Incidental Mutation 'R7504:Pcdhb11'
| ID |
581693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb11
|
| Ensembl Gene |
ENSMUSG00000051486 |
| Gene Name |
protocadherin beta 11 |
| Synonyms |
Pcdhb5E, PcdhbK |
| MMRRC Submission |
045577-MU
|
| Accession Numbers |
Genbank: NM_053136.3; Ensembl: ENSMUST00000053073
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R7504 (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 T
at 37421799 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 61
(T61S)
|
| 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: T61S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: T61S
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
C |
G |
17: 14,943,653 (GRCm38) |
A14G |
probably damaging |
Het |
| 6430573F11Rik |
A |
C |
8: 36,512,155 (GRCm38) |
N304T |
probably benign |
Het |
| Btn1a1 |
A |
T |
13: 23,461,716 (GRCm38) |
M161K |
probably benign |
Het |
| Camkk2 |
G |
A |
5: 122,746,308 (GRCm38) |
T350I |
probably damaging |
Het |
| Cdc42bpg |
C |
A |
19: 6,306,784 (GRCm38) |
D23E |
possibly damaging |
Het |
| Cdkn1a |
T |
C |
17: 29,098,514 (GRCm38) |
L36P |
probably damaging |
Het |
| Dek |
A |
G |
13: 47,088,035 (GRCm38) |
I351T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,201,017 (GRCm38) |
Y1816H |
probably damaging |
Het |
| Efl1 |
T |
A |
7: 82,683,049 (GRCm38) |
N300K |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,101,617 (GRCm38) |
Y294H |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,545,038 (GRCm38) |
I198N |
probably damaging |
Het |
| Gm6502 |
G |
T |
5: 94,317,047 (GRCm38) |
V431L |
probably benign |
Het |
| Grid1 |
G |
T |
14: 35,562,513 (GRCm38) |
A738S |
probably damaging |
Het |
| Gsx2 |
G |
A |
5: 75,076,399 (GRCm38) |
|
probably null |
Het |
| Hc |
G |
A |
2: 35,061,319 (GRCm38) |
T22I |
not run |
Het |
| Hps1 |
T |
C |
19: 42,766,720 (GRCm38) |
D261G |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,918,005 (GRCm38) |
Y539C |
probably damaging |
Het |
| Insc |
G |
T |
7: 114,791,298 (GRCm38) |
|
probably null |
Het |
| Isg15 |
T |
C |
4: 156,200,045 (GRCm38) |
M9V |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,256,233 (GRCm38) |
L695P |
unknown |
Het |
| Nars |
A |
C |
18: 64,512,022 (GRCm38) |
F52V |
probably benign |
Het |
| Nmt1 |
T |
G |
11: 103,056,459 (GRCm38) |
F225V |
probably damaging |
Het |
| Olfr1352 |
A |
G |
10: 78,984,660 (GRCm38) |
Y290C |
possibly damaging |
Het |
| Olfr143 |
A |
T |
9: 38,254,243 (GRCm38) |
K272N |
possibly damaging |
Het |
| Olfr1495 |
T |
A |
19: 13,768,732 (GRCm38) |
I130N |
probably damaging |
Het |
| Pbx3 |
T |
C |
2: 34,175,924 (GRCm38) |
T385A |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,152,953 (GRCm38) |
E606G |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,075,759 (GRCm38) |
Y589H |
probably benign |
Het |
| Scara3 |
A |
G |
14: 65,931,331 (GRCm38) |
I279T |
possibly damaging |
Het |
| Sdk2 |
T |
A |
11: 113,867,967 (GRCm38) |
Y477F |
possibly damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,758,171 (GRCm38) |
K415E |
probably benign |
Het |
| Stag1 |
C |
T |
9: 100,888,328 (GRCm38) |
T639I |
probably benign |
Het |
| Sv2b |
A |
T |
7: 75,136,383 (GRCm38) |
F430I |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,139,743 (GRCm38) |
C743Y |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,487,339 (GRCm38) |
V445L |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,554,632 (GRCm38) |
S652P |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 64,992,617 (GRCm38) |
D1155G |
possibly damaging |
Het |
| Traip |
T |
C |
9: 107,961,544 (GRCm38) |
I169T |
probably benign |
Het |
| Usp45 |
T |
G |
4: 21,816,892 (GRCm38) |
M374R |
possibly damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,268,332 (GRCm38) |
H263L |
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,581,846 (GRCm38) |
V364A |
probably damaging |
Het |
| Zfp128 |
G |
A |
7: 12,890,478 (GRCm38) |
D258N |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,909,418 (GRCm38) |
T76I |
probably benign |
Het |
| Zfp688 |
C |
A |
7: 127,419,311 (GRCm38) |
C214F |
probably damaging |
Het |
| Zfp760 |
T |
C |
17: 21,722,674 (GRCm38) |
S277P |
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 |
|
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 |
|
R8957:Pcdhb11
|
UTSW |
18 |
37,421,639 (GRCm38) |
missense |
probably benign |
0.43 |
|
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'- ACCCTCTGGACTGAATCTGC -3'
(R):5'- TATATCAGTGAGCTGCAGTTCAG -3'
Sequencing Primer
(F):5'- CTCTGGACTGAATCTGCACAATGG -3'
(R):5'- CTGCAGTTCAGTTTGGAAGAAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation