Mutagenetix > Incidental Mutation

Incidental Mutation 'R5888:Naalad2'

457803

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

044089-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.437) question?

Stock #

R5888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18321951-18402995 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18330641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 656 (S656T)

Ref Sequence

ENSEMBL: ENSMUSP00000130752 (fasta)

Gene Model

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

AlphaFold

Q9CZR2

Predicted Effect

probably benign
Transcript: ENSMUST00000001826
AA Change: S656T

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000001826
Gene: ENSMUSG00000043943
AA Change: S656T

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: S618T

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128674
Gene: ENSMUSG00000043943
AA Change: S618T

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 benign
Transcript: ENSMUST00000172171
AA Change: S656T

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130752
Gene: ENSMUSG00000043943
AA Change: S656T

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

0.1007

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

94% (96/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	C	15: 81,980,671	S38P	probably benign	Het
Adcy1	T	A	11: 7,139,095	V503E	possibly damaging	Het
Alk	C	A	17: 71,874,943	V1362L	probably damaging	Het
Ankrd55	T	A	13: 112,355,919	I208N	possibly damaging	Het
Asap2	T	A	12: 21,218,190	I319N	probably damaging	Het
Atp11b	T	C	3: 35,837,547	I1036T	probably benign	Het
B4gat1	T	C	19: 5,039,532	F186L	probably benign	Het
C3	T	A	17: 57,214,831	T1079S	probably damaging	Het
Cacul1	G	T	19: 60,537,464	T287K	possibly damaging	Het
Cbr3	G	C	16: 93,690,726	G266R	probably damaging	Het
Cd63	T	A	10: 128,912,291		probably null	Het
Chd7	G	A	4: 8,866,382	M851I	probably damaging	Het
Chst13	T	A	6: 90,309,572	H136L	probably benign	Het
Cyp2d22	T	C	15: 82,373,813	T179A	probably benign	Het
Dclre1b	A	T	3: 103,803,737	V286E	probably damaging	Het
Defb45	G	A	2: 152,593,234		probably benign	Het
Dlg1	T	C	16: 31,791,886		probably null	Het
Dock3	A	G	9: 107,023,803	V321A	probably benign	Het
Dytn	A	T	1: 63,677,237	V59E	possibly damaging	Het
Eif2ak1	A	G	5: 143,886,915	I393M	probably damaging	Het
Fam83g	A	T	11: 61,702,594	E318V	probably benign	Het
Fbxo34	T	A	14: 47,529,719	F179I	probably damaging	Het
Fmo5	T	A	3: 97,641,725	Y230N	probably benign	Het
Fzd9	T	G	5: 135,249,463		probably null	Het
Gata2	T	C	6: 88,200,740	S251P	probably benign	Het
Gigyf1	A	G	5: 137,525,697	D1043G	probably damaging	Het
Gm10260	G	A	13: 97,760,393	R66*	probably null	Het
Gm10322	T	A	10: 59,616,303	S81T	probably benign	Het
Gm11639	T	C	11: 104,721,401		probably benign	Het
Gm15517	A	T	7: 44,260,642		probably benign	Het
Haus4	T	C	14: 54,544,219	T232A	probably benign	Het
Hgfac	A	T	5: 35,045,407	H417L	probably damaging	Het
Iqgap2	T	C	13: 95,635,610	K1354E	possibly damaging	Het
Kcnk12	C	A	17: 87,746,649	R195L	probably benign	Het
Kcnn2	A	T	18: 45,592,345	I303F	probably damaging	Het
Kcnt1	T	C	2: 25,908,110	F879S	probably damaging	Het
Kndc1	T	C	7: 139,895,217	F11L	probably benign	Het
