Incidental Mutation 'R0669:Pcdhb9'
| ID |
62166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| MMRRC Submission |
038854-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R0669 (G1)
|
| Quality Score |
101 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37535308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 434
(N434I)
|
| 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: N434I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: N434I
| 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 |
|
| Meta Mutation Damage Score |
0.7897 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.8%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
A |
11: 72,089,671 (GRCm39) |
H71L |
possibly damaging |
Het |
| Abcb11 |
C |
A |
2: 69,159,662 (GRCm39) |
V10L |
probably benign |
Het |
| Abcb9 |
T |
C |
5: 124,200,950 (GRCm39) |
T689A |
probably damaging |
Het |
| Adam22 |
A |
G |
5: 8,193,036 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,614 (GRCm39) |
I181T |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,857,938 (GRCm39) |
V231D |
probably damaging |
Het |
| Angptl6 |
C |
T |
9: 20,787,823 (GRCm39) |
V197M |
probably damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,772 (GRCm39) |
V99A |
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 29,189,906 (GRCm39) |
V110A |
probably benign |
Het |
| Ccdc32 |
A |
G |
2: 118,849,648 (GRCm39) |
|
probably benign |
Het |
| Cela3b |
T |
C |
4: 137,155,841 (GRCm39) |
H22R |
probably benign |
Het |
| Cep44 |
T |
C |
8: 56,994,008 (GRCm39) |
T190A |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,435 (GRCm39) |
C557R |
probably damaging |
Het |
| Cntd1 |
A |
G |
11: 101,178,324 (GRCm39) |
T308A |
probably damaging |
Het |
| Cutal |
T |
C |
2: 34,775,878 (GRCm39) |
|
probably benign |
Het |
| Dipk1b |
A |
G |
2: 26,524,878 (GRCm39) |
T93A |
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,792,768 (GRCm39) |
D261G |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,342,911 (GRCm39) |
S1418R |
probably benign |
Het |
| Dnpep |
A |
G |
1: 75,288,422 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,875,716 (GRCm39) |
Y1075N |
probably benign |
Het |
| Eif2s1 |
C |
T |
12: 78,928,012 (GRCm39) |
|
probably benign |
Het |
| Ess2 |
T |
C |
16: 17,725,419 (GRCm39) |
Y221C |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,425,573 (GRCm39) |
|
probably null |
Het |
| Gm5592 |
T |
C |
7: 40,805,254 (GRCm39) |
|
probably benign |
Het |
| Ipp |
A |
G |
4: 116,395,073 (GRCm39) |
Y536C |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,686,740 (GRCm39) |
E402G |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,014,638 (GRCm39) |
L599P |
probably damaging |
Het |
| Lingo2 |
T |
A |
4: 35,709,120 (GRCm39) |
T287S |
probably benign |
Het |
| Lipo3 |
T |
A |
19: 33,537,025 (GRCm39) |
T232S |
probably benign |
Het |
| Lrrc63 |
G |
A |
14: 75,363,550 (GRCm39) |
H194Y |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,725,274 (GRCm39) |
T416A |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,875,153 (GRCm39) |
|
probably null |
Het |
| Mms22l |
T |
C |
4: 24,517,223 (GRCm39) |
V258A |
probably benign |
Het |
| Mrpl46 |
A |
T |
7: 78,432,631 (GRCm39) |
L49* |
probably null |
Het |
| Mrs2 |
T |
C |
13: 25,177,742 (GRCm39) |
T369A |
possibly damaging |
Het |
| Mtrf1 |
T |
A |
14: 79,656,708 (GRCm39) |
Y403* |
probably null |
Het |
| Muc20 |
G |
A |
16: 32,614,850 (GRCm39) |
P176S |
unknown |
Het |
| Mup21 |
C |
T |
4: 62,068,964 (GRCm39) |
C9Y |
unknown |
Het |
| Mup-ps21 |
A |
T |
4: 61,949,007 (GRCm39) |
|
noncoding transcript |
Het |
| Mybph |
T |
G |
1: 134,125,081 (GRCm39) |
|
probably null |
Het |
| Mypn |
A |
G |
10: 62,970,702 (GRCm39) |
|
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,058,431 (GRCm39) |
S124P |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,241 (GRCm39) |
D556G |
probably damaging |
Het |
| Numa1 |
A |
C |
7: 101,648,884 (GRCm39) |
I872L |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,544 (GRCm39) |
I225V |
possibly damaging |
Het |
| Or2a7 |
C |
T |
6: 43,150,938 (GRCm39) |
T6I |
probably benign |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,272 (GRCm39) |
M108L |
probably benign |
Het |
| Or5p52 |
T |
A |
7: 107,502,446 (GRCm39) |
I174K |
probably damaging |
Het |
| Pigq |
A |
T |
17: 26,155,736 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
T |
G |
1: 194,471,145 (GRCm39) |
V972G |
probably damaging |
Het |
| Psma3 |
G |
A |
12: 71,035,269 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,703,975 (GRCm39) |
T1336A |
probably benign |
Het |
| Rdh7 |
T |
C |
10: 127,720,598 (GRCm39) |
D258G |
probably benign |
Het |
| Serpinb6c |
A |
G |
13: 34,083,252 (GRCm39) |
I54T |
probably damaging |
Het |
| Sh2d7 |
A |
T |
9: 54,448,633 (GRCm39) |
Y218F |
probably benign |
Het |
| Shfl |
AGAGGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGAGGA |
9: 20,785,013 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
A |
T |
16: 33,371,274 (GRCm39) |
I137F |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,683,600 (GRCm39) |
V1153A |
possibly damaging |
Het |
| Smc6 |
A |
T |
12: 11,339,165 (GRCm39) |
I334L |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,230,380 (GRCm39) |
|
probably benign |
Het |
| Taar8c |
A |
G |
10: 23,977,401 (GRCm39) |
L137P |
probably damaging |
Het |
| Tcam1 |
A |
T |
11: 106,176,252 (GRCm39) |
D326V |
possibly damaging |
Het |
| Telo2 |
A |
T |
17: 25,324,797 (GRCm39) |
V461D |
probably benign |
Het |
| Tmprss7 |
A |
T |
16: 45,498,325 (GRCm39) |
C351* |
probably null |
Het |
| Trim66 |
T |
A |
7: 109,054,199 (GRCm39) |
|
probably benign |
Het |
| Ube2d1 |
G |
T |
10: 71,097,940 (GRCm39) |
H32N |
probably benign |
Het |
| Ubp1 |
T |
C |
9: 113,793,736 (GRCm39) |
|
probably benign |
Het |
| Vma21 |
C |
T |
X: 70,863,763 (GRCm39) |
T81M |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,345 (GRCm39) |
S46P |
probably benign |
Het |
| Wars1 |
T |
C |
12: 108,831,944 (GRCm39) |
S374G |
probably benign |
Het |
| Wbp1 |
T |
C |
6: 83,096,326 (GRCm39) |
D277G |
possibly damaging |
Het |
| Zfp939 |
C |
A |
7: 39,123,209 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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 |
|
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'- GGATGTGAATGACAATGCCCCAGAG -3'
(R):5'- TTAACGAAGAGAGGGCCAGTTCCG -3'
Sequencing Primer
(F):5'- AGAGCTGACCATATCTTCACTG -3'
(R):5'- TTCTCGCGGACAAACATGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation