Incidental Mutation 'R6916:Pcdhb11'
ID |
539379 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb11
|
Ensembl Gene |
ENSMUSG00000051486 |
Gene Name |
protocadherin beta 11 |
Synonyms |
PcdhbK, Pcdhb5E |
MMRRC Submission |
045037-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R6916 (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 T
at 37555434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 255
(S255C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053073]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
Q91UZ8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053073
AA Change: S255C
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000056148 Gene: ENSMUSG00000051486 AA Change: S255C
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 |
0.1452 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,211,318 (GRCm39) |
I684K |
possibly damaging |
Het |
Abcg3 |
T |
A |
5: 105,122,601 (GRCm39) |
R97S |
probably benign |
Het |
Acin1 |
A |
T |
14: 54,902,873 (GRCm39) |
F160L |
probably benign |
Het |
Aoc1l2 |
T |
A |
6: 48,907,987 (GRCm39) |
I329N |
probably benign |
Het |
Asb10 |
T |
C |
5: 24,742,854 (GRCm39) |
D293G |
probably damaging |
Het |
Atp6v1c1 |
T |
C |
15: 38,677,825 (GRCm39) |
S117P |
probably benign |
Het |
Bahcc1 |
T |
A |
11: 120,163,835 (GRCm39) |
V711E |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,799,120 (GRCm39) |
S335T |
probably benign |
Het |
Bdkrb2 |
C |
T |
12: 105,558,038 (GRCm39) |
A93V |
probably damaging |
Het |
Cacna1d |
A |
T |
14: 29,817,321 (GRCm39) |
V1247D |
probably damaging |
Het |
Cenpb |
A |
C |
2: 131,021,544 (GRCm39) |
F85V |
probably benign |
Het |
Cep112 |
C |
A |
11: 108,750,202 (GRCm39) |
Q142K |
probably damaging |
Het |
Ciita |
T |
A |
16: 10,327,071 (GRCm39) |
|
probably null |
Het |
Cnr1 |
A |
G |
4: 33,943,897 (GRCm39) |
D95G |
probably benign |
Het |
Ctnnd1 |
A |
T |
2: 84,439,990 (GRCm39) |
D767E |
probably benign |
Het |
Ddx20 |
T |
C |
3: 105,587,929 (GRCm39) |
N384D |
probably damaging |
Het |
Dnaaf3 |
T |
A |
7: 4,530,532 (GRCm39) |
D191V |
probably damaging |
Het |
Efna1 |
T |
C |
3: 89,183,695 (GRCm39) |
N44D |
possibly damaging |
Het |
Errfi1 |
A |
T |
4: 150,951,930 (GRCm39) |
K453* |
probably null |
Het |
Fam149a |
C |
A |
8: 45,803,443 (GRCm39) |
K349N |
probably damaging |
Het |
Fbxl20 |
T |
A |
11: 98,004,079 (GRCm39) |
I70L |
possibly damaging |
Het |
Flnb |
C |
T |
14: 7,907,171 (GRCm38) |
T1248I |
probably damaging |
Het |
Frem2 |
T |
C |
3: 53,455,109 (GRCm39) |
R2156G |
probably damaging |
Het |
Ftl1 |
T |
C |
7: 45,108,964 (GRCm39) |
Y31C |
probably damaging |
Het |
Gm5862 |
G |
T |
5: 26,224,346 (GRCm39) |
H208N |
probably benign |
Het |
Hc |
A |
T |
2: 34,900,044 (GRCm39) |
Y1096* |
probably null |
Het |
Hps1 |
ATCCTCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
19: 42,755,164 (GRCm39) |
|
|
Het |
Ints3 |
T |
C |
3: 90,313,641 (GRCm39) |
D329G |
probably damaging |
Het |
Irak3 |
A |
T |
10: 120,037,270 (GRCm39) |
L32Q |
probably damaging |
Het |
Kifbp |
T |
C |
10: 62,401,843 (GRCm39) |
T20A |
probably benign |
Het |
Klrb1f |
A |
T |
6: 129,030,774 (GRCm39) |
D95V |
probably benign |
Het |
Krt79 |
C |
T |
15: 101,844,605 (GRCm39) |
D260N |
probably benign |
Het |
Lrp11 |
C |
A |
10: 7,484,478 (GRCm39) |
|
probably null |
Het |
Lrrc10 |
C |
A |
10: 116,881,454 (GRCm39) |
R43S |
possibly damaging |
Het |
Muc5b |
A |
T |
7: 141,418,454 (GRCm39) |
Y3800F |
possibly damaging |
Het |
Myh14 |
T |
C |
7: 44,278,737 (GRCm39) |
K1003E |
probably damaging |
Het |
Nbeal2 |
A |
G |
9: 110,455,176 (GRCm39) |
I2567T |
probably damaging |
Het |
Necab2 |
G |
T |
8: 120,194,355 (GRCm39) |
R277L |
probably damaging |
Het |
Nell1 |
T |
C |
7: 50,350,927 (GRCm39) |
Y525H |
probably benign |
Het |
Olfm4 |
T |
A |
14: 80,251,638 (GRCm39) |
M186K |
probably damaging |
Het |
Or10d1c |
T |
C |
9: 38,894,200 (GRCm39) |
I47V |
probably benign |
Het |
Or1e29 |
T |
A |
11: 73,667,895 (GRCm39) |
Q86L |
probably benign |
Het |
Or2h2b-ps1 |
T |
C |
17: 37,480,864 (GRCm39) |
K225R |
probably benign |
Het |
Rrbp1 |
A |
T |
2: 143,816,518 (GRCm39) |
C704S |
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Sh2d3c |
C |
T |
2: 32,642,665 (GRCm39) |
R552* |
probably null |
Het |
Sh3d19 |
A |
G |
3: 85,992,218 (GRCm39) |
E82G |
probably benign |
Het |
Son |
T |
A |
16: 91,451,673 (GRCm39) |
L140Q |
probably damaging |
Het |
Svil |
G |
A |
18: 5,114,682 (GRCm39) |
|
probably benign |
Het |
Syne1 |
T |
C |
10: 5,177,912 (GRCm39) |
K4854R |
probably benign |
Het |
Tlcd4 |
T |
C |
3: 121,000,805 (GRCm39) |
D276G |
possibly damaging |
Het |
Tmem202 |
C |
A |
9: 59,432,757 (GRCm39) |
|
probably benign |
Het |
Trak2 |
T |
C |
1: 58,949,184 (GRCm39) |
T539A |
probably benign |
Het |
Trdn |
T |
C |
10: 33,033,014 (GRCm39) |
S80P |
probably damaging |
Het |
Ugt2b37 |
T |
A |
5: 87,402,459 (GRCm39) |
R57S |
probably benign |
Het |
Usp34 |
G |
A |
11: 23,408,023 (GRCm39) |
R2616Q |
probably damaging |
Het |
Usp48 |
T |
C |
4: 137,365,544 (GRCm39) |
Y113H |
probably damaging |
Het |
Vtcn1 |
G |
T |
3: 100,795,479 (GRCm39) |
|
probably null |
Het |
Wdr19 |
G |
A |
5: 65,382,677 (GRCm39) |
R467Q |
possibly damaging |
Het |
Wdr72 |
A |
G |
9: 74,062,321 (GRCm39) |
Y489C |
probably benign |
Het |
Wipf1 |
C |
A |
2: 73,267,748 (GRCm39) |
G217W |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACGTCATTACTCACAGTCG -3'
(R):5'- GCTAATTCCCTCGAAATCCAGC -3'
Sequencing Primer
(F):5'- ATTACTCACAGTCGCTCAGATGG -3'
(R):5'- GCTCTTTGCTAAGACGGATTTC -3'
|
Posted On |
2018-11-06 |