Incidental Mutation 'R0542:Pcdhb11'
| ID |
50014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb11
|
| Ensembl Gene |
ENSMUSG00000051486 |
| Gene Name |
protocadherin beta 11 |
| Synonyms |
PcdhbK, Pcdhb5E |
| MMRRC Submission |
038734-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R0542 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37554471-37558085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37556887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 739
(D739V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053073]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91UZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053073
AA Change: D739V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: D739V
| 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 |
0.3568 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
C |
A |
12: 70,210,269 (GRCm39) |
N71K |
possibly damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,564,854 (GRCm39) |
I242T |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,721,437 (GRCm39) |
S714P |
probably damaging |
Het |
| Agap3 |
G |
A |
5: 24,705,184 (GRCm39) |
R704Q |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,622,509 (GRCm39) |
R448G |
probably damaging |
Het |
| Anks1b |
T |
C |
10: 89,909,829 (GRCm39) |
|
probably benign |
Het |
| Caml |
A |
T |
13: 55,770,974 (GRCm39) |
Q24L |
possibly damaging |
Het |
| Cdc14b |
G |
A |
13: 64,391,497 (GRCm39) |
T124I |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,781,571 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,512,610 (GRCm39) |
|
probably null |
Het |
| Crispld1 |
T |
C |
1: 17,816,992 (GRCm39) |
V183A |
possibly damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,624,092 (GRCm39) |
N22S |
probably benign |
Het |
| Dhx40 |
C |
T |
11: 86,695,082 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
A |
18: 50,026,761 (GRCm39) |
D1956E |
probably benign |
Het |
| Dsc2 |
A |
G |
18: 20,184,283 (GRCm39) |
V35A |
probably damaging |
Het |
| Dync2i2 |
A |
G |
2: 29,921,837 (GRCm39) |
V508A |
probably damaging |
Het |
| Elovl2 |
A |
G |
13: 41,345,452 (GRCm39) |
|
probably benign |
Het |
| Gapvd1 |
T |
C |
2: 34,615,048 (GRCm39) |
|
probably benign |
Het |
| Gnaq |
T |
A |
19: 16,196,982 (GRCm39) |
I56N |
probably damaging |
Het |
| Gpr139 |
T |
C |
7: 118,744,306 (GRCm39) |
D93G |
probably benign |
Het |
| Hars1 |
C |
T |
18: 36,904,234 (GRCm39) |
R215H |
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,873,882 (GRCm39) |
W2204L |
probably damaging |
Het |
| Ift70b |
A |
G |
2: 75,767,055 (GRCm39) |
V566A |
probably damaging |
Het |
| Itgb6 |
A |
T |
2: 60,435,480 (GRCm39) |
C757S |
possibly damaging |
Het |
| Kpnb1 |
G |
A |
11: 97,078,398 (GRCm39) |
T5I |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,454,035 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,860,546 (GRCm39) |
K175N |
possibly damaging |
Het |
| Lrp2 |
A |
G |
2: 69,258,998 (GRCm39) |
I4564T |
probably benign |
Het |
| Mblac1 |
A |
G |
5: 138,192,798 (GRCm39) |
T47A |
possibly damaging |
Het |
| Med12l |
G |
A |
3: 58,949,822 (GRCm39) |
D182N |
probably damaging |
Het |
| Megf9 |
A |
G |
4: 70,353,585 (GRCm39) |
I407T |
probably benign |
Het |
| Mtmr6 |
A |
T |
14: 60,529,578 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,624,907 (GRCm39) |
T2173A |
probably benign |
Het |
| Mzt1 |
A |
T |
14: 99,277,938 (GRCm39) |
|
probably benign |
Het |
| Narf |
T |
C |
11: 121,143,690 (GRCm39) |
L444P |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,408,271 (GRCm39) |
Q1305L |
possibly damaging |
Het |
| Ntsr1 |
A |
G |
2: 180,184,374 (GRCm39) |
Y359C |
probably damaging |
Het |
| Olfm1 |
A |
G |
2: 28,104,640 (GRCm39) |
D159G |
possibly damaging |
Het |
| Or2l13b |
A |
T |
16: 19,348,732 (GRCm39) |
*313R |
probably null |
Het |
| Pcdh1 |
C |
T |
18: 38,322,975 (GRCm39) |
V953I |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,359,769 (GRCm39) |
N280S |
probably damaging |
Het |
| Per2 |
A |
T |
1: 91,366,054 (GRCm39) |
|
probably null |
Het |
| Pfkp |
G |
T |
13: 6,672,028 (GRCm39) |
C122* |
probably null |
Het |
| Plxna4 |
G |
A |
6: 32,169,232 (GRCm39) |
R1322W |
probably damaging |
Het |
| Ppox |
A |
G |
1: 171,106,818 (GRCm39) |
L202P |
probably damaging |
Het |
| Ppp1r3e |
G |
A |
14: 55,114,588 (GRCm39) |
P58L |
probably benign |
Het |
| Prr23a2 |
A |
C |
9: 98,739,086 (GRCm39) |
N148T |
probably benign |
Het |
| Psd |
T |
C |
19: 46,302,649 (GRCm39) |
T842A |
probably damaging |
Het |
| Ranbp2 |
C |
T |
10: 58,314,236 (GRCm39) |
A1652V |
probably benign |
Het |
| Rragd |
G |
A |
4: 33,007,103 (GRCm39) |
V144M |
probably damaging |
Het |
| Sema6a |
T |
G |
18: 47,381,643 (GRCm39) |
D968A |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,945,793 (GRCm39) |
|
probably null |
Het |
| Snx17 |
G |
T |
5: 31,353,895 (GRCm39) |
|
probably null |
Het |
| Styxl2 |
A |
T |
1: 165,928,853 (GRCm39) |
M253K |
possibly damaging |
Het |
| Syt14 |
G |
T |
1: 192,613,111 (GRCm39) |
T563K |
probably damaging |
Het |
| Tada3 |
T |
C |
6: 113,352,175 (GRCm39) |
K85E |
probably damaging |
Het |
| Tspear |
T |
C |
10: 77,716,921 (GRCm39) |
V532A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,723,453 (GRCm39) |
C6426S |
possibly damaging |
Het |
| Unc79 |
T |
C |
12: 103,060,437 (GRCm39) |
|
probably benign |
Het |
| Usp19 |
A |
G |
9: 108,371,584 (GRCm39) |
|
probably null |
Het |
| Vav3 |
G |
A |
3: 109,434,746 (GRCm39) |
D426N |
probably damaging |
Het |
| Vezt |
T |
C |
10: 93,842,958 (GRCm39) |
|
probably null |
Het |
| Vldlr |
G |
T |
19: 27,213,655 (GRCm39) |
R114L |
probably benign |
Het |
| Wwc2 |
C |
T |
8: 48,321,414 (GRCm39) |
V567I |
unknown |
Het |
| Zfp423 |
T |
C |
8: 88,507,237 (GRCm39) |
T911A |
probably damaging |
Het |
| Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
Het |
| Zkscan16 |
A |
T |
4: 58,956,597 (GRCm39) |
H293L |
possibly damaging |
Het |
| Zkscan6 |
A |
C |
11: 65,719,525 (GRCm39) |
N515T |
possibly damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,575 (GRCm39) |
S450P |
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 |
|
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 |
|
|
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'- GATGCTCACTCTGTACCTGGTCATTG -3'
(R):5'- TGCAAACACCTTAGCCCTAGAAACTTT -3'
Sequencing Primer
(F):5'- ACCTGGTCATTGCCTTGG -3'
(R):5'- GCCCTAGAAACTTTGATTACAGTGTC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation