Incidental Mutation 'R1690:Prkcsh'
ID |
191718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkcsh
|
Ensembl Gene |
ENSMUSG00000003402 |
Gene Name |
protein kinase C substrate 80K-H |
Synonyms |
80K-H, hepatocystin |
MMRRC Submission |
039723-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1690 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
21914284-21925541 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 21921871 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 245
(D245E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003493]
[ENSMUST00000003501]
[ENSMUST00000115331]
[ENSMUST00000215795]
[ENSMUST00000216344]
|
AlphaFold |
O08795 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003493
AA Change: D245E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003493 Gene: ENSMUSG00000003402 AA Change: D245E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
LDLa
|
32 |
72 |
3.01e-2 |
SMART |
internal_repeat_1
|
91 |
105 |
3.48e-7 |
PROSPERO |
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
Pfam:EF-hand_5
|
214 |
236 |
5.5e-5 |
PFAM |
Pfam:EF-hand_5
|
239 |
257 |
4.4e-4 |
PFAM |
low complexity region
|
290 |
341 |
N/A |
INTRINSIC |
Pfam:PRKCSH_1
|
366 |
512 |
4.3e-23 |
PFAM |
Pfam:PRKCSH
|
406 |
464 |
1.1e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000003501
|
SMART Domains |
Protein: ENSMUSP00000003501 Gene: ENSMUSG00000003410
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
33 |
N/A |
INTRINSIC |
RRM
|
40 |
113 |
9.99e-24 |
SMART |
RRM
|
126 |
201 |
2.81e-18 |
SMART |
low complexity region
|
266 |
283 |
N/A |
INTRINSIC |
RRM
|
285 |
358 |
1.79e-25 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115331
AA Change: D245E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110987 Gene: ENSMUSG00000003402 AA Change: D245E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
LDLa
|
32 |
72 |
3.01e-2 |
SMART |
internal_repeat_1
|
91 |
105 |
1.7e-7 |
PROSPERO |
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
Pfam:EF-hand_5
|
215 |
236 |
3.2e-5 |
PFAM |
Pfam:EF-hand_5
|
239 |
257 |
1.2e-3 |
PFAM |
low complexity region
|
290 |
352 |
N/A |
INTRINSIC |
Pfam:PRKCSH_1
|
373 |
519 |
4.4e-23 |
PFAM |
Pfam:PRKCSH
|
413 |
471 |
4e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214565
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215795
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216344
AA Change: D245E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis. Mice homozygous for a conditional allele activated in the kidneys or ubiquitously develop polycystic kidney and liver phenotypes, respectively. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
A |
G |
7: 28,610,950 (GRCm39) |
S263P |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,347,494 (GRCm39) |
E403G |
probably damaging |
Het |
Adgrg7 |
A |
T |
16: 56,615,993 (GRCm39) |
V11E |
probably damaging |
Het |
Arhgap35 |
A |
G |
7: 16,297,206 (GRCm39) |
C620R |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,739,505 (GRCm39) |
|
probably null |
Het |
Cfap54 |
A |
G |
10: 92,871,304 (GRCm39) |
S639P |
possibly damaging |
Het |
Csf2rb |
T |
C |
15: 78,232,844 (GRCm39) |
V717A |
probably benign |
Het |
D17H6S53E |
A |
G |
17: 35,346,188 (GRCm39) |
D33G |
possibly damaging |
Het |
Dpf2 |
C |
T |
19: 5,955,490 (GRCm39) |
R131Q |
probably damaging |
Het |
Dtx3l |
C |
T |
16: 35,753,638 (GRCm39) |
A323T |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fgf15 |
A |
G |
7: 144,453,665 (GRCm39) |
S213G |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,355,827 (GRCm39) |
F756Y |
unknown |
Het |
Hnrnpk |
T |
A |
13: 58,548,168 (GRCm39) |
T13S |
probably benign |
Het |
Htr3b |
T |
A |
9: 48,848,394 (GRCm39) |
M284L |
possibly damaging |
Het |
Itgal |
T |
C |
7: 126,901,289 (GRCm39) |
M225T |
possibly damaging |
Het |
Lipi |
A |
G |
16: 75,338,013 (GRCm39) |
Y454H |
probably damaging |
Het |
Lrit3 |
T |
C |
3: 129,594,394 (GRCm39) |
K61R |
probably damaging |
Het |
Lta4h |
A |
G |
10: 93,320,554 (GRCm39) |
D583G |
probably benign |
Het |
Mettl17 |
T |
A |
14: 52,128,918 (GRCm39) |
V396D |
probably damaging |
Het |
Nlrc4 |
G |
A |
17: 74,744,518 (GRCm39) |
R788* |
probably null |
Het |
Or8k25 |
T |
A |
2: 86,244,298 (GRCm39) |
I33F |
probably benign |
Het |
Pepd |
G |
A |
7: 34,730,782 (GRCm39) |
G278D |
probably damaging |
Het |
Pramel23 |
T |
C |
4: 143,424,693 (GRCm39) |
E250G |
probably benign |
Het |
Prlr |
A |
T |
15: 10,317,676 (GRCm39) |
D84V |
probably damaging |
Het |
Pth2r |
C |
T |
1: 65,411,462 (GRCm39) |
T333I |
probably benign |
Het |
Ptk2 |
T |
A |
15: 73,134,459 (GRCm39) |
I547F |
probably damaging |
Het |
Rab11fip2 |
A |
T |
19: 59,925,732 (GRCm39) |
S162T |
probably damaging |
Het |
Rnf41 |
C |
A |
10: 128,271,329 (GRCm39) |
Q80K |
possibly damaging |
Het |
Scn7a |
T |
G |
2: 66,506,287 (GRCm39) |
D1534A |
probably damaging |
Het |
Septin12 |
A |
G |
16: 4,806,378 (GRCm39) |
V261A |
probably damaging |
Het |
Sh2d4a |
T |
C |
8: 68,747,101 (GRCm39) |
S110P |
probably benign |
Het |
Soat1 |
A |
T |
1: 156,272,144 (GRCm39) |
S114T |
probably benign |
Het |
Taar8a |
A |
G |
10: 23,952,813 (GRCm39) |
Y139C |
probably damaging |
Het |
Tcf12 |
A |
G |
9: 71,777,354 (GRCm39) |
|
probably null |
Het |
Tmem202 |
T |
A |
9: 59,426,391 (GRCm39) |
R258S |
possibly damaging |
Het |
Ttc39b |
A |
T |
4: 83,145,414 (GRCm39) |
I604N |
probably damaging |
Het |
Vit |
A |
G |
17: 78,932,294 (GRCm39) |
D467G |
probably damaging |
Het |
Zc3hc1 |
A |
G |
6: 30,390,940 (GRCm39) |
V21A |
probably damaging |
Het |
Zfp608 |
T |
A |
18: 55,120,706 (GRCm39) |
I294F |
possibly damaging |
Het |
Zfp825 |
T |
A |
13: 74,628,781 (GRCm39) |
H227L |
probably benign |
Het |
|
Other mutations in Prkcsh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00937:Prkcsh
|
APN |
9 |
21,917,861 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0306:Prkcsh
|
UTSW |
9 |
21,917,822 (GRCm39) |
splice site |
probably benign |
|
R0376:Prkcsh
|
UTSW |
9 |
21,921,547 (GRCm39) |
splice site |
probably benign |
|
R1834:Prkcsh
|
UTSW |
9 |
21,919,634 (GRCm39) |
missense |
probably damaging |
0.98 |
R1856:Prkcsh
|
UTSW |
9 |
21,915,871 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1980:Prkcsh
|
UTSW |
9 |
21,924,164 (GRCm39) |
missense |
probably damaging |
0.99 |
R1981:Prkcsh
|
UTSW |
9 |
21,924,164 (GRCm39) |
missense |
probably damaging |
0.99 |
R1982:Prkcsh
|
UTSW |
9 |
21,924,164 (GRCm39) |
missense |
probably damaging |
0.99 |
R2184:Prkcsh
|
UTSW |
9 |
21,916,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R3625:Prkcsh
|
UTSW |
9 |
21,922,548 (GRCm39) |
missense |
probably null |
1.00 |
R4798:Prkcsh
|
UTSW |
9 |
21,923,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R5059:Prkcsh
|
UTSW |
9 |
21,924,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R5580:Prkcsh
|
UTSW |
9 |
21,922,551 (GRCm39) |
critical splice donor site |
probably null |
|
R7055:Prkcsh
|
UTSW |
9 |
21,924,457 (GRCm39) |
makesense |
probably null |
|
R8712:Prkcsh
|
UTSW |
9 |
21,924,375 (GRCm39) |
missense |
probably damaging |
0.99 |
R9463:Prkcsh
|
UTSW |
9 |
21,923,982 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Prkcsh
|
UTSW |
9 |
21,924,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTTCCAGGAACTTGACGACAAC -3'
(R):5'- TCTCTCACTGACATGGAGAGCCAC -3'
Sequencing Primer
(F):5'- ATGTCTTCCAAGGCCATAGG -3'
(R):5'- CATGGAGAGCCACAGTTCAG -3'
|
Posted On |
2014-05-14 |