Mutagenetix > Incidental Mutations

Incidental Mutation 'R6663:Prg4'

526861

Institutional Source

Beutler Lab

Gene Symbol

Prg4

Ensembl Gene

ENSMUSG00000006014

Gene Name

proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein)

Synonyms

DOL54, SZP, lubricin, MSF

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R6663 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

150449412-150466165 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 150455101 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125551 (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

SMART Domains

Protein: ENSMUSP00000107532
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
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

probably benign
Transcript: ENSMUST00000111902

SMART Domains

Protein: ENSMUSP00000107533
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	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: T607I

SMART Domains

Protein: ENSMUSP00000125677
Gene: ENSMUSG00000006014
AA Change: T607I

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: T607I

SMART Domains

Protein: ENSMUSP00000128943
Gene: ENSMUSG00000006014
AA Change: T607I

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: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

100% (32/32)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	G	5: 90,264,064	S1314P	probably damaging	Het
Btbd3	T	A	2: 138,279,083	I59K	probably benign	Het
Clcn2	A	G	16: 20,703,245	*865R	probably null	Het
Col22a1	T	C	15: 71,820,059	Q749R	unknown	Het
Cpsf2	T	C	12: 101,999,593	Y606H	probably damaging	Het
Csn1s1	T	C	5: 87,675,740	V154A	probably benign	Het
Cux1	T	A	5: 136,485,847	E23V	probably damaging	Het
Cyp2j9	C	A	4: 96,579,442	W269L	probably benign	Het
Dbf4	T	C	5: 8,403,184	M273V	probably benign	Het
Dnhd1	A	G	7: 105,685,692		probably null	Het
Fezf1	A	G	6: 23,247,528	S183P	probably damaging	Het
Irx2	A	G	13: 72,629,129	Y23C	probably damaging	Het
Itga1	A	T	13: 114,974,105	N983K	probably benign	Het
Kifc1	A	G	17: 33,881,456		probably benign	Het
Lrrc14b	T	C	13: 74,361,361	N309S	probably damaging	Het
Lyst	A	T	13: 13,664,116		probably null	Het
Map1b	T	C	13: 99,430,022	T2064A	unknown	Het
Mark3	T	A	12: 111,575,083	N11K	probably benign	Het
Med6	T	A	12: 81,581,875	D80V	possibly damaging	Het
Mfhas1	A	G	8: 35,589,118	E249G	probably damaging	Het
Mroh2b	A	G	15: 4,947,935	I1256M	probably benign	Het
Nkx2-9	G	T	12: 56,611,938	R164S	probably benign	Het
Olfr1181	T	A	2: 88,423,350	N225I	probably benign	Het
Phf10	T	C	17: 14,959,512	D33G	probably null	Het
Plekha5	A	G	6: 140,577,290	M719V	probably damaging	Het
Pln	A	G	10: 53,343,696		probably benign	Het
Slc35b3	A	G	13: 38,954,136	L99P	probably damaging	Het
Tbccd1	AT	ATGT	16: 22,834,028		probably null	Het
Ube2j1	C	T	4: 33,045,198	S157L	probably damaging	Het
Zfp462	A	G	4: 55,008,933	T300A	possibly damaging	Het
Zfp668	G	A	7: 127,867,769	R212C	probably damaging	Het
Zufsp	A	G	10: 33,949,435	M17T	possibly damaging	Het

Other mutations in Prg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Prg4	APN	1	150451920	missense	probably damaging	0.99
IGL02033:Prg4	APN	1	150455868	intron	probably benign
IGL02154:Prg4	APN	1	150454862	intron	probably benign
IGL03111:Prg4	APN	1	150451902	missense	probably benign	0.06
IGL03177:Prg4	APN	1	150455603	intron	probably benign
IGL03260:Prg4	APN	1	150455627	intron	probably benign
IGL03281:Prg4	APN	1	150450088	splice site	probably benign
R0046:Prg4	UTSW	1	150456086	missense	possibly damaging	0.53
R0046:Prg4	UTSW	1	150456086	missense	possibly damaging	0.53
R0196:Prg4	UTSW	1	150454492	intron	probably benign
R0233:Prg4	UTSW	1	150453547	splice site	probably benign
R0255:Prg4	UTSW	1	150455807	intron	probably benign
R0616:Prg4	UTSW	1	150460711	missense	probably damaging	1.00
R1016:Prg4	UTSW	1	150454691	intron	probably benign
R1826:Prg4	UTSW	1	150452009	missense	probably benign	0.09
R1862:Prg4	UTSW	1	150460669	missense	probably damaging	0.99
R1863:Prg4	UTSW	1	150460669	missense	probably damaging	0.99
R1922:Prg4	UTSW	1	150449999	nonsense	probably null
R1940:Prg4	UTSW	1	150456023	missense	possibly damaging	0.53
R3765:Prg4	UTSW	1	150451371	missense	probably damaging	0.97
R3855:Prg4	UTSW	1	150452000	missense	probably damaging	1.00
R3894:Prg4	UTSW	1	150454759	intron	probably benign
R3895:Prg4	UTSW	1	150454759	intron	probably benign
R3912:Prg4	UTSW	1	150451868	missense	probably damaging	1.00
R3935:Prg4	UTSW	1	150458157	missense	possibly damaging	0.68
R4050:Prg4	UTSW	1	150454759	intron	probably benign
R4475:Prg4	UTSW	1	150454859	intron	probably benign
R4794:Prg4	UTSW	1	150454546	intron	probably benign
R4910:Prg4	UTSW	1	150455823	intron	probably benign
R4911:Prg4	UTSW	1	150455823	intron	probably benign
R4993:Prg4	UTSW	1	150460681	missense	probably damaging	1.00
R5378:Prg4	UTSW	1	150455226	intron	probably benign
R5381:Prg4	UTSW	1	150454453	intron	probably benign
R5452:Prg4	UTSW	1	150455768	intron	probably benign
R5870:Prg4	UTSW	1	150455549	nonsense	probably null
R5888:Prg4	UTSW	1	150452350	missense	probably damaging	1.00
R5929:Prg4	UTSW	1	150454129	missense	probably benign	0.01
R6058:Prg4	UTSW	1	150451446	missense	probably damaging	0.99
R6059:Prg4	UTSW	1	150449997	missense	possibly damaging	0.67
R6232:Prg4	UTSW	1	150455816	intron	probably benign
R6272:Prg4	UTSW	1	150454766	intron	probably benign
R6459:Prg4	UTSW	1	150454301	intron	probably benign
R6659:Prg4	UTSW	1	150460681	missense	probably damaging	1.00
R6882:Prg4	UTSW	1	150453495	missense	probably damaging	1.00
R6970:Prg4	UTSW	1	150455906	intron	probably benign
R7078:Prg4	UTSW	1	150458263	missense	possibly damaging	0.91
R7102:Prg4	UTSW	1	150452254	missense	probably damaging	1.00
R7264:Prg4	UTSW	1	150454067	missense	not run
R7487:Prg4	UTSW	1	150455905	missense	unknown
R7531:Prg4	UTSW	1	150455035	missense	unknown
R7651:Prg4	UTSW	1	150454945	missense	unknown
R7701:Prg4	UTSW	1	150457542	missense	possibly damaging	0.53
R8072:Prg4	UTSW	1	150456023	missense	possibly damaging	0.53
R8168:Prg4	UTSW	1	150455850	missense	unknown
R8248:Prg4	UTSW	1	150455126	missense	unknown
R8436:Prg4	UTSW	1	150455567	missense	unknown
R8460:Prg4	UTSW	1	150455941	missense	possibly damaging	0.83
R8514:Prg4	UTSW	1	150454645	missense	unknown
R8904:Prg4	UTSW	1	150456059	missense	possibly damaging	0.83
R9072:Prg4	UTSW	1	150455537	missense	unknown
R9073:Prg4	UTSW	1	150455537	missense	unknown
X0024:Prg4	UTSW	1	150454492	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTTGTGGGTTCAGGCTCCT -3'
(R):5'- TCCCAAGGAGCCTGAACC -3'

Sequencing Primer
(F):5'- CTCCTTGGGAGTTGTGGGTTCAG -3'
(R):5'- TCCCAAGGAGCCTGAACC -3'

Posted On

2018-07-23