Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00493:Prg4'

332225

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prg4

Ensembl Gene

ENSMUSG00000006014

Gene Name

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

Synonyms

MSF, SZP, lubricin, DOL54

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

IGL00493

Quality Score

Status

Chromosome

Chromosomal Location

150325163-150341916 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150327671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 850 (I850L)

Ref Sequence

ENSEMBL: ENSMUSP00000107533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006171] [ENSMUST00000111901] [ENSMUST00000111902] [ENSMUST00000119161] [ENSMUST00000124484] [ENSMUST00000124973] [ENSMUST00000164600] [ENSMUST00000161611] [ENSMUST00000162367] [ENSMUST00000161320]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000006171
AA Change: I261L

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000006171
Gene: ENSMUSG00000006014
AA Change: I261L

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: I803L

SMART Domains

Protein: ENSMUSP00000107532
Gene: ENSMUSG00000006014
AA Change: I803L

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 damaging
Transcript: ENSMUST00000111902
AA Change: I850L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107533
Gene: ENSMUSG00000006014
AA Change: I850L

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: ENSMUST00000119161

SMART Domains

Protein: ENSMUSP00000112606
Gene: ENSMUSG00000006005

Domain	Start	End	E-Value	Type
coiled coil region	49	370	N/A	INTRINSIC
coiled coil region	423	515	N/A	INTRINSIC
low complexity region	518	534	N/A	INTRINSIC
coiled coil region	539	604	N/A	INTRINSIC
low complexity region	690	703	N/A	INTRINSIC
low complexity region	782	795	N/A	INTRINSIC
low complexity region	811	826	N/A	INTRINSIC
low complexity region	1003	1019	N/A	INTRINSIC
Pfam:TPR_MLP1_2	1036	1167	9.1e-33	PFAM
coiled coil region	1215	1421	N/A	INTRINSIC
coiled coil region	1473	1629	N/A	INTRINSIC
internal_repeat_3	1630	1691	1.48e-5	PROSPERO
low complexity region	1695	1717	N/A	INTRINSIC
low complexity region	1761	1777	N/A	INTRINSIC
internal_repeat_5	1814	1827	5.58e-5	PROSPERO
internal_repeat_3	1819	1881	1.48e-5	PROSPERO
internal_repeat_4	1875	1895	5.58e-5	PROSPERO
internal_repeat_1	1893	1919	2.03e-6	PROSPERO
low complexity region	1920	1933	N/A	INTRINSIC
low complexity region	1942	1981	N/A	INTRINSIC
low complexity region	1989	2014	N/A	INTRINSIC
internal_repeat_4	2017	2036	5.58e-5	PROSPERO
low complexity region	2059	2078	N/A	INTRINSIC
internal_repeat_2	2084	2135	3.95e-6	PROSPERO
internal_repeat_5	2127	2140	5.58e-5	PROSPERO
internal_repeat_1	2154	2179	2.03e-6	PROSPERO
internal_repeat_2	2156	2212	3.95e-6	PROSPERO
low complexity region	2239	2251	N/A	INTRINSIC
low complexity region	2263	2277	N/A	INTRINSIC
low complexity region	2292	2314	N/A	INTRINSIC
low complexity region	2346	2357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124484

SMART Domains

Protein: ENSMUSP00000121991
Gene: ENSMUSG00000006005

Domain	Start	End	E-Value	Type
low complexity region	26	38	N/A	INTRINSIC
low complexity region	50	64	N/A	INTRINSIC
low complexity region	79	101	N/A	INTRINSIC
low complexity region	133	144	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124973

SMART Domains

Protein: ENSMUSP00000117616
Gene: ENSMUSG00000006005

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	24	77	N/A	INTRINSIC
coiled coil region	123	444	N/A	INTRINSIC
coiled coil region	497	589	N/A	INTRINSIC
low complexity region	592	608	N/A	INTRINSIC
coiled coil region	613	678	N/A	INTRINSIC
low complexity region	764	777	N/A	INTRINSIC
low complexity region	856	869	N/A	INTRINSIC
low complexity region	885	900	N/A	INTRINSIC
low complexity region	1077	1093	N/A	INTRINSIC
Pfam:TPR_MLP1_2	1112	1240	5.1e-37	PFAM
coiled coil region	1289	1495	N/A	INTRINSIC
low complexity region	1682	1698	N/A	INTRINSIC
internal_repeat_5	1703	1750	8.04e-5	PROSPERO
internal_repeat_3	1704	1765	1.07e-5	PROSPERO
low complexity region	1769	1791	N/A	INTRINSIC
low complexity region	1835	1851	N/A	INTRINSIC
internal_repeat_5	1857	1900	8.04e-5	PROSPERO
internal_repeat_6	1887	1911	8.04e-5	PROSPERO
internal_repeat_3	1893	1955	1.07e-5	PROSPERO
internal_repeat_4	1949	1969	4.1e-5	PROSPERO
internal_repeat_1	1967	1993	1.42e-6	PROSPERO
low complexity region	1994	2007	N/A	INTRINSIC
low complexity region	2016	2055	N/A	INTRINSIC
low complexity region	2063	2088	N/A	INTRINSIC
internal_repeat_4	2091	2110	4.1e-5	PROSPERO
internal_repeat_6	2108	2132	8.04e-5	PROSPERO
low complexity region	2133	2152	N/A	INTRINSIC
internal_repeat_2	2158	2209	2.78e-6	PROSPERO
internal_repeat_1	2228	2253	1.42e-6	PROSPERO
internal_repeat_2	2230	2286	2.78e-6	PROSPERO
low complexity region	2313	2325	N/A	INTRINSIC
low complexity region	2337	2351	N/A	INTRINSIC
low complexity region	2366	2388	N/A	INTRINSIC
low complexity region	2420	2431	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128417

Predicted Effect

unknown
Transcript: ENSMUST00000164600
AA Change: I1059L

SMART Domains

Protein: ENSMUSP00000128943
Gene: ENSMUSG00000006014
AA Change: I1059L

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

Predicted Effect

unknown
Transcript: ENSMUST00000161611
AA Change: I1059L

SMART Domains

Protein: ENSMUSP00000125677
Gene: ENSMUSG00000006014
AA Change: I1059L

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 damaging
Transcript: ENSMUST00000162367
AA Change: I261L

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125551
Gene: ENSMUSG00000006014
AA Change: I261L

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

noncoding transcript
Transcript: ENSMUST00000130779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138718

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

Coding Region Coverage

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,751,761 (GRCm39)	T509A	probably benign	Het
Arhgap23	T	C	11: 97,337,379 (GRCm39)		probably null	Het
Astn1	A	T	1: 158,427,889 (GRCm39)	I687F	possibly damaging	Het
Atg4d	T	C	9: 21,178,217 (GRCm39)	F112L	probably damaging	Het
Bltp3b	A	C	10: 89,615,846 (GRCm39)	D163A	probably damaging	Het
Cd200	T	A	16: 45,217,409 (GRCm39)	D94V	probably damaging	Het
Cfap46	T	C	7: 139,194,359 (GRCm39)	K2285R	probably benign	Het
Clhc1	T	A	11: 29,521,745 (GRCm39)	I426N	probably damaging	Het
Cnnm2	T	A	19: 46,751,659 (GRCm39)	V483E	probably damaging	Het
Dennd2b	G	A	7: 109,126,915 (GRCm39)	A932V	possibly damaging	Het
Dlc1	A	T	8: 37,037,436 (GRCm39)		probably benign	Het
Fpgs	T	C	2: 32,578,009 (GRCm39)	I138V	possibly damaging	Het
Gpr152	T	C	19: 4,193,506 (GRCm39)	V349A	probably benign	Het
Hk1	C	A	10: 62,122,127 (GRCm39)	E523*	probably null	Het
Ift70a1	C	A	2: 75,812,085 (GRCm39)		probably benign	Het
Krt6a	T	G	15: 101,601,229 (GRCm39)	K241N	probably damaging	Het
Mcm3ap	A	G	10: 76,307,011 (GRCm39)	S375G	probably benign	Het
Meikin	C	T	11: 54,289,320 (GRCm39)	P231L	probably damaging	Het
Micall1	G	A	15: 78,999,221 (GRCm39)		probably benign	Het
Mvk	G	A	5: 114,583,502 (GRCm39)	V14I	probably benign	Het
Myo6	C	T	9: 80,199,754 (GRCm39)	S1021L	probably damaging	Het
N4bp2l2	G	A	5: 150,585,401 (GRCm39)	T193M	probably benign	Het
Naip5	G	T	13: 100,367,279 (GRCm39)	D272E	probably damaging	Het
Nptn	T	A	9: 58,550,922 (GRCm39)	N316K	probably damaging	Het
Pde6c	T	C	19: 38,151,324 (GRCm39)		probably benign	Het
Rdm1	T	G	11: 101,526,580 (GRCm39)	C251G	possibly damaging	Het
Relch	A	G	1: 105,624,324 (GRCm39)		probably benign	Het
Rps6kl1	G	A	12: 85,186,157 (GRCm39)	P291L	probably benign	Het
Sel1l	A	G	12: 91,781,387 (GRCm39)		probably benign	Het
Serpinb1b	T	C	13: 33,277,850 (GRCm39)	F361S	probably damaging	Het
Sirpb1a	G	A	3: 15,475,788 (GRCm39)		probably benign	Het
Smpd1	T	G	7: 105,205,848 (GRCm39)	V405G	probably damaging	Het
Spmip11	T	C	15: 98,486,425 (GRCm39)		probably benign	Het
Tead3	T	C	17: 28,551,780 (GRCm39)	T438A	possibly damaging	Het
Treh	A	T	9: 44,595,197 (GRCm39)	D89V	probably damaging	Het
Trim10	A	T	17: 37,188,140 (GRCm39)	H452L	probably benign	Het
Ugt2b1	A	G	5: 87,073,817 (GRCm39)	C181R	probably benign	Het
Xdh	A	T	17: 74,230,101 (GRCm39)	F277I	possibly damaging	Het
Zswim4	T	G	8: 84,938,769 (GRCm39)	T1038P	probably damaging	Het

Other mutations in Prg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-08-05