Incidental Mutation 'IGL01893:Prr36'
| ID |
279025 |
| 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: 0.112)
|
| Stock # |
IGL01893
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
4259543-4267459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4265243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 169
(P169L)
|
| 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: P169L
|
| SMART Domains |
Protein: ENSMUSP00000133114
Gene: ENSMUSG00000064125
AA Change: P169L
| 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 damaging
Transcript: ENSMUST00000177491
AA Change: P169L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135130
Gene: ENSMUSG00000064125
AA Change: P169L
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
A |
3: 116,582,198 (GRCm39) |
I275F |
probably damaging |
Het |
| Avil |
G |
A |
10: 126,856,415 (GRCm39) |
E815K |
possibly damaging |
Het |
| Car9 |
T |
A |
4: 43,510,252 (GRCm39) |
I278N |
probably damaging |
Het |
| Cast |
T |
A |
13: 74,875,408 (GRCm39) |
K480* |
probably null |
Het |
| Cenpj |
A |
G |
14: 56,790,931 (GRCm39) |
F373L |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,204,366 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
G |
A |
14: 87,156,288 (GRCm39) |
T675I |
possibly damaging |
Het |
| Dip2b |
A |
T |
15: 100,069,101 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,988,427 (GRCm39) |
D3425G |
probably damaging |
Het |
| Dolk |
A |
G |
2: 30,175,926 (GRCm39) |
Y40H |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,866,736 (GRCm39) |
|
probably benign |
Het |
| Dusp15 |
A |
G |
2: 152,790,956 (GRCm39) |
|
probably null |
Het |
| Edrf1 |
T |
C |
7: 133,258,831 (GRCm39) |
F770L |
probably benign |
Het |
| Gabra1 |
T |
C |
11: 42,024,586 (GRCm39) |
K363R |
possibly damaging |
Het |
| Glipr1l1 |
A |
C |
10: 111,912,074 (GRCm39) |
T203P |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| H2-Q10 |
T |
C |
17: 35,784,168 (GRCm39) |
S270P |
probably damaging |
Het |
| Hipk2 |
A |
T |
6: 38,795,330 (GRCm39) |
M313K |
probably benign |
Het |
| Htt |
T |
A |
5: 35,034,174 (GRCm39) |
I1920N |
probably damaging |
Het |
| Lsr |
A |
T |
7: 30,661,657 (GRCm39) |
V210E |
possibly damaging |
Het |
| Mbtd1 |
A |
T |
11: 93,812,238 (GRCm39) |
I181L |
probably null |
Het |
| Mettl16 |
A |
T |
11: 74,696,097 (GRCm39) |
T273S |
possibly damaging |
Het |
| Mlst8 |
T |
C |
17: 24,696,961 (GRCm39) |
N74D |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,383,174 (GRCm39) |
I102T |
probably damaging |
Het |
| Nme7 |
C |
T |
1: 164,172,850 (GRCm39) |
A187V |
probably damaging |
Het |
| Nphp1 |
A |
T |
2: 127,611,564 (GRCm39) |
W261R |
probably damaging |
Het |
| Or12e13 |
G |
T |
2: 87,664,207 (GRCm39) |
G275* |
probably null |
Het |
| Or2h2 |
A |
G |
17: 37,396,760 (GRCm39) |
L99P |
probably damaging |
Het |
| Or4f14 |
A |
T |
2: 111,742,589 (GRCm39) |
S229T |
possibly damaging |
Het |
| Orc6 |
A |
G |
8: 86,034,272 (GRCm39) |
D165G |
probably damaging |
Het |
| Ovca2 |
A |
G |
11: 75,069,133 (GRCm39) |
S89P |
probably benign |
Het |
| Pcdhb12 |
T |
G |
18: 37,570,263 (GRCm39) |
S470A |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,122,932 (GRCm39) |
T397A |
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,860,337 (GRCm39) |
L50P |
probably damaging |
Het |
| Serpinb11 |
C |
A |
1: 107,305,387 (GRCm39) |
S254R |
probably benign |
Het |
| Serpinb11 |
C |
A |
1: 107,305,388 (GRCm39) |
Q255K |
probably benign |
Het |
| Skap2 |
T |
C |
6: 51,851,556 (GRCm39) |
T79A |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Tbx19 |
A |
T |
1: 164,967,767 (GRCm39) |
S327T |
possibly damaging |
Het |
| Themis3 |
A |
G |
17: 66,866,622 (GRCm39) |
L206P |
possibly damaging |
Het |
| Tmem132c |
T |
A |
5: 127,540,093 (GRCm39) |
L373Q |
possibly damaging |
Het |
| Unc13c |
G |
T |
9: 73,600,648 (GRCm39) |
N1365K |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,497,730 (GRCm39) |
M503K |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r33 |
A |
G |
7: 7,566,776 (GRCm39) |
I112T |
probably benign |
Het |
| Vps13a |
A |
C |
19: 16,641,139 (GRCm39) |
W2328G |
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 |
|
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 |
2015-04-16 |
Incidental Mutation