Incidental Mutation 'R7588:Naalad2'
ID 587265
Institutional Source Beutler Lab
Gene Symbol Naalad2
Ensembl Gene ENSMUSG00000043943
Gene Name N-acetylated alpha-linked acidic dipeptidase 2
Synonyms D9Ertd285e, NAALADASE2, GCPIII, GCP3, Folh1b, NAADALASE2
MMRRC Submission 045636-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.306) question?
Stock # R7588 (G1)
Quality Score 188.009
Status Not validated
Chromosome 9
Chromosomal Location 18233247-18308834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 18262775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 374 (V374F)
Ref Sequence ENSEMBL: ENSMUSP00000001826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001826] [ENSMUST00000166825] [ENSMUST00000172171]
AlphaFold Q9CZR2
Predicted Effect probably damaging
Transcript: ENSMUST00000001826
AA Change: V374F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001826
Gene: ENSMUSG00000043943
AA Change: V374F

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000166825
AA Change: V336F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128674
Gene: ENSMUSG00000043943
AA Change: V336F

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000172171
AA Change: V374F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130752
Gene: ENSMUSG00000043943
AA Change: V374F

DomainStartEndE-ValueType
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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 T A 11: 83,215,348 (GRCm39) D97E probably benign Het
Apbb1 G T 7: 105,223,173 (GRCm39) P146Q probably benign Het
Aste1 T A 9: 105,274,590 (GRCm39) S277T possibly damaging Het
Bnip5 T C 17: 29,124,430 (GRCm39) K291E probably benign Het
Cdk15 A G 1: 59,383,458 (GRCm39) D415G possibly damaging Het
Cep152 T A 2: 125,411,546 (GRCm39) E1256D probably damaging Het
Chd7 A G 4: 8,864,039 (GRCm39) N2643S probably damaging Het
Copg2 A G 6: 30,788,526 (GRCm39) probably null Het
D130043K22Rik T A 13: 25,071,876 (GRCm39) I940N probably damaging Het
Dnmt3a A G 12: 3,946,080 (GRCm39) T312A possibly damaging Het
Dock5 A G 14: 68,000,607 (GRCm39) probably null Het
Fam83g A T 11: 61,575,522 (GRCm39) I55F probably damaging Het
Fanci T C 7: 79,084,017 (GRCm39) F780L possibly damaging Het
Fhod3 G T 18: 25,223,305 (GRCm39) A884S probably benign Het
Gas6 T C 8: 13,516,711 (GRCm39) S596G probably benign Het
Gns T C 10: 121,226,563 (GRCm39) V404A probably benign Het
Gpatch1 T C 7: 34,991,173 (GRCm39) N624D probably damaging Het
Hmcn1 T C 1: 150,532,885 (GRCm39) I3099M possibly damaging Het
Itga1 A T 13: 115,104,785 (GRCm39) S1080R possibly damaging Het
Kcnk15 T C 2: 163,700,226 (GRCm39) V155A probably damaging Het
Luzp2 T A 7: 54,724,838 (GRCm39) probably null Het
Mapk8ip1 T A 2: 92,216,984 (GRCm39) D446V possibly damaging Het
Med1 T C 11: 98,046,398 (GRCm39) E1466G unknown Het
Mug1 A G 6: 121,852,476 (GRCm39) R855G probably damaging Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nlrp5 A G 7: 23,107,576 (GRCm39) E83G probably benign Het
Nod2 T C 8: 89,401,536 (GRCm39) F901S possibly damaging Het
Nps T C 7: 134,870,508 (GRCm39) V10A probably benign Het
Pbrm1 T A 14: 30,806,900 (GRCm39) V1109E probably damaging Het
Pcdh7 A G 5: 57,877,246 (GRCm39) D267G probably damaging Het
Pfkp A G 13: 6,698,673 (GRCm39) Y15H possibly damaging Het
Pgap6 T C 17: 26,341,017 (GRCm39) Y176H probably damaging Het
Ppm1b T C 17: 85,320,997 (GRCm39) S380P probably benign Het
Psg21 T C 7: 18,381,134 (GRCm39) N470D probably benign Het
Qrich2 T C 11: 116,356,763 (GRCm39) N29D possibly damaging Het
Reln T C 5: 22,090,566 (GRCm39) T3431A probably benign Het
Rfc1 A G 5: 65,429,850 (GRCm39) V852A probably damaging Het
Rttn T G 18: 89,082,353 (GRCm39) D1426E probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Styxl1 G A 5: 135,799,130 (GRCm39) P28L probably damaging Het
