Incidental Mutation 'R2032:Prr36'
| ID |
221366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr36
|
| Ensembl Gene |
ENSMUSG00000064125 |
| Gene Name |
proline rich 36 |
| Synonyms |
BC068157 |
| MMRRC Submission |
040039-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R2032 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
4259543-4267459 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 4264304 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 |
unknown
Transcript: ENSMUST00000168386
AA Change: N454S
|
| SMART Domains |
Protein: ENSMUSP00000133114
Gene: ENSMUSG00000064125
AA Change: N454S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,585,056 (GRCm39) |
|
probably benign |
Het |
| Abca7 |
C |
T |
10: 79,844,071 (GRCm39) |
T1359M |
probably damaging |
Het |
| Acox2 |
A |
G |
14: 8,246,400 (GRCm38) |
S464P |
probably benign |
Het |
| Adgrf1 |
C |
T |
17: 43,622,166 (GRCm39) |
T801I |
probably damaging |
Het |
| Akap11 |
T |
A |
14: 78,747,477 (GRCm39) |
I1637L |
possibly damaging |
Het |
| Akap12 |
C |
A |
10: 4,306,673 (GRCm39) |
A1161D |
possibly damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,578,616 (GRCm39) |
V635D |
possibly damaging |
Het |
| Ankrd44 |
C |
T |
1: 54,762,168 (GRCm39) |
|
probably null |
Het |
| Atl2 |
A |
G |
17: 80,203,373 (GRCm39) |
V28A |
probably benign |
Het |
| Atxn3 |
A |
T |
12: 101,908,453 (GRCm39) |
L133* |
probably null |
Het |
| Bmp2 |
T |
C |
2: 133,403,216 (GRCm39) |
S256P |
probably benign |
Het |
| Ccdc121rt3 |
G |
A |
5: 112,502,978 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,348,984 (GRCm39) |
Y177N |
possibly damaging |
Het |
| Ccdc168 |
C |
A |
1: 44,100,900 (GRCm39) |
C66F |
possibly damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,844,781 (GRCm39) |
G674E |
probably damaging |
Het |
| Cep164 |
C |
T |
9: 45,682,898 (GRCm39) |
V931M |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,660,993 (GRCm39) |
|
probably benign |
Het |
| CK137956 |
T |
C |
4: 127,839,069 (GRCm39) |
T450A |
probably benign |
Het |
| Col23a1 |
G |
A |
11: 51,450,835 (GRCm39) |
G215D |
unknown |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dennd6a |
T |
C |
14: 26,325,904 (GRCm39) |
M5T |
probably benign |
Het |
| Dnajc6 |
T |
G |
4: 101,471,435 (GRCm39) |
I284S |
probably benign |
Het |
| Dolpp1 |
C |
T |
2: 30,282,453 (GRCm39) |
A2V |
probably damaging |
Het |
| Eml2 |
C |
T |
7: 18,936,480 (GRCm39) |
T711I |
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,260,622 (GRCm39) |
D1065G |
probably damaging |
Het |
| Fam110b |
G |
T |
4: 5,799,460 (GRCm39) |
A293S |
probably benign |
Het |
| Fap |
A |
G |
2: 62,372,581 (GRCm39) |
V266A |
probably benign |
Het |
| Fgf10 |
A |
T |
13: 118,852,131 (GRCm39) |
Y71F |
probably damaging |
Het |
| Gm3443 |
G |
T |
19: 21,533,164 (GRCm39) |
G43C |
probably damaging |
Het |
| Gpr146 |
T |
C |
5: 139,364,902 (GRCm39) |
|
probably benign |
Het |
| Hif3a |
A |
T |
7: 16,785,104 (GRCm39) |
L172H |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 13,061,457 (GRCm39) |
|
probably benign |
Het |
| Nlrp5 |
G |
A |
7: 23,120,937 (GRCm39) |
R717Q |
probably damaging |
Het |
| Nop14 |
A |
G |
5: 34,817,283 (GRCm39) |
V36A |
possibly damaging |
Het |
| Or10v5 |
C |
T |
19: 11,805,664 (GRCm39) |
C242Y |
probably damaging |
Het |
| Or51a39 |
A |
T |
7: 102,363,083 (GRCm39) |
I179N |
probably benign |
Het |
| Or7a41 |
T |
A |
10: 78,871,163 (GRCm39) |
F178I |
possibly damaging |
Het |
| Parp4 |
T |
A |
14: 56,866,553 (GRCm39) |
I1039K |
possibly damaging |
Het |
| Pate12 |
T |
C |
9: 36,344,195 (GRCm39) |
|
probably null |
Het |
| Pold2 |
A |
T |
11: 5,826,757 (GRCm39) |
I59N |
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,716,088 (GRCm39) |
|
probably benign |
Het |
| Recql |
C |
T |
6: 142,313,009 (GRCm39) |
G403R |
probably damaging |
Het |
| Serpina3m |
T |
A |
12: 104,355,928 (GRCm39) |
D198E |
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,906,947 (GRCm39) |
Y93N |
probably damaging |
Het |
| Slc27a3 |
C |
T |
3: 90,294,704 (GRCm39) |
R389H |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,897,035 (GRCm39) |
M417K |
probably damaging |
Het |
| Syt13 |
A |
G |
2: 92,783,746 (GRCm39) |
K339E |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,148,265 (GRCm39) |
H163Q |
probably benign |
Het |
| Tram2 |
C |
T |
1: 21,074,180 (GRCm39) |
G253R |
probably null |
Het |
| Trpv1 |
A |
G |
11: 73,129,211 (GRCm39) |
T43A |
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,039,131 (GRCm39) |
I510T |
probably damaging |
Het |
| Vmn1r224 |
C |
A |
17: 20,639,658 (GRCm39) |
D78E |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,210 (GRCm39) |
I274L |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,868,946 (GRCm39) |
V361I |
probably benign |
Het |
| Zpbp2 |
A |
T |
11: 98,445,534 (GRCm39) |
K165N |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGACGGCGTGGTTCGATTAG -3'
(R):5'- TTCACAGTCTGGACAAGGC -3'
Sequencing Primer
(F):5'- CTCAGAAAAGTTGGCCCGG -3'
(R):5'- GTCTGGACAAGGCTCACCATC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation