Incidental Mutation 'R7444:Pcdhb11'
| ID |
577196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb11
|
| Ensembl Gene |
ENSMUSG00000051486 |
| Gene Name |
protocadherin beta 11 |
| Synonyms |
PcdhbK, Pcdhb5E |
| MMRRC Submission |
045520-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R7444 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37554471-37558085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37555672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 334
(I334K)
|
| 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: I334K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: I334K
| 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: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,984,787 (GRCm39) |
M2024V |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,745,831 (GRCm39) |
Q1673L |
|
Het |
| Atic |
G |
T |
1: 71,602,946 (GRCm39) |
V107L |
probably benign |
Het |
| B2m |
A |
G |
2: 121,981,416 (GRCm39) |
N44D |
probably damaging |
Het |
| Bud13 |
A |
G |
9: 46,209,799 (GRCm39) |
D636G |
probably damaging |
Het |
| Cenpk |
T |
C |
13: 104,386,025 (GRCm39) |
*307Q |
probably null |
Het |
| Cep68 |
A |
G |
11: 20,189,438 (GRCm39) |
S525P |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,733,193 (GRCm39) |
L105P |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,220,079 (GRCm39) |
M630L |
probably benign |
Het |
| Cpb2 |
A |
G |
14: 75,520,782 (GRCm39) |
Y399C |
probably damaging |
Het |
| Dars2 |
G |
T |
1: 160,874,454 (GRCm39) |
P412T |
possibly damaging |
Het |
| E2f8 |
A |
T |
7: 48,517,927 (GRCm39) |
I665N |
probably damaging |
Het |
| Epha4 |
A |
T |
1: 77,364,553 (GRCm39) |
I652N |
probably damaging |
Het |
| Ermn |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
2: 57,938,079 (GRCm39) |
|
probably benign |
Het |
| Flrt3 |
T |
C |
2: 140,502,387 (GRCm39) |
T414A |
probably benign |
Het |
| Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
| Fosb |
T |
C |
7: 19,041,199 (GRCm39) |
D98G |
possibly damaging |
Het |
| Gm5773 |
T |
C |
3: 93,680,850 (GRCm39) |
L174S |
probably damaging |
Het |
| Hectd3 |
T |
A |
4: 116,854,124 (GRCm39) |
V258E |
possibly damaging |
Het |
| Inf2 |
T |
A |
12: 112,571,821 (GRCm39) |
W617R |
unknown |
Het |
| Irf7 |
T |
A |
7: 140,843,599 (GRCm39) |
I358F |
probably damaging |
Het |
| Lipo3 |
A |
G |
19: 33,535,663 (GRCm39) |
|
probably null |
Het |
| Lrig2 |
A |
T |
3: 104,404,829 (GRCm39) |
L93* |
probably null |
Het |
| Lzts1 |
C |
T |
8: 69,588,331 (GRCm39) |
V542M |
probably damaging |
Het |
| Mefv |
T |
A |
16: 3,533,386 (GRCm39) |
H295L |
probably benign |
Het |
| Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
| Nat8f6 |
G |
C |
6: 85,786,112 (GRCm39) |
S12R |
probably benign |
Het |
| Nipal4 |
G |
T |
11: 46,057,062 (GRCm39) |
N14K |
probably benign |
Het |
| Nlrp4c |
T |
A |
7: 6,095,595 (GRCm39) |
C824* |
probably null |
Het |
| Npat |
T |
C |
9: 53,460,210 (GRCm39) |
S53P |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,477,464 (GRCm39) |
E549G |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,554 (GRCm39) |
L64P |
probably damaging |
Het |
| Or12e8 |
T |
A |
2: 87,188,444 (GRCm39) |
L219I |
possibly damaging |
Het |
| Or1r1 |
T |
C |
11: 73,874,576 (GRCm39) |
N286S |
probably damaging |
Het |
| Or4a80 |
T |
C |
2: 89,583,103 (GRCm39) |
K23R |
probably benign |
Het |
| Or4f62 |
A |
T |
2: 111,987,060 (GRCm39) |
I255F |
probably damaging |
Het |
| Or5p55 |
T |
A |
7: 107,566,811 (GRCm39) |
V69E |
probably damaging |
Het |
| Or6c6b |
T |
C |
10: 129,147,559 (GRCm39) |
M61T |
probably benign |
Het |
| Or6z6 |
C |
A |
7: 6,490,919 (GRCm39) |
W311L |
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,505 (GRCm39) |
L605P |
probably damaging |
Het |
| Pced1a |
G |
T |
2: 130,263,979 (GRCm39) |
H224Q |
probably damaging |
Het |
| Pde6b |
C |
A |
5: 108,575,008 (GRCm39) |
S623* |
probably null |
Het |
| Pgr |
T |
C |
9: 8,946,883 (GRCm39) |
L708P |
probably damaging |
Het |
| Pnpla1 |
T |
C |
17: 29,097,455 (GRCm39) |
I207T |
possibly damaging |
Het |
| Prkag3 |
A |
T |
1: 74,786,425 (GRCm39) |
D173E |
probably benign |
Het |
| Prrt4 |
A |
G |
6: 29,176,516 (GRCm39) |
F270L |
probably benign |
Het |
| Ptdss2 |
C |
A |
7: 140,732,997 (GRCm39) |
P260Q |
possibly damaging |
Het |
| Rftn1 |
T |
A |
17: 50,354,435 (GRCm39) |
N309I |
probably damaging |
Het |
| Rgs12 |
T |
C |
5: 35,183,287 (GRCm39) |
V978A |
possibly damaging |
Het |
| Rnf111 |
T |
C |
9: 70,348,125 (GRCm39) |
Y816C |
probably damaging |
Het |
| Rnf208 |
C |
T |
2: 25,133,326 (GRCm39) |
P7S |
probably damaging |
Het |
| Rnf24 |
T |
C |
2: 131,155,215 (GRCm39) |
D4G |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,570,349 (GRCm39) |
I4925L |
probably benign |
Het |
| S1pr5 |
A |
T |
9: 21,156,378 (GRCm39) |
V16D |
possibly damaging |
Het |
| Scgb1b24 |
A |
G |
7: 33,443,566 (GRCm39) |
D75G |
possibly damaging |
Het |
| Setdb2 |
A |
T |
14: 59,660,794 (GRCm39) |
C116* |
probably null |
Het |
| Sh3rf2 |
G |
A |
18: 42,234,604 (GRCm39) |
R129Q |
probably damaging |
Het |
| Spata31d1d |
C |
T |
13: 59,875,007 (GRCm39) |
V843I |
probably benign |
Het |
| Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
| Tecrl |
T |
A |
5: 83,502,915 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,066,590 (GRCm39) |
S2007T |
possibly damaging |
Het |
| Tomm7 |
C |
A |
5: 24,049,155 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
A |
C |
11: 73,135,030 (GRCm39) |
N409T |
possibly damaging |
Het |
| Try5 |
T |
A |
6: 41,288,299 (GRCm39) |
Y218F |
probably benign |
Het |
| Tspan5 |
A |
T |
3: 138,603,883 (GRCm39) |
I196F |
possibly damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,489,405 (GRCm39) |
C709* |
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 |
|
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'- CTGCCAGGGATTTAGATTCTGG -3'
(R):5'- TTCTCAAACGTGGGTTTCAGGAG -3'
Sequencing Primer
(F):5'- ATTCTGGGATATATGGCAATGTAGC -3'
(R):5'- TCAGGAGAAATGGAATATTGTTCTGG -3'
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| Posted On |
2019-10-07 |
Incidental Mutation