Incidental Mutation 'R2034:Pcdhb11'
ID |
224395 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb11
|
Ensembl Gene |
ENSMUSG00000051486 |
Gene Name |
protocadherin beta 11 |
Synonyms |
PcdhbK, Pcdhb5E |
MMRRC Submission |
040041-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R2034 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37554471-37558085 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37555546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 292
(V292A)
|
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: V292A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000056148 Gene: ENSMUSG00000051486 AA Change: V292A
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810408A11Rik |
T |
C |
11: 69,791,385 (GRCm39) |
I65V |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,242,628 (GRCm39) |
N1497S |
possibly damaging |
Het |
Afmid |
C |
A |
11: 117,726,061 (GRCm39) |
N184K |
probably benign |
Het |
Ampd2 |
A |
T |
3: 107,984,679 (GRCm39) |
I459N |
possibly damaging |
Het |
Anapc1 |
T |
C |
2: 128,490,378 (GRCm39) |
D1018G |
possibly damaging |
Het |
Ano9 |
T |
A |
7: 140,688,048 (GRCm39) |
I223F |
probably damaging |
Het |
B3gnt6 |
A |
G |
7: 97,843,225 (GRCm39) |
L245P |
possibly damaging |
Het |
Bag6 |
G |
A |
17: 35,363,668 (GRCm39) |
R784Q |
probably damaging |
Het |
Brca1 |
C |
G |
11: 101,380,675 (GRCm39) |
S1786T |
probably benign |
Het |
Btbd3 |
T |
G |
2: 138,120,903 (GRCm39) |
S26A |
probably benign |
Het |
Cacna1d |
C |
A |
14: 29,811,820 (GRCm39) |
V1277L |
probably damaging |
Het |
Casp12 |
C |
T |
9: 5,346,491 (GRCm39) |
T6I |
probably damaging |
Het |
Col7a1 |
T |
C |
9: 108,792,075 (GRCm39) |
V1262A |
unknown |
Het |
Crh |
C |
A |
3: 19,748,262 (GRCm39) |
G127C |
probably damaging |
Het |
D5Ertd579e |
A |
T |
5: 36,770,882 (GRCm39) |
L64* |
probably null |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Ddc |
T |
A |
11: 11,830,456 (GRCm39) |
I63L |
probably benign |
Het |
Eif3a |
C |
T |
19: 60,750,568 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,819,838 (GRCm39) |
N5190K |
probably benign |
Het |
Gm5420 |
A |
G |
10: 21,567,512 (GRCm39) |
|
noncoding transcript |
Het |
Grb14 |
A |
G |
2: 64,753,873 (GRCm39) |
|
probably benign |
Het |
Gsap |
A |
T |
5: 21,475,593 (GRCm39) |
I545F |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,803,899 (GRCm39) |
|
probably null |
Het |
Helz2 |
G |
A |
2: 180,874,371 (GRCm39) |
P2041L |
probably damaging |
Het |
Herc1 |
G |
A |
9: 66,349,254 (GRCm39) |
A2038T |
probably benign |
Het |
Il10 |
C |
A |
1: 130,951,922 (GRCm39) |
Q152K |
probably benign |
Het |
Klrg1 |
A |
G |
6: 122,256,596 (GRCm39) |
|
probably null |
Het |
Lrig2 |
T |
C |
3: 104,401,408 (GRCm39) |
T160A |
probably benign |
Het |
Mmd2 |
A |
T |
5: 142,560,939 (GRCm39) |
|
probably null |
Het |
Mmp2 |
C |
T |
8: 93,563,540 (GRCm39) |
S338F |
probably damaging |
Het |
Nalcn |
T |
G |
14: 123,521,015 (GRCm39) |
D1630A |
probably benign |
Het |
Ncoa2 |
T |
C |
1: 13,235,207 (GRCm39) |
S909G |
probably benign |
Het |
Neb |
A |
T |
2: 52,170,623 (GRCm39) |
M1683K |
possibly damaging |
Het |
Nfe2l3 |
A |
G |
6: 51,435,350 (GRCm39) |
I637V |
possibly damaging |
Het |
Npw |
G |
A |
17: 24,877,242 (GRCm39) |
S53F |
probably damaging |
Het |
Nrbf2 |
A |
T |
10: 67,111,343 (GRCm39) |
|
probably benign |
Het |
Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
Nup188 |
T |
A |
2: 30,200,097 (GRCm39) |
|
probably benign |
Het |
Or4k15c |
T |
C |
14: 50,321,440 (GRCm39) |
M233V |
probably benign |
Het |
Or5b21 |
T |
A |
19: 12,839,151 (GRCm39) |
M4K |
possibly damaging |
Het |
Parp4 |
A |
T |
14: 56,871,720 (GRCm39) |
I1133F |
probably damaging |
Het |
Pcnx2 |
A |
G |
8: 126,545,406 (GRCm39) |
|
probably null |
Het |
Phf2 |
A |
G |
13: 48,971,206 (GRCm39) |
S489P |
unknown |
Het |
Pik3r5 |
T |
A |
11: 68,384,403 (GRCm39) |
N598K |
probably damaging |
Het |
Pikfyve |
A |
T |
1: 65,261,516 (GRCm39) |
E432D |
probably damaging |
Het |
Pink1 |
T |
C |
4: 138,045,343 (GRCm39) |
I274V |
possibly damaging |
Het |
Pkhd1 |
G |
A |
1: 20,270,893 (GRCm39) |
T3220I |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,462,902 (GRCm39) |
I890V |
probably benign |
Het |
Pomgnt1 |
T |
C |
4: 116,015,124 (GRCm39) |
V492A |
possibly damaging |
Het |
Prp2 |
G |
T |
6: 132,572,947 (GRCm39) |
|
probably null |
Het |
Rabl6 |
T |
C |
2: 25,475,444 (GRCm39) |
E543G |
possibly damaging |
Het |
Rgp1 |
T |
A |
4: 43,581,605 (GRCm39) |
|
probably null |
Het |
Rps6kb2 |
T |
C |
19: 4,211,106 (GRCm39) |
T140A |
probably damaging |
Het |
S100a11 |
T |
C |
3: 93,433,429 (GRCm39) |
I91T |
probably benign |
Het |
Serpine2 |
A |
G |
1: 79,774,569 (GRCm39) |
L230P |
probably damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,120,737 (GRCm39) |
D370G |
probably damaging |
Het |
Sim2 |
A |
C |
16: 93,886,801 (GRCm39) |
I43L |
probably damaging |
Het |
Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
Slc14a2 |
A |
G |
18: 78,226,798 (GRCm39) |
L419P |
probably damaging |
Het |
Srgap1 |
C |
T |
10: 121,628,651 (GRCm39) |
E817K |
probably damaging |
Het |
Stag3 |
A |
G |
5: 138,296,263 (GRCm39) |
E442G |
possibly damaging |
Het |
Sulf1 |
A |
G |
1: 12,890,645 (GRCm39) |
N361S |
probably damaging |
Het |
Tmco6 |
A |
G |
18: 36,870,909 (GRCm39) |
|
probably null |
Het |
Tmem104 |
T |
A |
11: 115,134,373 (GRCm39) |
I303N |
probably benign |
Het |
Ttll6 |
G |
T |
11: 96,026,352 (GRCm39) |
D86Y |
probably damaging |
Het |
Tut4 |
C |
T |
4: 108,369,392 (GRCm39) |
R651W |
probably damaging |
Het |
Vmn1r120 |
T |
G |
7: 20,786,883 (GRCm39) |
E276A |
possibly damaging |
Het |
Vmn1r64 |
A |
G |
7: 5,886,988 (GRCm39) |
M185T |
probably benign |
Het |
Vmn2r85 |
A |
T |
10: 130,262,242 (GRCm39) |
|
probably benign |
Het |
Vwa3a |
A |
T |
7: 120,381,868 (GRCm39) |
K568* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGTGGACATCAATGATAACGCC -3'
(R):5'- ACAGCAACTACAGTCTCGGC -3'
Sequencing Primer
(F):5'- CCCCCAGTTTATACAGTCACTCTATG -3'
(R):5'- AACTACAGTCTCGGCGGAATTTTC -3'
|
Posted On |
2014-08-25 |