Incidental Mutation 'R7130:Pcdhb11'
ID |
552610 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb11
|
Ensembl Gene |
ENSMUSG00000051486 |
Gene Name |
protocadherin beta 11 |
Synonyms |
PcdhbK, Pcdhb5E |
MMRRC Submission |
045215-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R7130 (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 G
at 37556559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 630
(S630G)
|
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: S630G
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000056148 Gene: ENSMUSG00000051486 AA Change: S630G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (63/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
C |
T |
13: 77,418,021 (GRCm39) |
T735I |
possibly damaging |
Het |
Abtb3 |
A |
C |
10: 85,223,419 (GRCm39) |
D76A |
unknown |
Het |
Adcy10 |
T |
A |
1: 165,331,616 (GRCm39) |
V83E |
probably damaging |
Het |
Adcy6 |
A |
G |
15: 98,495,110 (GRCm39) |
Y701H |
probably benign |
Het |
Apbb1 |
G |
A |
7: 105,214,538 (GRCm39) |
H518Y |
probably damaging |
Het |
Arhgap20 |
T |
A |
9: 51,761,047 (GRCm39) |
V966E |
probably damaging |
Het |
Bbx |
T |
A |
16: 50,030,805 (GRCm39) |
|
probably null |
Het |
Bpifb9b |
T |
A |
2: 154,153,592 (GRCm39) |
N219K |
probably damaging |
Het |
Cdk19 |
A |
G |
10: 40,355,761 (GRCm39) |
T490A |
unknown |
Het |
Cyb5r1 |
T |
G |
1: 134,335,759 (GRCm39) |
|
probably benign |
Het |
Dnah14 |
C |
T |
1: 181,573,523 (GRCm39) |
Q2945* |
probably null |
Het |
Eif5b |
A |
G |
1: 38,080,857 (GRCm39) |
T733A |
probably damaging |
Het |
Esyt3 |
T |
A |
9: 99,200,223 (GRCm39) |
D657V |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,034,936 (GRCm39) |
F2863I |
probably damaging |
Het |
Fbxw14 |
T |
A |
9: 109,100,350 (GRCm39) |
I435L |
probably benign |
Het |
Fus |
G |
A |
7: 127,573,585 (GRCm39) |
G253S |
unknown |
Het |
Gdi2 |
T |
C |
13: 3,598,891 (GRCm39) |
V25A |
probably benign |
Het |
Gm28729 |
T |
G |
9: 96,401,457 (GRCm39) |
R110S |
probably benign |
Het |
Gucd1 |
A |
G |
10: 75,347,951 (GRCm39) |
L28P |
possibly damaging |
Het |
Hmgxb3 |
C |
T |
18: 61,265,450 (GRCm39) |
S1176N |
probably benign |
Het |
Islr2 |
T |
C |
9: 58,105,575 (GRCm39) |
T606A |
probably damaging |
Het |
Kcnf1 |
T |
C |
12: 17,225,810 (GRCm39) |
D137G |
probably benign |
Het |
Klkb1 |
T |
A |
8: 45,728,575 (GRCm39) |
T395S |
probably benign |
Het |
Morc2b |
T |
A |
17: 33,355,262 (GRCm39) |
S837C |
possibly damaging |
Het |
Mrpl9 |
A |
G |
3: 94,354,597 (GRCm39) |
R204G |
probably benign |
Het |
Naaladl1 |
A |
G |
19: 6,156,018 (GRCm39) |
E64G |
probably benign |
Het |
Nlrx1 |
T |
C |
9: 44,173,638 (GRCm39) |
E521G |
possibly damaging |
Het |
Npc2 |
A |
G |
12: 84,812,081 (GRCm39) |
S54P |
probably damaging |
Het |
Nxpe2 |
T |
C |
9: 48,250,837 (GRCm39) |
M37V |
probably benign |
Het |
Or2ag17 |
A |
G |
7: 106,389,389 (GRCm39) |
L273P |
probably benign |
Het |
Or2w1 |
T |
G |
13: 21,317,416 (GRCm39) |
V157G |
probably benign |
Het |
Or4b1b |
T |
C |
2: 90,112,266 (GRCm39) |
I218V |
probably benign |
Het |
Or9s27 |
C |
T |
1: 92,516,634 (GRCm39) |
A194V |
probably benign |
Het |
Osbpl9 |
G |
A |
4: 108,940,296 (GRCm39) |
R213C |
probably benign |
Het |
Pard3 |
C |
A |
8: 128,142,164 (GRCm39) |
R907S |
probably damaging |
Het |
Pcdhb17 |
G |
A |
18: 37,618,498 (GRCm39) |
C96Y |
probably damaging |
Het |
Pclo |
C |
T |
5: 14,729,356 (GRCm39) |
T2738I |
unknown |
Het |
Pcnx2 |
G |
A |
8: 126,480,323 (GRCm39) |
R1995* |
probably null |
Het |
Ppm1a |
T |
A |
12: 72,831,007 (GRCm39) |
N177K |
probably benign |
Het |
Rfx6 |
A |
T |
10: 51,554,476 (GRCm39) |
K106* |
probably null |
Het |
Rhoh |
T |
C |
5: 66,050,207 (GRCm39) |
V159A |
probably damaging |
Het |
Rreb1 |
T |
C |
13: 38,083,724 (GRCm39) |
V129A |
probably damaging |
Het |
Sdccag8 |
C |
A |
1: 176,702,167 (GRCm39) |
A424D |
probably damaging |
Het |
Sdf2 |
T |
C |
11: 78,136,823 (GRCm39) |
M1T |
probably null |
Het |
Sftpb |
T |
A |
6: 72,282,808 (GRCm39) |
F94I |
possibly damaging |
Het |
Slc38a2 |
G |
T |
15: 96,589,263 (GRCm39) |
H410Q |
probably damaging |
Het |
Slc40a1 |
A |
T |
1: 45,960,384 (GRCm39) |
V68E |
probably damaging |
Het |
Spopfm3 |
T |
C |
3: 94,105,834 (GRCm39) |
W51R |
probably damaging |
Het |
Srd5a3 |
T |
C |
5: 76,297,684 (GRCm39) |
V162A |
possibly damaging |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Tango6 |
A |
G |
8: 107,533,733 (GRCm39) |
D953G |
probably damaging |
Het |
Tdrd7 |
T |
C |
4: 46,029,693 (GRCm39) |
S1009P |
probably damaging |
Het |
Thap3 |
T |
C |
4: 152,073,373 (GRCm39) |
Y14C |
possibly damaging |
Het |
Tmem143 |
T |
A |
7: 45,558,901 (GRCm39) |
M281K |
possibly damaging |
Het |
Trio |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
15: 27,742,399 (GRCm39) |
|
probably benign |
Het |
Tsga10 |
A |
G |
1: 37,822,965 (GRCm39) |
I516T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,721,013 (GRCm39) |
I6804V |
unknown |
Het |
Ubtfl1 |
C |
A |
9: 18,321,143 (GRCm39) |
P224T |
probably damaging |
Het |
Umad1 |
G |
T |
6: 8,427,185 (GRCm39) |
C120F |
probably null |
Het |
Unc93a2 |
T |
C |
17: 7,637,824 (GRCm39) |
T304A |
probably benign |
Het |
Vinac1 |
A |
T |
2: 128,881,101 (GRCm39) |
V275D |
|
Het |
Vmn2r79 |
T |
C |
7: 86,651,474 (GRCm39) |
V291A |
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 |
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 |
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'- GATGACAATGACAATGCGCC -3'
(R):5'- TCTCCATCCTCCTGAATGGG -3'
Sequencing Primer
(F):5'- AATGACAATGCGCCCTTCGTG -3'
(R):5'- ATCCTCCTGAATGGGGTCCTG -3'
|
Posted On |
2019-05-15 |