Mutagenetix > Incidental Mutations

Incidental Mutation 'R3103:Hapln3'

262900

Institutional Source

Beutler Lab

Gene Symbol

Hapln3

Ensembl Gene

ENSMUSG00000030606

Gene Name

hyaluronan and proteoglycan link protein 3

Synonyms

Lpr3, 4930554N11Rik

MMRRC Submission

040577-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3103 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79115102-79131018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79121736 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 135 (D135G)

Ref Sequence

ENSEMBL: ENSMUSP00000145726 (fasta)

Gene Model

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

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: ENSMUST00000205782
AA Change: D135G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000206092
AA Change: D135G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206402

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	A	G	7: 28,610,984		probably null	Het
Adap2	G	T	11: 80,157,033	C105F	probably damaging	Het
Bace2	T	C	16: 97,422,001		probably null	Het
Bpifc	A	G	10: 85,993,422	S94P	probably damaging	Het
C2cd3	A	G	7: 100,395,252	D347G	possibly damaging	Het
Cad	T	C	5: 31,061,674	V613A	possibly damaging	Het
Ccdc47	T	C	11: 106,202,841	H6R	probably benign	Het
Celsr3	A	G	9: 108,837,139	T1956A	probably benign	Het
Cep128	T	A	12: 91,019,344	D1006V	probably damaging	Het
Cog3	T	C	14: 75,747,201		probably null	Het
Csmd1	C	T	8: 15,917,405	V3153M	probably damaging	Het
Ctnna2	T	C	6: 77,653,144	E122G	possibly damaging	Het
Cts8	T	A	13: 61,250,958	I245F	probably damaging	Het
Ddx27	T	A	2: 167,026,246	V333E	probably damaging	Het
Dmpk	A	G	7: 19,087,654	Y279C	probably damaging	Het
Dpagt1	A	G	9: 44,327,995	I111V	probably benign	Het
Dvl2	C	A	11: 70,008,869	P546T	possibly damaging	Het
Fat4	G	T	3: 38,891,940	A1661S	probably benign	Het
Gcm1	A	G	9: 78,064,452	N225S	probably damaging	Het
Gcnt2	A	T	13: 40,918,606	M242L	probably benign	Het
Golgb1	A	G	16: 36,894,849	R226G	probably damaging	Het
Gpr63	G	A	4: 25,007,353	V26I	probably benign	Het
Grik2	A	G	10: 49,240,772	L631P	probably damaging	Het
Il31ra	C	A	13: 112,530,351	V398F	probably damaging	Het
Ipp	G	T	4: 116,524,249	R315L	possibly damaging	Het
Kcmf1	A	G	6: 72,861,847	L32P	probably damaging	Het
Klf17	T	A	4: 117,760,608	Q184L	possibly damaging	Het
Lrp2	C	T	2: 69,431,984	V4442I	probably benign	Het
Lrrfip2	A	T	9: 111,222,210	E293D	probably damaging	Het
Oit3	A	G	10: 59,438,891	I29T	probably damaging	Het
Olfr403	G	A	11: 74,196,075	D191N	probably benign	Het
Olfr50	T	C	2: 36,793,562	C109R	possibly damaging	Het
Olfr555	T	C	7: 102,659,481	V220A	probably benign	Het
Plb1	T	A	5: 32,328,029	M842K	possibly damaging	Het
Ppt1	T	C	4: 122,836,307	C18R	probably benign	Het
Pstpip2	T	C	18: 77,871,777	Y191H	probably damaging	Het
Ryr1	C	T	7: 29,074,948	V2361I	probably damaging	Het
Serpinb11	A	G	1: 107,377,608	N238S	probably benign	Het
Skor2	A	T	18: 76,859,278	K232*	probably null	Het
Slc13a5	A	T	11: 72,257,388	W231R	probably damaging	Het
Svs5	A	T	2: 164,333,393	E55V	probably benign	Het
Tfcp2	A	T	15: 100,525,600	W142R	probably damaging	Het
Trpc2	A	T	7: 102,095,234	I738F	possibly damaging	Het
Vmn2r61	T	A	7: 42,266,643	S227T	possibly damaging	Het
Zfhx4	A	G	3: 5,399,326	T1540A	probably damaging	Het
Zfp616	A	G	11: 74,071,735	T74A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGGAACCAGCTCCCATTTC -3'
(R):5'- ATCCCCAAGACATGTGCGTG -3'

Sequencing Primer
(F):5'- GGAAGTTGCTCCCTGAGTTCAAAC -3'
(R):5'- CCCCAAGACATGTGCGTGTTAAG -3'

Posted On

2015-02-05