Mutagenetix > Incidental Mutation

Incidental Mutation 'R1842:Hapln2'

205804

Institutional Source

Beutler Lab

Gene Symbol

Hapln2

Ensembl Gene

ENSMUSG00000004894

Gene Name

hyaluronan and proteoglycan link protein 2

Synonyms

4930401E20Rik, Bral1

MMRRC Submission

039867-MU

Accession Numbers

Essential gene?

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

Stock #

R1842 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

87929057-87934890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87931308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 69 (V69A)

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: V69A

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

SMART Domains

Protein: ENSMUSP00000005014
Gene: ENSMUSG00000004894
AA Change: V69A

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

unknown
Transcript: ENSMUST00000160150
AA Change: Y33H

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162352

Meta Mutation Damage Score

0.5227

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 90.8%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,087,865 (GRCm39)	N1087K	probably benign	Het
Abcc3	G	A	11: 94,250,438 (GRCm39)	T921I	probably benign	Het
Abr	T	A	11: 76,399,812 (GRCm39)	I4F	probably damaging	Het
Adcy10	T	A	1: 165,330,812 (GRCm39)	V25D	probably damaging	Het
Ahnak	T	A	19: 8,983,231 (GRCm39)	M1505K	probably damaging	Het
Alms1-ps2	T	C	6: 85,773,231 (GRCm39)		noncoding transcript	Het
Apob	C	G	12: 8,061,559 (GRCm39)	T3347S	probably damaging	Het
Arhgap27	C	A	11: 103,230,822 (GRCm39)	G11W	probably damaging	Het
Ccdc110	A	T	8: 46,393,605 (GRCm39)	I106F	probably damaging	Het
Ccdc28b	T	A	4: 129,514,806 (GRCm39)	D101V	probably damaging	Het
Ccdc30	T	C	4: 119,188,324 (GRCm39)	E566G	probably benign	Het
Cenpm	T	C	15: 82,123,565 (GRCm39)	S111G	probably benign	Het
Cep55	A	G	19: 38,046,348 (GRCm39)	I34V	probably benign	Het
Dcdc2a	T	C	13: 25,291,585 (GRCm39)	L190S	probably damaging	Het
Dhh	T	C	15: 98,792,441 (GRCm39)		probably null	Het
Dst	A	G	1: 34,203,200 (GRCm39)	N703S	probably null	Het
E030025P04Rik	G	A	11: 109,030,396 (GRCm39)	L164F	unknown	Het
Efcab5	A	G	11: 77,025,701 (GRCm39)	V538A	probably benign	Het
Egflam	A	G	15: 7,333,422 (GRCm39)	S177P	probably benign	Het
Ehbp1l1	A	T	19: 5,775,958 (GRCm39)	C31S	probably damaging	Het
Eif2d	C	A	1: 131,098,797 (GRCm39)	Q532K	probably damaging	Het
Elf3	T	C	1: 135,184,531 (GRCm39)	D175G	possibly damaging	Het
F5	T	C	1: 164,012,129 (GRCm39)	V449A	probably damaging	Het
Fam110a	A	T	2: 151,811,954 (GRCm39)	I272N	probably damaging	Het
Fbxo34	A	G	14: 47,768,464 (GRCm39)	D608G	probably damaging	Het
Flrt2	T	C	12: 95,746,058 (GRCm39)	L132P	probably damaging	Het
Frg2f1	A	T	4: 119,388,277 (GRCm39)	V74D	possibly damaging	Het
Gad1	G	T	2: 70,404,597 (GRCm39)	E162D	probably benign	Het
Glb1l	A	G	1: 75,177,104 (GRCm39)	V444A	probably damaging	Het
Gm10770	G	A	2: 150,021,076 (GRCm39)	T147I	probably damaging	Het
Gm43302	T	C	5: 105,425,602 (GRCm39)	I276V	probably benign	Het
Greb1	T	C	12: 16,746,244 (GRCm39)	H1314R	probably damaging	Het
Hcn1	T	C	13: 118,112,544 (GRCm39)	I836T	probably damaging	Het
Hspa5	A	G	2: 34,665,815 (GRCm39)	D553G	probably damaging	Het
Iqgap1	A	T	7: 80,410,631 (GRCm39)	I194N	probably damaging	Het
Kansl3	A	G	1: 36,390,825 (GRCm39)	V304A	probably damaging	Het
Kdm5d	C	T	Y: 927,798 (GRCm39)	S716L	probably damaging	Het
Klra6	T	C	6: 129,999,573 (GRCm39)	T132A	probably benign	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrp1	A	G	10: 127,409,337 (GRCm39)	I1594T	possibly damaging	Het
Lrp2bp	A	G	8: 46,464,152 (GRCm39)	D15G	probably benign	Het
Map4k1	T	C	7: 28,686,588 (GRCm39)	L170P	probably damaging	Het
Mast3	A	G	8: 71,233,037 (GRCm39)	F1108L	possibly damaging	Het
Mettl5	G	T	2: 69,715,686 (GRCm39)	L6I	unknown	Het
Mfsd14a	A	T	3: 116,426,057 (GRCm39)	F447I	possibly damaging	Het
Mrc2	A	G	11: 105,228,546 (GRCm39)	I642V	probably damaging	Het
Necap1	A	G	6: 122,851,547 (GRCm39)	Y7C	probably damaging	Het
Nsd1	G	A	13: 55,394,258 (GRCm39)	E723K	probably damaging	Het
Nsun3	A	T	16: 62,596,755 (GRCm39)	L121H	probably damaging	Het
Nsun6	A	T	2: 15,014,288 (GRCm39)	M284K	probably damaging	Het
Nutf2	T	C	8: 106,603,242 (GRCm39)		probably null	Het
Odad2	A	T	18: 7,223,551 (GRCm39)	D497E	probably benign	Het
Or1j20	A	T	2: 36,759,601 (GRCm39)	N8Y	probably damaging	Het
Or5d38	A	T	2: 87,954,471 (GRCm39)	M286K	probably damaging	Het
Pacs1	T	C	19: 5,205,912 (GRCm39)	E288G	probably damaging	Het
Peg10	A	T	6: 4,756,381 (GRCm39)		probably benign	Het
Rab38	G	A	7: 88,099,730 (GRCm39)	E82K	possibly damaging	Het
Rgsl1	T	A	1: 153,675,543 (GRCm39)	E206V	probably damaging	Het
Saxo5	T	A	8: 3,533,668 (GRCm39)	F295L	possibly damaging	Het
Scube3	G	A	17: 28,384,063 (GRCm39)	V521I	probably damaging	Het
Sgpp1	C	T	12: 75,762,982 (GRCm39)	V400M	probably damaging	Het
Slc18b1	T	C	10: 23,681,891 (GRCm39)	S152P	possibly damaging	Het
Slit1	A	T	19: 41,709,477 (GRCm39)		probably null	Het
Spata31d1e	T	C	13: 59,890,320 (GRCm39)	Y82C	probably damaging	Het
Spta1	A	G	1: 174,023,513 (GRCm39)	K640R	probably benign	Het
Svil	A	G	18: 5,062,373 (GRCm39)	T898A	probably damaging	Het
Timm44	A	G	8: 4,310,510 (GRCm39)		probably null	Het
Tomm40	A	G	7: 19,447,650 (GRCm39)	S127P	probably benign	Het
Vmn2r23	T	A	6: 123,706,649 (GRCm39)	V493D	possibly damaging	Het
Yeats2	T	C	16: 19,989,988 (GRCm39)	V288A	probably damaging	Het
Zfhx4	C	T	3: 5,466,558 (GRCm39)	R2239W	probably damaging	Het
Zscan2	A	C	7: 80,525,301 (GRCm39)	K341Q	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
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
R6910:Hapln2	UTSW	3	87,931,135 (GRCm39)	missense	probably damaging	1.00
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'- TGCCATTGATGAGCTCGCAG -3'
(R):5'- TCCCTAGGGAGTGAGAATCAGTG -3'

Sequencing Primer
(F):5'- AGCGGTACCGACCCTCATC -3'
(R):5'- ACTAGGTCTGAATGGGCACTTG -3'

Posted On

2014-06-23