Mutagenetix > Incidental Mutation

Incidental Mutation 'R5625:Hapln3'

441798

Institutional Source

Beutler Lab

Gene Symbol

Hapln3

Ensembl Gene

ENSMUSG00000030606

Gene Name

hyaluronan and proteoglycan link protein 3

Synonyms

Lpr3, 4930554N11Rik

MMRRC Submission

043164-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5625 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

79115102-79131018 bp(-) (GRCm38)

Type of Mutation

splice site (2631 bp from exon)

DNA Base Change (assembly)

G to T at 79117258 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 null
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 damaging
Transcript: ENSMUST00000206092
AA Change: F344L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206402

Predicted Effect

probably null
Transcript: ENSMUST00000206779

Meta Mutation Damage Score

0.7081

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (61/61)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	G	9: 44,278,036	D388A	probably benign	Het
Ampd3	A	C	7: 110,802,523	E408A	probably damaging	Het
BC027072	T	A	17: 71,751,326	D452V	probably damaging	Het
Bmp1	G	T	14: 70,486,166	N743K	probably benign	Het
Brsk1	A	G	7: 4,706,400	K398E	probably damaging	Het
Ccdc157	A	T	11: 4,151,888	M11K	probably damaging	Het
Cep295	A	C	9: 15,340,891	M394R	probably damaging	Het
Cfap44	G	T	16: 44,460,347		probably null	Het
Col13a1	C	T	10: 61,843,609	G713R	unknown	Het
Cxcr2	A	T	1: 74,158,832	K162*	probably null	Het
Cyp3a44	C	T	5: 145,779,566	D405N	possibly damaging	Het
Exo1	G	T	1: 175,893,814	D340Y	possibly damaging	Het
Farp2	T	G	1: 93,528,748	L51R	probably damaging	Het
Fat4	A	T	3: 38,888,934	I659F	possibly damaging	Het
Gbp2b	T	A	3: 142,599,045	W81R	probably damaging	Het
Gipc2	C	T	3: 152,165,904		probably benign	Het
Gm10941	G	T	10: 77,258,836		probably benign	Het
Gm1988	A	T	7: 39,173,805		noncoding transcript	Het
Ifi213	A	G	1: 173,569,063	S482P	possibly damaging	Het
Insc	A	G	7: 114,829,067	T92A	probably damaging	Het
Lrrn1	T	A	6: 107,567,354	C38S	probably damaging	Het
Mycbpap	T	C	11: 94,505,693	E107G	probably damaging	Het
Neb	A	T	2: 52,177,535	L5848*	probably null	Het
Nrg3	A	T	14: 38,370,993	M545K	probably damaging	Het
Nudt3	A	G	17: 27,583,228	L28P	probably damaging	Het
Olfr955	T	A	9: 39,469,803	M308L	probably benign	Het
Otop1	A	T	5: 38,302,761	Y557F	probably damaging	Het
Pdgfra	G	A	5: 75,189,337		probably null	Het
Pi4kb	A	G	3: 94,984,677	M223V	probably benign	Het
Piezo1	T	C	8: 122,482,960	T2335A	probably benign	Het
Ppp6c	A	G	2: 39,197,441	V251A	probably benign	Het
Prkg1	C	T	19: 31,764,762	E21K	possibly damaging	Het
Ptpru	T	C	4: 131,803,380	E521G	probably null	Het
Rasl10b	G	T	11: 83,418,814	R199L	probably damaging	Het
Rhbdf2	G	A	11: 116,605,377	R111C	probably damaging	Het
Sec23ip	G	T	7: 128,744,983		probably benign	Het
Sptbn5	A	T	2: 120,079,792		noncoding transcript	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Syne2	T	C	12: 76,095,112	S6141P	probably benign	Het
Szt2	A	G	4: 118,373,217	V2653A	unknown	Het
Tex46	T	C	4: 136,610,614	F39S	probably damaging	Het
Tmem50a	AACCA	AA	4: 134,898,467		probably benign	Het
Tmem62	G	T	2: 120,990,393	W180L	probably damaging	Het
Tnxb	G	A	17: 34,685,211	A1232T	probably benign	Het
Tubgcp3	T	C	8: 12,624,888	H744R	possibly damaging	Het
Uggt2	A	G	14: 119,077,724	I311T	probably damaging	Het
Usp8	C	T	2: 126,742,277	R469C	probably damaging	Het
Vmn1r19	T	C	6: 57,405,296	L278S	probably damaging	Het
Vmn2r59	A	T	7: 42,046,460	I176N	probably benign	Het
Vmn2r-ps159	A	T	4: 156,334,210		noncoding transcript	Het
Wdr93	A	G	7: 79,771,018	T376A	probably benign	Het
Zfp575	G	A	7: 24,585,652	A188V	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
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

Predicted Primers

PCR Primer
(F):5'- TAAGCCAATGGACCCCAAGTG -3'
(R):5'- ATGGTGCACAGATCTCCACG -3'

Sequencing Primer
(F):5'- TGCCCCAGAGAAGGATGC -3'
(R):5'- ACAGATCTCCACGGTGGG -3'

Posted On

2016-11-08