Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Hapln3'

191202

Institutional Source

Beutler Lab

Gene Symbol

Hapln3

Ensembl Gene

ENSMUSG00000030606

Gene Name

hyaluronan and proteoglycan link protein 3

Synonyms

Lpr3, 4930554N11Rik

MMRRC Submission

039751-MU

Accession Numbers

Essential gene?

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

Stock #

R1718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79115102-79131018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79123450 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 15 (V15A)

Ref Sequence

ENSEMBL: ENSMUSP00000146090 (fasta)

Gene Model

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

AlphaFold

Q80WM5

Predicted Effect

unknown
Transcript: ENSMUST00000032827
AA Change: V15A

SMART Domains

Protein: ENSMUSP00000032827
Gene: ENSMUSG00000030606
AA Change: V15A

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

unknown
Transcript: ENSMUST00000205782
AA Change: V15A

Predicted Effect

unknown
Transcript: ENSMUST00000206092
AA Change: V15A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206402

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	T	13: 77,245,370		probably benign	Het
Acot3	T	G	12: 84,053,943		probably null	Het
Acox1	A	T	11: 116,174,682	C523*	probably null	Het
Adamts19	G	A	18: 58,972,825	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,166,519		probably null	Het
Apob	A	G	12: 8,016,087	K4319R	probably benign	Het
AU016765	A	C	17: 64,555,438		noncoding transcript	Het
Bpifb1	T	A	2: 154,213,983		probably null	Het
Btn2a2	A	G	13: 23,481,936	V242A	probably benign	Het
Camta1	A	G	4: 151,084,024	S1281P	probably benign	Het
Ccdc116	T	C	16: 17,141,908	K306E	probably benign	Het
Cemip	A	G	7: 83,935,658	V1350A	probably benign	Het
Clip2	A	T	5: 134,502,929	L674*	probably null	Het
Cyp2d12	T	A	15: 82,558,050	D244E	probably benign	Het
Cyp4x1	A	G	4: 115,111,670	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,168,079	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,990,983	Y318C	probably damaging	Het
Fras1	A	T	5: 96,554,889		probably null	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm28042	T	A	2: 120,036,391	S172T	possibly damaging	Het
Gm7808	T	A	9: 19,928,003		probably benign	Het
Gm8909	A	G	17: 36,161,784		probably benign	Het
Gpr61	C	T	3: 108,150,380	V322M	possibly damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klk1b4	A	G	7: 44,209,672	Y38C	probably damaging	Het
Lrrfip1	A	G	1: 91,115,555	K561E	probably damaging	Het
Map3k1	A	G	13: 111,755,419	C1101R	probably benign	Het
Mcoln2	A	G	3: 146,190,474		probably benign	Het
Mfsd2b	G	A	12: 4,869,037	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,975,203	V19I	probably benign	Het
Mgme1	T	A	2: 144,272,318	D113E	probably benign	Het
Mki67	A	G	7: 135,695,494	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,831,644	I125V	probably benign	Het
Mrps9	G	A	1: 42,903,399	R339H	probably damaging	Het
Ndst1	T	C	18: 60,707,803	D269G	probably damaging	Het
Nedd9	T	C	13: 41,338,926	N30S	probably damaging	Het
Notch4	G	A	17: 34,576,763		probably benign	Het
Olfr1095	A	T	2: 86,851,187	N170K	probably benign	Het
Olfr250	A	G	9: 38,367,594	D6G	probably benign	Het
Olfr877	G	A	9: 37,855,453	V212I	probably benign	Het
Olfr995	T	C	2: 85,438,805	M118V	probably benign	Het
Papss1	C	A	3: 131,619,185	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,871,523		probably benign	Het
Rab11fip2	A	G	19: 59,935,649	F266L	probably damaging	Het
Ralgapb	T	A	2: 158,443,280	Y554*	probably null	Het
Rem2	T	C	14: 54,479,150	V240A	probably damaging	Het
Retsat	T	C	6: 72,602,671	V143A	probably benign	Het
Rnf141	G	T	7: 110,821,273	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,942,017	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,204,339	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,468,998		probably benign	Het
Smchd1	A	T	17: 71,448,833	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,594,385	H66Y	probably benign	Het
Speg	G	A	1: 75,417,863	E1739K	probably benign	Het
Speg	A	G	1: 75,421,744	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 124,898,357	V67A	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 85,071,738	E997D	probably benign	Het
Tti1	A	T	2: 158,008,224	V365E	probably benign	Het
Tulp4	A	G	17: 6,222,440	I590V	probably benign	Het
Vmn2r61	A	G	7: 42,300,697	D847G	probably benign	Het
Zfp184	A	G	13: 21,959,272	T383A	possibly damaging	Het
Zik1	T	A	7: 10,492,341	E33V	probably damaging	Het
Zik1	C	A	7: 10,492,342	E33*	probably null	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
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
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
R9723:Hapln3	UTSW	7	79121988	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AAGATCCTGCTGTCTCCATCCCAG -3'
(R):5'- TGTTGCTAAGCATGAGACTCGCC -3'

Sequencing Primer
(F):5'- GCCCAGAACTTGCATATCACAG -3'
(R):5'- gtgtgtgtgtgtgtgAAGG -3'

Posted On

2014-05-14