Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03351:Naalad2'

419701

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Naalad2

Ensembl Gene

ENSMUSG00000043943

Gene Name

N-acetylated alpha-linked acidic dipeptidase 2

Synonyms

NAADALASE2, GCP3, NAALADASE2, Folh1b, GCPIII, D9Ertd285e

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.564) question?

Stock #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

18321951-18402995 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18364187 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 313 (E313V)

Ref Sequence

ENSEMBL: ENSMUSP00000130752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001826] [ENSMUST00000166825] [ENSMUST00000172171]

AlphaFold

Q9CZR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001826
AA Change: E313V

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000001826
Gene: ENSMUSG00000043943
AA Change: E313V

Domain	Start	End	E-Value	Type
transmembrane domain	47	69	N/A	INTRINSIC
Pfam:PA	198	290	2.2e-14	PFAM
Pfam:Peptidase_M28	385	593	9.4e-22	PFAM
Pfam:TFR_dimer	655	775	1.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166825
AA Change: E275V

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128674
Gene: ENSMUSG00000043943
AA Change: E275V

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:PA	155	253	2.8e-14	PFAM
Pfam:Peptidase_M28	360	554	8.2e-18	PFAM
Pfam:TFR_dimer	616	739	3.8e-42	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172171
AA Change: E313V

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130752
Gene: ENSMUSG00000043943
AA Change: E313V

Domain	Start	End	E-Value	Type
transmembrane domain	47	69	N/A	INTRINSIC
Pfam:PA	193	291	3.5e-14	PFAM
Pfam:Peptidase_M28	398	592	1.2e-17	PFAM
Pfam:TFR_dimer	654	777	6.4e-42	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550L24Rik	G	A	X: 58,918,937	V19I	probably benign	Het
4932414N04Rik	T	A	2: 68,731,083	D251E	probably benign	Het
4932415D10Rik	T	C	10: 82,283,567		probably benign	Het
5730460C07Rik	C	T	3: 153,789,958		noncoding transcript	Het
Coch	G	A	12: 51,603,206	R326Q	probably benign	Het
Cpa3	A	G	3: 20,215,962	V366A	probably benign	Het
Csf1r	C	T	18: 61,117,108	Q382*	probably null	Het
Csta1	C	A	16: 36,131,041	G4*	probably null	Het
Cts7	T	C	13: 61,356,603	R49G	probably damaging	Het
Dlg5	A	G	14: 24,170,454	V575A	probably benign	Het
Ero1l	G	T	14: 45,294,533	N227K	probably benign	Het
Faap24	G	T	7: 35,395,309	C58*	probably null	Het
Gm13089	G	A	4: 143,697,088	T377I	possibly damaging	Het
Hfm1	G	A	5: 106,911,575	Q194*	probably null	Het
Hs3st5	T	A	10: 36,833,323	Y285N	probably damaging	Het
Hyal6	G	A	6: 24,743,429	G375R	probably damaging	Het
Itgb5	T	C	16: 33,910,552	S93P	probably benign	Het
Kcnj6	A	T	16: 94,832,583	M205K	probably damaging	Het
Kdm6a	C	T	X: 18,247,104	Q92*	probably null	Het
Klhl38	A	G	15: 58,323,330	M1T	probably null	Het
Krtap7-1	T	C	16: 89,507,996		probably benign	Het
L1cam	T	C	X: 73,863,028	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,016	N45S	probably benign	Het
Mmp2	A	G	8: 92,839,342	I424V	probably benign	Het
Myh8	A	G	11: 67,303,913	Q1650R	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652	M368I	probably benign	Het
Nupl1	T	C	14: 60,228,775	T445A	probably benign	Het
Olfr294	A	G	7: 86,615,677	Y323H	possibly damaging	Het
Olfr582	A	G	7: 103,042,130	D212G	probably damaging	Het
Pkp3	A	G	7: 141,082,693	T73A	probably benign	Het
Pole	A	G	5: 110,301,998		probably benign	Het
Ppp2r3a	C	T	9: 101,211,192	G644D	probably benign	Het
Ptprb	T	C	10: 116,339,582	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,437,943	K264N	probably damaging	Het
Rasal2	T	C	1: 157,192,741		probably benign	Het
Serpina6	A	T	12: 103,646,913	I376N	probably damaging	Het
Setx	T	G	2: 29,161,799	I2062M	probably benign	Het
Slc9c1	A	G	16: 45,543,168	D99G	probably benign	Het
Taok1	A	G	11: 77,560,328	Y309H	probably damaging	Het
Trappc10	T	C	10: 78,188,761	D1178G	probably damaging	Het
Trav5-1	G	A	14: 52,622,845	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,314,837	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,307,750	S152C	probably damaging	Het
Washc5	C	A	15: 59,363,350		probably benign	Het
Zfp369	T	G	13: 65,296,153	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,513,347	Y234C	probably damaging	Het

Other mutations in Naalad2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01337:Naalad2	APN	9	18327373	missense	probably damaging	0.97
IGL02160:Naalad2	APN	9	18379937	missense	probably damaging	1.00
IGL03246:Naalad2	APN	9	18385099	missense	possibly damaging	0.92
ithaca	UTSW	9	18378699	missense	probably damaging	1.00
odysseus	UTSW	9	18376533	missense	possibly damaging	0.63
R0112:Naalad2	UTSW	9	18351447	nonsense	probably null
R0266:Naalad2	UTSW	9	18350943	splice site	probably benign
R0505:Naalad2	UTSW	9	18385895	missense	probably benign
R1077:Naalad2	UTSW	9	18347506	missense	probably damaging	1.00
R1442:Naalad2	UTSW	9	18351032	splice site	probably benign
R1553:Naalad2	UTSW	9	18378669	missense	probably benign	0.01
R1694:Naalad2	UTSW	9	18327387	missense	probably damaging	0.96
R1912:Naalad2	UTSW	9	18376535	missense	probably benign	0.00
R1976:Naalad2	UTSW	9	18378699	missense	probably damaging	1.00
R2224:Naalad2	UTSW	9	18376533	missense	possibly damaging	0.63
R2225:Naalad2	UTSW	9	18376533	missense	possibly damaging	0.63
R2227:Naalad2	UTSW	9	18376533	missense	possibly damaging	0.63
R2287:Naalad2	UTSW	9	18335021	splice site	probably null
R4126:Naalad2	UTSW	9	18347470	missense	probably damaging	1.00
R4784:Naalad2	UTSW	9	18350918	missense	probably damaging	1.00
R5426:Naalad2	UTSW	9	18347519	missense	probably benign	0.11
R5470:Naalad2	UTSW	9	18330851	missense	probably damaging	1.00
R5644:Naalad2	UTSW	9	18334931	missense	possibly damaging	0.90
R5888:Naalad2	UTSW	9	18330641	missense	probably benign	0.34
R6194:Naalad2	UTSW	9	18351147	missense	probably benign	0.23
R6238:Naalad2	UTSW	9	18385065	missense	probably damaging	1.00
R6701:Naalad2	UTSW	9	18385148	missense	probably null	0.05
R6764:Naalad2	UTSW	9	18402889	start gained	probably benign
R6791:Naalad2	UTSW	9	18385130	missense	possibly damaging	0.67
R7133:Naalad2	UTSW	9	18327377	missense	probably benign	0.00
R7137:Naalad2	UTSW	9	18323487	missense	probably benign	0.00
R7212:Naalad2	UTSW	9	18364041	splice site	probably null
R7588:Naalad2	UTSW	9	18351479	missense	probably damaging	0.99
R8024:Naalad2	UTSW	9	18397473	splice site	probably benign
R8409:Naalad2	UTSW	9	18330838	missense	probably damaging	1.00
R8413:Naalad2	UTSW	9	18330643	missense	probably damaging	0.99
R8703:Naalad2	UTSW	9	18378712	missense	probably damaging	1.00
R8979:Naalad2	UTSW	9	18330850	missense	probably damaging	1.00
R9178:Naalad2	UTSW	9	18330856	missense	probably damaging	0.99
R9256:Naalad2	UTSW	9	18363238	missense	probably benign	0.06
Z1177:Naalad2	UTSW	9	18351102	missense	probably damaging	1.00
Z1186:Naalad2	UTSW	9	18385814	missense	possibly damaging	0.69

Posted On

2016-08-02