Incidental Mutation 'R8340:Prr36'
| ID |
644839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr36
|
| Ensembl Gene |
ENSMUSG00000064125 |
| Gene Name |
proline rich 36 |
| Synonyms |
BC068157 |
| MMRRC Submission |
067864-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R8340 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
4259543-4267459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4264224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 481
(S481P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168386]
[ENSMUST00000175906]
[ENSMUST00000176227]
[ENSMUST00000177491]
|
| AlphaFold |
E9PV26 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000168386
AA Change: S481P
|
| SMART Domains |
Protein: ENSMUSP00000133114
Gene: ENSMUSG00000064125
AA Change: S481P
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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 |
|---|
| 3110040N11Rik |
C |
T |
7: 81,435,839 (GRCm39) |
V91M |
probably damaging |
Het |
| Actr2 |
A |
G |
11: 20,044,435 (GRCm39) |
V57A |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,184,112 (GRCm39) |
Y392C |
probably damaging |
Het |
| Armc6 |
T |
G |
8: 70,673,502 (GRCm39) |
N407T |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,005,670 (GRCm39) |
V484A |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,202,476 (GRCm39) |
V716A |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,670,013 (GRCm39) |
E550G |
probably benign |
Het |
| Cbl |
A |
G |
9: 44,070,297 (GRCm39) |
S512P |
possibly damaging |
Het |
| Chac2 |
C |
G |
11: 30,927,511 (GRCm39) |
G136A |
probably damaging |
Het |
| Crhr2 |
C |
T |
6: 55,079,831 (GRCm39) |
V170M |
probably damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,060,831 (GRCm39) |
D104V |
possibly damaging |
Het |
| Dhtkd1 |
T |
A |
2: 5,924,408 (GRCm39) |
S402C |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,876,856 (GRCm39) |
I4099V |
unknown |
Het |
| Etv3 |
A |
G |
3: 87,443,856 (GRCm39) |
D480G |
possibly damaging |
Het |
| Fam186b |
A |
T |
15: 99,177,595 (GRCm39) |
I577K |
probably benign |
Het |
| Foxe1 |
T |
C |
4: 46,344,437 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Gsdma |
T |
A |
11: 98,557,421 (GRCm39) |
V120E |
probably benign |
Het |
| Insig2 |
A |
T |
1: 121,234,946 (GRCm39) |
S153R |
probably damaging |
Het |
| Isx |
T |
A |
8: 75,616,688 (GRCm39) |
I105N |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,042,257 (GRCm39) |
E3D |
probably benign |
Het |
| Mkln1 |
G |
T |
6: 31,409,878 (GRCm39) |
R172L |
possibly damaging |
Het |
| Myrf |
A |
T |
19: 10,192,705 (GRCm39) |
S605T |
probably benign |
Het |
| Nell1 |
T |
A |
7: 49,870,021 (GRCm39) |
D232E |
probably damaging |
Het |
| Nemf |
T |
G |
12: 69,400,659 (GRCm39) |
T139P |
possibly damaging |
Het |
| Nrdc |
A |
C |
4: 108,858,351 (GRCm39) |
K108Q |
probably damaging |
Het |
| Or10c1 |
G |
T |
17: 37,522,075 (GRCm39) |
T223N |
possibly damaging |
Het |
| Or14j3 |
T |
C |
17: 37,901,034 (GRCm39) |
D70G |
probably damaging |
Het |
| Or3a10 |
G |
T |
11: 73,935,851 (GRCm39) |
P83Q |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,613,851 (GRCm39) |
S599P |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,173,130 (GRCm39) |
N224S |
probably benign |
Het |
| Poln |
A |
G |
5: 34,307,118 (GRCm39) |
S28P |
probably damaging |
Het |
| Scrn1 |
G |
A |
6: 54,511,518 (GRCm39) |
A74V |
possibly damaging |
Het |
| Slc22a22 |
T |
A |
15: 57,127,086 (GRCm39) |
|
probably null |
Het |
| Srpra |
A |
G |
9: 35,127,102 (GRCm39) |
D592G |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,926,036 (GRCm39) |
N915D |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,759,458 (GRCm39) |
K1109* |
probably null |
Het |
| Tsks |
C |
T |
7: 44,602,144 (GRCm39) |
R287W |
probably damaging |
Het |
| Ush1c |
T |
G |
7: 45,860,630 (GRCm39) |
M456L |
probably benign |
Het |
| Usp38 |
A |
G |
8: 81,712,031 (GRCm39) |
V668A |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,679,511 (GRCm39) |
Q571L |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,322,006 (GRCm39) |
D230E |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,829,972 (GRCm39) |
G60S |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,217,036 (GRCm39) |
D456G |
probably benign |
Het |
| Zfp738 |
A |
C |
13: 67,819,231 (GRCm39) |
H253Q |
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 |
|
|
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 |
|
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'- ATCTTGCAAAGACGGCGTG -3'
(R):5'- TGGACAAGGCTCACCATCAC -3'
Sequencing Primer
(F):5'- CAAAGACGGCGTGGTTCGATTAG -3'
(R):5'- AGCTCCACCCACATCTCTGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation