Mutagenetix > Incidental Mutation

Incidental Mutation 'R1351:Hapln3'

156654

Institutional Source

Beutler Lab

Gene Symbol

Hapln3

Ensembl Gene

ENSMUSG00000030606

Gene Name

hyaluronan and proteoglycan link protein 3

Synonyms

4930554N11Rik, Lpr3

MMRRC Submission

039416-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R1351 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78764850-78780766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78771708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 60 (S60R)

Ref Sequence

ENSEMBL: ENSMUSP00000032827 (fasta)

Gene Model

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

AlphaFold

Q80WM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000032827
AA Change: S60R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032827
Gene: ENSMUSG00000030606
AA Change: S60R

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

possibly damaging
Transcript: ENSMUST00000205782
AA Change: S60R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206092
AA Change: S60R

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206402

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (51/51)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef26	A	G	3: 62,288,262 (GRCm39)	E444G	probably damaging	Het
Astl	G	A	2: 127,189,105 (GRCm39)	V144M	possibly damaging	Het
AW146154	A	T	7: 41,129,878 (GRCm39)	C413S	probably damaging	Het
Bicdl2	G	A	17: 23,886,519 (GRCm39)		probably benign	Het
Cacna1h	G	T	17: 25,610,925 (GRCm39)	S624R	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cep126	C	T	9: 8,100,087 (GRCm39)	E816K	probably damaging	Het
Cyp2j13	T	C	4: 95,945,155 (GRCm39)	K291R	probably benign	Het
Defb26	A	T	2: 152,349,737 (GRCm39)	M181K	unknown	Het
Dicer1	G	A	12: 104,695,401 (GRCm39)	R177C	probably damaging	Het
Eif4g2	A	G	7: 110,673,287 (GRCm39)	Y831H	probably damaging	Het
Ermap	C	T	4: 119,038,558 (GRCm39)		probably null	Het
Fcamr	C	T	1: 130,740,757 (GRCm39)	T392I	possibly damaging	Het
Fgf3	T	C	7: 144,394,517 (GRCm39)		probably benign	Het
Gpr162	T	C	6: 124,838,161 (GRCm39)	Y163C	probably damaging	Het
Gprc5d	T	C	6: 135,093,230 (GRCm39)	R226G	possibly damaging	Het
Hif1a	T	C	12: 73,987,235 (GRCm39)	S443P	probably benign	Het
Irf2bpl	A	G	12: 86,929,398 (GRCm39)	M425T	probably benign	Het
Lrrc39	G	T	3: 116,359,469 (GRCm39)	A5S	possibly damaging	Het
Mbtps1	A	G	8: 120,244,901 (GRCm39)	L850S	possibly damaging	Het
Mios	T	A	6: 8,228,120 (GRCm39)	M679K	possibly damaging	Het
Mocos	T	C	18: 24,793,107 (GRCm39)	F68S	probably damaging	Het
Nuf2	T	C	1: 169,338,118 (GRCm39)		probably benign	Het
Or51k1	A	G	7: 103,661,523 (GRCm39)	Y129H	possibly damaging	Het
Orc1	T	A	4: 108,452,564 (GRCm39)	D146E	probably benign	Het
Pcdhb22	T	C	18: 37,651,627 (GRCm39)	F32L	probably benign	Het
Pde4d	G	T	13: 110,087,809 (GRCm39)	E562D	possibly damaging	Het
Pgk2	T	C	17: 40,518,691 (GRCm39)	K246E	probably damaging	Het
Plekhh2	A	T	17: 84,884,574 (GRCm39)		probably benign	Het
Pou3f2	A	T	4: 22,487,162 (GRCm39)	C324S	probably damaging	Het
Prkdc	C	T	16: 15,485,564 (GRCm39)	L464F	possibly damaging	Het
Prrc2a	T	C	17: 35,376,863 (GRCm39)	H749R	possibly damaging	Het
Rad18	T	C	6: 112,597,863 (GRCm39)	N218S	possibly damaging	Het
Rbm11	T	C	16: 75,393,531 (GRCm39)	Y76H	possibly damaging	Het
Rif1	T	G	2: 52,001,567 (GRCm39)	Y1674D	possibly damaging	Het
Rrp1b	A	G	17: 32,275,611 (GRCm39)	H386R	possibly damaging	Het
Sacs	T	C	14: 61,440,210 (GRCm39)	V752A	probably benign	Het
Sema3c	A	G	5: 17,883,334 (GRCm39)	D314G	possibly damaging	Het
Spata2l	G	A	8: 123,960,072 (GRCm39)	R406C	probably damaging	Het
Tacc2	C	T	7: 130,264,733 (GRCm39)		probably benign	Het
Tent4b	C	A	8: 88,927,002 (GRCm39)	Y137*	probably null	Het
Trpc4	A	G	3: 54,102,423 (GRCm39)	E107G	probably damaging	Het
Vmn2r70	A	G	7: 85,214,262 (GRCm39)	S297P	probably damaging	Het
Xdh	A	G	17: 74,230,073 (GRCm39)	I286T	probably benign	Het
Zfp608	T	C	18: 55,031,463 (GRCm39)	T826A	probably benign	Het
Zfp646	T	A	7: 127,482,683 (GRCm39)	V1620E	probably benign	Het
Zfyve28	T	G	5: 34,389,549 (GRCm39)	D217A	probably damaging	Het
Zmym6	G	A	4: 127,016,798 (GRCm39)	G768R	probably benign	Het

Other mutations in Hapln3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Hapln3	APN	7	78,771,731 (GRCm39)	missense	probably damaging	1.00
IGL01412:Hapln3	APN	7	78,767,184 (GRCm39)	splice site	probably null
IGL02141:Hapln3	APN	7	78,767,893 (GRCm39)	missense	probably damaging	0.99
IGL02675:Hapln3	APN	7	78,767,596 (GRCm39)	critical splice donor site	probably null
IGL02864:Hapln3	APN	7	78,767,812 (GRCm39)	missense	probably benign	0.03
IGL02894:Hapln3	APN	7	78,771,521 (GRCm39)	missense	probably benign	0.03
R1271:Hapln3	UTSW	7	78,767,764 (GRCm39)	missense	probably damaging	1.00
R1337:Hapln3	UTSW	7	78,767,824 (GRCm39)	missense	probably benign	0.06
R1686:Hapln3	UTSW	7	78,771,638 (GRCm39)	missense	probably benign	0.13
R1718:Hapln3	UTSW	7	78,773,198 (GRCm39)	missense	unknown
R3103:Hapln3	UTSW	7	78,771,484 (GRCm39)	missense	probably benign	0.07
R5625:Hapln3	UTSW	7	78,767,006 (GRCm39)	splice site	probably null
R5669:Hapln3	UTSW	7	78,767,244 (GRCm39)	splice site	probably null
R5862:Hapln3	UTSW	7	78,771,639 (GRCm39)	missense	possibly damaging	0.84
R5875:Hapln3	UTSW	7	78,771,721 (GRCm39)	missense	probably benign	0.03
R7129:Hapln3	UTSW	7	78,771,572 (GRCm39)	missense	probably damaging	1.00
R7439:Hapln3	UTSW	7	78,767,017 (GRCm39)	missense	probably benign	0.00
R7713:Hapln3	UTSW	7	78,767,121 (GRCm39)	missense	probably benign	0.00
R8894:Hapln3	UTSW	7	78,767,239 (GRCm39)	missense	probably benign	0.00
R8896:Hapln3	UTSW	7	78,767,239 (GRCm39)	missense	probably benign	0.00
R8933:Hapln3	UTSW	7	78,767,378 (GRCm39)	unclassified	probably benign
R9114:Hapln3	UTSW	7	78,771,712 (GRCm39)	missense	probably benign	0.00
R9367:Hapln3	UTSW	7	78,771,455 (GRCm39)	missense	probably damaging	0.98
R9723:Hapln3	UTSW	7	78,771,736 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCTGTCTCCTATGAGCTGTGGAACC -3'
(R):5'- GCATCCTGCAACAATTGAGTCTGAAG -3'

Sequencing Primer
(F):5'- ctcgcctcatttcctcctc -3'
(R):5'- CTGAAGGGGCTTGGGATGAG -3'

Posted On

2014-02-11