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

4930554N11Rik, Lpr3

MMRRC Submission

043164-MU

Accession Numbers

Essential gene?

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

Stock #

R5625 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

78764850-78780766 bp(-) (GRCm39)

Type of Mutation

splice site (2631 bp from exon)

DNA Base Change (assembly)

G to T at 78767006 bp (GRCm39)

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: 44,189,333 (GRCm39)	D388A	probably benign	Het
Ampd3	A	C	7: 110,401,730 (GRCm39)	E408A	probably damaging	Het
Bmp1	G	T	14: 70,723,606 (GRCm39)	N743K	probably benign	Het
Brsk1	A	G	7: 4,709,399 (GRCm39)	K398E	probably damaging	Het
Ccdc157	A	T	11: 4,101,888 (GRCm39)	M11K	probably damaging	Het
Cep295	A	C	9: 15,252,187 (GRCm39)	M394R	probably damaging	Het
Cfap44	G	T	16: 44,280,710 (GRCm39)		probably null	Het
Col13a1	C	T	10: 61,679,388 (GRCm39)	G713R	unknown	Het
Cxcr2	A	T	1: 74,197,991 (GRCm39)	K162*	probably null	Het
Cyp3a44	C	T	5: 145,716,376 (GRCm39)	D405N	possibly damaging	Het
Exo1	G	T	1: 175,721,380 (GRCm39)	D340Y	possibly damaging	Het
Farp2	T	G	1: 93,456,470 (GRCm39)	L51R	probably damaging	Het
Fat4	A	T	3: 38,943,083 (GRCm39)	I659F	possibly damaging	Het
Gbp2b	T	A	3: 142,304,806 (GRCm39)	W81R	probably damaging	Het
Gipc2	C	T	3: 151,871,541 (GRCm39)		probably benign	Het
Gm10941	G	T	10: 77,094,670 (GRCm39)		probably benign	Het
Gm1988	A	T	7: 38,823,229 (GRCm39)		noncoding transcript	Het
Ifi213	A	G	1: 173,396,629 (GRCm39)	S482P	possibly damaging	Het
Insc	A	G	7: 114,428,302 (GRCm39)	T92A	probably damaging	Het
Lrrn1	T	A	6: 107,544,315 (GRCm39)	C38S	probably damaging	Het
Mycbpap	T	C	11: 94,396,519 (GRCm39)	E107G	probably damaging	Het
Neb	A	T	2: 52,067,547 (GRCm39)	L5848*	probably null	Het
Nrg3	A	T	14: 38,092,950 (GRCm39)	M545K	probably damaging	Het
Nudt3	A	G	17: 27,802,202 (GRCm39)	L28P	probably damaging	Het
Or8g35	T	A	9: 39,381,099 (GRCm39)	M308L	probably benign	Het
Otop1	A	T	5: 38,460,104 (GRCm39)	Y557F	probably damaging	Het
Pcare	T	A	17: 72,058,321 (GRCm39)	D452V	probably damaging	Het
Pdgfra	G	A	5: 75,349,998 (GRCm39)		probably null	Het
Pi4kb	A	G	3: 94,891,988 (GRCm39)	M223V	probably benign	Het
Piezo1	T	C	8: 123,209,699 (GRCm39)	T2335A	probably benign	Het
Ppp6c	A	G	2: 39,087,453 (GRCm39)	V251A	probably benign	Het
Prkg1	C	T	19: 31,742,162 (GRCm39)	E21K	possibly damaging	Het
Ptpru	T	C	4: 131,530,691 (GRCm39)	E521G	probably null	Het
Rasl10b	G	T	11: 83,309,640 (GRCm39)	R199L	probably damaging	Het
Rhbdf2	G	A	11: 116,496,203 (GRCm39)	R111C	probably damaging	Het
Sec23ip	G	T	7: 128,346,707 (GRCm39)		probably benign	Het
Sptbn5	A	T	2: 119,910,273 (GRCm39)		noncoding transcript	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Syne2	T	C	12: 76,141,886 (GRCm39)	S6141P	probably benign	Het
Szt2	A	G	4: 118,230,414 (GRCm39)	V2653A	unknown	Het
Tex46	T	C	4: 136,337,925 (GRCm39)	F39S	probably damaging	Het
Tmem50a	AACCA	AA	4: 134,625,778 (GRCm39)		probably benign	Het
Tmem62	G	T	2: 120,820,874 (GRCm39)	W180L	probably damaging	Het
Tnxb	G	A	17: 34,904,185 (GRCm39)	A1232T	probably benign	Het
Tubgcp3	T	C	8: 12,674,888 (GRCm39)	H744R	possibly damaging	Het
Uggt2	A	G	14: 119,315,136 (GRCm39)	I311T	probably damaging	Het
Usp8	C	T	2: 126,584,197 (GRCm39)	R469C	probably damaging	Het
Vmn1r19	T	C	6: 57,382,281 (GRCm39)	L278S	probably damaging	Het
Vmn2r129	A	T	4: 156,686,505 (GRCm39)		noncoding transcript	Het
Vmn2r59	A	T	7: 41,695,884 (GRCm39)	I176N	probably benign	Het
Wdr93	A	G	7: 79,420,766 (GRCm39)	T376A	probably benign	Het
Zfp575	G	A	7: 24,285,077 (GRCm39)	A188V	possibly damaging	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
R1351:Hapln3	UTSW	7	78,771,708 (GRCm39)	missense	probably damaging	1.00
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
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'- TAAGCCAATGGACCCCAAGTG -3'
(R):5'- ATGGTGCACAGATCTCCACG -3'

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

Posted On

2016-11-08