Mutagenetix > Incidental Mutations

Incidental Mutation 'R8896:Hapln3'

678028

Institutional Source

Beutler Lab

Gene Symbol

Hapln3

Ensembl Gene

ENSMUSG00000030606

Gene Name

hyaluronan and proteoglycan link protein 3

Synonyms

Lpr3, 4930554N11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79115102-79131018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79117491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 267 (R267W)

Ref Sequence

ENSEMBL: ENSMUSP00000146090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032827] [ENSMUST00000032835] [ENSMUST00000205782] [ENSMUST00000206092]

AlphaFold

Q80WM5

Predicted Effect

probably benign
Transcript: ENSMUST00000032827

SMART Domains

Protein: ENSMUSP00000032827
Gene: ENSMUSG00000030606

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IGv	65	148	3.28e-8	SMART
LINK	164	261	1.78e-46	SMART
LINK	265	357	3.14e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000032835

SMART Domains

Protein: ENSMUSP00000032835
Gene: ENSMUSG00000030607

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	46	135	3.46e-7	SMART
LINK	151	248	1.76e-59	SMART
LINK	252	350	4.13e-65	SMART
LINK	485	582	1.03e-51	SMART
LINK	586	684	9.58e-61	SMART
low complexity region	767	794	N/A	INTRINSIC
low complexity region	845	859	N/A	INTRINSIC
low complexity region	890	904	N/A	INTRINSIC
low complexity region	913	930	N/A	INTRINSIC
low complexity region	966	987	N/A	INTRINSIC
low complexity region	1455	1468	N/A	INTRINSIC
low complexity region	1484	1495	N/A	INTRINSIC
low complexity region	1707	1720	N/A	INTRINSIC
low complexity region	1808	1823	N/A	INTRINSIC
low complexity region	1904	1915	N/A	INTRINSIC
CLECT	1922	2043	2.13e-37	SMART
CCP	2049	2105	9.32e-11	SMART
low complexity region	2118	2130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205782

Predicted Effect

probably benign
Transcript: ENSMUST00000206092
AA Change: R267W

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000206779

Meta Mutation Damage Score

0.5152

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	T	G	1: 58,252,074	S784A	probably benign	Het
Ap3d1	T	A	10: 80,716,591	H581L	probably benign	Het
Atp11a	T	C	8: 12,849,781	Y915H	probably damaging	Het
Atp4b	T	C	8: 13,387,514	D213G	probably benign	Het
Bcl11a	A	G	11: 24,163,640	S328G	probably benign	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cadps2	T	A	6: 23,410,877	Y685F	probably damaging	Het
Ccdc88b	C	T	19: 6,853,835	A580T	probably benign	Het
Cdc42bpa	GACAACA	GACA	1: 180,130,808		probably benign	Het
Cep152	A	T	2: 125,566,235	V1396D	possibly damaging	Het
Ces1c	T	C	8: 93,106,626	I404V	probably benign	Het
Cr2	A	T	1: 195,169,273	M137K	possibly damaging	Het
Cyp2d40	T	C	15: 82,760,253	Y257C	unknown	Het
Dennd1c	T	A	17: 57,074,512	D116V	probably damaging	Het
Dph2	G	A	4: 117,890,378	R270*	probably null	Het
Dpp8	A	C	9: 65,078,036	H792P	possibly damaging	Het
Dupd1	T	C	14: 21,686,695	D113G	probably benign	Het
Efs	T	C	14: 54,920,299	E185G	possibly damaging	Het
Eml3	A	G	19: 8,936,692	E480G	probably damaging	Het
Fam193a	A	G	5: 34,426,484	T336A	probably benign	Het
Fermt1	C	T	2: 132,941,932		probably benign	Het
Galnt4	T	A	10: 99,110,093	V560D	probably damaging	Het
Gbp2b	C	A	3: 142,603,566	T146K	probably damaging	Het
Gbp5	C	T	3: 142,505,547	T346I	probably damaging	Het
Glrx	G	T	13: 75,847,198	C79F	probably damaging	Het
Glt8d2	T	A	10: 82,654,782	T225S	probably damaging	Het
Grm3	A	G	5: 9,512,483	F456L	possibly damaging	Het
Gse1	T	G	8: 120,576,446	S1109A	unknown	Het
Gstp3	A	T	19: 4,058,573	L63Q	probably damaging	Het
Herc4	T	A	10: 63,311,507	I801N	possibly damaging	Het
Ido1	G	T	8: 24,587,864	D153E	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnj9	T	A	1: 172,325,793	S255C	probably damaging	Het
Kpna3	T	C	14: 61,391,845	N39D	probably benign	Het
Krt39	A	T	11: 99,518,269	S269T	probably damaging	Het
Lfng	G	A	5: 140,613,223	V296I	probably benign	Het
Lrit3	T	A	3: 129,791,483	I209F	probably damaging	Het
Map4k5	T	A	12: 69,823,501	D523V	possibly damaging	Het
Mdn1	C	T	4: 32,678,328	P652L	probably benign	Het
Med30	G	A	15: 52,721,120	V145I	possibly damaging	Het
Megf6	T	A	4: 154,242,403	D163E	probably damaging	Het
Meltf	T	A	16: 31,890,704		probably benign	Het
Mindy4	T	C	6: 55,278,238	L567P	probably benign	Het
Mppe1	T	C	18: 67,237,401	D75G	probably damaging	Het
Muc4	C	T	16: 32,754,673	P1516S	probably benign	Het
Myo3b	C	A	2: 70,238,816	F494L	probably damaging	Het
Nedd4l	A	G	18: 65,165,617	T226A	probably benign	Het
Nod1	A	G	6: 54,944,292	V347A	probably benign	Het
Nup210	A	T	6: 91,042,253		probably null	Het
Nup210l	A	G	3: 90,118,625	R185G	probably damaging	Het
Olfr202	A	T	16: 59,284,089	M136K	probably damaging	Het
Olfr62	A	T	4: 118,666,305	M263L	probably benign	Het
Olfr957	A	G	9: 39,511,474	L82P	probably damaging	Het
Oma1	T	C	4: 103,353,632	L445S	probably damaging	Het
Oxsm	A	T	14: 16,242,677	F31I	probably benign	Het
Pdcd5	A	T	7: 35,647,370	M1K	probably null	Het
Pkd1l2	T	C	8: 117,013,876	T2161A	possibly damaging	Het
Pla2g3	A	T	11: 3,492,151	S404C	probably null	Het
Plec	A	G	15: 76,194,360	V60A	unknown	Het
Prpsap2	A	G	11: 61,752,910	S66P	possibly damaging	Het
Rarb	A	G	14: 16,436,804	L239P	probably damaging	Het
Ryr3	A	T	2: 112,753,050	Y2845*	probably null	Het
Spta1	T	C	1: 174,217,982	C1569R	probably damaging	Het
Stard13	G	A	5: 151,062,650	S465L	probably damaging	Het
Tmub1	A	T	5: 24,446,682	S80T	probably benign	Het
Trpv5	A	G	6: 41,670,913	F322S	probably damaging	Het
Vmn2r5	G	A	3: 64,503,782	A455V	probably benign	Het
Washc4	T	A	10: 83,570,018	N459K	probably damaging	Het
Wdr11	C	T	7: 129,605,713	R300*	probably null	Het
Zer1	A	G	2: 30,103,418	F559L	probably damaging	Het
Zfat	A	T	15: 68,180,670	V425D	probably damaging	Het
Zfp738	G	A	13: 67,669,791	L694F		Het
Zfp839	C	T	12: 110,868,843	A844V	probably damaging	Het

Other mutations in Hapln3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Hapln3	APN	7	79121983	missense	probably damaging	1.00
IGL01412:Hapln3	APN	7	79117436	splice site	probably null
IGL02141:Hapln3	APN	7	79118145	missense	probably damaging	0.99
IGL02675:Hapln3	APN	7	79117848	critical splice donor site	probably null
IGL02864:Hapln3	APN	7	79118064	missense	probably benign	0.03
IGL02894:Hapln3	APN	7	79121773	missense	probably benign	0.03
R1271:Hapln3	UTSW	7	79118016	missense	probably damaging	1.00
R1337:Hapln3	UTSW	7	79118076	missense	probably benign	0.06
R1351:Hapln3	UTSW	7	79121960	missense	probably damaging	1.00
R1686:Hapln3	UTSW	7	79121890	missense	probably benign	0.13
R1718:Hapln3	UTSW	7	79123450	missense	unknown
R3103:Hapln3	UTSW	7	79121736	missense	probably benign	0.07
R5625:Hapln3	UTSW	7	79117258	splice site	probably null
R5669:Hapln3	UTSW	7	79117496	splice site	probably null
R5862:Hapln3	UTSW	7	79121891	missense	possibly damaging	0.84
R5875:Hapln3	UTSW	7	79121973	missense	probably benign	0.03
R7129:Hapln3	UTSW	7	79121824	missense	probably damaging	1.00
R7439:Hapln3	UTSW	7	79117269	missense	probably benign	0.00
R7713:Hapln3	UTSW	7	79117373	missense	probably benign	0.00
R8894:Hapln3	UTSW	7	79117491	missense	probably benign	0.00
R8933:Hapln3	UTSW	7	79117630	unclassified	probably benign
R9114:Hapln3	UTSW	7	79121964	missense	probably benign	0.00
R9367:Hapln3	UTSW	7	79121707	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAGTTGAGTCGAGGGTGAAC -3'
(R):5'- TGCTCACTCAGAATGCAATTGG -3'

Sequencing Primer
(F):5'- ACTATAGGGTAGCGGGCACTTC -3'
(R):5'- TGCAATTGGGGCATACAGAAATGAC -3'

Posted On

2021-08-02