Incidental Mutation 'R8957:Pcdhb11'
| ID |
682131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb11
|
| Ensembl Gene |
ENSMUSG00000051486 |
| Gene Name |
protocadherin beta 11 |
| Synonyms |
PcdhbK, Pcdhb5E |
| MMRRC Submission |
068793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R8957 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37554471-37558085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37555872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 401
(T401A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053073]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91UZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053073
AA Change: T401A
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: T401A
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
54 |
131 |
3.51e-1 |
SMART |
|
CA
|
155 |
240 |
4.11e-21 |
SMART |
|
CA
|
264 |
344 |
6.37e-27 |
SMART |
|
CA
|
367 |
448 |
4.79e-22 |
SMART |
|
CA
|
472 |
558 |
7.31e-27 |
SMART |
|
CA
|
588 |
669 |
2.46e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
686 |
769 |
3.4e-26 |
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 |
0.1116 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
A |
G |
5: 114,951,891 (GRCm39) |
V28A |
probably benign |
Het |
| Abca12 |
T |
A |
1: 71,360,784 (GRCm39) |
D503V |
possibly damaging |
Het |
| Aco2 |
A |
T |
15: 81,773,701 (GRCm39) |
|
probably benign |
Het |
| Aff1 |
A |
G |
5: 103,981,634 (GRCm39) |
Q591R |
possibly damaging |
Het |
| Ankle2 |
G |
A |
5: 110,379,121 (GRCm39) |
A7T |
possibly damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,291,491 (GRCm39) |
N1314S |
probably benign |
Het |
| Apeh |
A |
T |
9: 107,969,572 (GRCm39) |
M216K |
probably benign |
Het |
| Armh1 |
T |
C |
4: 117,087,104 (GRCm39) |
Y187C |
probably damaging |
Het |
| Ascc3 |
C |
A |
10: 50,576,208 (GRCm39) |
A821E |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,543,701 (GRCm39) |
D650G |
probably null |
Het |
| Cav1 |
T |
A |
6: 17,339,235 (GRCm39) |
F107I |
probably benign |
Het |
| Ccdc146 |
A |
G |
5: 21,514,585 (GRCm39) |
|
probably benign |
Het |
| Ccdc57 |
A |
G |
11: 120,776,861 (GRCm39) |
I513T |
probably benign |
Het |
| Ccrl2 |
T |
C |
9: 110,884,557 (GRCm39) |
R314G |
probably benign |
Het |
| Cd1d1 |
T |
C |
3: 86,906,140 (GRCm39) |
D45G |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
| Col4a1 |
T |
A |
8: 11,295,906 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
C |
T |
5: 121,999,011 (GRCm39) |
G1310R |
probably benign |
Het |
| Cyld |
G |
T |
8: 89,432,410 (GRCm39) |
R136L |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,760,018 (GRCm39) |
N511K |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,189,573 (GRCm39) |
V1646M |
|
Het |
| Des |
A |
T |
1: 75,340,295 (GRCm39) |
I401F |
probably damaging |
Het |
| Dis3 |
T |
C |
14: 99,337,027 (GRCm39) |
D28G |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,953,950 (GRCm39) |
D83G |
probably damaging |
Het |
| Ehd1 |
A |
G |
19: 6,344,439 (GRCm39) |
Y233C |
probably damaging |
Het |
| Fcrlb |
G |
A |
1: 170,735,536 (GRCm39) |
A246V |
probably benign |
Het |
| Firrm |
C |
T |
1: 163,792,335 (GRCm39) |
R554H |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,489,541 (GRCm39) |
R357G |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,575,354 (GRCm39) |
D420G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,873,757 (GRCm39) |
|
probably null |
Het |
| Hdhd5 |
C |
T |
6: 120,495,404 (GRCm39) |
|
probably null |
Het |
| Iqgap2 |
G |
A |
13: 95,772,154 (GRCm39) |
R1342C |
probably damaging |
Het |
| Isyna1 |
T |
G |
8: 71,049,372 (GRCm39) |
L428R |
probably damaging |
Het |
| Jmjd4 |
C |
T |
11: 59,340,884 (GRCm39) |
|
probably benign |
Het |
| Klra1 |
A |
G |
6: 130,357,609 (GRCm39) |
V6A |
possibly damaging |
Het |
| Klrb1b |
T |
A |
6: 128,795,522 (GRCm39) |
K124N |
probably benign |
Het |
| Krtap19-3 |
T |
C |
16: 88,674,833 (GRCm39) |
|
probably benign |
Het |
| Lrrc74b |
T |
C |
16: 17,378,976 (GRCm39) |
T34A |
probably benign |
Het |
| Map9 |
A |
G |
3: 82,278,687 (GRCm39) |
Y229C |
probably benign |
Het |
| Mmp28 |
T |
C |
11: 83,334,636 (GRCm39) |
I373V |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,251,216 (GRCm39) |
Y1086* |
probably null |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,780 (GRCm39) |
K880E |
possibly damaging |
Het |
| Nav2 |
T |
G |
7: 49,220,964 (GRCm39) |
V1656G |
probably damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,382 (GRCm39) |
V247A |
probably damaging |
Het |
| Or1a1 |
T |
A |
11: 74,086,772 (GRCm39) |
S148T |
probably damaging |
Het |
| Or5b101 |
T |
A |
19: 13,004,881 (GRCm39) |
I271F |
probably benign |
Het |
| Pate2 |
T |
C |
9: 35,596,911 (GRCm39) |
W100R |
probably benign |
Het |
| Pgam1 |
T |
A |
19: 41,905,215 (GRCm39) |
I183N |
possibly damaging |
Het |
| Pou5f1 |
T |
G |
17: 35,821,366 (GRCm39) |
L326R |
possibly damaging |
Het |
| Rbm34 |
A |
C |
8: 127,692,208 (GRCm39) |
V178G |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,289,660 (GRCm39) |
V384A |
possibly damaging |
Het |
| Sec62 |
T |
A |
3: 30,864,671 (GRCm39) |
F178L |
unknown |
Het |
| Slco1a6 |
T |
C |
6: 142,091,493 (GRCm39) |
N69S |
probably damaging |
Het |
| Smok2b |
T |
A |
17: 13,453,873 (GRCm39) |
L11Q |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,526,113 (GRCm39) |
S255P |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,124,908 (GRCm39) |
Y2701H |
probably benign |
Het |
| Tesk2 |
T |
A |
4: 116,659,910 (GRCm39) |
F343I |
probably benign |
Het |
| Tmem106c |
A |
T |
15: 97,867,481 (GRCm39) |
I222F |
probably benign |
Het |
| Tmub1 |
G |
T |
5: 24,651,775 (GRCm39) |
T63K |
probably benign |
Het |
| Tnip3 |
A |
G |
6: 65,582,843 (GRCm39) |
T217A |
probably benign |
Het |
| Vmn2r10 |
T |
G |
5: 109,149,780 (GRCm39) |
K421N |
possibly damaging |
Het |
| Zfp975 |
A |
T |
7: 42,311,157 (GRCm39) |
H485Q |
probably damaging |
Het |
|
| Other mutations in Pcdhb11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Pcdhb11
|
APN |
18 |
37,555,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00906:Pcdhb11
|
APN |
18 |
37,555,174 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01610:Pcdhb11
|
APN |
18 |
37,556,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01973:Pcdhb11
|
APN |
18 |
37,556,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01977:Pcdhb11
|
APN |
18 |
37,555,344 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02164:Pcdhb11
|
APN |
18 |
37,556,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02282:Pcdhb11
|
APN |
18 |
37,556,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02674:Pcdhb11
|
APN |
18 |
37,556,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02965:Pcdhb11
|
APN |
18 |
37,557,021 (GRCm39) |
missense |
probably benign |
|
|
IGL03197:Pcdhb11
|
APN |
18 |
37,555,477 (GRCm39) |
nonsense |
probably null |
|
|
1mM(1):Pcdhb11
|
UTSW |
18 |
37,557,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0001:Pcdhb11
|
UTSW |
18 |
37,557,042 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0383:Pcdhb11
|
UTSW |
18 |
37,556,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Pcdhb11
|
UTSW |
18 |
37,555,533 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0422:Pcdhb11
|
UTSW |
18 |
37,554,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Pcdhb11
|
UTSW |
18 |
37,555,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Pcdhb11
|
UTSW |
18 |
37,556,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0620:Pcdhb11
|
UTSW |
18 |
37,554,864 (GRCm39) |
nonsense |
probably null |
|
|
R1014:Pcdhb11
|
UTSW |
18 |
37,556,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1277:Pcdhb11
|
UTSW |
18 |
37,554,769 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2034:Pcdhb11
|
UTSW |
18 |
37,555,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2142:Pcdhb11
|
UTSW |
18 |
37,555,176 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2496:Pcdhb11
|
UTSW |
18 |
37,555,375 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3077:Pcdhb11
|
UTSW |
18 |
37,555,297 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4560:Pcdhb11
|
UTSW |
18 |
37,556,787 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4590:Pcdhb11
|
UTSW |
18 |
37,555,549 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4642:Pcdhb11
|
UTSW |
18 |
37,555,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4729:Pcdhb11
|
UTSW |
18 |
37,555,419 (GRCm39) |
nonsense |
probably null |
|
|
R5012:Pcdhb11
|
UTSW |
18 |
37,556,029 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5364:Pcdhb11
|
UTSW |
18 |
37,555,232 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5910:Pcdhb11
|
UTSW |
18 |
37,556,796 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6023:Pcdhb11
|
UTSW |
18 |
37,555,978 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6106:Pcdhb11
|
UTSW |
18 |
37,556,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6254:Pcdhb11
|
UTSW |
18 |
37,554,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6276:Pcdhb11
|
UTSW |
18 |
37,554,813 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6360:Pcdhb11
|
UTSW |
18 |
37,555,212 (GRCm39) |
missense |
probably benign |
|
|
R6699:Pcdhb11
|
UTSW |
18 |
37,555,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6732:Pcdhb11
|
UTSW |
18 |
37,555,197 (GRCm39) |
missense |
probably benign |
|
|
R6760:Pcdhb11
|
UTSW |
18 |
37,554,637 (GRCm39) |
intron |
probably benign |
|
|
R6916:Pcdhb11
|
UTSW |
18 |
37,555,434 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7130:Pcdhb11
|
UTSW |
18 |
37,556,559 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7267:Pcdhb11
|
UTSW |
18 |
37,555,006 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7426:Pcdhb11
|
UTSW |
18 |
37,556,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7444:Pcdhb11
|
UTSW |
18 |
37,555,672 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7492:Pcdhb11
|
UTSW |
18 |
37,556,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7504:Pcdhb11
|
UTSW |
18 |
37,554,852 (GRCm39) |
missense |
probably benign |
|
|
R7537:Pcdhb11
|
UTSW |
18 |
37,554,672 (GRCm39) |
start codon destroyed |
possibly damaging |
0.88 |
|
R7728:Pcdhb11
|
UTSW |
18 |
37,556,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Pcdhb11
|
UTSW |
18 |
37,556,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8071:Pcdhb11
|
UTSW |
18 |
37,555,422 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8229:Pcdhb11
|
UTSW |
18 |
37,555,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8254:Pcdhb11
|
UTSW |
18 |
37,555,242 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8356:Pcdhb11
|
UTSW |
18 |
37,555,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8739:Pcdhb11
|
UTSW |
18 |
37,555,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8957:Pcdhb11
|
UTSW |
18 |
37,554,692 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8964:Pcdhb11
|
UTSW |
18 |
37,556,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8966:Pcdhb11
|
UTSW |
18 |
37,556,037 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9188:Pcdhb11
|
UTSW |
18 |
37,556,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:Pcdhb11
|
UTSW |
18 |
37,554,529 (GRCm39) |
intron |
probably benign |
|
|
R9632:Pcdhb11
|
UTSW |
18 |
37,556,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGAATGACAACGCTCCAG -3'
(R):5'- TGATGGTGCCTATCTGCAGG -3'
Sequencing Primer
(F):5'- ACGCTCCAGAGTTGATGATC -3'
(R):5'- GTTCTCTTGCACAAACAGGG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation