Incidental Mutation 'R8957:Pcdhb11'
| ID |
682130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb11
|
| Ensembl Gene |
ENSMUSG00000051486 |
| Gene Name |
protocadherin beta 11 |
| Synonyms |
Pcdhb5E, PcdhbK |
| MMRRC Submission |
068793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R8957 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37421418-37425836 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 37421639 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 7
(K7N)
|
| 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: K7N
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: K7N
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
A |
G |
5: 114,813,830 (GRCm38) |
V28A |
probably benign |
Het |
| 4932415D10Rik |
A |
G |
10: 82,289,074 (GRCm38) |
Y2701H |
probably benign |
Het |
| Abca12 |
T |
A |
1: 71,321,625 (GRCm38) |
D503V |
possibly damaging |
Het |
| Aco2 |
A |
T |
15: 81,889,500 (GRCm38) |
|
probably benign |
Het |
| Aff1 |
A |
G |
5: 103,833,768 (GRCm38) |
Q591R |
possibly damaging |
Het |
| Ankle2 |
G |
A |
5: 110,231,255 (GRCm38) |
A7T |
possibly damaging |
Het |
| Ankrd12 |
T |
C |
17: 65,984,496 (GRCm38) |
N1314S |
probably benign |
Het |
| Apeh |
A |
T |
9: 108,092,373 (GRCm38) |
M216K |
probably benign |
Het |
| Armh1 |
T |
C |
4: 117,229,907 (GRCm38) |
Y187C |
probably damaging |
Het |
| Ascc3 |
C |
A |
10: 50,700,112 (GRCm38) |
A821E |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,566,703 (GRCm38) |
D650G |
probably null |
Het |
| BC055324 |
C |
T |
1: 163,964,766 (GRCm38) |
R554H |
probably damaging |
Het |
| Cav1 |
T |
A |
6: 17,339,236 (GRCm38) |
F107I |
probably benign |
Het |
| Ccdc146 |
A |
G |
5: 21,309,587 (GRCm38) |
|
probably benign |
Het |
| Ccdc57 |
A |
G |
11: 120,886,035 (GRCm38) |
I513T |
probably benign |
Het |
| Ccrl2 |
T |
C |
9: 111,055,489 (GRCm38) |
R314G |
probably benign |
Het |
| Cd1d1 |
T |
C |
3: 86,998,833 (GRCm38) |
D45G |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,436,730 (GRCm38) |
E620K |
|
Het |
| Col4a1 |
T |
A |
8: 11,245,906 (GRCm38) |
|
probably benign |
Het |
| Cux2 |
C |
T |
5: 121,860,948 (GRCm38) |
G1310R |
probably benign |
Het |
| Cyld |
G |
T |
8: 88,705,782 (GRCm38) |
R136L |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,306,981 (GRCm38) |
N511K |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,282,266 (GRCm38) |
V1646M |
|
Het |
| Des |
A |
T |
1: 75,363,651 (GRCm38) |
I401F |
probably damaging |
Het |
| Dis3 |
T |
C |
14: 99,099,591 (GRCm38) |
D28G |
probably damaging |
Het |
| Ehd1 |
A |
G |
19: 6,294,409 (GRCm38) |
Y233C |
probably damaging |
Het |
| Fcrlb |
G |
A |
1: 170,907,967 (GRCm38) |
A246V |
probably benign |
Het |
| Fnta |
T |
C |
8: 25,999,513 (GRCm38) |
R357G |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,685,342 (GRCm38) |
D420G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,946,035 (GRCm38) |
|
probably null |
Het |
| Hdhd5 |
C |
T |
6: 120,518,443 (GRCm38) |
|
probably null |
Het |
| Iqgap2 |
G |
A |
13: 95,635,646 (GRCm38) |
R1342C |
probably damaging |
Het |
| Isyna1 |
T |
G |
8: 70,596,722 (GRCm38) |
L428R |
probably damaging |
Het |
| Jmjd4 |
C |
T |
11: 59,450,058 (GRCm38) |
|
probably benign |
Het |
| Klra1 |
A |
G |
6: 130,380,646 (GRCm38) |
V6A |
possibly damaging |
Het |
| Klrb1b |
T |
A |
6: 128,818,559 (GRCm38) |
K124N |
probably benign |
Het |
| Krtap19-3 |
T |
C |
16: 88,877,945 (GRCm38) |
|
probably benign |
Het |
| Lrrc74b |
T |
C |
16: 17,561,112 (GRCm38) |
T34A |
probably benign |
Het |
| Map9 |
A |
G |
3: 82,371,380 (GRCm38) |
Y229C |
probably benign |
Het |
| Mmp28 |
T |
C |
11: 83,443,810 (GRCm38) |
I373V |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,332,979 (GRCm38) |
Y1086* |
probably null |
Het |
| Myct1 |
C |
T |
10: 5,604,208 (GRCm38) |
T25I |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,250,954 (GRCm38) |
K880E |
possibly damaging |
Het |
| Nav2 |
T |
G |
7: 49,571,216 (GRCm38) |
V1656G |
probably damaging |
Het |
| Olfr103 |
A |
G |
17: 37,336,491 (GRCm38) |
V247A |
probably damaging |
Het |
| Olfr1453 |
T |
A |
19: 13,027,517 (GRCm38) |
I271F |
probably benign |
Het |
| Olfr403 |
T |
A |
11: 74,195,946 (GRCm38) |
S148T |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,685,615 (GRCm38) |
W100R |
probably benign |
Het |
| Pgam1 |
T |
A |
19: 41,916,776 (GRCm38) |
I183N |
possibly damaging |
Het |
| Pou5f1 |
T |
G |
17: 35,510,469 (GRCm38) |
L326R |
possibly damaging |
Het |
| Rbm34 |
A |
C |
8: 126,965,458 (GRCm38) |
V178G |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,399,648 (GRCm38) |
V384A |
possibly damaging |
Het |
| Sec62 |
T |
A |
3: 30,810,522 (GRCm38) |
F178L |
unknown |
Het |
| Slco1a6 |
T |
C |
6: 142,145,767 (GRCm38) |
N69S |
probably damaging |
Het |
| Smok2b |
T |
A |
17: 13,234,986 (GRCm38) |
L11Q |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,708,249 (GRCm38) |
S255P |
probably damaging |
Het |
| Tesk2 |
T |
A |
4: 116,802,713 (GRCm38) |
F343I |
probably benign |
Het |
| Tmem106c |
A |
T |
15: 97,969,600 (GRCm38) |
I222F |
probably benign |
Het |
| Tmub1 |
G |
T |
5: 24,446,777 (GRCm38) |
T63K |
probably benign |
Het |
| Tnip3 |
A |
G |
6: 65,605,859 (GRCm38) |
T217A |
probably benign |
Het |
| Vmn2r10 |
T |
G |
5: 109,001,914 (GRCm38) |
K421N |
possibly damaging |
Het |
| Wdr78 |
T |
C |
4: 103,096,753 (GRCm38) |
D83G |
probably damaging |
Het |
| Zfp975 |
A |
T |
7: 42,661,733 (GRCm38) |
H485Q |
probably damaging |
Het |
|
| Other mutations in Pcdhb11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Pcdhb11
|
APN |
18 |
37,421,973 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00906:Pcdhb11
|
APN |
18 |
37,422,121 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL01610:Pcdhb11
|
APN |
18 |
37,423,359 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01973:Pcdhb11
|
APN |
18 |
37,423,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01977:Pcdhb11
|
APN |
18 |
37,422,291 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL02164:Pcdhb11
|
APN |
18 |
37,423,359 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02282:Pcdhb11
|
APN |
18 |
37,423,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02674:Pcdhb11
|
APN |
18 |
37,423,614 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02965:Pcdhb11
|
APN |
18 |
37,423,968 (GRCm38) |
missense |
probably benign |
|
|
IGL03197:Pcdhb11
|
APN |
18 |
37,422,424 (GRCm38) |
nonsense |
probably null |
|
|
1mM(1):Pcdhb11
|
UTSW |
18 |
37,423,957 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0001:Pcdhb11
|
UTSW |
18 |
37,423,989 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0383:Pcdhb11
|
UTSW |
18 |
37,423,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0421:Pcdhb11
|
UTSW |
18 |
37,422,480 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0422:Pcdhb11
|
UTSW |
18 |
37,421,870 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0427:Pcdhb11
|
UTSW |
18 |
37,422,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0542:Pcdhb11
|
UTSW |
18 |
37,423,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0620:Pcdhb11
|
UTSW |
18 |
37,421,811 (GRCm38) |
nonsense |
probably null |
|
|
R1014:Pcdhb11
|
UTSW |
18 |
37,423,369 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1277:Pcdhb11
|
UTSW |
18 |
37,421,716 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R2034:Pcdhb11
|
UTSW |
18 |
37,422,493 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2142:Pcdhb11
|
UTSW |
18 |
37,422,123 (GRCm38) |
missense |
probably benign |
0.28 |
|
R2496:Pcdhb11
|
UTSW |
18 |
37,422,322 (GRCm38) |
missense |
probably benign |
0.30 |
|
R3077:Pcdhb11
|
UTSW |
18 |
37,422,244 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4560:Pcdhb11
|
UTSW |
18 |
37,423,734 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R4590:Pcdhb11
|
UTSW |
18 |
37,422,496 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4642:Pcdhb11
|
UTSW |
18 |
37,421,968 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4729:Pcdhb11
|
UTSW |
18 |
37,422,366 (GRCm38) |
nonsense |
probably null |
|
|
R5012:Pcdhb11
|
UTSW |
18 |
37,422,976 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R5364:Pcdhb11
|
UTSW |
18 |
37,422,179 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5910:Pcdhb11
|
UTSW |
18 |
37,423,743 (GRCm38) |
missense |
probably benign |
0.43 |
|
R6023:Pcdhb11
|
UTSW |
18 |
37,422,925 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6106:Pcdhb11
|
UTSW |
18 |
37,423,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6254:Pcdhb11
|
UTSW |
18 |
37,421,718 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6276:Pcdhb11
|
UTSW |
18 |
37,421,760 (GRCm38) |
missense |
probably benign |
0.36 |
|
R6360:Pcdhb11
|
UTSW |
18 |
37,422,159 (GRCm38) |
missense |
probably benign |
|
|
R6699:Pcdhb11
|
UTSW |
18 |
37,422,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6732:Pcdhb11
|
UTSW |
18 |
37,422,144 (GRCm38) |
missense |
probably benign |
|
|
R6760:Pcdhb11
|
UTSW |
18 |
37,421,584 (GRCm38) |
intron |
probably benign |
|
|
R6916:Pcdhb11
|
UTSW |
18 |
37,422,381 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R7130:Pcdhb11
|
UTSW |
18 |
37,423,506 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7267:Pcdhb11
|
UTSW |
18 |
37,421,953 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R7426:Pcdhb11
|
UTSW |
18 |
37,423,260 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7444:Pcdhb11
|
UTSW |
18 |
37,422,619 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7492:Pcdhb11
|
UTSW |
18 |
37,423,444 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7504:Pcdhb11
|
UTSW |
18 |
37,421,799 (GRCm38) |
missense |
probably benign |
|
|
R7537:Pcdhb11
|
UTSW |
18 |
37,421,619 (GRCm38) |
start codon destroyed |
possibly damaging |
0.88 |
|
R7728:Pcdhb11
|
UTSW |
18 |
37,423,477 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7817:Pcdhb11
|
UTSW |
18 |
37,423,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8071:Pcdhb11
|
UTSW |
18 |
37,422,369 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8229:Pcdhb11
|
UTSW |
18 |
37,422,618 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8254:Pcdhb11
|
UTSW |
18 |
37,422,189 (GRCm38) |
missense |
probably benign |
0.45 |
|
R8356:Pcdhb11
|
UTSW |
18 |
37,422,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8739:Pcdhb11
|
UTSW |
18 |
37,422,496 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8957:Pcdhb11
|
UTSW |
18 |
37,422,819 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8964:Pcdhb11
|
UTSW |
18 |
37,423,607 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8966:Pcdhb11
|
UTSW |
18 |
37,422,984 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R9188:Pcdhb11
|
UTSW |
18 |
37,423,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9253:Pcdhb11
|
UTSW |
18 |
37,421,476 (GRCm38) |
intron |
probably benign |
|
|
R9632:Pcdhb11
|
UTSW |
18 |
37,422,966 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACGATGGCAGCTGCTTGAAG -3'
(R):5'- CATCCATCTGCAAGAGCTCTTTG -3'
Sequencing Primer
(F):5'- TGGCAGCTGCTTGAAGAAGAAG -3'
(R):5'- AATGGATTTGAGCTCCTCTAGTGGC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation