Mutagenetix > Incidental Mutation

Incidental Mutation 'R6831:Neu2'

537829

Institutional Source

Beutler Lab

Gene Symbol

Neu2

Ensembl Gene

ENSMUSG00000079434

Gene Name

neuraminidase 2

Synonyms

brain sialidase, MTS, cystolic sialidase, MSS, MBS

MMRRC Submission

044941-MU

Accession Numbers

Essential gene?

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

Stock #

R6831 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87501749-87525567 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87524455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 147 (G147R)

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 damaging
Transcript: ENSMUST00000070898
AA Change: G133R

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

SMART Domains

Protein: ENSMUSP00000065439
Gene: ENSMUSG00000079434
AA Change: G133R

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 damaging
Transcript: ENSMUST00000164128
AA Change: G139R

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

SMART Domains

Protein: ENSMUSP00000127913
Gene: ENSMUSG00000079434
AA Change: G139R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165109
AA Change: G133R

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

SMART Domains

Protein: ENSMUSP00000126509
Gene: ENSMUSG00000079434
AA Change: G133R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166055

SMART Domains

Protein: ENSMUSP00000132099
Gene: ENSMUSG00000079434

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166259
AA Change: G133R

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

SMART Domains

Protein: ENSMUSP00000132513
Gene: ENSMUSG00000079434
AA Change: G133R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000172222
AA Change: G147R

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

SMART Domains

Protein: ENSMUSP00000131409
Gene: ENSMUSG00000079434
AA Change: G147R

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

Meta Mutation Damage Score

0.8884

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	G	10: 29,100,675 (GRCm39)	D349E	probably benign	Het
Adam28	C	T	14: 68,855,576 (GRCm39)	A630T	probably benign	Het
Akr1cl	C	T	1: 65,053,831 (GRCm39)		probably null	Het
Alcam	A	G	16: 52,130,264 (GRCm39)	Y29H	probably benign	Het
Alg3	A	T	16: 20,427,497 (GRCm39)	S25T	probably damaging	Het
Amdhd1	T	G	10: 93,363,118 (GRCm39)	L323F	probably damaging	Het
Apcdd1	C	A	18: 63,083,197 (GRCm39)	Y342*	probably null	Het
Aqp9	T	A	9: 71,069,702 (GRCm39)		probably benign	Het
Arhgef5	A	G	6: 43,257,933 (GRCm39)	T1326A	probably damaging	Het
Cacna1a	T	C	8: 85,297,860 (GRCm39)	V1238A	probably damaging	Het
Cep128	T	C	12: 91,233,748 (GRCm39)	D440G	probably damaging	Het
Dnah5	G	C	15: 28,411,661 (GRCm39)	G3677R	possibly damaging	Het
Dst	T	A	1: 34,229,765 (GRCm39)	C2631S	probably benign	Het
E330034G19Rik	T	C	14: 24,346,163 (GRCm39)	S25P	probably benign	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fat3	C	A	9: 16,287,847 (GRCm39)	V559L	probably damaging	Het
Fra10ac1	A	T	19: 38,195,737 (GRCm39)	I162K	probably benign	Het
Glrx3	C	T	7: 137,060,951 (GRCm39)	T195M	possibly damaging	Het
Gm9949	T	A	18: 62,313,616 (GRCm39)		probably benign	Het
Hbs1l	T	C	10: 21,217,767 (GRCm39)	S228P	probably benign	Het
Hmcn1	G	A	1: 150,646,044 (GRCm39)	T718I	probably benign	Het
Igf1r	T	C	7: 67,857,067 (GRCm39)	S1010P	possibly damaging	Het
Inpp5d	T	A	1: 87,629,198 (GRCm39)	Y394*	probably null	Het
Itpr2	G	A	6: 146,013,927 (GRCm39)	T2623M	probably damaging	Het
Kif21b	T	A	1: 136,072,496 (GRCm39)	C67*	probably null	Het
Lama1	T	A	17: 68,063,749 (GRCm39)	C758S	possibly damaging	Het
Mdga1	T	A	17: 30,106,490 (GRCm39)	K274*	probably null	Het
Nkx1-1	A	T	5: 33,591,147 (GRCm39)	S58R	unknown	Het
Or2ag16	A	T	7: 106,351,778 (GRCm39)	N272K	probably damaging	Het
Or52e4	A	G	7: 104,706,086 (GRCm39)	D211G	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacs1	T	A	19: 5,210,823 (GRCm39)	I151F	probably damaging	Het
Pamr1	C	T	2: 102,445,276 (GRCm39)	R270C	probably damaging	Het
Pclo	C	T	5: 14,838,443 (GRCm39)	Q1417*	probably null	Het
Pkm	G	C	9: 59,582,398 (GRCm39)	M409I	probably benign	Het
Plbd2	T	A	5: 120,631,131 (GRCm39)	K215N	probably benign	Het
Polk	T	C	13: 96,631,999 (GRCm39)	K245E	possibly damaging	Het
Pramel17	T	A	4: 101,694,094 (GRCm39)	Q263L	probably benign	Het
Prl	T	G	13: 27,243,530 (GRCm39)	I65S	probably benign	Het
Proser3	T	C	7: 30,239,781 (GRCm39)	H441R	probably benign	Het
Psmb3	A	G	11: 97,597,728 (GRCm39)	K98R	probably benign	Het
Ptpn20	T	C	14: 33,354,882 (GRCm39)	V319A	probably damaging	Het
Ptprj	A	T	2: 90,290,991 (GRCm39)	Y397N	probably damaging	Het
Rp1	T	C	1: 4,420,087 (GRCm39)		probably null	Het
Sgsm1	T	A	5: 113,428,246 (GRCm39)	Y314F	probably damaging	Het
Sh3pxd2a	G	A	19: 47,271,532 (GRCm39)	R244C	probably damaging	Het
Sspo	G	A	6: 48,461,767 (GRCm39)	V3466M	possibly damaging	Het
Syne2	T	A	12: 76,013,568 (GRCm39)	F2921I	probably benign	Het
Trank1	T	A	9: 111,206,967 (GRCm39)	M1700K	probably benign	Het
Trmt112	T	A	19: 6,887,563 (GRCm39)	L4H	probably damaging	Het
Trmu	A	G	15: 85,779,207 (GRCm39)	T285A	probably benign	Het
Ttn	A	G	2: 76,601,846 (GRCm39)		probably null	Het
Vmn2r-ps158	G	C	7: 42,673,004 (GRCm39)	A143P	probably damaging	Het
Zc3hav1	A	T	6: 38,309,103 (GRCm39)	M573K	probably benign	Het
Zcchc8	T	C	5: 123,838,972 (GRCm39)	E522G	probably damaging	Het
Zfp354a	T	C	11: 50,961,381 (GRCm39)	S529P	probably damaging	Het
Zfp735	G	A	11: 73,601,434 (GRCm39)	G126D	probably 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
R7151:Neu2	UTSW	1	87,524,297 (GRCm39)	missense	probably benign	0.04
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'- ACATTCAGTGGCAGCCTGAG -3'
(R):5'- AGTTTCCATGTGTGCCCATG -3'

Sequencing Primer
(F):5'- AAGTGGTGACCCAAGCCCAG -3'
(R):5'- CATGTGTGCCCATGGTCAAG -3'

Posted On

2018-10-18