Incidental Mutation 'IGL01973:Pcdhb11'
| ID |
182570 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcdhb11
|
| Ensembl Gene |
ENSMUSG00000051486 |
| Gene Name |
protocadherin beta 11 |
| Synonyms |
PcdhbK, Pcdhb5E |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL01973
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37554471-37558085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37556565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 632
(R632S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053073]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91UZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053073
AA Change: R632S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: R632S
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
A |
G |
12: 17,061,172 (GRCm39) |
W59R |
probably damaging |
Het |
| Adam17 |
C |
T |
12: 21,399,944 (GRCm39) |
R154K |
probably damaging |
Het |
| Ajm1 |
G |
T |
2: 25,469,584 (GRCm39) |
S109* |
probably null |
Het |
| Atp9b |
A |
T |
18: 80,801,518 (GRCm39) |
F791I |
probably benign |
Het |
| Atr |
T |
G |
9: 95,753,727 (GRCm39) |
S776R |
probably damaging |
Het |
| AW554918 |
A |
T |
18: 25,553,056 (GRCm39) |
T487S |
probably damaging |
Het |
| Bckdhb |
T |
A |
9: 83,873,789 (GRCm39) |
F217Y |
probably benign |
Het |
| Cacna1i |
G |
A |
15: 80,266,234 (GRCm39) |
A1574T |
probably damaging |
Het |
| Ccdc150 |
G |
A |
1: 54,339,647 (GRCm39) |
|
probably null |
Het |
| Clca4c-ps |
A |
T |
3: 144,585,593 (GRCm39) |
|
noncoding transcript |
Het |
| Clec4a1 |
T |
C |
6: 122,907,680 (GRCm39) |
S123P |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,940,093 (GRCm39) |
Y1279C |
probably damaging |
Het |
| Cox8c |
T |
A |
12: 102,865,626 (GRCm39) |
M1K |
probably null |
Het |
| Crat |
G |
T |
2: 30,295,493 (GRCm39) |
S370Y |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,503,414 (GRCm39) |
D183E |
probably benign |
Het |
| Cyp1a2 |
C |
A |
9: 57,589,678 (GRCm39) |
W45C |
probably damaging |
Het |
| Eml5 |
T |
A |
12: 98,829,539 (GRCm39) |
I492L |
probably benign |
Het |
| Fbxl4 |
T |
G |
4: 22,422,766 (GRCm39) |
L456R |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,620,699 (GRCm39) |
H148Q |
probably benign |
Het |
| Galnt3 |
T |
C |
2: 65,914,606 (GRCm39) |
M604V |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,518,731 (GRCm39) |
V279A |
probably damaging |
Het |
| Heatr1 |
C |
A |
13: 12,444,680 (GRCm39) |
H1543Q |
probably benign |
Het |
| Ighg2b |
C |
T |
12: 113,271,305 (GRCm39) |
V83I |
unknown |
Het |
| Jcad |
A |
G |
18: 4,675,514 (GRCm39) |
Q1092R |
probably benign |
Het |
| Kirrel3 |
A |
G |
9: 34,927,764 (GRCm39) |
E6G |
probably damaging |
Het |
| Klhl22 |
A |
G |
16: 17,610,575 (GRCm39) |
S609G |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,904,021 (GRCm39) |
Y346C |
probably damaging |
Het |
| Maneal |
T |
C |
4: 124,752,948 (GRCm39) |
D233G |
probably benign |
Het |
| Mcm3ap |
T |
C |
10: 76,306,951 (GRCm39) |
S355P |
probably benign |
Het |
| Mtus2 |
C |
T |
5: 148,240,286 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,575,383 (GRCm39) |
T1380A |
probably benign |
Het |
| Nedd4 |
T |
A |
9: 72,644,216 (GRCm39) |
M661K |
possibly damaging |
Het |
| Nomo1 |
T |
C |
7: 45,732,651 (GRCm39) |
|
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,689 (GRCm39) |
I98T |
probably benign |
Het |
| Ntsr2 |
T |
A |
12: 16,706,775 (GRCm39) |
W268R |
probably benign |
Het |
| Nup188 |
A |
C |
2: 30,229,862 (GRCm39) |
Q1360P |
possibly damaging |
Het |
| Or2c1 |
A |
T |
16: 3,657,641 (GRCm39) |
Q268L |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,099 (GRCm39) |
F161S |
probably damaging |
Het |
| Pabpc1 |
A |
T |
15: 36,599,519 (GRCm39) |
V392E |
probably benign |
Het |
| Phf11 |
A |
G |
14: 59,488,578 (GRCm39) |
V73A |
probably benign |
Het |
| Pnpla6 |
T |
A |
8: 3,567,619 (GRCm39) |
M87K |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,413,162 (GRCm39) |
G670R |
probably damaging |
Het |
| Raf1 |
G |
A |
6: 115,653,530 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,999,116 (GRCm39) |
|
probably null |
Het |
| Rnf215 |
A |
T |
11: 4,086,615 (GRCm39) |
H164L |
probably damaging |
Het |
| Slc24a3 |
T |
C |
2: 145,086,947 (GRCm39) |
V19A |
probably benign |
Het |
| Tbc1d16 |
A |
T |
11: 119,047,533 (GRCm39) |
V396E |
probably benign |
Het |
| Tecpr1 |
T |
C |
5: 144,134,806 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
T |
A |
7: 98,365,706 (GRCm39) |
Y625N |
possibly damaging |
Het |
| Tshz2 |
A |
T |
2: 169,726,603 (GRCm39) |
M400L |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,372,101 (GRCm39) |
Y850C |
possibly damaging |
Het |
| Ugt1a7c |
A |
G |
1: 88,022,856 (GRCm39) |
D5G |
probably benign |
Het |
| Vmn2r10 |
C |
T |
5: 109,143,543 (GRCm39) |
M802I |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,391,973 (GRCm39) |
Y220H |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,673,825 (GRCm39) |
M1625K |
probably damaging |
Het |
| Zfp677 |
T |
A |
17: 21,617,169 (GRCm39) |
N75K |
probably damaging |
Het |
| Zzz3 |
T |
C |
3: 152,134,007 (GRCm39) |
V355A |
probably benign |
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 |
|
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 |
37,555,872 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation