Incidental Mutation 'IGL01535:Prr36'
ID |
89927 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prr36
|
Ensembl Gene |
ENSMUSG00000064125 |
Gene Name |
proline rich 36 |
Synonyms |
BC068157 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
IGL01535
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
4259543-4267459 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 4264043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135130
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168386]
[ENSMUST00000175906]
[ENSMUST00000176227]
[ENSMUST00000177491]
|
AlphaFold |
E9PV26 |
Predicted Effect |
unknown
Transcript: ENSMUST00000168386
AA Change: L541Q
|
SMART Domains |
Protein: ENSMUSP00000133114 Gene: ENSMUSG00000064125 AA Change: L541Q
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 |
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: ENSMUST00000176227
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176645
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
T |
A |
18: 59,101,891 (GRCm39) |
S654T |
probably benign |
Het |
Brd10 |
T |
C |
19: 29,731,212 (GRCm39) |
H600R |
possibly damaging |
Het |
Cacnb3 |
A |
T |
15: 98,537,469 (GRCm39) |
Q49L |
probably benign |
Het |
Dapk1 |
A |
G |
13: 60,878,845 (GRCm39) |
|
probably benign |
Het |
Dop1b |
T |
A |
16: 93,566,846 (GRCm39) |
L1091* |
probably null |
Het |
Epb42 |
A |
G |
2: 120,858,169 (GRCm39) |
V263A |
probably damaging |
Het |
Fig4 |
T |
G |
10: 41,132,490 (GRCm39) |
S439R |
probably benign |
Het |
Gatc |
A |
T |
5: 115,479,048 (GRCm39) |
V54E |
possibly damaging |
Het |
Hook2 |
T |
C |
8: 85,729,618 (GRCm39) |
L686P |
probably benign |
Het |
Med12l |
A |
T |
3: 59,169,680 (GRCm39) |
T1615S |
probably damaging |
Het |
Msr1 |
C |
T |
8: 40,064,714 (GRCm39) |
G320D |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,256,414 (GRCm39) |
F220I |
probably damaging |
Het |
Or14j2 |
T |
A |
17: 37,885,679 (GRCm39) |
I212F |
possibly damaging |
Het |
Or2l5 |
G |
A |
16: 19,334,228 (GRCm39) |
H53Y |
probably benign |
Het |
Pcdh10 |
A |
T |
3: 45,334,078 (GRCm39) |
I131F |
probably damaging |
Het |
Phlpp2 |
A |
G |
8: 110,660,697 (GRCm39) |
E784G |
possibly damaging |
Het |
Ptprq |
G |
A |
10: 107,535,457 (GRCm39) |
S436L |
probably benign |
Het |
Rock1 |
T |
A |
18: 10,132,119 (GRCm39) |
|
probably benign |
Het |
Sash1 |
T |
G |
10: 8,617,341 (GRCm39) |
T522P |
probably damaging |
Het |
Serpinb2 |
T |
C |
1: 107,447,503 (GRCm39) |
|
probably null |
Het |
Supt16 |
T |
C |
14: 52,414,647 (GRCm39) |
K422E |
probably damaging |
Het |
Syt14 |
T |
G |
1: 192,669,073 (GRCm39) |
D60A |
probably damaging |
Het |
Tbc1d2b |
A |
C |
9: 90,097,526 (GRCm39) |
|
probably benign |
Het |
Thsd7b |
T |
C |
1: 129,605,954 (GRCm39) |
I565T |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,564,536 (GRCm39) |
Y28534H |
probably damaging |
Het |
Vmn1r177 |
T |
A |
7: 23,565,765 (GRCm39) |
H37L |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,455,103 (GRCm39) |
N671Y |
possibly 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 |
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 |
|
R4160:Prr36
|
UTSW |
8 |
4,262,910 (GRCm39) |
missense |
probably benign |
0.10 |
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 |
|
|
Posted On |
2013-12-03 |