Mutagenetix > Incidental Mutations

Incidental Mutation 'R0112:Naalad2'

20515

Institutional Source

Beutler Lab

Gene Symbol

Naalad2

Ensembl Gene

ENSMUSG00000043943

Gene Name

N-acetylated alpha-linked acidic dipeptidase 2

Synonyms

NAADALASE2, GCP3, NAALADASE2, Folh1b, GCPIII, D9Ertd285e

MMRRC Submission

038398-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.438) question?

Stock #

R0112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18321951-18402995 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 18351447 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 384 (Y384*)

Ref Sequence

ENSEMBL: ENSMUSP00000130752 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000001826
AA Change: Y384*

SMART Domains

Protein: ENSMUSP00000001826
Gene: ENSMUSG00000043943
AA Change: Y384*

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 null
Transcript: ENSMUST00000166825
AA Change: Y346*

SMART Domains

Protein: ENSMUSP00000128674
Gene: ENSMUSG00000043943
AA Change: Y346*

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

probably null
Transcript: ENSMUST00000172171
AA Change: Y384*

SMART Domains

Protein: ENSMUSP00000130752
Gene: ENSMUSG00000043943
AA Change: Y384*

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

Meta Mutation Damage Score

0.9701

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (86/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,354,803	Y179F	probably benign	Het
Abcd4	A	G	12: 84,612,899		probably benign	Het
Abhd12b	C	T	12: 70,181,017	T191M	probably benign	Het
Adcy5	A	G	16: 35,156,178	E27G	possibly damaging	Het
Adgb	G	A	10: 10,407,158		probably benign	Het
Afdn	T	C	17: 13,884,637	S1186P	probably damaging	Het
Atf6b	G	T	17: 34,651,626	R351L	probably damaging	Het
Axin2	T	C	11: 108,939,397	S348P	possibly damaging	Het
BC030499	T	C	11: 78,291,681		probably benign	Het
Bfsp1	A	C	2: 143,827,643		probably null	Het
Brd1	A	G	15: 88,730,383	V103A	probably benign	Het
Ccdc13	C	A	9: 121,813,481	K392N	probably damaging	Het
Ccdc18	A	G	5: 108,173,761	K577R	probably damaging	Het
Csmd2	G	T	4: 128,496,029	G2186C	probably damaging	Het
Cyp2j5	A	T	4: 96,629,523	M484K	probably benign	Het
Defb3	T	A	8: 19,293,407	L12Q	probably null	Het
Defb7	G	T	8: 19,495,170		probably null	Het
Dhx35	T	A	2: 158,840,620	M491K	probably damaging	Het
Dnah17	T	C	11: 118,074,434	S2261G	possibly damaging	Het
Dnah5	A	C	15: 28,263,679	E853D	probably benign	Het
Dner	C	A	1: 84,583,053	A23S	probably benign	Het
Dock5	A	C	14: 67,819,641	S539A	probably benign	Het
Dsg2	T	A	18: 20,583,042	F317I	probably benign	Het
Enox1	A	T	14: 77,699,198	I539F	possibly damaging	Het
Eogt	G	A	6: 97,135,284		probably benign	Het
Fbxo22	A	G	9: 55,223,346	T300A	probably benign	Het
Fes	T	C	7: 80,384,005	D166G	probably damaging	Het
Fn1	A	G	1: 71,609,653	S1366P	probably damaging	Het
Fndc3a	A	T	14: 72,540,495		probably benign	Het
Foxh1	T	C	15: 76,669,010	H168R	probably benign	Het
Galnt14	T	G	17: 73,574,984		probably benign	Het
Gdf6	A	G	4: 9,844,482	D2G	probably damaging	Het
