Mutagenetix > Incidental Mutation

Incidental Mutation 'R9537:Hapln2'

719726

Institutional Source

Beutler Lab

Gene Symbol

Hapln2

Ensembl Gene

ENSMUSG00000004894

Gene Name

hyaluronan and proteoglycan link protein 2

Synonyms

4930401E20Rik, Bral1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R9537 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88021750-88027583 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 88024473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000005014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005014] [ENSMUST00000005014] [ENSMUST00000005014] [ENSMUST00000005014] [ENSMUST00000160150]

AlphaFold

Q9ESM3

Predicted Effect

probably null
Transcript: ENSMUST00000005014

SMART Domains

Protein: ENSMUSP00000005014
Gene: ENSMUSG00000004894

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
IGv	53	131	1.43e-8	SMART
LINK	147	243	4.25e-44	SMART
LINK	247	339	9.41e-37	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000005014

SMART Domains

Protein: ENSMUSP00000005014
Gene: ENSMUSG00000004894

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
IGv	53	131	1.43e-8	SMART
LINK	147	243	4.25e-44	SMART
LINK	247	339	9.41e-37	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000005014

SMART Domains

Protein: ENSMUSP00000005014
Gene: ENSMUSG00000004894

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
IGv	53	131	1.43e-8	SMART
LINK	147	243	4.25e-44	SMART
LINK	247	339	9.41e-37	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000005014

SMART Domains

Protein: ENSMUSP00000005014
Gene: ENSMUSG00000004894

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
IGv	53	131	1.43e-8	SMART
LINK	147	243	4.25e-44	SMART
LINK	247	339	9.41e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160150

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display reduced nerve conduction velocity and abnormalities in the neuronal extracellular matrix. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,153,162	K341E	possibly damaging	Het
Adgra3	A	G	5: 49,960,865	Y1114H	possibly damaging	Het
Atp5j	A	G	16: 84,828,470	Y82H	probably damaging	Het
Bcl2a1d	T	G	9: 88,731,473	I83L	probably benign	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Bglap3	T	C	3: 88,368,832	D71G	probably benign	Het
Bnip3l	G	A	14: 67,008,765	P7L	possibly damaging	Het
Chmp2b	T	C	16: 65,551,046	K15E	probably benign	Het
Chrm3	A	T	13: 9,877,426	W525R	probably damaging	Het
Col7a1	A	T	9: 108,955,352	K143*	probably null	Het
D6Ertd527e	G	C	6: 87,111,857	S334T	unknown	Het
Dnaic1	A	G	4: 41,629,790		probably null	Het
Dnhd1	G	A	7: 105,695,533	G2028D	probably damaging	Het
Esyt3	C	T	9: 99,317,239	R773Q	probably damaging	Het
Ffar1	T	C	7: 30,860,600	T291A	probably benign	Het
Gm5767	G	T	16: 8,683,313	C11F		Het
Golga2	G	T	2: 32,288,301		probably benign	Het
Ing1	T	C	8: 11,561,889	L203P	probably benign	Het
Med1	T	C	11: 98,171,760	T171A	possibly damaging	Het
Mib2	A	T	4: 155,657,495	L387H	probably damaging	Het
Mier1	A	G	4: 103,162,561	N494S	probably benign	Het
Myof	A	G	19: 37,907,606	L1847P	probably damaging	Het
Ndst3	A	T	3: 123,671,513	V270D		Het
Nup160	T	C	2: 90,729,744	L1271S	possibly damaging	Het
Osgep	A	T	14: 50,924,662		probably null	Het
Ptgfr	G	T	3: 151,835,808	T21N	possibly damaging	Het
Ptgs1	T	C	2: 36,230,727	S23P	unknown	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,914		probably benign	Het
Smu1	A	G	4: 40,755,671	S65P	probably benign	Het
Spef2	T	C	15: 9,601,799	Y1459C	unknown	Het
Spen	A	G	4: 141,471,704	V3204A	probably benign	Het
Spen	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	4: 141,516,845		probably benign	Het
Timm44	G	A	8: 4,260,576	T392I	possibly damaging	Het
Tnc	A	T	4: 63,966,584	I1818N	probably damaging	Het
Trpm1	G	T	7: 64,153,868		probably benign	Het
Ttc14	A	G	3: 33,803,198	Y231C	probably damaging	Het
Ube3b	A	G	5: 114,387,184	R23G	probably damaging	Het
Usp40	T	C	1: 88,007,395	Y10C	probably benign	Het
Vmn2r107	C	A	17: 20,374,887	S567R	probably benign	Het
Zfp112	T	C	7: 24,127,087	Y831H	probably damaging	Het
Zfy2	T	A	Y: 2,108,596	T355S		Het

Other mutations in Hapln2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Hapln2	APN	3	88024334	missense	possibly damaging	0.82
IGL01644:Hapln2	APN	3	88022637	missense	probably damaging	0.99
IGL03177:Hapln2	APN	3	88022771	missense	probably damaging	1.00
R0349:Hapln2	UTSW	3	88023629	missense	probably damaging	1.00
R1546:Hapln2	UTSW	3	88024097	missense	probably benign	0.01
R1791:Hapln2	UTSW	3	88024405	missense	possibly damaging	0.66
R1842:Hapln2	UTSW	3	88024001	missense	probably damaging	1.00
R1922:Hapln2	UTSW	3	88023377	missense	probably benign	0.22
R1970:Hapln2	UTSW	3	88024120	critical splice acceptor site	probably null
R2152:Hapln2	UTSW	3	88023613	missense	probably benign	0.21
R5017:Hapln2	UTSW	3	88024001	missense	probably damaging	1.00
R6190:Hapln2	UTSW	3	88023293	missense	probably damaging	1.00
R6852:Hapln2	UTSW	3	88022651	missense	possibly damaging	0.61
R6910:Hapln2	UTSW	3	88023828	missense	probably damaging	1.00
R7585:Hapln2	UTSW	3	88022673	missense	probably damaging	1.00
R8270:Hapln2	UTSW	3	88023544	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TAGGGACTTTCAACAGCTGCC -3'
(R):5'- ATTCCAATGGAAGGCCTGGG -3'

Sequencing Primer
(F):5'- GGTCCCCTACCCCAGTGTTC -3'
(R):5'- AGGCCTGGGGAGTAGCTG -3'

Posted On

2022-07-18