Mutagenetix > Incidental Mutations

Incidental Mutation 'R5875:Hapln3'

455470

Institutional Source

Beutler Lab

Gene Symbol

Hapln3

Ensembl Gene

ENSMUSG00000030606

Gene Name

hyaluronan and proteoglycan link protein 3

Synonyms

Lpr3, 4930554N11Rik

MMRRC Submission

044082-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5875 (G1)

Quality Score

161

Status

Not validated

Chromosome

Chromosomal Location

79115102-79131018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79121973 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 56 (E56G)

Ref Sequence

ENSEMBL: ENSMUSP00000032827 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000032827
AA Change: E56G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032827
Gene: ENSMUSG00000030606
AA Change: E56G

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: ENSMUST00000205782
AA Change: E56G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000206092
AA Change: E56G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206402

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.9%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	A	G	2: 127,186,817	V154A	possibly damaging	Het
2900055J20Rik	T	A	18: 40,257,394		probably benign	Het
4931417E11Rik	T	C	6: 73,469,045	I174V	possibly damaging	Het
4933417A18Rik	T	G	13: 34,932,446	C59W	probably damaging	Het
Abcc1	A	G	16: 14,467,037	E1250G	possibly damaging	Het
Ajap1	A	C	4: 153,432,341	I181R	probably damaging	Het
Akap9	A	G	5: 4,077,285	Y3711C	probably benign	Het
Arl1	T	C	10: 88,741,979	S137P	probably benign	Het
Atp6v0a2	G	A	5: 124,716,327	V583I	probably benign	Het
Cdca7	T	A	2: 72,483,557	M230K	probably benign	Het
Chd9	A	T	8: 91,051,836	D2841V	probably damaging	Het
Chp1	T	A	2: 119,571,815	F90Y	probably damaging	Het
Ckap5	A	G	2: 91,560,861	T345A	probably benign	Het
Clca4b	A	C	3: 144,922,889	S352R	probably benign	Het
Cmya5	A	G	13: 93,095,184	V1132A	probably benign	Het
Crb2	T	A	2: 37,787,254		probably null	Het
Crhbp	A	G	13: 95,443,796	F99L	probably benign	Het
Dnmt3l	A	T	10: 78,053,938	M210L	probably benign	Het
Dyrk2	T	A	10: 118,860,697	R219W	probably damaging	Het
Exosc1	A	G	19: 41,928,103	I78T	probably damaging	Het
Exosc9	T	C	3: 36,561,193		probably null	Het
Frmd5	A	G	2: 121,558,478		probably benign	Het
Gata2	T	C	6: 88,202,491	L315P	probably damaging	Het
Gm17067	G	A	7: 42,708,046	T344I	probably benign	Het
Gm4884	A	T	7: 41,042,936	T110S	possibly damaging	Het
Helq	A	C	5: 100,796,470	I258S	probably damaging	Het
Hoxd10	T	C	2: 74,692,082	Y35H	possibly damaging	Het
Inpp5b	T	C	4: 124,780,406	V302A	possibly damaging	Het
Inpp5d	T	A	1: 87,717,974	I1027N	possibly damaging	Het
Ints2	T	C	11: 86,238,312	S482G	probably benign	Het
Itih1	C	T	14: 30,929,530	V902I	probably benign	Het
Kif27	T	C	13: 58,311,104	N971S	probably benign	Het
Klra17	T	C	6: 129,874,828	D27G	probably benign	Het
Leo1	G	C	9: 75,450,560	R412S	probably damaging	Het
Lonrf2	T	C	1: 38,807,047	N348S	probably benign	Het
Lpp	G	A	16: 24,608,309	G62E	probably benign	Het
Lyn	G	A	4: 3,745,631		probably null	Het
Macf1	T	A	4: 123,432,314	N5128I	possibly damaging	Het
Mapk7	T	A	11: 61,493,698	I61L	probably benign	Het
Mindy1	T	C	3: 95,294,814	V334A	probably damaging	Het
Muc20	G	A	16: 32,793,819	T396I	possibly damaging	Het
Myo5b	A	T	18: 74,707,902		probably null	Het
Noc4l	A	C	5: 110,651,310		probably null	Het
Oas1c	A	G	5: 120,805,562	Y171H	probably damaging	Het
Pclo	A	T	5: 14,680,600		probably benign	Het
Pmpcb	G	A	5: 21,742,946	E216K	probably benign	Het
Pskh1	G	A	8: 105,913,099	R137Q	possibly damaging	Het
Ptprb	T	G	10: 116,348,166	W1628G	probably benign	Het
Ranbp3	T	A	17: 56,707,955		probably null	Het
Rnf165	T	C	18: 77,563,181		probably benign	Het
Sart1	T	C	19: 5,383,795	D338G	probably damaging	Het
Scn8a	T	A	15: 100,972,822	Y251*	probably null	Het
Sdk2	G	T	11: 113,830,059	T1348K	probably benign	Het
Sec16a	A	G	2: 26,433,367	Y1272H	probably damaging	Het
Slc26a1	A	T	5: 108,672,037	L432Q	probably damaging	Het
Susd1	A	T	4: 59,412,203	F117I	possibly damaging	Het
Taf5	A	T	19: 47,076,110	Y465F	probably damaging	Het
Tcstv1	T	A	13: 119,894,094	M1L	probably benign	Het
Tectb	A	G	19: 55,189,626	D193G	possibly damaging	Het
Tirap	G	A	9: 35,189,169	P73L	probably damaging	Het
Tm6sf2	A	G	8: 70,075,389	D86G	possibly damaging	Het
Tmem161b	A	T	13: 84,294,858	H481L	probably damaging	Het
Tnrc6c	G	A	11: 117,759,708	V1763I	probably damaging	Het
Ubxn1	T	C	19: 8,872,220	S75P	probably benign	Het
Uhrf2	A	G	19: 30,089,302	K709E	probably damaging	Het
Vmn2r101	T	A	17: 19,588,830	Y74N	probably damaging	Het
Xirp2	A	G	2: 67,505,080	E81G	probably benign	Het
Zbtb45	A	G	7: 13,008,310	V7A	possibly damaging	Het
Zfp668	C	A	7: 127,866,302	R570L	possibly damaging	Het
Zmiz1	T	A	14: 25,635,966	M125K	possibly damaging	Het
Zmiz2	T	C	11: 6,405,072	L913P	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	intron	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	unclassified	probably null
R5669:Hapln3	UTSW	7	79117496	splice site	probably null
R5862:Hapln3	UTSW	7	79121891	missense	possibly damaging	0.84
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

Predicted Primers

PCR Primer
(F):5'- ATCTTCCAGGCCATCGATGAC -3'
(R):5'- GCAGGCACTTGTAGGAATGG -3'

Sequencing Primer
(F):5'- CAGTTGAACTCGCCCTTGGTAG -3'
(R):5'- GGGAAGGATAGCTCTTTTTGCATCC -3'

Posted On

2017-02-10