Incidental Mutation 'R7537:Pcdhb11'
| ID |
583683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb11
|
| Ensembl Gene |
ENSMUSG00000051486 |
| Gene Name |
protocadherin beta 11 |
| Synonyms |
PcdhbK, Pcdhb5E |
| MMRRC Submission |
045609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R7537 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37554471-37558085 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 37554672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
| 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: M1L
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: M1L
| 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 |
0.8367 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,967,637 (GRCm39) |
L2229P |
possibly damaging |
Het |
| Acaca |
T |
A |
11: 84,151,460 (GRCm39) |
M786K |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adap1 |
T |
G |
5: 139,278,928 (GRCm39) |
E117D |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,463,053 (GRCm39) |
S746P |
probably benign |
Het |
| Appl2 |
A |
G |
10: 83,453,292 (GRCm39) |
I208T |
possibly damaging |
Het |
| Astn1 |
A |
G |
1: 158,332,956 (GRCm39) |
E346G |
possibly damaging |
Het |
| Astn1 |
G |
A |
1: 158,495,208 (GRCm39) |
|
probably null |
Het |
| Atp23 |
T |
A |
10: 126,704,594 (GRCm39) |
I180L |
unknown |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
A |
T |
10: 60,220,724 (GRCm39) |
I1340N |
probably benign |
Het |
| Cdh8 |
G |
A |
8: 99,825,517 (GRCm39) |
Q493* |
probably null |
Het |
| Ces1g |
T |
C |
8: 94,046,455 (GRCm39) |
I357V |
probably benign |
Het |
| Ddx46 |
A |
G |
13: 55,798,291 (GRCm39) |
D226G |
probably damaging |
Het |
| Eea1 |
C |
T |
10: 95,830,767 (GRCm39) |
Q143* |
probably null |
Het |
| Erlin2 |
G |
T |
8: 27,521,800 (GRCm39) |
|
probably null |
Het |
| Fat3 |
T |
A |
9: 15,849,615 (GRCm39) |
D3929V |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,271,247 (GRCm39) |
D898G |
probably damaging |
Het |
| Gm16519 |
A |
G |
17: 71,236,351 (GRCm39) |
N100S |
probably benign |
Het |
| Gnl1 |
A |
G |
17: 36,299,428 (GRCm39) |
H533R |
probably damaging |
Het |
| Gphn |
A |
G |
12: 78,551,454 (GRCm39) |
T301A |
possibly damaging |
Het |
| Herc2 |
C |
T |
7: 55,869,527 (GRCm39) |
R4295* |
probably null |
Het |
| Insm2 |
T |
C |
12: 55,646,303 (GRCm39) |
S16P |
possibly damaging |
Het |
| Jak2 |
C |
T |
19: 29,276,037 (GRCm39) |
T778I |
probably benign |
Het |
| Lrriq3 |
A |
G |
3: 154,806,734 (GRCm39) |
T128A |
probably damaging |
Het |
| Lst1 |
A |
G |
17: 35,405,920 (GRCm39) |
|
probably null |
Het |
| Magi1 |
G |
T |
6: 93,685,091 (GRCm39) |
Y762* |
probably null |
Het |
| Man2b1 |
T |
A |
8: 85,817,594 (GRCm39) |
C358* |
probably null |
Het |
| Mga |
T |
C |
2: 119,766,032 (GRCm39) |
V1432A |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Morc2a |
C |
T |
11: 3,633,566 (GRCm39) |
Q587* |
probably null |
Het |
| Mrc2 |
T |
C |
11: 105,183,623 (GRCm39) |
I4T |
probably benign |
Het |
| Muc16 |
C |
A |
9: 18,549,431 (GRCm39) |
V5621F |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,047,513 (GRCm39) |
R340G |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,218,248 (GRCm39) |
Y34C |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,578,345 (GRCm39) |
D804E |
unknown |
Het |
| Nlrp4b |
A |
G |
7: 10,448,816 (GRCm39) |
M340V |
probably benign |
Het |
| Or1e26 |
T |
A |
11: 73,480,094 (GRCm39) |
T157S |
probably benign |
Het |
| Or2ag2b |
G |
A |
7: 106,417,581 (GRCm39) |
C97Y |
probably damaging |
Het |
| Or56a41 |
A |
T |
7: 104,741,978 (GRCm39) |
M16K |
probably benign |
Het |
| Or5al5 |
A |
G |
2: 85,961,608 (GRCm39) |
V133A |
probably benign |
Het |
| Pard3 |
T |
A |
8: 128,337,063 (GRCm39) |
N1271K |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,732,118 (GRCm39) |
V3540A |
unknown |
Het |
| Pemt |
A |
G |
11: 59,867,670 (GRCm39) |
F154S |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Rnpc3 |
G |
T |
3: 113,407,481 (GRCm39) |
T376K |
probably benign |
Het |
| Rpe65 |
A |
G |
3: 159,310,246 (GRCm39) |
Y143C |
probably damaging |
Het |
| Sbk2 |
T |
C |
7: 4,966,148 (GRCm39) |
E12G |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,213,526 (GRCm39) |
I106T |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,135,981 (GRCm39) |
D92G |
probably damaging |
Het |
| Sorl1 |
C |
T |
9: 41,891,984 (GRCm39) |
V1889I |
probably benign |
Het |
| Spag17 |
A |
T |
3: 99,846,563 (GRCm39) |
N29I |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,378,108 (GRCm39) |
V878A |
probably damaging |
Het |
| Timp4 |
A |
G |
6: 115,227,421 (GRCm39) |
S53P |
probably damaging |
Het |
| Tssk1 |
G |
T |
16: 17,712,948 (GRCm39) |
E244D |
probably benign |
Het |
| Usp29 |
A |
C |
7: 6,964,219 (GRCm39) |
T21P |
possibly damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,258,735 (GRCm39) |
V440E |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,217,001 (GRCm39) |
D270G |
|
Het |
| Zbbx |
G |
A |
3: 74,992,826 (GRCm39) |
P223S |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,239 (GRCm39) |
C235* |
probably null |
Het |
| Zranb3 |
A |
T |
1: 127,960,584 (GRCm39) |
|
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 |
|
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 |
|
|
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'- AGAATGAGCTCTGCAGACACC -3'
(R):5'- CTAGTGGCCAGTTCTCCAAC -3'
Sequencing Primer
(F):5'- AGGAAGCCATCTCATTAAGTCG -3'
(R):5'- GCCAGTTCTCCAACCCTGAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation