Mutagenetix > Incidental Mutation

Incidental Mutation 'R6910:Hapln2'

538968

Institutional Source

Beutler Lab

Gene Symbol

Hapln2

Ensembl Gene

ENSMUSG00000004894

Gene Name

hyaluronan and proteoglycan link protein 2

Synonyms

4930401E20Rik, Bral1

MMRRC Submission

045002-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R6910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87929057-87934890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87931135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 127 (Y127H)

Ref Sequence

ENSEMBL: ENSMUSP00000005014 (fasta)

Gene Model

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

AlphaFold

Q9ESM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000005014
AA Change: Y127H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005014
Gene: ENSMUSG00000004894
AA Change: Y127H

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: 99.4%
20x: 98.2%

Validation Efficiency

100% (37/37)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cfap54	A	G	10: 92,672,374 (GRCm39)	S2899P	probably benign	Het
Chil5	A	G	3: 105,926,977 (GRCm39)	W82R	probably damaging	Het
Dennd3	A	G	15: 73,426,965 (GRCm39)	T781A	probably benign	Het
Epha2	A	G	4: 141,048,824 (GRCm39)	D597G	probably damaging	Het
Gcn1	A	G	5: 115,744,597 (GRCm39)	T1598A	probably benign	Het
Glp2r	A	G	11: 67,621,497 (GRCm39)	F162S	probably benign	Het
Gm17655	T	A	5: 110,195,039 (GRCm39)	R248*	probably null	Het
Gnptab	G	A	10: 88,267,258 (GRCm39)	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Hdac4	G	T	1: 91,909,875 (GRCm39)	T463K	probably damaging	Het
Ift80	A	C	3: 68,835,068 (GRCm39)	S458A	probably benign	Het
Lama1	A	G	17: 68,098,459 (GRCm39)	D1846G	possibly damaging	Het
Map3k8	A	G	18: 4,340,801 (GRCm39)	I171T	probably benign	Het
Micu1	A	G	10: 59,576,489 (GRCm39)	E115G	probably damaging	Het
Mrpl39	A	G	16: 84,532,080 (GRCm39)	V9A	unknown	Het
Ncoa7	T	G	10: 30,570,117 (GRCm39)	I281L	possibly damaging	Het
Nms	A	G	1: 38,980,976 (GRCm39)	E54G	probably benign	Het
Nrip1	G	A	16: 76,091,305 (GRCm39)	A84V	probably damaging	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or11g27	G	A	14: 50,771,330 (GRCm39)	V154M	probably benign	Het
Pcdhga10	T	A	18: 37,881,285 (GRCm39)	S349T	probably damaging	Het
R3hcc1	G	A	14: 69,935,024 (GRCm39)	P454L	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr3	T	C	2: 112,788,520 (GRCm39)	D170G	probably damaging	Het
Sanbr	A	G	11: 23,570,447 (GRCm39)	V151A	probably damaging	Het
Scp2	C	A	4: 107,962,283 (GRCm39)	G81C	probably damaging	Het
Sez6	A	G	11: 77,844,695 (GRCm39)	T173A	possibly damaging	Het
Syne1	T	C	10: 4,998,887 (GRCm39)	H8142R	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tnfrsf11a	A	G	1: 105,772,272 (GRCm39)	T520A	probably damaging	Het
Tpm1	A	G	9: 66,939,256 (GRCm39)	S170P	probably damaging	Het
Try5	T	C	6: 41,288,733 (GRCm39)	D54G	possibly damaging	Het
Vmn2r-ps158	T	C	7: 42,673,475 (GRCm39)	F178L	probably benign	Het
Zan	T	C	5: 137,417,342 (GRCm39)	E3041G	unknown	Het
Zfp1001	A	T	2: 150,165,987 (GRCm39)	Q56L	probably benign	Het
Zfp616	A	T	11: 73,975,828 (GRCm39)	H699L	probably damaging	Het

Other mutations in Hapln2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Hapln2	APN	3	87,931,641 (GRCm39)	missense	possibly damaging	0.82
IGL01644:Hapln2	APN	3	87,929,944 (GRCm39)	missense	probably damaging	0.99
IGL03177:Hapln2	APN	3	87,930,078 (GRCm39)	missense	probably damaging	1.00
R0349:Hapln2	UTSW	3	87,930,936 (GRCm39)	missense	probably damaging	1.00
R1546:Hapln2	UTSW	3	87,931,404 (GRCm39)	missense	probably benign	0.01
R1791:Hapln2	UTSW	3	87,931,712 (GRCm39)	missense	possibly damaging	0.66
R1842:Hapln2	UTSW	3	87,931,308 (GRCm39)	missense	probably damaging	1.00
R1922:Hapln2	UTSW	3	87,930,684 (GRCm39)	missense	probably benign	0.22
R1970:Hapln2	UTSW	3	87,931,427 (GRCm39)	critical splice acceptor site	probably null
R2152:Hapln2	UTSW	3	87,930,920 (GRCm39)	missense	probably benign	0.21
R5017:Hapln2	UTSW	3	87,931,308 (GRCm39)	missense	probably damaging	1.00
R6190:Hapln2	UTSW	3	87,930,600 (GRCm39)	missense	probably damaging	1.00
R6852:Hapln2	UTSW	3	87,929,958 (GRCm39)	missense	possibly damaging	0.61
R7585:Hapln2	UTSW	3	87,929,980 (GRCm39)	missense	probably damaging	1.00
R8270:Hapln2	UTSW	3	87,930,851 (GRCm39)	missense	possibly damaging	0.88
R9537:Hapln2	UTSW	3	87,931,780 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AATTGAACTGGTAGCGGCCTC -3'
(R):5'- GCTACAAAGTACGCTGGAGC -3'

Sequencing Primer
(F):5'- CTGGGTTGGTACGGAAACACC -3'
(R):5'- CTGGAGCAAAGTGGAGCCC -3'

Posted On

2018-11-06