Incidental Mutation 'R8168:Prg4'
| ID |
633888 |
| 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 |
067594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R8168 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
150325163-150341916 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 150331601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 357
(E357D)
|
| 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: E269D
|
| SMART Domains |
Protein: ENSMUSP00000107532
Gene: ENSMUSG00000006014
AA Change: E269D
| 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: E316D
|
| SMART Domains |
Protein: ENSMUSP00000107533
Gene: ENSMUSG00000006014
AA Change: E316D
| 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: E357D
|
| SMART Domains |
Protein: ENSMUSP00000125677
Gene: ENSMUSG00000006014
AA Change: E357D
| 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: E357D
|
| SMART Domains |
Protein: ENSMUSP00000128943
Gene: ENSMUSG00000006014
AA Change: E357D
| 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: 98.7%
|
| Validation Efficiency |
100% (44/44) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,816,857 (GRCm39) |
I652T |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,624,831 (GRCm39) |
T862A |
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,560,983 (GRCm39) |
S404P |
possibly damaging |
Het |
| Catsperz |
A |
G |
19: 6,900,020 (GRCm39) |
S162P |
possibly damaging |
Het |
| Cfap410 |
G |
A |
10: 77,818,778 (GRCm39) |
A150T |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,744,739 (GRCm39) |
S2170T |
unknown |
Het |
| Copa |
A |
T |
1: 171,927,239 (GRCm39) |
H204L |
probably damaging |
Het |
| Cwc22 |
A |
C |
2: 77,757,615 (GRCm39) |
V171G |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,007,646 (GRCm39) |
|
probably null |
Het |
| Flrt1 |
G |
A |
19: 7,074,002 (GRCm39) |
L182F |
probably damaging |
Het |
| Foxf1 |
T |
C |
8: 121,811,901 (GRCm39) |
V255A |
probably damaging |
Het |
| Gnptab |
G |
T |
10: 88,254,995 (GRCm39) |
A194S |
probably benign |
Het |
| Gzf1 |
C |
T |
2: 148,526,686 (GRCm39) |
R386C |
probably damaging |
Het |
| H2-Aa |
T |
A |
17: 34,506,695 (GRCm39) |
T16S |
possibly damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,389,282 (GRCm39) |
F52S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,040,300 (GRCm39) |
N2154S |
probably benign |
Het |
| Ifi207 |
A |
C |
1: 173,557,504 (GRCm39) |
S411R |
probably benign |
Het |
| Jcad |
A |
T |
18: 4,675,094 (GRCm39) |
D952V |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,639,999 (GRCm39) |
W65R |
probably null |
Het |
| Mef2c |
G |
T |
13: 83,804,469 (GRCm39) |
L356F |
probably damaging |
Het |
| Mrgprb2 |
A |
T |
7: 48,201,767 (GRCm39) |
S319R |
probably benign |
Het |
| Mtrr |
C |
T |
13: 68,720,732 (GRCm39) |
V288I |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,711,968 (GRCm39) |
I713N |
probably damaging |
Het |
| Nelfa |
A |
T |
5: 34,079,251 (GRCm39) |
N107K |
possibly damaging |
Het |
| Nim1k |
A |
T |
13: 120,174,288 (GRCm39) |
V202D |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,752,206 (GRCm39) |
T726A |
probably benign |
Het |
| Or4p8 |
T |
A |
2: 88,727,120 (GRCm39) |
M274L |
probably benign |
Het |
| Or9m1 |
T |
A |
2: 87,733,543 (GRCm39) |
H159L |
probably damaging |
Het |
| Phaf1 |
C |
T |
8: 105,975,401 (GRCm39) |
P330L |
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,258,263 (GRCm39) |
A514T |
probably benign |
Het |
| Ptp4a3 |
T |
G |
15: 73,628,695 (GRCm39) |
Y152D |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,538,779 (GRCm39) |
C389R |
unknown |
Het |
| Rcc1 |
T |
C |
4: 132,063,096 (GRCm39) |
E170G |
probably benign |
Het |
| Spag17 |
C |
T |
3: 99,942,300 (GRCm39) |
T775M |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,141,695 (GRCm39) |
V1825D |
probably damaging |
Het |
| Tshr |
T |
A |
12: 91,478,739 (GRCm39) |
H195Q |
probably benign |
Het |
| Vmn1r174 |
A |
T |
7: 23,454,096 (GRCm39) |
D254V |
probably damaging |
Het |
| Vps13a |
A |
C |
19: 16,726,912 (GRCm39) |
I244M |
probably benign |
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 |
|
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 |
|
|
R9613:Prg4
|
UTSW |
1 |
150,331,660 (GRCm39) |
missense |
unknown |
|
|
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'- TAGGTTCAGGCTCCTTGGGA -3'
(R):5'- ACTTCAGCTAAAGAGACACGGA -3'
Sequencing Primer
(F):5'- TTCAGGCTCCTTGCGGG -3'
(R):5'- CGGAGTGCAGAGAAAACATCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation