Incidental Mutation 'R1077:Naalad2'
ID 85688
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 039163-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.306) question?
Stock # R1077 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 18233247-18308834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18258802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 491 (R491Q)
Ref Sequence ENSEMBL: ENSMUSP00000130752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001826] [ENSMUST00000166825] [ENSMUST00000172171]
AlphaFold Q9CZR2
Predicted Effect probably damaging
Transcript: ENSMUST00000001826
AA Change: R491Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001826
Gene: ENSMUSG00000043943
AA Change: R491Q

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: R453Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128674
Gene: ENSMUSG00000043943
AA Change: R453Q

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: R491Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130752
Gene: ENSMUSG00000043943
AA Change: R491Q

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 100% (40/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik T C 9: 114,130,770 (GRCm39) noncoding transcript Het
Apob A G 12: 8,056,017 (GRCm39) K1500E probably benign Het
Atp8b1 A T 18: 64,706,333 (GRCm39) Y225* probably null Het
Cdc25c A T 18: 34,882,026 (GRCm39) probably benign Het
Ceacam15 T C 7: 16,406,000 (GRCm39) N184D probably benign Het
Cntln T C 4: 84,914,716 (GRCm39) S508P probably damaging Het
Defa41 T A 8: 21,692,449 (GRCm39) F90Y probably benign Het
Dhx34 A G 7: 15,952,293 (GRCm39) S111P probably damaging Het
Dst A G 1: 34,203,248 (GRCm39) E759G probably damaging Het
Fis1 G A 5: 136,994,000 (GRCm39) A28T probably damaging Het
Fsd1 T C 17: 56,297,542 (GRCm39) probably null Het
Grk6 T C 13: 55,602,340 (GRCm39) probably null Het
Il23r A T 6: 67,450,794 (GRCm39) H228Q probably benign Het
Kcnh4 C T 11: 100,643,164 (GRCm39) V368I possibly damaging Het
Kdr T C 5: 76,116,891 (GRCm39) E728G probably damaging Het
Krt33a T A 11: 99,906,763 (GRCm39) M71L probably benign Het
Lrrc7 T G 3: 157,866,780 (GRCm39) D987A probably damaging Het
Nedd4l A T 18: 65,300,570 (GRCm39) probably benign Het
Pramel7 A G 2: 87,321,534 (GRCm39) L167S probably damaging Het
Prkci A G 3: 31,104,341 (GRCm39) D568G probably damaging Het
Psg18 G A 7: 18,085,000 (GRCm39) T32I possibly damaging Het
Ric8b T A 10: 84,806,581 (GRCm39) probably benign Het
Rnf213 T C 11: 119,376,824 (GRCm39) probably benign Het
Rttn T C 18: 89,082,373 (GRCm39) V1433A probably damaging Het
Sbf2 A T 7: 109,966,379 (GRCm39) probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sfta2 T C 17: 35,961,019 (GRCm39) probably benign Het
Slc17a1 T A 13: 24,062,433 (GRCm39) probably benign Het
Slc6a21 G A 7: 44,937,626 (GRCm39) C314Y probably benign Het
Smpd4 T C 16: 17,441,833 (GRCm39) V35A probably damaging Het
Sorl1 T C 9: 41,925,786 (GRCm39) D1182G probably damaging Het
Syne2 A G 12: 76,088,809 (GRCm39) I5056V possibly damaging Het
Tex14 T C 11: 87,410,571 (GRCm39) probably benign Het
Tex44 A G 1: 86,354,777 (GRCm39) T229A probably benign Het
Tfap2b T A 1: 19,304,373 (GRCm39) C394* probably null Het
Ttk T A 9: 83,726,202 (GRCm39) probably benign Het
Vmn2r26 G A 6: 124,030,872 (GRCm39) V536I probably benign Het
Wac A G 18: 7,921,916 (GRCm39) T553A probably damaging Het
Wdcp T A 12: 4,900,685 (GRCm39) H180Q probably damaging Het
Wdr33 A G 18: 31,968,514 (GRCm39) H235R probably benign 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
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
R7588:Naalad2 UTSW 9 18,262,775 (GRCm39) missense probably damaging 0.99
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'- AGGTTTCTGTGTAATCACCAGTGGC -3'
(R):5'- GACACTGTCCCCTGAGAAGTGTTG -3'

Sequencing Primer
(F):5'- GTAATCACCAGTGGCAGATAGTCTC -3'
(R):5'- CCCTGAGAAGTGTTGCTACAAG -3'
Posted On 2013-11-18