Mutagenetix > Incidental Mutations

Incidental Mutation 'R5378:Prg4'

425662

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

042953-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R5378 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150449412-150466165 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 150455226 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]

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: E565D

SMART Domains

Protein: ENSMUSP00000125677
Gene: ENSMUSG00000006014
AA Change: E565D

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: E565D

SMART Domains

Protein: ENSMUSP00000128943
Gene: ENSMUSG00000006014
AA Change: E565D

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,578,277	F39L	probably benign	Het
Abca2	T	G	2: 25,446,068	L2150R	probably damaging	Het
Apob	T	A	12: 8,011,865	V3449D	probably damaging	Het
Arfgef2	T	A	2: 166,873,628	V1331D	probably damaging	Het
Bora	A	G	14: 99,068,493	N433D	probably damaging	Het
Cand2	G	A	6: 115,801,951	A1159T	probably benign	Het
Ccser1	C	T	6: 61,311,666	A271V	probably benign	Het
Ccser2	G	A	14: 36,879,434	T331I	possibly damaging	Het
Cemip	A	G	7: 83,958,525	S758P	probably damaging	Het
Cenpf	C	T	1: 189,653,466	V2206I	possibly damaging	Het
Chrnb1	A	T	11: 69,785,181	S412T	probably benign	Het
Cks1b	A	C	3: 89,416,301	W54G	probably damaging	Het
Col5a3	C	T	9: 20,797,576	V630M	unknown	Het
Dnajb14	A	G	3: 137,885,378	D30G	probably benign	Het
Dpp8	T	C	9: 65,078,014	Y785H	probably damaging	Het
Dsel	T	A	1: 111,862,821		probably benign	Het
Dzip1	C	T	14: 118,911,393	M291I	probably damaging	Het
Esp8	G	A	17: 40,530,142	C98Y	unknown	Het
F11	C	A	8: 45,252,143	M120I	probably benign	Het
Fsip2	T	C	2: 82,989,841	F5306S	possibly damaging	Het
Gm4841	T	C	18: 60,271,041		probably null	Het
Gpr180	T	A	14: 118,139,839	L84Q	probably benign	Het
Grwd1	A	T	7: 45,830,081	D123E	probably benign	Het
Hsfy2	T	C	1: 56,636,668	R237G	probably benign	Het
Htr5a	A	G	5: 27,850,995	Y328C	probably damaging	Het
Klrb1f	G	A	6: 129,053,831	A127T	probably damaging	Het
Mcpt4	A	T	14: 56,062,293		probably null	Het
Muc5b	T	C	7: 141,862,203	V2962A	unknown	Het
Olfr1095	A	T	2: 86,851,463	N78K	probably benign	Het
Olfr601	T	A	7: 103,358,445	I250F	probably damaging	Het
Otog	A	T	7: 46,255,004	T518S	probably damaging	Het
Phgdh	A	T	3: 98,321,323		probably null	Het
Pip5kl1	A	T	2: 32,579,094	T213S	probably benign	Het
Plekhg2	G	A	7: 28,362,669	R594W	probably damaging	Het
Prpf40a	T	A	2: 53,145,876	D621V	probably damaging	Het
Ptprz1	A	T	6: 23,007,402	I1655F	probably damaging	Het
Rbm28	T	C	6: 29,128,559	K55E	probably damaging	Het
Rbm43	A	T	2: 51,925,621	V196E	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Serinc4	T	A	2: 121,452,380	M434L	possibly damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc35f1	A	T	10: 52,691,061	H22L	possibly damaging	Het
Smg6	A	G	11: 75,041,994	D98G	possibly damaging	Het
Strbp	A	G	2: 37,599,174	Y527H	probably damaging	Het
Strbp	A	G	2: 37,600,806	V479A	probably benign	Het
Tcrg-C2	T	C	13: 19,305,127	Y145C	unknown	Het
Tdg	G	T	10: 82,641,471	V119L	probably benign	Het
Trav10d	G	A	14: 52,811,368	R72H	probably benign	Het
Trim25	T	C	11: 89,009,267	L280P	probably damaging	Het
Tsc22d4	A	G	5: 137,762,464	D49G	probably damaging	Het
Ttn	T	C	2: 76,890,190		probably benign	Het
Tyr	T	A	7: 87,472,495	H363L	probably damaging	Het
Ubr5	A	G	15: 37,989,578	S2020P	probably damaging	Het
Usp9y	T	C	Y: 1,315,928	D2069G	probably damaging	Het
Vmn1r170	T	C	7: 23,606,538	W122R	probably benign	Het
Wdr7	G	A	18: 63,825,239		probably null	Het
Ylpm1	T	A	12: 85,030,255	H793Q	probably damaging	Het
Zadh2	G	A	18: 84,094,678	A160T	probably damaging	Het
Zfp266	G	A	9: 20,499,363	T506I	probably damaging	Het
Zfp518a	T	C	19: 40,915,856	S1410P	probably 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
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
R6663:Prg4	UTSW	1	150455101	intron	probably benign
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
X0024:Prg4	UTSW	1	150454492	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GTAGGTTCAGGCTCCTTGAG -3'
(R):5'- CACCACTCTCAAGGAGCCTG -3'

Sequencing Primer
(F):5'- TCAGGCTCCTTGAGAGTGG -3'
(R):5'- TCTCAAGGAGCCTGAACCC -3'

Posted On

2016-08-04