Mutagenetix > Incidental Mutation

Incidental Mutation 'R7675:Naaladl2'

592411

Institutional Source

Beutler Lab

Gene Symbol

Naaladl2

Ensembl Gene

ENSMUSG00000102758

Gene Name

N-acetylated alpha-linked acidic dipeptidase-like 2

Synonyms

LOC381500, 2810043G22Rik, EG635702

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7675 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23798102-25144261 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24551652 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 148 (M148L)

Ref Sequence

ENSEMBL: ENSMUSP00000144706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000203414]

AlphaFold

A0A0N4SUJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000203414
AA Change: M148L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000144706
Gene: ENSMUSG00000102758
AA Change: M148L

Domain	Start	End	E-Value	Type
transmembrane domain	120	142	N/A	INTRINSIC
Blast:DnaJ	163	212	3e-19	BLAST
PDB:3SJX\|A	168	734	2e-52	PDB
SCOP:d1de4c3	415	647	5e-20	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

97% (28/29)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109A12Rik	T	C	5: 93,213,374	S96P	unknown	Het
5730559C18Rik	G	T	1: 136,216,003	A565E	probably benign	Het
Acaca	A	G	11: 84,315,916	E1534G	probably benign	Het
Adam7	A	T	14: 68,499,853	D773E	probably benign	Het
C130026I21Rik	C	T	1: 85,247,015	M266I	probably benign	Het
Cacna1s	T	A	1: 136,110,874	I1398N	probably damaging	Het
Calu	C	T	6: 29,356,517	T14I	probably benign	Het
Casp8	A	G	1: 58,823,947	D2G	possibly damaging	Het
Cldn1	T	C	16: 26,371,511	N39S	probably benign	Het
Clspn	T	C	4: 126,566,320	S447P	probably benign	Het
Eef2k	A	G	7: 120,858,504	T29A	probably benign	Het
Elmsan1	G	T	12: 84,173,800	P127T	probably damaging	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Gm5519	G	C	19: 33,825,028	G157A	probably benign	Het
Gm9844	A	T	7: 24,862,359	T28S	probably benign	Het
Gucy2c	A	G	6: 136,716,032	V723A	possibly damaging	Het
Ighv1-69	A	T	12: 115,623,589	W3R	probably damaging	Het
Krtap16-1	A	G	11: 99,985,433	C382R	possibly damaging	Het
Lrrc8a	G	A	2: 30,255,668	D165N	probably damaging	Het
Nphp3	A	T	9: 104,016,088	E424D	probably benign	Het
Prpf40a	T	C	2: 53,145,636	K714R	possibly damaging	Het
Ptpn23	A	T	9: 110,387,026	L1254*	probably null	Het
Sap30l	A	G	11: 57,810,041	K174E	probably damaging	Het
Serpinb9d	C	T	13: 33,202,776	Q276*	probably null	Het
Tex14	A	G	11: 87,509,678	D432G	probably damaging	Het
Unc119	G	A	11: 78,343,597	G11R	probably damaging	Het
Usp36	A	G	11: 118,263,696	V965A	probably benign	Het
Vmn2r4	A	T	3: 64,415,236	Y21N	probably benign	Het
Zbtb38	G	T	9: 96,685,541	D1163E	probably benign	Het
Zfp62	A	G	11: 49,216,020	I313V	possibly damaging	Het
Zfp980	C	T	4: 145,701,594	Q298*	probably null	Het

Other mutations in Naaladl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6043:Naaladl2	UTSW	3	24058214	missense	possibly damaging	0.92
R6150:Naaladl2	UTSW	3	24552050	missense	probably null	0.19
R6363:Naaladl2	UTSW	3	24335317	missense	possibly damaging	0.73
R6738:Naaladl2	UTSW	3	24171642	missense	probably benign
R7259:Naaladl2	UTSW	3	24058176	missense	possibly damaging	0.69
R7664:Naaladl2	UTSW	3	24058139	missense	probably damaging	1.00
R7667:Naaladl2	UTSW	3	24413348	critical splice donor site	probably null
R7894:Naaladl2	UTSW	3	23846554	missense	possibly damaging	0.62
R8272:Naaladl2	UTSW	3	24058202	missense	probably damaging	1.00
R8557:Naaladl2	UTSW	3	24208364	missense	probably benign	0.01
R8911:Naaladl2	UTSW	3	23846593	missense	probably damaging	1.00
R9098:Naaladl2	UTSW	3	24433180	missense	probably benign	0.02
R9193:Naaladl2	UTSW	3	23846578	missense	probably damaging	1.00
R9335:Naaladl2	UTSW	3	24413368	missense	possibly damaging	0.84
R9339:Naaladl2	UTSW	3	24002982	missense	probably damaging	1.00
Z1177:Naaladl2	UTSW	3	23804978	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCATCCAGTTCAGGCTATCTC -3'
(R):5'- GGCACTCTGAGACTTTGGAC -3'

Sequencing Primer
(F):5'- TCCTTAGATTTACTTCCCAGGAAAC -3'
(R):5'- GAGACTTTGGACCTCCATCTTG -3'

Posted On

2019-11-12