Kpna7	A	G	5: 144,989,795	F449S	probably damaging	Het
Krt77	G	T	15: 101,865,453	N255K	probably benign	Het
Lair1	A	T	7: 4,010,845	D134E	probably damaging	Het
Loxhd1	T	C	18: 77,402,515	V1318A	probably damaging	Het
March10	A	T	11: 105,402,146	V145D	possibly damaging	Het
Mcpt1	T	A	14: 56,019,512	M169K	probably benign	Het
Mdc1	T	A	17: 35,847,820	V364E	probably benign	Het
Mfsd11	T	C	11: 116,871,384	F270S	probably damaging	Het
Mfsd4b2	T	G	10: 39,922,035	D108A	probably benign	Het
Mink1	A	T	11: 70,610,059		probably benign	Het
Mmp25	T	C	17: 23,631,074	Y504C	probably damaging	Het
Ms4a13	C	T	19: 11,191,506	V52I	probably benign	Het
Msh4	C	T	3: 153,867,723		probably null	Het
Muc5b	T	G	7: 141,858,421	S1701R	unknown	Het
Ncapd2	T	C	6: 125,187,089	Y64C	probably damaging	Het
Ncapg2	T	A	12: 116,425,800	S347T	possibly damaging	Het
Nipal4	T	C	11: 46,151,339	T172A	probably damaging	Het
Nrros	T	C	16: 32,143,087	K652R	probably benign	Het
Nrxn3	G	T	12: 89,512,085	A983S	possibly damaging	Het
Olfr1084	A	C	2: 86,639,144	L188R	probably damaging	Het
Olfr1187-ps1	T	C	2: 88,540,244		noncoding transcript	Het
Olfr1220	T	A	2: 89,097,925	M1L	probably damaging	Het
Olfr1249	T	A	2: 89,630,799	Y33F	probably damaging	Het
Olfr1283	T	C	2: 111,368,743	M37T	probably benign	Het
Olfr631	A	G	7: 103,929,032	T70A	possibly damaging	Het
Olfr938	A	T	9: 39,077,967	Y259*	probably null	Het
P2rx4	T	A	5: 122,719,165	S155T	probably benign	Het
P2rx4	T	G	5: 122,727,208	Y299D	probably damaging	Het
Pcsk6	A	T	7: 66,043,624	L7F	probably null	Het
Pdss2	T	C	10: 43,221,797		silent	Het
Pfkl	A	G	10: 77,991,370	V494A	possibly damaging	Het
Prep	G	T	10: 45,067,364	D12Y	possibly damaging	Het
Prg4	A	G	1: 150,452,350	F188S	probably damaging	Het
Ripor3	T	C	2: 167,997,287	Y98C	probably damaging	Het
Rnf216	T	A	5: 143,068,314		probably null	Het
Rnf24	A	G	2: 131,322,245		probably benign	Het
Scn3a	A	G	2: 65,497,398	M916T	probably benign	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Sh2b3	C	G	5: 121,829,021	R10P	possibly damaging	Het
Slc25a27	T	C	17: 43,649,694	D211G	probably damaging	Het
Slc36a4	A	T	9: 15,727,028	Y250F	probably damaging	Het
Slc4a1	T	A	11: 102,356,525	E448V	probably damaging	Het
Slit1	C	A	19: 41,743,296	C38F	probably damaging	Het
Spock3	T	A	8: 63,355,300	N410K	unknown	Het
Supt20	G	T	3: 54,712,207	W370L	probably benign	Het
Tas2r139	T	A	6: 42,141,496	N187K	probably damaging	Het
Tbc1d9b	G	A	11: 50,140,484	V111I	probably benign	Het
Thsd7b	T	A	1: 130,210,320	Y1578*	probably null	Het
Tln2	T	A	9: 67,229,403	I1267F	probably damaging	Het
Tnk2	G	A	16: 32,671,367	V363I	probably damaging	Het
Ttc32	A	G	12: 9,035,870	K139R	possibly damaging	Het
Vmn1r30	G	C	6: 58,435,565	T94S	possibly damaging	Het
Vmn1r90	G	A	7: 14,561,855	T106I	probably damaging	Het
Zfp677	T	A	17: 21,398,258	C526S	probably damaging	Het
Zfp831	T	G	2: 174,643,627	S32A	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
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
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
R8810:Naalad2	UTSW	9	18385934	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- GCCAGAGAGACTCTTCTTTTCC -3'
(R):5'- AGTACAGAACTTTTATGACCCCAC -3'

Sequencing Primer
(F):5'- AAGTAGCTTGTGATCCTTCTGC -3'
(R):5'- CCACATTTAAAAAGCAACTGTCTGTG -3'

Posted On

2017-02-15