Incidental Mutation 'R5628:Prr36'
ID |
441929 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr36
|
Ensembl Gene |
ENSMUSG00000064125 |
Gene Name |
proline rich 36 |
Synonyms |
BC068157 |
MMRRC Submission |
043167-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R5628 (G1)
|
Quality Score |
111 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
4259543-4267459 bp(-) (GRCm39) |
Type of Mutation |
small deletion (8 aa in frame mutation) |
DNA Base Change (assembly) |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC to TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC
at 4266273 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 |
probably benign
Transcript: ENSMUST00000168386
|
SMART Domains |
Protein: ENSMUSP00000133114 Gene: ENSMUSG00000064125
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: 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
A |
G |
8: 41,208,747 (GRCm39) |
D671G |
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,613,556 (GRCm39) |
D685G |
unknown |
Het |
Atp6v1h |
G |
A |
1: 5,206,112 (GRCm39) |
W358* |
probably null |
Het |
Atr |
T |
A |
9: 95,756,279 (GRCm39) |
Y830* |
probably null |
Het |
B3galnt2 |
A |
T |
13: 14,169,737 (GRCm39) |
|
probably null |
Het |
Casz1 |
T |
C |
4: 149,030,553 (GRCm39) |
Y1191H |
probably damaging |
Het |
Cdc40 |
T |
G |
10: 40,727,049 (GRCm39) |
E169D |
probably benign |
Het |
Cep55 |
C |
T |
19: 38,058,396 (GRCm39) |
Q330* |
probably null |
Het |
Clcn1 |
T |
C |
6: 42,275,823 (GRCm39) |
V315A |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,226,218 (GRCm39) |
F2957L |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dync1li2 |
T |
C |
8: 105,147,224 (GRCm39) |
N490S |
possibly damaging |
Het |
Ephb3 |
T |
C |
16: 21,036,869 (GRCm39) |
Y111H |
probably damaging |
Het |
Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 15,877,392 (GRCm39) |
Y3407C |
probably damaging |
Het |
Fbxw8 |
A |
G |
5: 118,230,622 (GRCm39) |
V393A |
probably damaging |
Het |
Fnip1 |
A |
T |
11: 54,394,459 (GRCm39) |
D965V |
probably benign |
Het |
Gramd2a |
T |
C |
9: 59,615,006 (GRCm39) |
M3T |
probably benign |
Het |
Kctd15 |
T |
C |
7: 34,339,720 (GRCm39) |
D283G |
probably damaging |
Het |
Kif9 |
C |
T |
9: 110,343,621 (GRCm39) |
R547* |
probably null |
Het |
Map4 |
A |
G |
9: 109,910,915 (GRCm39) |
T245A |
probably benign |
Het |
Mindy4 |
C |
T |
6: 55,237,579 (GRCm39) |
L385F |
probably damaging |
Het |
Myo7b |
A |
G |
18: 32,107,240 (GRCm39) |
C1252R |
probably benign |
Het |
Myt1l |
T |
A |
12: 29,861,620 (GRCm39) |
I134N |
unknown |
Het |
Or5m10b |
T |
A |
2: 85,699,149 (GRCm39) |
I71N |
probably damaging |
Het |
Osgin2 |
T |
A |
4: 15,998,998 (GRCm39) |
N208I |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,461,063 (GRCm39) |
V29M |
probably damaging |
Het |
Prdm15 |
T |
A |
16: 97,600,823 (GRCm39) |
M812L |
probably damaging |
Het |
Rev3l |
T |
A |
10: 39,698,963 (GRCm39) |
N1153K |
probably damaging |
Het |
Rnf17 |
A |
G |
14: 56,724,409 (GRCm39) |
|
probably null |
Het |
Rusc2 |
C |
T |
4: 43,425,348 (GRCm39) |
T1151M |
probably damaging |
Het |
Scrib |
T |
C |
15: 75,921,389 (GRCm39) |
T30A |
possibly damaging |
Het |
Sephs1 |
T |
C |
2: 4,894,018 (GRCm39) |
I73T |
probably benign |
Het |
Sf3b1 |
C |
T |
1: 55,037,334 (GRCm39) |
A861T |
probably benign |
Het |
Shq1 |
A |
G |
6: 100,607,964 (GRCm39) |
W316R |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 22,021,974 (GRCm39) |
D484V |
probably benign |
Het |
Smg1 |
C |
T |
7: 117,753,924 (GRCm39) |
|
probably benign |
Het |
Stard5 |
T |
C |
7: 83,282,355 (GRCm39) |
I56T |
probably benign |
Het |
Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
Tmem217 |
A |
T |
17: 29,745,430 (GRCm39) |
I100N |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,748,470 (GRCm39) |
R1400Q |
probably benign |
Het |
Vmn1r82 |
T |
G |
7: 12,039,205 (GRCm39) |
N41K |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,675,247 (GRCm39) |
D367G |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,621,663 (GRCm39) |
V244E |
probably benign |
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 |
|
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 |
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'- AGAAATAGAGCCCTGGCCAG -3'
(R):5'- TTAGGTGCGGTATGGACAAG -3'
Sequencing Primer
(F):5'- CTGGCCAGGGGTCTTCATAG -3'
(R):5'- CGCGAATGCCGTCTTCAC -3'
|
Posted On |
2016-11-08 |