) |
S109P |
probably damaging |
Het |
| Orc5 |
G |
T |
5: 22,753,003 (GRCm39) |
F10L |
probably benign |
Het |
| Pcdha11 |
A |
T |
18: 37,140,051 (GRCm39) |
N560I |
probably damaging |
Het |
| Peg10 |
GGATCC |
GGATCCCCATCAAGATCC |
6: 4,756,460 (GRCm39) |
|
probably benign |
Het |
| Poll |
C |
A |
19: 45,543,563 (GRCm39) |
M385I |
probably benign |
Het |
| Pomt1 |
A |
G |
2: 32,144,424 (GRCm39) |
K737E |
possibly damaging |
Het |
| Prr16 |
C |
T |
18: 51,435,911 (GRCm39) |
T130I |
probably damaging |
Het |
| Ptpn18 |
A |
G |
1: 34,510,873 (GRCm39) |
|
probably null |
Het |
| Ranbp6 |
A |
T |
19: 29,788,263 (GRCm39) |
Y696* |
probably null |
Het |
| Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,460,571 (GRCm39) |
I1101T |
possibly damaging |
Het |
| Slc22a22 |
T |
C |
15: 57,126,734 (GRCm39) |
T93A |
probably damaging |
Het |
| Snx10 |
A |
G |
6: 51,565,270 (GRCm39) |
D129G |
probably damaging |
Het |
| Stub1 |
A |
G |
17: 26,050,845 (GRCm39) |
|
probably null |
Het |
| Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,779,186 (GRCm39) |
Y278H |
possibly damaging |
Het |
| Ugt2b36 |
A |
C |
5: 87,239,947 (GRCm39) |
F146C |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,160,172 (GRCm39) |
I692V |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,091,800 (GRCm39) |
L513P |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,467,699 (GRCm39) |
V2619D |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,315,844 (GRCm39) |
N1211Y |
possibly damaging |
Het |
| Zp3r |
A |
G |
1: 130,542,912 (GRCm39) |
F142L |
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 |
|
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 |
|
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'- ATGACAATGCCCCAGAGCTG -3'
(R):5'- CTGATGGTGCCTATGTGCAG -3'
Sequencing Primer
(F):5'- AGAGCTGACCATATCTTCACTG -3'
(R):5'- TGTTCTCGCGGACAAACATG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation