Incidental Mutation 'R0505:Naalad2'
ID 47484
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 038700-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.306) question?
Stock # R0505 (G1)
Quality Score 144
Status Validated
Chromosome 9
Chromosomal Location 18233247-18308834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18297191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 32 (Y32H)
Ref Sequence ENSEMBL: ENSMUSP00000130752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001826] [ENSMUST00000101453] [ENSMUST00000164081] [ENSMUST00000166825] [ENSMUST00000172116] [ENSMUST00000172171]
AlphaFold Q9CZR2
Predicted Effect probably benign
Transcript: ENSMUST00000001826
AA Change: Y32H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001826
Gene: ENSMUSG00000043943
AA Change: Y32H

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 benign
Transcript: ENSMUST00000101453
AA Change: Y32H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000164081
Predicted Effect probably benign
Transcript: ENSMUST00000166825
SMART Domains Protein: ENSMUSP00000128674
Gene: ENSMUSG00000043943

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 noncoding transcript
Transcript: ENSMUST00000168934
Predicted Effect probably benign
Transcript: ENSMUST00000172116
AA Change: Y32H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133157
Gene: ENSMUSG00000043943
AA Change: Y32H

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172171
AA Change: Y32H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130752
Gene: ENSMUSG00000043943
AA Change: Y32H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172200
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 98% (119/121)
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: 117 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,241,058 (GRCm39) Y974H probably benign Het
Abca2 G T 2: 25,324,906 (GRCm39) G300V probably benign Het
Abi1 A G 2: 22,852,516 (GRCm39) probably benign Het
Actr10 T A 12: 71,006,738 (GRCm39) Y332N probably damaging Het
Adam25 G T 8: 41,208,261 (GRCm39) C509F probably damaging Het
Adck1 A T 12: 88,338,461 (GRCm39) probably benign Het
Adgra3 A G 5: 50,166,676 (GRCm39) probably null Het
Adgrl1 G T 8: 84,661,279 (GRCm39) probably benign Het
Akr1c21 A G 13: 4,626,306 (GRCm39) Y110C probably damaging Het
Arhgef25 T C 10: 127,019,566 (GRCm39) I463V probably null Het
Atp6v1e2 C T 17: 87,252,006 (GRCm39) V131M probably benign Het
Bdnf A G 2: 109,505,688 (GRCm39) probably null Het
Bltp3b T C 10: 89,627,305 (GRCm39) S145P probably damaging Het
C7 A T 15: 5,023,624 (GRCm39) probably benign Het
Cdc27 T C 11: 104,419,114 (GRCm39) T273A probably benign Het
Cdo1 T A 18: 46,848,678 (GRCm39) I187F probably benign Het
Cep104 A T 4: 154,080,761 (GRCm39) T742S probably benign Het
Ckm A T 7: 19,153,377 (GRCm39) K223* probably null Het
Cmtr1 C T 17: 29,895,259 (GRCm39) P586L probably benign Het
Csmd1 C T 8: 16,042,758 (GRCm39) R2325Q probably damaging Het
Dcpp1 A T 17: 24,101,568 (GRCm39) I106L possibly damaging Het
Diaph3 A C 14: 87,328,400 (GRCm39) probably benign Het
Dnah11 A G 12: 118,070,245 (GRCm39) V1520A probably damaging Het
Dnajc25 T A 4: 59,020,438 (GRCm39) M168K Het
Dpp3 T C 19: 4,964,682 (GRCm39) N542D probably damaging Het
Ebf2 A T 14: 67,609,185 (GRCm39) K199* probably null Het
Eeig2 T C 3: 108,887,520 (GRCm39) E248G probably benign Het
Efcab11 T A 12: 99,685,294 (GRCm39) Q160L probably benign Het
Eif2ak4 T A 2: 118,261,517 (GRCm39) S686T probably benign Het
Epha6 C T 16: 60,026,095 (GRCm39) S449N possibly damaging Het
Ercc4 T C 16: 12,944,331 (GRCm39) V329A probably benign Het
Faf1 T C 4: 109,697,600 (GRCm39) F309L possibly damaging Het
G6pd2 C A 5: 61,966,910 (GRCm39) D228E probably benign Het
Ggt1 T G 10: 75,421,791 (GRCm39) V546G probably damaging Het
Gpatch4 G T 3: 87,958,524 (GRCm39) V3F probably damaging Het
Gprin3 A G 6: 59,330,372 (GRCm39) L645P probably damaging Het
Hyal2 A G 9: 107,449,270 (GRCm39) Y342C probably benign Het
Igf2bp2 A G 16: 21,907,849 (GRCm39) I16T possibly damaging Het
Inca1 T C 11: 70,581,025 (GRCm39) Y61C probably damaging Het
Ipo5 T C 14: 121,180,145 (GRCm39) W860R possibly damaging Het
Kcnj9 C T 1: 172,150,591 (GRCm39) A341T probably benign Het
Kdm5b T C 1: 134,530,309 (GRCm39) V440A probably damaging Het
L3mbtl1 C T 2: 162,789,255 (GRCm39) probably benign Het
Lin54 G A 5: 100,600,152 (GRCm39) T307I probably damaging Het
Lrrc18 C A 14: 32,731,096 (GRCm39) Q212K probably benign Het
Lrrc37a A G 11: 103,393,851 (GRCm39) S525P probably benign Het
Lrrc71 T A 3: 87,653,006 (GRCm39) S137C probably damaging Het
Lrrk1 A T 7: 65,940,656 (GRCm39) probably null Het
Man2b2 G A 5: 36,973,542 (GRCm39) S58L probably benign Het
Masp1 T A 16: 23,276,888 (GRCm39) H539L probably benign Het
Med1 G A 11: 98,047,730 (GRCm39) P1022L probably damaging Het
Meis1 T A 11: 18,961,360 (GRCm39) H171L probably damaging Het
Mier1 T A 4: 103,012,820 (GRCm39) probably benign Het
Mmp13 A T 9: 7,272,929 (GRCm39) R96S probably damaging Het
Mms19 G A 19: 41,942,173 (GRCm39) T38I probably damaging Het
Mrc1 G A 2: 14,314,843 (GRCm39) C976Y probably damaging Het
Mrtfb C T 16: 13,230,390 (GRCm39) T1025I possibly damaging Het
Ndufs1 A G 1: 63,183,085 (GRCm39) probably benign Het
Nefm C T 14: 68,361,608 (GRCm39) D219N probably damaging Het
Nwd1 C T 8: 73,388,965 (GRCm39) P172L probably damaging Het
Nwd2 T A 5: 63,962,454 (GRCm39) D679E probably damaging Het
Ogdh T A 11: 6,289,936 (GRCm39) probably benign Het
Olfm3 T A 3: 114,916,330 (GRCm39) S421T possibly damaging Het
Opn5 T G 17: 42,903,844 (GRCm39) T164P possibly damaging Het
Or4k37 A T 2: 111,159,673 (GRCm39) N303I probably benign Het
Or51a25 T A 7: 102,373,236 (GRCm39) I154F probably damaging Het
Or52a24 T C 7: 103,381,583 (GRCm39) V150A probably benign Het
Or5ak20 A G 2: 85,184,093 (GRCm39) M59T possibly damaging Het
Or5b12b T C 19: 12,861,443 (GRCm39) L66P probably damaging Het
Or5b12b A G 19: 12,861,910 (GRCm39) T222A probably damaging Het
Pde7b C T 10: 20,314,492 (GRCm39) V166M probably damaging Het
Peds1 A T 2: 167,486,907 (GRCm39) probably benign Het
Pik3ap1 T C 19: 41,313,003 (GRCm39) N370S probably damaging Het
Pkhd1l1 A T 15: 44,452,814 (GRCm39) D3913V probably damaging Het
Pld1 A G 3: 28,174,971 (GRCm39) I90V possibly damaging Het
Plxna2 A G 1: 194,326,656 (GRCm39) T197A possibly damaging Het
Plxna4 A T 6: 32,179,054 (GRCm39) M987K probably benign Het
Pmch A G 10: 87,927,221 (GRCm39) N75D probably benign Het
Prom2 T A 2: 127,374,787 (GRCm39) Q583L possibly damaging Het
Pyroxd1 T A 6: 142,299,288 (GRCm39) M148K possibly damaging Het
R3hdm2 C T 10: 127,293,569 (GRCm39) L158F probably damaging Het
Rapgef6 A T 11: 54,516,789 (GRCm39) T349S probably benign Het
Rfx5 C T 3: 94,863,666 (GRCm39) T105I probably damaging Het
Rif1 C A 2: 52,000,749 (GRCm39) P1401Q probably damaging Het
Robo3 G A 9: 37,328,055 (GRCm39) probably benign Het
Rpn1 T A 6: 88,067,224 (GRCm39) S195T probably benign Het
Rslcan18 C A 13: 67,250,183 (GRCm39) K17N probably benign Het
Rsph3b A T 17: 7,209,126 (GRCm39) I48N probably damaging Het
Sbf2 A T 7: 109,998,550 (GRCm39) Y628N probably damaging Het
Sis T C 3: 72,867,629 (GRCm39) T139A probably benign Het
Slc22a14 A G 9: 119,001,100 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Smarcb1 T C 10: 75,732,900 (GRCm39) T372A probably damaging Het
Spidr T A 16: 15,855,531 (GRCm39) H328L probably damaging Het
Sun5 T A 2: 153,712,872 (GRCm39) D16V probably damaging Het
Syde2 G A 3: 145,720,135 (GRCm39) E1053K possibly damaging Het
Syne2 T C 12: 76,146,238 (GRCm39) S6419P probably damaging Het
Tenm3 G A 8: 48,794,195 (GRCm39) probably benign Het
Timm44 C A 8: 4,310,532 (GRCm39) E407* probably null Het
Tnpo2 A G 8: 85,773,991 (GRCm39) T342A probably benign Het
Trio A G 15: 27,767,993 (GRCm39) C1964R probably benign Het
Trip11 A C 12: 101,851,931 (GRCm39) L711R probably damaging Het
Trp53bp1 A T 2: 121,100,450 (GRCm39) H101Q probably damaging Het
Trpm6 A G 19: 18,851,266 (GRCm39) probably benign Het
Ttn A T 2: 76,680,335 (GRCm39) probably benign Het
Ucp1 T A 8: 84,021,936 (GRCm39) M256K possibly damaging Het
Unc5a T A 13: 55,152,767 (GRCm39) S838T probably damaging Het
Uxs1 T C 1: 43,804,046 (GRCm39) probably null Het
Vmn2r108 A T 17: 20,683,096 (GRCm39) C703S possibly damaging Het
Zc3hav1 C T 6: 38,309,599 (GRCm39) G408R probably damaging Het
Zfp1004 T A 2: 150,035,000 (GRCm39) C471* probably null Het
Zfp609 G A 9: 65,610,744 (GRCm39) L740F possibly damaging Het
Zfp69 T C 4: 120,788,292 (GRCm39) E341G probably damaging Het
Zfp707 A T 15: 75,847,105 (GRCm39) H312L probably damaging Het
Zfp773 T C 7: 7,136,023 (GRCm39) D191G probably benign Het
Zgrf1 C A 3: 127,366,887 (GRCm39) D755E probably benign Het
Zscan5b T A 7: 6,242,074 (GRCm39) I431N probably 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
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
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'- TTTTGGGAACTCCTCCGAACACATC -3'
(R):5'- GTGTGAGCTTTGCAGTGAAAACACC -3'

Sequencing Primer
(F):5'- TCCGAACACATCCCAGCC -3'
(R):5'- GACAAAAGGCCCTGATTTCTG -3'
Posted On 2013-06-12