Incidental Mutation 'R4160:Prr36'
ID |
315701 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr36
|
Ensembl Gene |
ENSMUSG00000064125 |
Gene Name |
proline rich 36 |
Synonyms |
BC068157 |
MMRRC Submission |
041003-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R4160 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
4259543-4267459 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 4262910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 919
(Q919K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168386]
[ENSMUST00000175906]
[ENSMUST00000176072]
[ENSMUST00000176149]
[ENSMUST00000176227]
[ENSMUST00000176825]
[ENSMUST00000177491]
[ENSMUST00000176764]
|
AlphaFold |
E9PV26 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168386
AA Change: Q919K
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000133114 Gene: ENSMUSG00000064125 AA Change: Q919K
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
internal_repeat_1
|
63 |
82 |
5.9e-10 |
PROSPERO |
internal_repeat_1
|
87 |
106 |
5.9e-10 |
PROSPERO |
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
low complexity region
|
358 |
388 |
N/A |
INTRINSIC |
low complexity region
|
390 |
425 |
N/A |
INTRINSIC |
low complexity region
|
466 |
497 |
N/A |
INTRINSIC |
low complexity region
|
543 |
567 |
N/A |
INTRINSIC |
low complexity region
|
571 |
612 |
N/A |
INTRINSIC |
low complexity region
|
647 |
726 |
N/A |
INTRINSIC |
low complexity region
|
733 |
751 |
N/A |
INTRINSIC |
low complexity region
|
755 |
780 |
N/A |
INTRINSIC |
low complexity region
|
783 |
867 |
N/A |
INTRINSIC |
low complexity region
|
1020 |
1045 |
N/A |
INTRINSIC |
Pfam:DUF4596
|
1053 |
1098 |
4.1e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175650
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175906
|
SMART Domains |
Protein: ENSMUSP00000135713 Gene: ENSMUSG00000064125
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
internal_repeat_1
|
63 |
82 |
5.38e-8 |
PROSPERO |
internal_repeat_1
|
87 |
106 |
5.38e-8 |
PROSPERO |
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176072
|
SMART Domains |
Protein: ENSMUSP00000134867 Gene: ENSMUSG00000011832
Domain | Start | End | E-Value | Type |
Blast:TBC
|
27 |
100 |
2e-7 |
BLAST |
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
TBC
|
117 |
328 |
1.57e-85 |
SMART |
internal_repeat_1
|
415 |
451 |
4.14e-7 |
PROSPERO |
coiled coil region
|
455 |
478 |
N/A |
INTRINSIC |
internal_repeat_1
|
513 |
549 |
4.14e-7 |
PROSPERO |
low complexity region
|
697 |
708 |
N/A |
INTRINSIC |
low complexity region
|
732 |
743 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176149
|
SMART Domains |
Protein: ENSMUSP00000135479 Gene: ENSMUSG00000011832
Domain | Start | End | E-Value | Type |
Blast:TBC
|
27 |
100 |
2e-7 |
BLAST |
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
TBC
|
117 |
328 |
1.57e-85 |
SMART |
internal_repeat_1
|
463 |
509 |
1.56e-7 |
PROSPERO |
coiled coil region
|
513 |
536 |
N/A |
INTRINSIC |
internal_repeat_1
|
563 |
607 |
1.56e-7 |
PROSPERO |
low complexity region
|
755 |
766 |
N/A |
INTRINSIC |
low complexity region
|
790 |
801 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176227
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176645
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176825
|
SMART Domains |
Protein: ENSMUSP00000135700 Gene: ENSMUSG00000011832
Domain | Start | End | E-Value | Type |
Blast:TBC
|
27 |
100 |
2e-7 |
BLAST |
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
TBC
|
117 |
328 |
1.57e-85 |
SMART |
internal_repeat_1
|
452 |
498 |
1.86e-7 |
PROSPERO |
coiled coil region
|
502 |
525 |
N/A |
INTRINSIC |
internal_repeat_1
|
552 |
596 |
1.86e-7 |
PROSPERO |
low complexity region
|
744 |
755 |
N/A |
INTRINSIC |
low complexity region
|
779 |
790 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177491
|
SMART Domains |
Protein: ENSMUSP00000135130 Gene: ENSMUSG00000064125
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
internal_repeat_1
|
63 |
82 |
1.65e-6 |
PROSPERO |
internal_repeat_1
|
87 |
106 |
1.65e-6 |
PROSPERO |
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176764
|
SMART Domains |
Protein: ENSMUSP00000134857 Gene: ENSMUSG00000011832
Domain | Start | End | E-Value | Type |
Blast:TBC
|
27 |
100 |
4e-8 |
BLAST |
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
TBC
|
117 |
328 |
1.57e-85 |
SMART |
coiled coil region
|
363 |
452 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
89% (34/38) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein of unknown function that contains internal regions of low complexity sequence. Alternative splicing results in multiple transcript variants. The transcript structure of the protein-coding variant at this locus is conserved between human and mouse. [provided by RefSeq, Oct 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
G |
T |
17: 42,978,568 (GRCm39) |
H258Q |
probably benign |
Het |
Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
Arhgef19 |
T |
C |
4: 140,973,660 (GRCm39) |
I49T |
possibly damaging |
Het |
Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
Cacnb3 |
G |
T |
15: 98,538,601 (GRCm39) |
G148C |
probably damaging |
Het |
Cep350 |
G |
A |
1: 155,808,621 (GRCm39) |
R652W |
probably damaging |
Het |
Cyp19a1 |
G |
A |
9: 54,093,980 (GRCm39) |
T94I |
probably damaging |
Het |
D130043K22Rik |
A |
C |
13: 25,046,679 (GRCm39) |
E360D |
probably benign |
Het |
Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
Efcab14 |
A |
C |
4: 115,597,594 (GRCm39) |
D63A |
probably damaging |
Het |
Ibtk |
T |
C |
9: 85,585,143 (GRCm39) |
E1167G |
probably benign |
Het |
Ikzf4 |
A |
T |
10: 128,479,605 (GRCm39) |
|
probably benign |
Het |
Magi3 |
T |
C |
3: 103,958,277 (GRCm39) |
K603E |
probably damaging |
Het |
Myh13 |
T |
C |
11: 67,255,636 (GRCm39) |
|
probably benign |
Het |
Nox4 |
A |
T |
7: 87,046,032 (GRCm39) |
H557L |
possibly damaging |
Het |
Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
Pdia3 |
A |
T |
2: 121,244,596 (GRCm39) |
D26V |
probably damaging |
Het |
Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
Pkn2 |
G |
A |
3: 142,509,325 (GRCm39) |
P740S |
probably benign |
Het |
Pla2r1 |
A |
T |
2: 60,252,966 (GRCm39) |
I1375K |
probably damaging |
Het |
Pld2 |
T |
C |
11: 70,432,253 (GRCm39) |
L124P |
probably damaging |
Het |
Ppp6r3 |
T |
A |
19: 3,562,037 (GRCm39) |
H208L |
probably damaging |
Het |
Ptpn1 |
T |
C |
2: 167,809,731 (GRCm39) |
I113T |
probably benign |
Het |
Ptprz1 |
T |
C |
6: 23,022,204 (GRCm39) |
I844T |
possibly damaging |
Het |
Rbl1 |
A |
G |
2: 157,034,039 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
Slc26a7 |
T |
C |
4: 14,544,197 (GRCm39) |
T369A |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
Vat1l |
T |
A |
8: 115,098,469 (GRCm39) |
M413K |
probably benign |
Het |
Vps11 |
C |
G |
9: 44,267,017 (GRCm39) |
G406A |
probably damaging |
Het |
Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
|
Other mutations in Prr36 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01410:Prr36
|
APN |
8 |
4,266,230 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01535:Prr36
|
APN |
8 |
4,264,043 (GRCm39) |
unclassified |
probably benign |
|
IGL01658:Prr36
|
APN |
8 |
4,265,243 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01710:Prr36
|
APN |
8 |
4,265,243 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01712:Prr36
|
APN |
8 |
4,265,243 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01713:Prr36
|
APN |
8 |
4,265,243 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01892:Prr36
|
APN |
8 |
4,265,243 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01893:Prr36
|
APN |
8 |
4,265,243 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02496:Prr36
|
APN |
8 |
4,266,407 (GRCm39) |
nonsense |
probably null |
|
IGL02829:Prr36
|
APN |
8 |
4,265,278 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0479:Prr36
|
UTSW |
8 |
4,263,930 (GRCm39) |
nonsense |
probably null |
|
R0667:Prr36
|
UTSW |
8 |
4,266,311 (GRCm39) |
unclassified |
probably benign |
|
R0784:Prr36
|
UTSW |
8 |
4,263,771 (GRCm39) |
unclassified |
probably benign |
|
R1737:Prr36
|
UTSW |
8 |
4,264,370 (GRCm39) |
unclassified |
probably benign |
|
R2017:Prr36
|
UTSW |
8 |
4,265,205 (GRCm39) |
missense |
probably benign |
0.02 |
R2032:Prr36
|
UTSW |
8 |
4,264,304 (GRCm39) |
unclassified |
probably benign |
|
R2430:Prr36
|
UTSW |
8 |
4,263,488 (GRCm39) |
unclassified |
probably benign |
|
R4184:Prr36
|
UTSW |
8 |
4,263,409 (GRCm39) |
unclassified |
probably benign |
|
R4393:Prr36
|
UTSW |
8 |
4,264,901 (GRCm39) |
unclassified |
probably benign |
|
R4887:Prr36
|
UTSW |
8 |
4,260,881 (GRCm39) |
missense |
probably benign |
0.01 |
R5508:Prr36
|
UTSW |
8 |
4,266,488 (GRCm39) |
missense |
probably damaging |
0.99 |
R5628:Prr36
|
UTSW |
8 |
4,266,273 (GRCm39) |
small deletion |
probably benign |
|
R6189:Prr36
|
UTSW |
8 |
4,264,177 (GRCm39) |
unclassified |
probably benign |
|
R6277:Prr36
|
UTSW |
8 |
4,264,746 (GRCm39) |
unclassified |
probably benign |
|
R7185:Prr36
|
UTSW |
8 |
4,266,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R7286:Prr36
|
UTSW |
8 |
4,265,163 (GRCm39) |
critical splice donor site |
probably benign |
|
R7338:Prr36
|
UTSW |
8 |
4,266,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R7604:Prr36
|
UTSW |
8 |
4,264,836 (GRCm39) |
missense |
unknown |
|
R7621:Prr36
|
UTSW |
8 |
4,263,150 (GRCm39) |
missense |
unknown |
|
R7699:Prr36
|
UTSW |
8 |
4,263,989 (GRCm39) |
missense |
unknown |
|
R7703:Prr36
|
UTSW |
8 |
4,262,982 (GRCm39) |
missense |
probably benign |
0.03 |
R7842:Prr36
|
UTSW |
8 |
4,260,953 (GRCm39) |
missense |
probably benign |
0.09 |
R7853:Prr36
|
UTSW |
8 |
4,263,905 (GRCm39) |
missense |
unknown |
|
R8325:Prr36
|
UTSW |
8 |
4,262,982 (GRCm39) |
missense |
probably benign |
0.03 |
R8340:Prr36
|
UTSW |
8 |
4,264,224 (GRCm39) |
missense |
unknown |
|
R8353:Prr36
|
UTSW |
8 |
4,263,831 (GRCm39) |
unclassified |
probably benign |
|
R8777-TAIL:Prr36
|
UTSW |
8 |
4,266,273 (GRCm39) |
small deletion |
probably benign |
|
R9498:Prr36
|
UTSW |
8 |
4,263,291 (GRCm39) |
missense |
unknown |
|
R9502:Prr36
|
UTSW |
8 |
4,264,775 (GRCm39) |
missense |
unknown |
|
R9757:Prr36
|
UTSW |
8 |
4,260,998 (GRCm39) |
missense |
probably damaging |
1.00 |
RF044:Prr36
|
UTSW |
8 |
4,266,273 (GRCm39) |
small deletion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGGAAAGAGAATTCTCACACAC -3'
(R):5'- TGTCCCTATCACAGGTCCAC -3'
Sequencing Primer
(F):5'- GAGAATTCTCACACACTCACACTC -3'
(R):5'- TATCACAGGTCCACGGCTGAC -3'
|
Posted On |
2015-05-14 |