Incidental Mutation 'R6360:Pcdhb11'
| ID |
513098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb11
|
| Ensembl Gene |
ENSMUSG00000051486 |
| Gene Name |
protocadherin beta 11 |
| Synonyms |
PcdhbK, Pcdhb5E |
| MMRRC Submission |
044510-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R6360 (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 37555212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 181
(I181F)
|
| 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: I181F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: I181F
| 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: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
G |
A |
8: 77,985,831 (GRCm39) |
Q657* |
probably null |
Het |
| Car15 |
T |
C |
16: 17,655,930 (GRCm39) |
T560A |
probably benign |
Het |
| Cass4 |
C |
T |
2: 172,274,531 (GRCm39) |
H769Y |
probably damaging |
Het |
| Cdh6 |
A |
G |
15: 13,041,546 (GRCm39) |
I506T |
possibly damaging |
Het |
| Clstn3 |
G |
T |
6: 124,415,388 (GRCm39) |
R659S |
possibly damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,359,461 (GRCm39) |
R695* |
probably null |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Dab2ip |
A |
G |
2: 35,600,278 (GRCm39) |
H355R |
probably benign |
Het |
| Dennd2a |
C |
T |
6: 39,470,076 (GRCm39) |
A539T |
probably benign |
Het |
| Dnajc18 |
T |
C |
18: 35,819,762 (GRCm39) |
E173G |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,857,899 (GRCm39) |
I1472V |
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,574,931 (GRCm39) |
F714I |
probably damaging |
Het |
| Fam107a |
T |
G |
14: 8,299,619 (GRCm38) |
H73P |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,197,908 (GRCm39) |
|
probably benign |
Het |
| Fyn |
C |
A |
10: 39,402,879 (GRCm39) |
T217K |
possibly damaging |
Het |
| Gbp9 |
T |
C |
5: 105,231,596 (GRCm39) |
D330G |
probably benign |
Het |
| Gin1 |
T |
C |
1: 97,720,264 (GRCm39) |
S509P |
possibly damaging |
Het |
| Gm17067 |
A |
C |
7: 42,357,906 (GRCm39) |
S199A |
probably benign |
Het |
| Grk4 |
A |
T |
5: 34,831,881 (GRCm39) |
K50M |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,629,481 (GRCm39) |
H272R |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 109,626,336 (GRCm39) |
L48Q |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,191 (GRCm39) |
I515T |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,351,208 (GRCm39) |
S190R |
possibly damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,064,096 (GRCm39) |
N336S |
probably benign |
Het |
| Lbr |
G |
T |
1: 181,659,720 (GRCm39) |
D158E |
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,039,703 (GRCm39) |
Q89R |
probably benign |
Het |
| Nectin3 |
T |
A |
16: 46,231,472 (GRCm39) |
T21S |
probably benign |
Het |
| Numb |
C |
A |
12: 83,844,036 (GRCm39) |
R383L |
probably damaging |
Het |
| Or2p2 |
A |
T |
13: 21,256,753 (GRCm39) |
N239K |
probably damaging |
Het |
| Or9a7 |
G |
T |
6: 40,521,647 (GRCm39) |
Q89K |
possibly damaging |
Het |
| Pcgf2 |
T |
A |
11: 97,583,235 (GRCm39) |
|
probably null |
Het |
| Pdzd8 |
T |
C |
19: 59,289,415 (GRCm39) |
T662A |
probably benign |
Het |
| Pex13 |
A |
C |
11: 23,605,690 (GRCm39) |
V180G |
probably benign |
Het |
| Pira1 |
A |
T |
7: 3,739,503 (GRCm39) |
L455Q |
probably damaging |
Het |
| Pkp4 |
T |
A |
2: 59,045,091 (GRCm39) |
V22D |
probably benign |
Het |
| Prkn |
T |
C |
17: 12,222,939 (GRCm39) |
F363S |
probably damaging |
Het |
| Prpf4b |
A |
C |
13: 35,085,416 (GRCm39) |
D954A |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,720,125 (GRCm39) |
I317V |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,868 (GRCm39) |
S198P |
probably damaging |
Het |
| Rock1 |
A |
T |
18: 10,116,778 (GRCm39) |
C453S |
possibly damaging |
Het |
| Saxo4 |
T |
C |
19: 10,456,845 (GRCm39) |
N167D |
probably damaging |
Het |
| Scarf1 |
G |
T |
11: 75,406,495 (GRCm39) |
G260W |
probably damaging |
Het |
| Scyl1 |
T |
C |
19: 5,810,599 (GRCm39) |
E538G |
probably damaging |
Het |
| Sec14l5 |
A |
T |
16: 4,990,859 (GRCm39) |
I267F |
probably damaging |
Het |
| Senp6 |
T |
A |
9: 80,021,088 (GRCm39) |
V256D |
probably benign |
Het |
| Sf3b4 |
G |
A |
3: 96,084,044 (GRCm39) |
|
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,099,408 (GRCm39) |
|
probably null |
Het |
| Tas2r143 |
A |
C |
6: 42,377,769 (GRCm39) |
M200L |
probably benign |
Het |
| Tbc1d22a |
C |
T |
15: 86,098,830 (GRCm39) |
P19S |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,214,067 (GRCm39) |
F313L |
probably damaging |
Het |
| Tmc5 |
T |
A |
7: 118,233,189 (GRCm39) |
M1K |
probably null |
Het |
| Tnc |
T |
C |
4: 63,918,970 (GRCm39) |
Y1151C |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,468,866 (GRCm39) |
E285G |
probably damaging |
Het |
| Txndc11 |
C |
T |
16: 10,902,656 (GRCm39) |
V664M |
probably damaging |
Het |
| Ube2g1 |
A |
T |
11: 72,553,908 (GRCm39) |
N20Y |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,265,476 (GRCm39) |
I369L |
probably benign |
Het |
| Vwf |
A |
T |
6: 125,660,489 (GRCm39) |
T2666S |
probably benign |
Het |
| Yif1a |
A |
G |
19: 5,142,369 (GRCm39) |
M259V |
probably benign |
Het |
| Zbtb46 |
T |
C |
2: 181,033,248 (GRCm39) |
D471G |
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 |
|
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'- CTGCACTTCCAGGTCATACTG -3'
(R):5'- GCGTTATCATTGATGTCCACG -3'
Sequencing Primer
(F):5'- TGGAAAACCCTGTGCAGTTC -3'
(R):5'- GATGTCCACGACTTCAATGTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation