Incidental Mutation 'IGL01712:Prr36'
| ID |
278783 |
| 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 # |
IGL01712
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,776,321 (GRCm39) |
I164N |
possibly damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,865,360 (GRCm39) |
V161A |
probably benign |
Het |
| Arhgdib |
G |
A |
6: 136,901,195 (GRCm39) |
T178M |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,901,138 (GRCm39) |
I989K |
probably benign |
Het |
| Bcam |
T |
C |
7: 19,492,692 (GRCm39) |
S498G |
probably damaging |
Het |
| Bcas3 |
A |
G |
11: 85,471,874 (GRCm39) |
I728V |
probably damaging |
Het |
| Cep57 |
G |
T |
9: 13,724,713 (GRCm39) |
P119Q |
possibly damaging |
Het |
| Cimip2a |
T |
C |
2: 25,108,804 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,106,036 (GRCm39) |
I73N |
probably damaging |
Het |
| Cpa4 |
A |
G |
6: 30,590,815 (GRCm39) |
D371G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,462,429 (GRCm39) |
S3721P |
probably benign |
Het |
| Fcrla |
T |
C |
1: 170,749,192 (GRCm39) |
|
probably null |
Het |
| Foxg1 |
T |
C |
12: 49,432,403 (GRCm39) |
S379P |
possibly damaging |
Het |
| Gatm |
T |
A |
2: 122,431,306 (GRCm39) |
Y227F |
possibly damaging |
Het |
| Grid2 |
A |
T |
6: 64,642,899 (GRCm39) |
D887V |
possibly damaging |
Het |
| Gtpbp6 |
A |
T |
5: 110,252,245 (GRCm39) |
I429N |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,323,038 (GRCm39) |
|
probably benign |
Het |
| Irs4 |
T |
C |
X: 140,505,395 (GRCm39) |
N934D |
unknown |
Het |
| Kif16b |
T |
A |
2: 142,490,391 (GRCm39) |
N1257I |
probably damaging |
Het |
| L1cam |
T |
C |
X: 72,908,044 (GRCm39) |
Y169C |
probably damaging |
Het |
| L3mbtl3 |
A |
T |
10: 26,152,133 (GRCm39) |
M821K |
probably damaging |
Het |
| Lig3 |
A |
G |
11: 82,680,367 (GRCm39) |
|
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,522,063 (GRCm39) |
D32E |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,834,019 (GRCm39) |
|
probably benign |
Het |
| Mgst2 |
T |
C |
3: 51,571,992 (GRCm39) |
V40A |
probably damaging |
Het |
| Mov10l1 |
T |
C |
15: 88,908,969 (GRCm39) |
S997P |
probably damaging |
Het |
| Mycbpap |
G |
T |
11: 94,403,481 (GRCm39) |
H187Q |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,519,673 (GRCm39) |
S478T |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,848 (GRCm39) |
T267S |
probably benign |
Het |
| Or52h7 |
T |
C |
7: 104,214,226 (GRCm39) |
V266A |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,306 (GRCm39) |
I229F |
probably damaging |
Het |
| Pfas |
A |
G |
11: 68,881,886 (GRCm39) |
V933A |
probably benign |
Het |
| Phldb2 |
A |
T |
16: 45,571,792 (GRCm39) |
I1200N |
probably damaging |
Het |
| Pla2g4e |
C |
A |
2: 120,019,884 (GRCm39) |
|
probably null |
Het |
| Rhot2 |
A |
G |
17: 26,060,334 (GRCm39) |
|
probably null |
Het |
| Serpina3f |
C |
T |
12: 104,184,657 (GRCm39) |
P267L |
probably damaging |
Het |
| Sppl2a |
C |
T |
2: 126,746,823 (GRCm39) |
|
probably benign |
Het |
| Tas2r122 |
A |
T |
6: 132,688,725 (GRCm39) |
M56K |
possibly damaging |
Het |
| Tbxas1 |
A |
G |
6: 39,057,994 (GRCm39) |
T450A |
probably benign |
Het |
| Tex16 |
T |
C |
X: 111,003,451 (GRCm39) |
S87P |
probably damaging |
Het |
| Them7 |
T |
A |
2: 105,209,230 (GRCm39) |
F183L |
possibly damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,720,074 (GRCm39) |
T116A |
probably damaging |
Het |
| Tomm40 |
G |
T |
7: 19,437,288 (GRCm39) |
S224R |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,652,562 (GRCm39) |
I84N |
probably damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,393 (GRCm39) |
T79A |
probably benign |
Het |
| Vmn2r61 |
A |
T |
7: 41,909,661 (GRCm39) |
Y62F |
probably damaging |
Het |
| Zbtb42 |
T |
C |
12: 112,646,718 (GRCm39) |
C298R |
probably benign |
Het |
| Zfp395 |
G |
A |
14: 65,623,836 (GRCm39) |
E102K |
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 |
|
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 |
2015-04-16 |
Incidental Mutation