Gp6	C	A	7: 4,370,184	A247S	probably benign	Het
Gp6	G	C	7: 4,371,627	P232A	probably benign	Het
Grin2c	A	G	11: 115,251,134	Y820H	probably damaging	Het
Gtf2h4	T	C	17: 35,670,448	T198A	possibly damaging	Het
Helz	T	C	11: 107,672,948		probably benign	Het
Htr1d	A	G	4: 136,443,000	E180G	probably benign	Het
Igsf10	A	G	3: 59,326,008	V1768A	probably benign	Het
Ints10	A	T	8: 68,827,302	T694S	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lipc	T	A	9: 70,820,427	Y131F	probably damaging	Het
Litaf	G	T	16: 10,966,511	T45K	probably damaging	Het
Lmo7	A	T	14: 101,887,193	R363*	probably null	Het
Lrrc37a	A	T	11: 103,500,913	Y1229N	probably benign	Het
Man2a2	C	T	7: 80,358,276	A943T	probably damaging	Het
Mtor	A	G	4: 148,480,923	Y1030C	probably damaging	Het
Nat2	C	T	8: 67,501,726	Q163*	probably null	Het
Nell2	A	G	15: 95,431,681		probably benign	Het
Nphp3	C	T	9: 104,037,348	H102Y	possibly damaging	Het
Olfr1383	A	T	11: 49,524,134	H137L	possibly damaging	Het
Olfr1442	C	T	19: 12,674,757	T184I	probably benign	Het
Olfr686	A	T	7: 105,203,659	M228K	probably benign	Het
Olr1	T	C	6: 129,488,906	S46G	possibly damaging	Het
Parg	C	A	14: 32,202,433	A63E	probably damaging	Het
Pik3cg	A	G	12: 32,195,715		probably benign	Het
Ripk4	A	G	16: 97,743,561	C629R	probably benign	Het
Rnf145	A	G	11: 44,564,151	T620A	probably benign	Het
Samd9l	T	G	6: 3,376,031	D410A	possibly damaging	Het
Serpinb9f	A	T	13: 33,327,951		probably benign	Het
Slc19a1	T	C	10: 77,042,165	I178T	probably benign	Het
Slco1b2	A	T	6: 141,671,111	Y390F	probably benign	Het
Speg	A	G	1: 75,385,032	E230G	possibly damaging	Het
Tbc1d9	C	A	8: 83,264,837		probably benign	Het
Tmem131l	G	A	3: 83,940,587	Q324*	probably null	Het
Trf	A	G	9: 103,226,956		probably benign	Het
Trp53	T	G	11: 69,588,679	Y202D	probably damaging	Het
Trpv1	T	A	11: 73,253,272	M618K	probably damaging	Het
Trrap	C	A	5: 144,822,761	Y2250*	probably null	Het
Ttc3	A	G	16: 94,385,322		probably benign	Het
Ubtfl1	T	G	9: 18,409,787	S204A	probably benign	Het
Uck2	A	T	1: 167,227,771	Y203N	probably damaging	Het
Utrn	A	T	10: 12,686,465	L1280*	probably null	Het
Vmn1r178	A	T	7: 23,894,184	H146L	possibly damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r108	T	C	17: 20,471,635	M209V	probably benign	Het
Vmn2r9	G	A	5: 108,843,125	T790I	probably damaging	Het
Vmn2r94	C	A	17: 18,243,604	R808L	probably benign	Het
Zbtb7c	A	T	18: 76,136,891	S17C	probably damaging	Het
Zfp811	C	T	17: 32,797,764	R434Q	probably damaging	Het
Zkscan6	A	T	11: 65,814,863		probably benign	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
IGL03351:Naalad2	APN	9	18364187	missense	possibly damaging	0.57
ithaca	UTSW	9	18378699	missense	probably damaging	1.00
odysseus	UTSW	9	18376533	missense	possibly damaging	0.63
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
Z1177:Naalad2	UTSW	9	18351102	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATCTCTTGCAAAACTGCTGTCCC -3'
(R):5'- ACAACACACTGTCACTCCTGTGAAG -3'

Sequencing Primer
(F):5'- TCCGAGAATGACATACCTGTCTG -3'
(R):5'- GCAATGTAAGTGTCTCAAATAGCCC -3'

Posted On

2013-04-11