Tcl1b4 A G 12: 105,168,641 (GRCm39) probably benign Het
Trav17 A G 14: 54,044,302 (GRCm39) D24G probably benign Het
Trim28 A C 7: 12,763,347 (GRCm39) D496A probably damaging Het
Trim29 T C 9: 43,246,425 (GRCm39) Y574H probably damaging Het
Trip12 G T 1: 84,738,604 (GRCm39) F750L probably damaging Het
Ubr3 C A 2: 69,801,513 (GRCm39) T1007K probably damaging Het
Zzz3 A G 3: 152,128,405 (GRCm39) Y7C possibly damaging Het
Other mutations in Naalad2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Naalad2 APN 9 18,238,669 (GRCm39) missense probably damaging 0.97
IGL02160:Naalad2 APN 9 18,291,233 (GRCm39) missense probably damaging 1.00
IGL03246:Naalad2 APN 9 18,296,395 (GRCm39) missense possibly damaging 0.92
IGL03351:Naalad2 APN 9 18,275,483 (GRCm39) missense possibly damaging 0.57
ithaca UTSW 9 18,289,995 (GRCm39) missense probably damaging 1.00
odysseus UTSW 9 18,287,829 (GRCm39) missense possibly damaging 0.63
R0112:Naalad2 UTSW 9 18,262,743 (GRCm39) nonsense probably null
R0266:Naalad2 UTSW 9 18,262,239 (GRCm39) splice site probably benign
R0505:Naalad2 UTSW 9 18,297,191 (GRCm39) missense probably benign
R1077:Naalad2 UTSW 9 18,258,802 (GRCm39) missense probably damaging 1.00
R1442:Naalad2 UTSW 9 18,262,328 (GRCm39) splice site probably benign
R1553:Naalad2 UTSW 9 18,289,965 (GRCm39) missense probably benign 0.01
R1694:Naalad2 UTSW 9 18,238,683 (GRCm39) missense probably damaging 0.96
R1912:Naalad2 UTSW 9 18,287,831 (GRCm39) missense probably benign 0.00
R1976:Naalad2 UTSW 9 18,289,995 (GRCm39) missense probably damaging 1.00
R2224:Naalad2 UTSW 9 18,287,829 (GRCm39) missense possibly damaging 0.63
R2225:Naalad2 UTSW 9 18,287,829 (GRCm39) missense possibly damaging 0.63
R2227:Naalad2 UTSW 9 18,287,829 (GRCm39) missense possibly damaging 0.63
R2287:Naalad2 UTSW 9 18,246,317 (GRCm39) splice site probably null
R4126:Naalad2 UTSW 9 18,258,766 (GRCm39) missense probably damaging 1.00
R4784:Naalad2 UTSW 9 18,262,214 (GRCm39) missense probably damaging 1.00
R5426:Naalad2 UTSW 9 18,258,815 (GRCm39) missense probably benign 0.11
R5470:Naalad2 UTSW 9 18,242,147 (GRCm39) missense probably damaging 1.00
R5644:Naalad2 UTSW 9 18,246,227 (GRCm39) missense possibly damaging 0.90
R5888:Naalad2 UTSW 9 18,241,937 (GRCm39) missense probably benign 0.34
R6194:Naalad2 UTSW 9 18,262,443 (GRCm39) missense probably benign 0.23
R6238:Naalad2 UTSW 9 18,296,361 (GRCm39) missense probably damaging 1.00
R6701:Naalad2 UTSW 9 18,296,444 (GRCm39) missense probably null 0.05
R6764:Naalad2 UTSW 9 18,314,185 (GRCm39) start gained probably benign
R6791:Naalad2 UTSW 9 18,296,426 (GRCm39) missense possibly damaging 0.67
R7133:Naalad2 UTSW 9 18,238,673 (GRCm39) missense probably benign 0.00
R7137:Naalad2 UTSW 9 18,234,783 (GRCm39) missense probably benign 0.00
R7212:Naalad2 UTSW 9 18,275,337 (GRCm39) splice site probably null
R8024:Naalad2 UTSW 9 18,308,769 (GRCm39) splice site probably benign
R8409:Naalad2 UTSW 9 18,242,134 (GRCm39) missense probably damaging 1.00
R8413:Naalad2 UTSW 9 18,241,939 (GRCm39) missense probably damaging 0.99
R8703:Naalad2 UTSW 9 18,290,008 (GRCm39) missense probably damaging 1.00
R8810:Naalad2 UTSW 9 18,297,230 (GRCm39) splice site probably benign
R8979:Naalad2 UTSW 9 18,242,146 (GRCm39) missense probably damaging 1.00
R9178:Naalad2 UTSW 9 18,242,152 (GRCm39) missense probably damaging 0.99
R9256:Naalad2 UTSW 9 18,274,534 (GRCm39) missense probably benign 0.06
Z1177:Naalad2 UTSW 9 18,262,398 (GRCm39) missense probably damaging 1.00
Z1186:Naalad2 UTSW 9 18,297,110 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- GAATTTCAGTGTCAAGTCAGCC -3'
(R):5'- AAGTTGGCTTTCAGGTACATGC -3'

Sequencing Primer
(F):5'- TCAGTGTCAAGTCAGCCAAAATAG -3'
(R):5'- GGCTTTCAGGTACATGCATAAATCC -3'
Posted On 2019-10-24