Mutagenetix > Incidental Mutations

Incidental Mutation 'R9114:Hapln3'

692414

Institutional Source

Beutler Lab

Gene Symbol

Hapln3

Ensembl Gene

ENSMUSG00000030606

Gene Name

hyaluronan and proteoglycan link protein 3

Synonyms

Lpr3, 4930554N11Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R9114 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79115102-79131018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79121964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 59 (F59S)

Ref Sequence

ENSEMBL: ENSMUSP00000146090 (fasta)

Gene Model

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

AlphaFold

Q80WM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000032827
AA Change: F59S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032827
Gene: ENSMUSG00000030606
AA Change: F59S

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: F59S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000206092
AA Change: F59S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,738,702	L1027*	probably null	Het
Actl11	T	A	9: 107,931,310	M944K	possibly damaging	Het
Afap1l2	T	C	19: 56,917,995	K491E	probably damaging	Het
Ahr	A	T	12: 35,511,165	D150E	probably damaging	Het
Arhgef1	T	A	7: 24,907,879	L17Q	probably damaging	Het
Bysl	A	G	17: 47,604,317	S169P		Het
C4b	A	T	17: 34,729,430	F1610I	probably damaging	Het
Chtf8	C	A	8: 106,885,849	A153S	probably benign	Het
Ciapin1	C	T	8: 94,831,772		probably null	Het
Cnnm1	A	G	19: 43,440,956	E171G	possibly damaging	Het
Crybb3	T	C	5: 113,077,541	N155S	probably benign	Het
Dclk3	T	A	9: 111,488,615	M773K	probably benign	Het
Ddx18	A	T	1: 121,561,538	V260D	probably damaging	Het
Dmxl2	T	A	9: 54,400,037	N2216Y		Het
Epn2	T	C	11: 61,546,620	E42G	probably damaging	Het
Esrrg	C	A	1: 188,146,408	P229T	probably benign	Het
Esrrg	C	A	1: 188,146,409	P229Q	possibly damaging	Het
Ethe1	G	T	7: 24,606,218	R130L	probably benign	Het
Fgl2	G	A	5: 21,375,365	C235Y	probably damaging	Het
Fmnl1	C	T	11: 103,196,501	T890M	unknown	Het
Fsip2	C	G	2: 82,976,957	P1207A	probably benign	Het
Gc	C	T	5: 89,445,306	D85N	possibly damaging	Het
Gfi1	G	A	5: 107,721,504	R287W	probably damaging	Het
Gm3460	T	C	14: 6,619,567		probably null	Het
Il24	G	A	1: 130,885,746	T38I	possibly damaging	Het
Izumo1	A	G	7: 45,627,159	D382G	probably benign	Het
Kdm5a	T	A	6: 120,405,926	Y739*	probably null	Het
Kif2b	T	A	11: 91,575,712	I582F	possibly damaging	Het
Klhdc1	A	G	12: 69,242,009	Y31C	probably damaging	Het
Lama1	G	A	17: 67,821,674	E3009K		Het
Mad2l1bp	G	A	17: 46,148,032	R191C	probably damaging	Het
Mark1	A	C	1: 184,912,064	S468A	probably damaging	Het
Mknk2	T	A	10: 80,668,989	N236Y	probably damaging	Het
Muc2	T	A	7: 141,701,414	C251*	probably null	Het
Nacad	T	C	11: 6,602,252	D313G	probably damaging	Het
Neb	G	T	2: 52,209,587	D4750E	probably benign	Het
Nlrp6	T	C	7: 140,926,419	S758P	probably damaging	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Olfr61	A	C	7: 140,638,369	I223L	probably benign	Het
Olfr66	T	C	7: 103,881,362	T294A	possibly damaging	Het
Olfr918	A	G	9: 38,672,596	F283L	probably benign	Het
Oxtr	A	G	6: 112,489,520	V93A	probably damaging	Het
Pbx3	C	A	2: 34,213,259	D234Y	probably damaging	Het
Pde4b	A	T	4: 102,602,629	T554S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pid1	A	T	1: 84,038,234	Y151N	probably damaging	Het
Plcd4	A	G	1: 74,552,148	E234G	possibly damaging	Het
Pou6f1	A	G	15: 100,580,908	V373A	probably benign	Het
Ppp1r12c	T	C	7: 4,482,793	K685E	possibly damaging	Het
Rnf34	T	A	5: 122,861,894	V71D	probably damaging	Het
Rpap2	T	G	5: 107,598,290	H11Q	possibly damaging	Het
Skint2	A	G	4: 112,639,637	T247A	probably benign	Het
Stat5b	T	A	11: 100,801,524	N145Y	probably damaging	Het
Sv2b	A	G	7: 75,206,269	L91P	probably damaging	Het
Syt1	A	G	10: 108,504,515	I314T	probably damaging	Het
Tlk1	A	T	2: 70,742,158	N355K	probably benign	Het
Tnc	C	A	4: 63,972,736	M1636I	probably benign	Het
Trank1	C	A	9: 111,333,775	A34D	probably damaging	Het
Unc13c	A	G	9: 73,812,383	I1001T	probably benign	Het
Vdr	T	C	15: 97,867,255	D201G	probably benign	Het
Vmn2r115	A	T	17: 23,345,333	I160L	probably benign	Het
Wdr81	C	A	11: 75,444,424	R1772L	probably damaging	Het
Zfp457	T	C	13: 67,294,004	D169G	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	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
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
R9367:Hapln3	UTSW	7	79121707	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTTCCAGGCCATCGATGAC -3'
(R):5'- CAGGCACTTGTAGGAATGGG -3'

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

Posted On

2021-12-30