Mutagenetix > Incidental Mutations

Incidental Mutation 'R8894:Hapln3'

677884

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: 0.073) question?

Stock #

R8894 (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

98% (63/64)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,305,099	V291M	probably benign	Het
Abca14	A	C	7: 120,248,145	Y744S	probably damaging	Het
Acly	T	C	11: 100,516,813	E237G	probably benign	Het
Adcy1	T	A	11: 7,137,375	D416E	probably damaging	Het
Arid1b	T	A	17: 5,327,393	M1217K	probably damaging	Het
Atad2b	T	C	12: 5,014,001		probably null	Het
Ccdc177	A	G	12: 80,759,303	S66P	probably damaging	Het
Clpsl2	T	C	17: 28,550,671	C36R	possibly damaging	Het
Cramp1l	C	T	17: 24,983,140	G456D	probably damaging	Het
Crb1	T	A	1: 139,248,012	L744F	possibly damaging	Het
Crybg3	T	A	16: 59,522,189	E980D	probably damaging	Het
Cyp2d11	A	T	15: 82,390,470	V302E	probably benign	Het
Cyp3a25	A	C	5: 145,994,860		probably benign	Het
Dhx35	G	C	2: 158,834,875	A410P	possibly damaging	Het
Dlg2	A	T	7: 91,965,738	H295L	probably benign	Het
Dnah2	T	A	11: 69,492,222	M1172L	probably benign	Het
Dock9	T	C	14: 121,622,961	S850G	probably benign	Het
Dst	A	T	1: 34,174,133	M1369L	possibly damaging	Het
Fam205a1	A	G	4: 42,853,688	C47R	possibly damaging	Het
Fcrl6	T	C	1: 172,599,289	N30S	probably benign	Het
Fibp	A	T	19: 5,463,281	Q208L	probably benign	Het
Foxc1	T	G	13: 31,808,222	S339A	unknown	Het
Fras1	T	C	5: 96,759,543	C3196R	probably damaging	Het
Galnt7	C	T	8: 57,526,142	W649*	probably null	Het
Gm7682	T	G	5: 94,448,540	C479G	probably damaging	Het
H2-M10.2	T	C	17: 36,284,663	N245S	possibly damaging	Het
Hkdc1	T	C	10: 62,408,621	I229V	probably damaging	Het
Kank1	G	A	19: 25,431,014	G1286R	probably damaging	Het
Krba1	A	G	6: 48,411,695	I543V	probably damaging	Het
Lipn	A	T	19: 34,084,848	*401L	probably null	Het
Lrrc37a	T	C	11: 103,456,623	N3082S	unknown	Het
Magi1	A	T	6: 93,686,605	F1117Y	probably benign	Het
Man2a1	A	G	17: 64,713,601	K791E	probably benign	Het
Mindy4	T	C	6: 55,278,238	L567P	probably benign	Het
Mpp4	A	G	1: 59,158,584		probably null	Het
Muc2	T	G	7: 141,694,515	C371W	probably damaging	Het
Nebl	A	T	2: 17,375,225	N779K	probably benign	Het
Nf1	T	C	11: 79,445,793	L1066P	probably damaging	Het
Npat	T	C	9: 53,556,651	L302P	probably damaging	Het
Nudt21	C	A	8: 94,028,870	G146W	probably damaging	Het
Olfr1205	T	G	2: 88,831,465	M116R	probably benign	Het
Olfr122	T	A	17: 37,772,049	I132K	probably damaging	Het
Olfr1510	A	T	14: 52,410,008	L288Q	probably damaging	Het
Olfr891	A	T	9: 38,180,074	F250I	probably damaging	Het
Pkd2l2	T	C	18: 34,438,220		probably benign	Het
Plcd3	T	A	11: 103,071,766	N620Y	probably damaging	Het
Ppl	T	C	16: 5,107,342		probably benign	Het
Prep	T	C	10: 45,158,524	*711Q	probably null	Het
Psap	T	A	10: 60,299,957	V394E	possibly damaging	Het
Ptprr	T	A	10: 116,048,345	D102E	probably benign	Het
Rgsl1	T	A	1: 153,822,373		probably null	Het
Rimbp2	T	A	5: 128,773,390	D943V	possibly damaging	Het
Rsrc2	G	T	5: 123,740,730	R113S	unknown	Het
Sim1	T	A	10: 50,910,530	V286E	possibly damaging	Het
Slc35d1	A	T	4: 103,211,332	F124L		Het
Sort1	T	C	3: 108,338,912	F402L	probably damaging	Het
Tcrg-V4	T	C	13: 19,185,457	S124P	probably damaging	Het
Tlr2	T	A	3: 83,836,784	E664V	probably damaging	Het
Tmppe	A	T	9: 114,401,192		probably benign	Het
Tnfrsf8	T	C	4: 145,274,468	D356G	possibly damaging	Het
Tnrc18	T	C	5: 142,739,457	E1839G	unknown	Het
Trim17	T	A	11: 58,968,710	M250K	probably benign	Het
Trim33	C	T	3: 103,311,491	L315F	probably damaging	Het
Vmn1r43	A	G	6: 89,869,764	S247P	probably benign	Het
Vmn2r33	T	A	7: 7,563,810	Y101F	probably benign	Het
Vmn2r40	T	C	7: 8,920,198	D388G		Het
Wdr36	C	T	18: 32,837,287		probably benign	Het
Zfp2	T	A	11: 50,901,016	I67F	possibly 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
R8896: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'- GCTCACTCAGAATGCAATTGGG -3'

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

Posted On

2021-08-02