Incidental Mutation 'R6276:Pcdhb11'
| ID |
507683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb11
|
| Ensembl Gene |
ENSMUSG00000051486 |
| Gene Name |
protocadherin beta 11 |
| Synonyms |
PcdhbK, Pcdhb5E |
| MMRRC Submission |
044446-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6276 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37554471-37558085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37554813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 48
(V48M)
|
| 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: V48M
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: V48M
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
T |
1: 125,322,874 (GRCm39) |
D364E |
probably benign |
Het |
| Adra2c |
C |
T |
5: 35,437,423 (GRCm39) |
T65I |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 126,925,229 (GRCm39) |
|
probably null |
Het |
| Ager |
T |
C |
17: 34,817,728 (GRCm39) |
V126A |
possibly damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,621,736 (GRCm39) |
I288M |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,862,068 (GRCm39) |
S541C |
probably benign |
Het |
| Asb4 |
A |
G |
6: 5,431,043 (GRCm39) |
Y426C |
probably damaging |
Het |
| Azi2 |
C |
T |
9: 117,878,406 (GRCm39) |
T82I |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,778,567 (GRCm39) |
R764S |
probably damaging |
Het |
| Ccdc146 |
A |
C |
5: 21,506,338 (GRCm39) |
I701S |
probably damaging |
Het |
| Ccnq |
T |
C |
11: 78,642,056 (GRCm39) |
K145E |
probably damaging |
Het |
| Cd55b |
T |
A |
1: 130,345,903 (GRCm39) |
I172F |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,718,647 (GRCm39) |
E199G |
probably benign |
Het |
| Cntnap4 |
A |
T |
8: 113,478,921 (GRCm39) |
T216S |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,761,858 (GRCm39) |
N1336K |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,214,636 (GRCm39) |
N649S |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,979,653 (GRCm39) |
E96G |
probably benign |
Het |
| Dscaml1 |
C |
T |
9: 45,579,458 (GRCm39) |
T335I |
possibly damaging |
Het |
| Epb41l2 |
G |
T |
10: 25,378,022 (GRCm39) |
G695C |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,599,735 (GRCm39) |
R114H |
probably damaging |
Het |
| F2rl1 |
G |
T |
13: 95,650,446 (GRCm39) |
Y145* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,810,785 (GRCm39) |
Y2368F |
possibly damaging |
Het |
| Galnt7 |
C |
T |
8: 57,989,612 (GRCm39) |
|
probably null |
Het |
| Garre1 |
A |
T |
7: 33,941,802 (GRCm39) |
Y627* |
probably null |
Het |
| Gm6811 |
T |
A |
17: 21,314,245 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6811 |
T |
G |
17: 21,314,952 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M1 |
G |
A |
17: 36,982,602 (GRCm39) |
T86M |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,720,347 (GRCm39) |
D170G |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,614,432 (GRCm39) |
A1325T |
possibly damaging |
Het |
| Insrr |
T |
A |
3: 87,707,826 (GRCm39) |
Y89* |
probably null |
Het |
| Itga1 |
T |
C |
13: 115,117,388 (GRCm39) |
E871G |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,429,421 (GRCm39) |
L1592P |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,500,979 (GRCm39) |
A756E |
probably benign |
Het |
| Krt12 |
A |
T |
11: 99,312,728 (GRCm39) |
C105* |
probably null |
Het |
| Lama1 |
G |
A |
17: 68,091,083 (GRCm39) |
|
probably null |
Het |
| Lama3 |
A |
G |
18: 12,640,006 (GRCm39) |
N67S |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,956,587 (GRCm39) |
|
probably null |
Het |
| Lypd9 |
T |
A |
11: 58,337,192 (GRCm39) |
I94L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,438,578 (GRCm39) |
V34A |
probably damaging |
Het |
| Mroh6 |
A |
G |
15: 75,757,549 (GRCm39) |
L487P |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 112,959,508 (GRCm39) |
S1430T |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,373,723 (GRCm39) |
T495I |
probably benign |
Het |
| Or1e31 |
A |
T |
11: 73,690,229 (GRCm39) |
M118K |
probably damaging |
Het |
| Palld |
C |
T |
8: 61,966,457 (GRCm39) |
A980T |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,966,666 (GRCm39) |
I620N |
probably damaging |
Het |
| Pcdha6 |
A |
G |
18: 37,102,820 (GRCm39) |
|
probably null |
Het |
| Pcdhga6 |
A |
G |
18: 37,840,697 (GRCm39) |
E139G |
probably benign |
Het |
| Pck1 |
T |
C |
2: 172,999,112 (GRCm39) |
V426A |
probably damaging |
Het |
| Pck2 |
T |
A |
14: 55,780,081 (GRCm39) |
I110N |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phactr3 |
G |
A |
2: 177,920,812 (GRCm39) |
E222K |
probably damaging |
Het |
| Ppip5k1 |
A |
T |
2: 121,153,684 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,206,076 (GRCm39) |
H278R |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,349,886 (GRCm39) |
H91Q |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Smn1 |
A |
G |
13: 100,264,503 (GRCm39) |
N78S |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,046,078 (GRCm39) |
I1614N |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,033,513 (GRCm39) |
D165G |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,448,766 (GRCm39) |
Y593C |
probably damaging |
Het |
| Tcaf2 |
G |
C |
6: 42,606,687 (GRCm39) |
F422L |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,067,217 (GRCm39) |
F2216I |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,225,441 (GRCm39) |
E846G |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,580,313 (GRCm39) |
I753T |
probably benign |
Het |
| Vdac1 |
C |
T |
11: 52,267,309 (GRCm39) |
T70M |
possibly damaging |
Het |
| Vmn1r124 |
A |
C |
7: 20,994,104 (GRCm39) |
F147V |
probably benign |
Het |
| Vmn1r220 |
T |
C |
13: 23,368,465 (GRCm39) |
D77G |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,493,730 (GRCm39) |
H72R |
probably benign |
Het |
| Vmn2r78 |
A |
T |
7: 86,570,318 (GRCm39) |
I279L |
probably benign |
Het |
| Vmn2r95 |
G |
T |
17: 18,671,732 (GRCm39) |
A490S |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,831,482 (GRCm39) |
A915T |
possibly damaging |
Het |
| Zmiz2 |
G |
T |
11: 6,345,604 (GRCm39) |
|
probably null |
Het |
| Zscan2 |
A |
G |
7: 80,525,557 (GRCm39) |
N426S |
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 |
|
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 |
|
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'- GTGGACTGTAATCAACCAGAAGC -3'
(R):5'- GAACTGCACAGGGTTTTCCAG -3'
Sequencing Primer
(F):5'- GAAGCAGCAGCACCCTCTG -3'
(R):5'- GCACAGGGTTTTCCAGTATGACC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation