Incidental Mutation 'R9613:Prg4'
ID |
724361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prg4
|
Ensembl Gene |
ENSMUSG00000006014 |
Gene Name |
proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein) |
Synonyms |
MSF, SZP, lubricin, DOL54 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R9613 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
150325163-150341916 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 150331660 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 338
(T338A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006171]
[ENSMUST00000111901]
[ENSMUST00000111902]
[ENSMUST00000159035]
[ENSMUST00000161320]
[ENSMUST00000161611]
[ENSMUST00000162367]
[ENSMUST00000164600]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006171
|
SMART Domains |
Protein: ENSMUSP00000006171 Gene: ENSMUSG00000006014
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SO
|
26 |
68 |
9.21e-18 |
SMART |
SO
|
69 |
108 |
4.21e-12 |
SMART |
low complexity region
|
110 |
124 |
N/A |
INTRINSIC |
HX
|
169 |
211 |
1.67e-7 |
SMART |
HX
|
213 |
256 |
3.76e-10 |
SMART |
Blast:HX
|
369 |
422 |
2e-27 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000111901
AA Change: T250A
|
SMART Domains |
Protein: ENSMUSP00000107532 Gene: ENSMUSG00000006014 AA Change: T250A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SO
|
26 |
68 |
9.21e-18 |
SMART |
SO
|
69 |
108 |
4.21e-12 |
SMART |
low complexity region
|
110 |
124 |
N/A |
INTRINSIC |
low complexity region
|
141 |
151 |
N/A |
INTRINSIC |
low complexity region
|
189 |
221 |
N/A |
INTRINSIC |
low complexity region
|
241 |
535 |
N/A |
INTRINSIC |
low complexity region
|
570 |
623 |
N/A |
INTRINSIC |
HX
|
711 |
753 |
1.67e-7 |
SMART |
HX
|
755 |
798 |
3.76e-10 |
SMART |
Blast:HX
|
911 |
964 |
5e-27 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000111902
AA Change: T297A
|
SMART Domains |
Protein: ENSMUSP00000107533 Gene: ENSMUSG00000006014 AA Change: T297A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SO
|
25 |
67 |
2.71e-15 |
SMART |
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
low complexity region
|
86 |
143 |
N/A |
INTRINSIC |
low complexity region
|
150 |
171 |
N/A |
INTRINSIC |
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
low complexity region
|
236 |
268 |
N/A |
INTRINSIC |
low complexity region
|
288 |
582 |
N/A |
INTRINSIC |
internal_repeat_1
|
588 |
614 |
2.72e-5 |
PROSPERO |
low complexity region
|
617 |
670 |
N/A |
INTRINSIC |
internal_repeat_1
|
680 |
706 |
2.72e-5 |
PROSPERO |
HX
|
758 |
800 |
1.67e-7 |
SMART |
HX
|
802 |
845 |
3.76e-10 |
SMART |
Blast:HX
|
958 |
1011 |
4e-27 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159035
|
SMART Domains |
Protein: ENSMUSP00000124410 Gene: ENSMUSG00000006014
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SO
|
25 |
67 |
2.71e-15 |
SMART |
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
low complexity region
|
88 |
99 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161320
|
SMART Domains |
Protein: ENSMUSP00000124801 Gene: ENSMUSG00000006014
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SO
|
25 |
67 |
3.83e-15 |
SMART |
low complexity region
|
69 |
83 |
N/A |
INTRINSIC |
low complexity region
|
100 |
110 |
N/A |
INTRINSIC |
low complexity region
|
148 |
179 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161611
AA Change: T338A
|
SMART Domains |
Protein: ENSMUSP00000125677 Gene: ENSMUSG00000006014 AA Change: T338A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SO
|
26 |
68 |
9.21e-18 |
SMART |
SO
|
69 |
108 |
2.77e-12 |
SMART |
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
low complexity region
|
127 |
184 |
N/A |
INTRINSIC |
low complexity region
|
191 |
212 |
N/A |
INTRINSIC |
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
internal_repeat_3
|
244 |
271 |
7.42e-5 |
PROSPERO |
low complexity region
|
277 |
309 |
N/A |
INTRINSIC |
Pfam:Cornifin
|
578 |
691 |
2.2e-9 |
PFAM |
internal_repeat_3
|
796 |
825 |
7.42e-5 |
PROSPERO |
internal_repeat_2
|
797 |
823 |
1.24e-5 |
PROSPERO |
low complexity region
|
826 |
879 |
N/A |
INTRINSIC |
internal_repeat_2
|
889 |
915 |
1.24e-5 |
PROSPERO |
HX
|
967 |
1009 |
1.67e-7 |
SMART |
HX
|
1011 |
1054 |
3.76e-10 |
SMART |
Blast:HX
|
1167 |
1220 |
6e-27 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162367
|
SMART Domains |
Protein: ENSMUSP00000125551 Gene: ENSMUSG00000006014
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SO
|
26 |
68 |
9.21e-18 |
SMART |
SO
|
69 |
108 |
4.21e-12 |
SMART |
low complexity region
|
110 |
124 |
N/A |
INTRINSIC |
HX
|
169 |
211 |
1.67e-7 |
SMART |
HX
|
213 |
256 |
3.76e-10 |
SMART |
Blast:HX
|
369 |
422 |
2e-27 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000164600
AA Change: T338A
|
SMART Domains |
Protein: ENSMUSP00000128943 Gene: ENSMUSG00000006014 AA Change: T338A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SO
|
26 |
68 |
9.21e-18 |
SMART |
SO
|
69 |
108 |
2.77e-12 |
SMART |
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
low complexity region
|
127 |
184 |
N/A |
INTRINSIC |
low complexity region
|
191 |
212 |
N/A |
INTRINSIC |
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
internal_repeat_3
|
244 |
271 |
7.42e-5 |
PROSPERO |
low complexity region
|
277 |
309 |
N/A |
INTRINSIC |
Pfam:Cornifin
|
404 |
497 |
2.4e-14 |
PFAM |
Pfam:Cornifin
|
468 |
584 |
3.2e-15 |
PFAM |
Pfam:Cornifin
|
550 |
648 |
3.3e-16 |
PFAM |
Pfam:Cornifin
|
625 |
722 |
2.1e-15 |
PFAM |
Pfam:Cornifin
|
647 |
743 |
7.8e-16 |
PFAM |
Pfam:Cornifin
|
706 |
822 |
1.4e-12 |
PFAM |
low complexity region
|
826 |
879 |
N/A |
INTRINSIC |
internal_repeat_2
|
889 |
915 |
1.24e-5 |
PROSPERO |
HX
|
967 |
1009 |
1.67e-7 |
SMART |
HX
|
1011 |
1054 |
3.76e-10 |
SMART |
Blast:HX
|
1167 |
1220 |
6e-27 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Aging homozygous null mice develop a hopping gait, irregular endochondral growth plates, altered cartilage surface, camptodactyly, progressive synovial hyperplasia and, ultimately, joint failure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
A |
3: 137,771,126 (GRCm39) |
R105H |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,731,824 (GRCm39) |
N2071K |
probably benign |
Het |
Chd9 |
C |
A |
8: 91,683,150 (GRCm39) |
S530* |
probably null |
Het |
Col6a6 |
G |
A |
9: 105,616,401 (GRCm39) |
H1558Y |
probably benign |
Het |
Cyp7a1 |
A |
G |
4: 6,272,587 (GRCm39) |
F209L |
probably damaging |
Het |
D430041D05Rik |
A |
G |
2: 104,060,737 (GRCm39) |
Y702H |
probably benign |
Het |
Ddx46 |
T |
A |
13: 55,787,749 (GRCm39) |
|
probably null |
Het |
Dgat2 |
C |
G |
7: 98,831,692 (GRCm39) |
G10R |
probably benign |
Het |
Dync2h1 |
T |
A |
9: 7,075,769 (GRCm39) |
M3033L |
probably damaging |
Het |
Eef1g |
A |
G |
19: 8,955,018 (GRCm39) |
N367S |
probably benign |
Het |
Eef2kmt |
T |
G |
16: 5,067,272 (GRCm39) |
E94A |
possibly damaging |
Het |
Ermp1 |
C |
A |
19: 29,617,256 (GRCm39) |
|
probably null |
Het |
Ewsr1 |
A |
C |
11: 5,028,924 (GRCm39) |
D346E |
unknown |
Het |
Fam227a |
G |
A |
15: 79,518,284 (GRCm39) |
T340M |
probably benign |
Het |
Fxr1 |
G |
A |
3: 34,100,352 (GRCm39) |
V104I |
probably benign |
Het |
Gm6176 |
A |
G |
7: 21,750,529 (GRCm39) |
V134A |
possibly damaging |
Het |
Igdcc4 |
G |
A |
9: 65,027,522 (GRCm39) |
V195I |
possibly damaging |
Het |
Ighv2-5 |
A |
G |
12: 113,649,189 (GRCm39) |
I88T |
|
Het |
Irf8 |
A |
T |
8: 121,481,207 (GRCm39) |
T355S |
probably benign |
Het |
Kif20b |
T |
A |
19: 34,919,934 (GRCm39) |
S751T |
possibly damaging |
Het |
Kitl |
A |
G |
10: 99,916,781 (GRCm39) |
N195D |
probably damaging |
Het |
Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
G |
4: 123,420,288 (GRCm39) |
F322S |
probably benign |
Het |
Map6 |
T |
C |
7: 98,918,384 (GRCm39) |
S386P |
possibly damaging |
Het |
Nup214 |
A |
G |
2: 31,901,035 (GRCm39) |
D906G |
possibly damaging |
Het |
Oacyl |
A |
C |
18: 65,864,524 (GRCm39) |
T356P |
probably damaging |
Het |
Or1e28-ps1 |
A |
T |
11: 73,615,639 (GRCm39) |
D70E |
probably damaging |
Het |
Or2at1 |
A |
G |
7: 99,416,536 (GRCm39) |
T56A |
probably benign |
Het |
Plekha1 |
C |
A |
7: 130,479,488 (GRCm39) |
P2H |
probably damaging |
Het |
Plekhg4 |
T |
A |
8: 106,107,620 (GRCm39) |
D1050E |
probably damaging |
Het |
Plxnb2 |
T |
C |
15: 89,048,496 (GRCm39) |
T638A |
probably benign |
Het |
Pole4 |
T |
C |
6: 82,629,099 (GRCm39) |
Q89R |
probably benign |
Het |
Prpf3 |
G |
A |
3: 95,758,931 (GRCm39) |
R74* |
probably null |
Het |
Prss44 |
C |
A |
9: 110,643,806 (GRCm39) |
A150E |
probably damaging |
Het |
Prss51 |
T |
A |
14: 64,332,461 (GRCm39) |
V2E |
possibly damaging |
Het |
Ptpn12 |
A |
G |
5: 21,203,621 (GRCm39) |
Y386H |
probably damaging |
Het |
Septin4 |
A |
T |
11: 87,469,823 (GRCm39) |
H3L |
possibly damaging |
Het |
Spata16 |
G |
A |
3: 26,932,814 (GRCm39) |
V347M |
probably damaging |
Het |
Spata31f1e |
A |
G |
4: 42,792,992 (GRCm39) |
V380A |
probably benign |
Het |
Spinkl |
T |
A |
18: 44,301,212 (GRCm39) |
Y42F |
probably damaging |
Het |
Suds3 |
A |
T |
5: 117,243,234 (GRCm39) |
M168K |
possibly damaging |
Het |
Tdrd6 |
A |
G |
17: 43,939,518 (GRCm39) |
I510T |
probably damaging |
Het |
Tnfrsf22 |
T |
C |
7: 143,198,583 (GRCm39) |
H44R |
probably benign |
Het |
Trh |
G |
A |
6: 92,219,840 (GRCm39) |
R159* |
probably null |
Het |
Ubr4 |
C |
A |
4: 139,149,073 (GRCm39) |
S457R |
|
Het |
Usp54 |
T |
C |
14: 20,600,438 (GRCm39) |
Y1433C |
probably damaging |
Het |
Vmn1r120 |
G |
A |
7: 20,787,046 (GRCm39) |
L222F |
probably benign |
Het |
Vmn2r22 |
T |
C |
6: 123,615,075 (GRCm39) |
I172V |
probably damaging |
Het |
Vmn2r84 |
A |
G |
10: 130,226,591 (GRCm39) |
S416P |
probably damaging |
Het |
Wapl |
T |
C |
14: 34,453,520 (GRCm39) |
V855A |
probably benign |
Het |
Zmynd19 |
A |
G |
2: 24,848,217 (GRCm39) |
I177V |
|
Het |
Zscan4e |
G |
A |
7: 11,040,898 (GRCm39) |
Q325* |
probably null |
Het |
|
Other mutations in Prg4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Prg4
|
APN |
1 |
150,327,671 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02033:Prg4
|
APN |
1 |
150,331,619 (GRCm39) |
intron |
probably benign |
|
IGL02154:Prg4
|
APN |
1 |
150,330,613 (GRCm39) |
intron |
probably benign |
|
IGL03111:Prg4
|
APN |
1 |
150,327,653 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03177:Prg4
|
APN |
1 |
150,331,354 (GRCm39) |
intron |
probably benign |
|
IGL03260:Prg4
|
APN |
1 |
150,331,378 (GRCm39) |
intron |
probably benign |
|
IGL03281:Prg4
|
APN |
1 |
150,325,839 (GRCm39) |
splice site |
probably benign |
|
R0046:Prg4
|
UTSW |
1 |
150,331,837 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0046:Prg4
|
UTSW |
1 |
150,331,837 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0196:Prg4
|
UTSW |
1 |
150,330,243 (GRCm39) |
intron |
probably benign |
|
R0233:Prg4
|
UTSW |
1 |
150,329,298 (GRCm39) |
splice site |
probably benign |
|
R0255:Prg4
|
UTSW |
1 |
150,331,558 (GRCm39) |
intron |
probably benign |
|
R0616:Prg4
|
UTSW |
1 |
150,336,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R1016:Prg4
|
UTSW |
1 |
150,330,442 (GRCm39) |
intron |
probably benign |
|
R1826:Prg4
|
UTSW |
1 |
150,327,760 (GRCm39) |
missense |
probably benign |
0.09 |
R1862:Prg4
|
UTSW |
1 |
150,336,420 (GRCm39) |
missense |
probably damaging |
0.99 |
R1863:Prg4
|
UTSW |
1 |
150,336,420 (GRCm39) |
missense |
probably damaging |
0.99 |
R1922:Prg4
|
UTSW |
1 |
150,325,750 (GRCm39) |
nonsense |
probably null |
|
R1940:Prg4
|
UTSW |
1 |
150,331,774 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3765:Prg4
|
UTSW |
1 |
150,327,122 (GRCm39) |
missense |
probably damaging |
0.97 |
R3855:Prg4
|
UTSW |
1 |
150,327,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R3894:Prg4
|
UTSW |
1 |
150,330,510 (GRCm39) |
intron |
probably benign |
|
R3895:Prg4
|
UTSW |
1 |
150,330,510 (GRCm39) |
intron |
probably benign |
|
R3912:Prg4
|
UTSW |
1 |
150,327,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R3935:Prg4
|
UTSW |
1 |
150,333,908 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4050:Prg4
|
UTSW |
1 |
150,330,510 (GRCm39) |
intron |
probably benign |
|
R4475:Prg4
|
UTSW |
1 |
150,330,610 (GRCm39) |
intron |
probably benign |
|
R4794:Prg4
|
UTSW |
1 |
150,330,297 (GRCm39) |
intron |
probably benign |
|
R4910:Prg4
|
UTSW |
1 |
150,331,574 (GRCm39) |
intron |
probably benign |
|
R4911:Prg4
|
UTSW |
1 |
150,331,574 (GRCm39) |
intron |
probably benign |
|
R4993:Prg4
|
UTSW |
1 |
150,336,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R5378:Prg4
|
UTSW |
1 |
150,330,977 (GRCm39) |
intron |
probably benign |
|
R5381:Prg4
|
UTSW |
1 |
150,330,204 (GRCm39) |
intron |
probably benign |
|
R5452:Prg4
|
UTSW |
1 |
150,331,519 (GRCm39) |
intron |
probably benign |
|
R5870:Prg4
|
UTSW |
1 |
150,331,300 (GRCm39) |
nonsense |
probably null |
|
R5888:Prg4
|
UTSW |
1 |
150,328,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R5929:Prg4
|
UTSW |
1 |
150,329,880 (GRCm39) |
missense |
probably benign |
0.01 |
R6058:Prg4
|
UTSW |
1 |
150,327,197 (GRCm39) |
missense |
probably damaging |
0.99 |
R6059:Prg4
|
UTSW |
1 |
150,325,748 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6232:Prg4
|
UTSW |
1 |
150,331,567 (GRCm39) |
intron |
probably benign |
|
R6272:Prg4
|
UTSW |
1 |
150,330,517 (GRCm39) |
intron |
probably benign |
|
R6459:Prg4
|
UTSW |
1 |
150,330,052 (GRCm39) |
intron |
probably benign |
|
R6659:Prg4
|
UTSW |
1 |
150,336,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R6663:Prg4
|
UTSW |
1 |
150,330,852 (GRCm39) |
intron |
probably benign |
|
R6882:Prg4
|
UTSW |
1 |
150,329,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R6970:Prg4
|
UTSW |
1 |
150,331,657 (GRCm39) |
intron |
probably benign |
|
R7078:Prg4
|
UTSW |
1 |
150,334,014 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7102:Prg4
|
UTSW |
1 |
150,328,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R7264:Prg4
|
UTSW |
1 |
150,329,818 (GRCm39) |
missense |
not run |
|
R7487:Prg4
|
UTSW |
1 |
150,331,656 (GRCm39) |
missense |
unknown |
|
R7531:Prg4
|
UTSW |
1 |
150,330,786 (GRCm39) |
missense |
unknown |
|
R7651:Prg4
|
UTSW |
1 |
150,330,696 (GRCm39) |
missense |
unknown |
|
R7701:Prg4
|
UTSW |
1 |
150,333,293 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8072:Prg4
|
UTSW |
1 |
150,331,774 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8168:Prg4
|
UTSW |
1 |
150,331,601 (GRCm39) |
missense |
unknown |
|
R8248:Prg4
|
UTSW |
1 |
150,330,877 (GRCm39) |
missense |
unknown |
|
R8436:Prg4
|
UTSW |
1 |
150,331,318 (GRCm39) |
missense |
unknown |
|
R8460:Prg4
|
UTSW |
1 |
150,331,692 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8514:Prg4
|
UTSW |
1 |
150,330,396 (GRCm39) |
missense |
unknown |
|
R8904:Prg4
|
UTSW |
1 |
150,331,810 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9072:Prg4
|
UTSW |
1 |
150,331,288 (GRCm39) |
missense |
unknown |
|
R9073:Prg4
|
UTSW |
1 |
150,331,288 (GRCm39) |
missense |
unknown |
|
R9274:Prg4
|
UTSW |
1 |
150,331,924 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9337:Prg4
|
UTSW |
1 |
150,327,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R9488:Prg4
|
UTSW |
1 |
150,327,024 (GRCm39) |
missense |
probably benign |
|
R9670:Prg4
|
UTSW |
1 |
150,326,618 (GRCm39) |
missense |
probably benign |
0.01 |
X0024:Prg4
|
UTSW |
1 |
150,330,243 (GRCm39) |
intron |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGGTTCAGGCTCCTTGGGA -3'
(R):5'- CTGAGACATCCAAAGAGGCATCT -3'
Sequencing Primer
(F):5'- AGTGGTGGGTTCAGGCTCC -3'
(R):5'- GAGGCATCTTTAGCATCCAATAAAG -3'
|
Posted On |
2022-09-12 |