Incidental Mutation 'R7621:Prr36'
| ID |
589147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr36
|
| Ensembl Gene |
ENSMUSG00000064125 |
| Gene Name |
proline rich 36 |
| Synonyms |
BC068157 |
| MMRRC Submission |
045688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R7621 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
4259543-4267459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4263150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 839
(I839F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168386]
[ENSMUST00000175906]
[ENSMUST00000176072]
[ENSMUST00000176227]
[ENSMUST00000177491]
|
| AlphaFold |
E9PV26 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000168386
AA Change: I839F
|
| SMART Domains |
Protein: ENSMUSP00000133114
Gene: ENSMUSG00000064125
AA Change: I839F
| 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: ENSMUST00000176072
|
| SMART Domains |
Protein: ENSMUSP00000134867
Gene: ENSMUSG00000011832
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
27 |
100 |
2e-7 |
BLAST |
|
low complexity region
|
101 |
116 |
N/A |
INTRINSIC |
|
TBC
|
117 |
328 |
1.57e-85 |
SMART |
|
internal_repeat_1
|
415 |
451 |
4.14e-7 |
PROSPERO |
|
coiled coil region
|
455 |
478 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
513 |
549 |
4.14e-7 |
PROSPERO |
|
low complexity region
|
697 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
743 |
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (45/45) |
| 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 |
|---|
| Abca9 |
T |
A |
11: 110,051,359 (GRCm39) |
K112N |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,866,087 (GRCm39) |
S232P |
probably damaging |
Het |
| Calm5 |
A |
T |
13: 3,904,629 (GRCm39) |
M108L |
possibly damaging |
Het |
| Ces1g |
A |
T |
8: 94,055,094 (GRCm39) |
V201D |
probably damaging |
Het |
| Cltc |
C |
A |
11: 86,598,312 (GRCm39) |
V1017L |
probably benign |
Het |
| Cpt1c |
C |
T |
7: 44,616,516 (GRCm39) |
R245Q |
probably damaging |
Het |
| Csrnp1 |
C |
A |
9: 119,806,158 (GRCm39) |
A39S |
probably benign |
Het |
| Elf1 |
A |
G |
14: 79,808,322 (GRCm39) |
D258G |
possibly damaging |
Het |
| Entrep1 |
A |
C |
19: 23,972,168 (GRCm39) |
S179A |
possibly damaging |
Het |
| Glipr1l1 |
A |
T |
10: 111,896,300 (GRCm39) |
D29V |
probably benign |
Het |
| Gm4340 |
T |
C |
10: 104,031,820 (GRCm39) |
V188A |
probably benign |
Het |
| Gsdma2 |
T |
C |
11: 98,540,375 (GRCm39) |
M98T |
probably benign |
Het |
| Hars1 |
A |
T |
18: 36,903,476 (GRCm39) |
D315E |
probably benign |
Het |
| Hsph1 |
A |
C |
5: 149,555,540 (GRCm39) |
Y89D |
probably damaging |
Het |
| Ighv11-2 |
T |
A |
12: 114,012,008 (GRCm39) |
D69V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,995,528 (GRCm39) |
G438D |
possibly damaging |
Het |
| Krt6a |
G |
T |
15: 101,600,187 (GRCm39) |
T355K |
possibly damaging |
Het |
| Lce1m |
T |
C |
3: 92,925,177 (GRCm39) |
|
probably null |
Het |
| Lmbrd1 |
A |
T |
1: 24,767,625 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
A |
G |
7: 45,442,841 (GRCm39) |
E508G |
probably damaging |
Het |
| Lrrc2 |
G |
A |
9: 110,809,899 (GRCm39) |
V312I |
probably benign |
Het |
| Lyn |
A |
T |
4: 3,789,834 (GRCm39) |
K477* |
probably null |
Het |
| Nfe2l2 |
T |
C |
2: 75,509,757 (GRCm39) |
D21G |
probably damaging |
Het |
| Or14c45 |
G |
A |
7: 86,176,280 (GRCm39) |
C105Y |
probably benign |
Het |
| Or4f14d |
T |
C |
2: 111,960,926 (GRCm39) |
T77A |
probably benign |
Het |
| Or55b3 |
G |
A |
7: 102,126,472 (GRCm39) |
R202C |
possibly damaging |
Het |
| Or8c15 |
T |
C |
9: 38,120,447 (GRCm39) |
F31L |
probably benign |
Het |
| Pgap6 |
C |
A |
17: 26,336,865 (GRCm39) |
P261Q |
probably benign |
Het |
| Pkm |
T |
A |
9: 59,585,441 (GRCm39) |
C474* |
probably null |
Het |
| Qtrt2 |
A |
G |
16: 43,689,303 (GRCm39) |
|
probably null |
Het |
| Ripk4 |
A |
T |
16: 97,547,125 (GRCm39) |
V379E |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 38,133,042 (GRCm39) |
P304Q |
|
Het |
| Saxo2 |
A |
T |
7: 82,297,625 (GRCm39) |
C5S |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,742 (GRCm39) |
G711D |
probably damaging |
Het |
| Sema5a |
C |
A |
15: 32,609,378 (GRCm39) |
T428N |
possibly damaging |
Het |
| Setd5 |
C |
A |
6: 113,121,010 (GRCm39) |
P1073Q |
possibly damaging |
Het |
| Sh2d5 |
T |
G |
4: 137,984,150 (GRCm39) |
C173G |
probably benign |
Het |
| Slc4a10 |
T |
G |
2: 62,080,823 (GRCm39) |
V350G |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,106,743 (GRCm39) |
C15R |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,717,295 (GRCm39) |
F940Y |
possibly damaging |
Het |
| Spata17 |
T |
A |
1: 186,854,833 (GRCm39) |
|
probably null |
Het |
| Specc1 |
A |
G |
11: 62,019,210 (GRCm39) |
N603S |
possibly damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,421,673 (GRCm39) |
D355G |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,894,426 (GRCm39) |
D807G |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,754,934 (GRCm39) |
T174A |
probably benign |
Het |
| Vmn2r52 |
A |
G |
7: 9,907,274 (GRCm39) |
Y151H |
probably benign |
Het |
| Wdr12 |
G |
A |
1: 60,136,748 (GRCm39) |
|
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 |
|
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 |
|
|
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'- GAGCAGAACTTCGACTCCAG -3'
(R):5'- CCTACAGATTCCCCTTGTGG -3'
Sequencing Primer
(F):5'- GAACTTCGACTCCAGGAAGCG -3'
(R):5'- GTGGTTTTACCTACTTTACAGACC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation