Mutagenetix > Incidental Mutation

Incidental Mutation 'R7151:Neu2'

554097

Institutional Source

Beutler Lab

Gene Symbol

Neu2

Ensembl Gene

ENSMUSG00000079434

Gene Name

neuraminidase 2

Synonyms

brain sialidase, MTS, cystolic sialidase, MSS, MBS

MMRRC Submission

045253-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87501749-87525567 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87524297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 94 (E94G)

Ref Sequence

ENSEMBL: ENSMUSP00000131409 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070898] [ENSMUST00000163606] [ENSMUST00000164128] [ENSMUST00000165109] [ENSMUST00000166055] [ENSMUST00000166259] [ENSMUST00000172222]

AlphaFold

Q9JMH3

Predicted Effect

probably benign
Transcript: ENSMUST00000070898
AA Change: E80G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000065439
Gene: ENSMUSG00000079434
AA Change: E80G

Domain	Start	End	E-Value	Type
Pfam:BNR_2	32	345	4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163606

SMART Domains

Protein: ENSMUSP00000127777
Gene: ENSMUSG00000079434

Domain	Start	End	E-Value	Type
PDB:2F27\|B	15	90	1e-31	PDB
SCOP:d1eur__	19	90	1e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164128
AA Change: E86G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000127913
Gene: ENSMUSG00000079434
AA Change: E86G

Domain	Start	End	E-Value	Type
Pfam:BNR_2	38	351	1.3e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165109
AA Change: E80G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000126509
Gene: ENSMUSG00000079434
AA Change: E80G

Domain	Start	End	E-Value	Type
Pfam:BNR_2	32	345	4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166055
AA Change: E80G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000132099
Gene: ENSMUSG00000079434
AA Change: E80G

Domain	Start	End	E-Value	Type
Pfam:BNR_2	32	110	8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166259
AA Change: E80G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000132513
Gene: ENSMUSG00000079434
AA Change: E80G

Domain	Start	End	E-Value	Type
Pfam:BNR_2	32	345	4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172222
AA Change: E94G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000131409
Gene: ENSMUSG00000079434
AA Change: E94G

Domain	Start	End	E-Value	Type
Pfam:BNR_2	46	359	1.2e-43	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330409D20Rik	T	A	2: 32,630,618 (GRCm39)	Q52L	unknown	Het
Acsl1	A	G	8: 46,966,634 (GRCm39)	D202G	probably damaging	Het
Adam3	A	T	8: 25,185,271 (GRCm39)	C476S	probably damaging	Het
Adam34	T	A	8: 44,104,499 (GRCm39)	E382V	probably benign	Het
Akap5	G	A	12: 76,375,023 (GRCm39)	V152I	probably benign	Het
Aldh5a1	C	T	13: 25,121,382 (GRCm39)	W57*	probably null	Het
Angptl2	C	T	2: 33,133,922 (GRCm39)	Q415*	probably null	Het
Bnc1	G	T	7: 81,623,055 (GRCm39)	T724N	possibly damaging	Het
Brca2	T	C	5: 150,464,901 (GRCm39)	V1555A	probably benign	Het
Btn1a1	T	A	13: 23,643,483 (GRCm39)	D322V	probably damaging	Het
Chsy3	T	A	18: 59,542,357 (GRCm39)	D498E	possibly damaging	Het
Ddx24	T	C	12: 103,390,347 (GRCm39)	T215A	probably benign	Het
Dhx57	A	T	17: 80,580,476 (GRCm39)	V492E	probably damaging	Het
Dnhd1	G	A	7: 105,359,234 (GRCm39)	R3523Q	probably benign	Het
Dock3	T	A	9: 106,841,916 (GRCm39)	D971V	possibly damaging	Het
Ercc8	T	C	13: 108,323,816 (GRCm39)		probably null	Het
Erich5	T	A	15: 34,471,095 (GRCm39)	L108Q	probably damaging	Het
F5	A	T	1: 164,029,230 (GRCm39)	Y1743F	probably damaging	Het
Gale	T	C	4: 135,694,503 (GRCm39)	V243A	probably damaging	Het
Gspt1	T	A	16: 11,071,692 (GRCm39)	Q57L	probably benign	Het
Gtf3a	C	A	5: 146,888,085 (GRCm39)	Q129K	probably benign	Het
Heyl	T	C	4: 123,140,254 (GRCm39)	V271A	probably benign	Het
Hsd17b4	T	C	18: 50,261,437 (GRCm39)	F7L	probably damaging	Het
Hspa12a	T	C	19: 58,810,594 (GRCm39)	T150A	probably benign	Het
Ift140	T	A	17: 25,274,699 (GRCm39)	D790E	probably damaging	Het
Igkv4-69	T	A	6: 69,260,917 (GRCm39)	Y70F	probably damaging	Het
Il1rap	T	C	16: 26,530,878 (GRCm39)	Y405H	probably damaging	Het
Insyn2a	A	C	7: 134,520,374 (GRCm39)	I52S	probably damaging	Het
Irf2bpl	G	T	12: 86,930,127 (GRCm39)	P182Q	probably benign	Het
Itm2b	C	A	14: 73,605,829 (GRCm39)		probably benign	Het
Kcnc2	T	C	10: 112,294,414 (GRCm39)	V106A	possibly damaging	Het
Krt87	C	A	15: 101,387,529 (GRCm39)	D170Y	probably damaging	Het
Lca5	T	A	9: 83,280,693 (GRCm39)	Y369F	probably benign	Het
Mgat5	T	A	1: 127,373,999 (GRCm39)	D466E	probably damaging	Het
Mier3	C	T	13: 111,851,302 (GRCm39)	P428L	probably benign	Het
Myo6	T	C	9: 80,152,418 (GRCm39)	Y167H	unknown	Het
Nlrp9a	A	T	7: 26,256,672 (GRCm39)	K97*	probably null	Het
Npdc1	A	G	2: 25,299,120 (GRCm39)	M306V	probably damaging	Het
Odf2l	A	T	3: 144,832,827 (GRCm39)	N95I	probably benign	Het
Or10j3	A	G	1: 173,031,633 (GRCm39)	K237E	probably damaging	Het
Or13d1	G	T	4: 52,970,665 (GRCm39)	V15L	probably benign	Het
Or5t16	A	G	2: 86,819,385 (GRCm39)	V45A	probably benign	Het
Or7g21	A	G	9: 19,033,037 (GRCm39)	Y259C	possibly damaging	Het
P2ry12	A	G	3: 59,125,127 (GRCm39)	F183L	probably benign	Het
Proser3	A	G	7: 30,239,749 (GRCm39)	F452L	possibly damaging	Het
Ptgfrn	G	T	3: 100,987,511 (GRCm39)	Y117*	probably null	Het
Rab3gap2	G	T	1: 184,980,250 (GRCm39)	V360F	probably benign	Het
Rp1l1	A	T	14: 64,266,475 (GRCm39)	D687V	possibly damaging	Het
Rxfp2	T	G	5: 149,966,572 (GRCm39)	N103K	probably benign	Het
Scfd2	T	A	5: 74,558,326 (GRCm39)	Q517L	possibly damaging	Het
Scnn1b	G	A	7: 121,517,109 (GRCm39)	A582T	probably damaging	Het
Serpinb6e	T	C	13: 34,021,818 (GRCm39)	E170G	probably damaging	Het
Serpinb8	T	A	1: 107,533,527 (GRCm39)	V194E	probably damaging	Het
Sgcz	T	A	8: 38,006,833 (GRCm39)	H191L	possibly damaging	Het
Sirt1	A	T	10: 63,159,775 (GRCm39)	L435Q	probably damaging	Het
Sorcs1	G	A	19: 50,301,420 (GRCm39)	P315S	probably damaging	Het
Spdef	T	A	17: 27,939,134 (GRCm39)	S71C	possibly damaging	Het
Spta1	T	A	1: 174,025,317 (GRCm39)	H727Q	probably damaging	Het
Srsf1	C	T	11: 87,940,084 (GRCm39)	Q199*	probably null	Het
Stard9	A	T	2: 120,526,623 (GRCm39)	D960V	probably benign	Het
Tcp10c	A	T	17: 13,576,166 (GRCm39)	I49F	possibly damaging	Het
Tgm2	T	C	2: 157,971,315 (GRCm39)	N308S	possibly damaging	Het
Tiam2	A	G	17: 3,498,660 (GRCm39)	D812G	probably benign	Het
Tph1	A	T	7: 46,311,541 (GRCm39)	V67D	possibly damaging	Het
Trps1	C	T	15: 50,685,793 (GRCm39)	R794H	possibly damaging	Het
Ttn	C	T	2: 76,683,505 (GRCm39)	A906T		Het
Vmn1r124	G	A	7: 20,994,184 (GRCm39)	P120L	probably benign	Het
Vmn2r92	A	T	17: 18,387,005 (GRCm39)	T115S	probably benign	Het
Wdr11	A	G	7: 129,208,376 (GRCm39)	D377G	probably damaging	Het
Wdr55	G	T	18: 36,895,989 (GRCm39)	A251S	possibly damaging	Het
Zbtb7b	C	T	3: 89,288,209 (GRCm39)	R203H	probably benign	Het
Zfp109	A	T	7: 23,929,231 (GRCm39)	H67Q	probably benign	Het
Zfp462	G	A	4: 55,051,271 (GRCm39)	C2248Y	probably damaging	Het
Zyg11b	T	C	4: 108,102,119 (GRCm39)	H534R	possibly damaging	Het

Other mutations in Neu2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02476:Neu2	APN	1	87,524,674 (GRCm39)	missense	probably damaging	1.00
IGL03143:Neu2	APN	1	87,524,698 (GRCm39)	nonsense	probably null
R0083:Neu2	UTSW	1	87,524,984 (GRCm39)	missense	probably damaging	1.00
R0097:Neu2	UTSW	1	87,525,188 (GRCm39)	missense	probably benign
R0097:Neu2	UTSW	1	87,525,188 (GRCm39)	missense	probably benign
R1109:Neu2	UTSW	1	87,524,450 (GRCm39)	missense	probably damaging	1.00
R1921:Neu2	UTSW	1	87,525,023 (GRCm39)	missense	probably benign	0.02
R2897:Neu2	UTSW	1	87,522,782 (GRCm39)	missense	probably benign	0.01
R2898:Neu2	UTSW	1	87,522,782 (GRCm39)	missense	probably benign	0.01
R5395:Neu2	UTSW	1	87,524,397 (GRCm39)	splice site	probably null
R5867:Neu2	UTSW	1	87,524,478 (GRCm39)	missense	probably damaging	0.96
R5868:Neu2	UTSW	1	87,524,478 (GRCm39)	missense	probably damaging	0.96
R6468:Neu2	UTSW	1	87,524,600 (GRCm39)	missense	probably damaging	1.00
R6544:Neu2	UTSW	1	87,524,464 (GRCm39)	missense	probably damaging	1.00
R6610:Neu2	UTSW	1	87,524,407 (GRCm39)	missense	probably benign	0.01
R6831:Neu2	UTSW	1	87,524,455 (GRCm39)	missense	probably damaging	1.00
R8061:Neu2	UTSW	1	87,524,633 (GRCm39)	missense	probably damaging	1.00
R8172:Neu2	UTSW	1	87,524,633 (GRCm39)	missense	probably damaging	1.00
R8426:Neu2	UTSW	1	87,524,387 (GRCm39)	missense	probably damaging	1.00
R9051:Neu2	UTSW	1	87,524,965 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGTCCCTTCACAGCCTTTG -3'
(R):5'- AATGTGGCCCATTCCTGATGAG -3'

Sequencing Primer
(F):5'- TTGACTCCATCCCTAAGATAAACCTG -3'
(R):5'- CATTCCTGATGAGTGCTGCCAATG -3'

Posted On

2019-05-15