Incidental Mutation 'R8072:Prg4'
ID |
620269 |
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 |
067507-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R8072 (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 150331774 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 300
(T300A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128943
(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 |
probably benign
Transcript: ENSMUST00000111901
AA Change: T212A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000107532 Gene: ENSMUSG00000006014 AA Change: T212A
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 |
possibly damaging
Transcript: ENSMUST00000111902
AA Change: T259A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000107533 Gene: ENSMUSG00000006014 AA Change: T259A
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 |
unknown
Transcript: ENSMUST00000161320
AA Change: T171A
|
SMART Domains |
Protein: ENSMUSP00000124801 Gene: ENSMUSG00000006014 AA Change: T171A
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 |
possibly damaging
Transcript: ENSMUST00000161611
AA Change: T300A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000125677 Gene: ENSMUSG00000006014 AA Change: T300A
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 |
possibly damaging
Transcript: ENSMUST00000164600
AA Change: T300A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128943 Gene: ENSMUSG00000006014 AA Change: T300A
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,244,574 (GRCm39) |
S2146P |
probably benign |
Het |
Acad9 |
G |
A |
3: 36,129,404 (GRCm39) |
V160I |
probably benign |
Het |
Ace |
T |
C |
11: 105,863,785 (GRCm39) |
V411A |
probably damaging |
Het |
Ankrd66 |
T |
C |
17: 43,854,526 (GRCm39) |
E2G |
possibly damaging |
Het |
Apol6 |
A |
T |
15: 76,935,303 (GRCm39) |
T191S |
probably benign |
Het |
Arhgef17 |
T |
A |
7: 100,531,004 (GRCm39) |
T352S |
probably benign |
Het |
Atad2 |
C |
T |
15: 57,963,374 (GRCm39) |
R1081Q |
possibly damaging |
Het |
Atg3 |
G |
T |
16: 45,008,048 (GRCm39) |
V297F |
probably damaging |
Het |
Atp9b |
A |
C |
18: 80,808,276 (GRCm39) |
S663A |
|
Het |
Col10a1 |
G |
T |
10: 34,266,663 (GRCm39) |
V16F |
unknown |
Het |
Col3a1 |
G |
A |
1: 45,360,734 (GRCm39) |
V55I |
unknown |
Het |
Ctns |
T |
C |
11: 73,082,572 (GRCm39) |
T53A |
probably benign |
Het |
Cyp2b23 |
A |
T |
7: 26,365,431 (GRCm39) |
I468N |
probably damaging |
Het |
Dcbld2 |
G |
A |
16: 58,283,460 (GRCm39) |
W565* |
probably null |
Het |
Esco2 |
A |
T |
14: 66,070,130 (GRCm39) |
N16K |
probably benign |
Het |
Fggy |
A |
G |
4: 95,732,394 (GRCm39) |
N462D |
possibly damaging |
Het |
Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
Gm4846 |
T |
C |
1: 166,322,241 (GRCm39) |
T109A |
probably benign |
Het |
H2-M11 |
G |
T |
17: 36,859,026 (GRCm39) |
V189L |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,532,256 (GRCm39) |
T3175S |
possibly damaging |
Het |
Hook2 |
G |
A |
8: 85,721,120 (GRCm39) |
V184M |
probably benign |
Het |
Hspa4l |
A |
T |
3: 40,741,178 (GRCm39) |
D730V |
probably damaging |
Het |
Igkv4-68 |
C |
T |
6: 69,282,113 (GRCm39) |
M19I |
probably benign |
Het |
Igsf9b |
C |
A |
9: 27,228,660 (GRCm39) |
T140N |
possibly damaging |
Het |
Kcnj1 |
G |
A |
9: 32,308,593 (GRCm39) |
R339Q |
probably damaging |
Het |
Lcn8 |
T |
G |
2: 25,545,184 (GRCm39) |
L118W |
probably damaging |
Het |
Lin28a |
A |
G |
4: 133,745,453 (GRCm39) |
F47L |
possibly damaging |
Het |
Loxl4 |
T |
C |
19: 42,596,021 (GRCm39) |
E144G |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mrgprb1 |
C |
A |
7: 48,097,895 (GRCm39) |
E6* |
probably null |
Het |
Mthfsd |
A |
C |
8: 121,825,555 (GRCm39) |
Y339D |
probably damaging |
Het |
Mup11 |
A |
T |
4: 60,615,777 (GRCm39) |
F153L |
probably damaging |
Het |
Pcdhac2 |
G |
A |
18: 37,278,717 (GRCm39) |
V566M |
probably benign |
Het |
Plpp7 |
G |
T |
2: 31,986,121 (GRCm39) |
A100S |
probably benign |
Het |
Ptprd |
A |
G |
4: 76,004,273 (GRCm39) |
F161L |
probably benign |
Het |
Pwp2 |
G |
A |
10: 78,007,930 (GRCm39) |
A875V |
possibly damaging |
Het |
Rhd |
A |
G |
4: 134,611,460 (GRCm39) |
T207A |
possibly damaging |
Het |
Sh2d3c |
C |
T |
2: 32,643,150 (GRCm39) |
R778C |
probably damaging |
Het |
Slc34a3 |
A |
C |
2: 25,119,289 (GRCm39) |
V527G |
probably benign |
Het |
Smad2 |
T |
C |
18: 76,420,022 (GRCm39) |
|
probably null |
Het |
Sp110 |
GTACT |
GTACTACT |
1: 85,515,207 (GRCm39) |
|
probably benign |
Het |
Spata21 |
C |
T |
4: 140,839,317 (GRCm39) |
Q611* |
probably null |
Het |
Taf4b |
A |
G |
18: 14,954,585 (GRCm39) |
T554A |
probably benign |
Het |
Tial1 |
T |
C |
7: 128,044,194 (GRCm39) |
T107A |
unknown |
Het |
Ubxn6 |
C |
A |
17: 56,380,195 (GRCm39) |
R42L |
probably benign |
Het |
Vmn2r90 |
A |
T |
17: 17,947,142 (GRCm39) |
N473I |
probably damaging |
Het |
Ythdc1 |
T |
A |
5: 86,969,133 (GRCm39) |
Y351* |
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 |
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 |
|
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'- GAGTTGTGGGTTCAGGCTCC -3'
(R):5'- TGAGTTCAAGCTCACCCCAC -3'
Sequencing Primer
(F):5'- CAGGCTCCTTGGGGGTG -3'
(R):5'- TGACCCTCCTACTACTCCACACAG -3'
|
Posted On |
2020-01-23 |