Incidental Mutation 'R8810:Naalad2'
ID 713496
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 068725-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.306) question?
Stock # R8810 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 18233247-18308834 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 18297230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000001826
Gene: ENSMUSG00000043943

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
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 probably benign
Transcript: ENSMUST00000172116
SMART Domains Protein: ENSMUSP00000133157
Gene: ENSMUSG00000043943

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172171
SMART Domains Protein: ENSMUSP00000130752
Gene: ENSMUSG00000043943

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: 99.9%
  • 20x: 99.6%
Validation Efficiency 99% (82/83)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,749,452 (GRCm39) S1408P probably damaging Het
Acap3 T C 4: 155,990,169 (GRCm39) V783A probably damaging Het
Akap8 T C 17: 32,525,504 (GRCm39) N525S probably damaging Het
Aqp1 C T 6: 55,313,606 (GRCm39) T44M probably damaging Het
Arap1 T C 7: 101,053,585 (GRCm39) Y1305H probably damaging Het
Atg2a T G 19: 6,300,651 (GRCm39) S743A probably benign Het
AW551984 G T 9: 39,511,307 (GRCm39) L133I probably damaging Het
Bahcc1 C A 11: 120,164,587 (GRCm39) P802T possibly damaging Het
Brd8 C A 18: 34,743,002 (GRCm39) V288L probably benign Het
Carmil2 T C 8: 106,412,947 (GRCm39) probably null Het
Catspere2 G A 1: 177,905,048 (GRCm39) E153K possibly damaging Het
Ccdc162 C T 10: 41,542,737 (GRCm39) R379Q probably benign Het
Cd200l1 T C 16: 45,264,199 (GRCm39) T120A probably benign Het
Cdh16 A G 8: 105,341,136 (GRCm39) L116P probably damaging Het
Cenpj A T 14: 56,796,076 (GRCm39) H260Q possibly damaging Het
Cenpq A G 17: 41,244,027 (GRCm39) V17A possibly damaging Het
Cep350 T C 1: 155,803,862 (GRCm39) K1074E probably damaging Het
Chil4 C A 3: 106,109,121 (GRCm39) C394F probably damaging Het
Chst9 T C 18: 15,850,983 (GRCm39) I28V probably benign Het
Clasp2 C A 9: 113,728,649 (GRCm39) N873K probably damaging Het
Clec4b2 T A 6: 123,158,269 (GRCm39) M45K probably benign Het
Cmya5 T A 13: 93,200,048 (GRCm39) T3427S possibly damaging Het
Cnih4 A G 1: 180,989,777 (GRCm39) Y130C probably damaging Het
Cpne9 T A 6: 113,281,506 (GRCm39) M529K probably damaging Het
Crppa A T 12: 36,440,481 (GRCm39) N130Y probably damaging Het
Ctsr T A 13: 61,309,639 (GRCm39) Y190F probably damaging Het
Cyp2j13 G A 4: 95,945,153 (GRCm39) H351Y probably benign Het
Dixdc1 T A 9: 50,613,265 (GRCm39) Q230L probably damaging Het
Dpep1 A T 8: 123,926,764 (GRCm39) I226F probably benign Het
Efcab3 A T 11: 104,805,721 (GRCm39) N3076I unknown Het
Ehd2 A G 7: 15,691,603 (GRCm39) V243A probably benign Het
Etnk2 T A 1: 133,306,232 (GRCm39) Y353N probably benign Het
Fgg G T 3: 82,920,322 (GRCm39) G367V probably damaging Het
Gm9772 T C 17: 22,225,310 (GRCm39) *61Q probably null Het
Grk5 T G 19: 61,078,432 (GRCm39) D496E possibly damaging Het
Hc T C 2: 34,909,535 (GRCm39) N915S probably benign Het
Iah1 G T 12: 21,367,388 (GRCm39) Q31H probably benign Het
Insr T C 8: 3,219,714 (GRCm39) D936G probably benign Het
Ints6 A C 14: 62,939,902 (GRCm39) V596G probably benign Het
Kcnj16 A G 11: 110,915,677 (GRCm39) D113G possibly damaging Het
Kdm4b A T 17: 56,706,771 (GRCm39) I928F probably damaging Het
Lrrc41 C T 4: 115,932,488 (GRCm39) probably benign Het
Lrrc8e G A 8: 4,285,070 (GRCm39) V432I probably benign Het
Mamdc4 T C 2: 25,458,501 (GRCm39) E336G probably benign Het
Maml2 C A 9: 13,532,918 (GRCm39) Q711K Het
Map3k14 T C 11: 103,118,498 (GRCm39) T563A possibly damaging Het
Mcu T A 10: 59,303,535 (GRCm39) K101* probably null Het
Mettl22 T A 16: 8,303,792 (GRCm39) V286E probably damaging Het
Mon2 A T 10: 122,845,516 (GRCm39) N1396K possibly damaging Het
Mprip T C 11: 59,587,851 (GRCm39) probably benign Het
Mrpl51 C T 6: 125,170,344 (GRCm39) L117F probably damaging Het
Myo1d C A 11: 80,565,758 (GRCm39) V356F probably damaging Het
Myo1d T A 11: 80,567,758 (GRCm39) I241F probably benign Het
Nacad T C 11: 6,552,853 (GRCm39) T113A probably benign Het
Nrap T A 19: 56,352,843 (GRCm39) probably benign Het
Or10b1 G A 10: 78,356,284 (GRCm39) V281M possibly damaging Het
Or2z2 T C 11: 58,345,936 (GRCm39) T280A possibly damaging Het
Or56b2 T A 7: 104,337,387 (GRCm39) I55N probably damaging Het
Or5ae1 T A 7: 84,565,626 (GRCm39) I213N possibly damaging Het
Or5w1 T C 2: 87,486,591 (GRCm39) I225V possibly damaging Het
Or6z3 T C 7: 6,463,763 (GRCm39) L85P probably damaging Het
Osbpl3 T C 6: 50,328,852 (GRCm39) D117G probably damaging Het
Parp9 C T 16: 35,773,981 (GRCm39) R318* probably null Het
Pcdhb18 A G 18: 37,623,374 (GRCm39) I235V probably benign Het
Pex16 T G 2: 92,209,366 (GRCm39) probably benign Het
Piezo2 T A 18: 63,248,034 (GRCm39) M489L probably benign Het
Pmepa1 C A 2: 173,069,628 (GRCm39) G271V probably damaging Het
Safb A G 17: 56,910,579 (GRCm39) E659G unknown Het
Scn9a T C 2: 66,332,010 (GRCm39) T1289A probably damaging Het
Secisbp2l T C 2: 125,617,596 (GRCm39) D27G possibly damaging Het
Serpina1f A G 12: 103,660,240 (GRCm39) V14A probably benign Het
Serpinb9b C A 13: 33,213,452 (GRCm39) T3N possibly damaging Het
Sfxn5 C T 6: 85,206,182 (GRCm39) M315I probably benign Het
Slc9b2 A G 3: 135,035,530 (GRCm39) D333G probably benign Het
Sostdc1 A G 12: 36,367,229 (GRCm39) N135S possibly damaging Het
Spg11 T G 2: 121,901,425 (GRCm39) D1505A probably damaging Het
Spmip8 A T 8: 96,047,883 (GRCm39) probably benign Het
Taar7a T C 10: 23,869,279 (GRCm39) N34S probably benign Het
Tcerg1l C A 7: 137,811,526 (GRCm39) R556L possibly damaging Het
Tcp11l1 T C 2: 104,518,763 (GRCm39) K311R probably benign Het
Trbv16 T G 6: 41,128,972 (GRCm39) F52C probably damaging Het
Ttn T A 2: 76,726,016 (GRCm39) R6073S unknown Het
Uba1y T C Y: 828,818 (GRCm39) I542T possibly damaging Het
Vmn1r214 T C 13: 23,219,082 (GRCm39) I192T probably benign Het
Vmn2r67 C T 7: 84,786,346 (GRCm39) C553Y probably damaging Het
Zdhhc17 G T 10: 110,784,121 (GRCm39) H452N 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
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
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'- TTGGGAACTCCTCCGAACAC -3'
(R):5'- CAAAAGGCCCTGATTTCTGTTTAG -3'

Sequencing Primer
(F):5'- TCCCTGCGATGAGGTCTC -3'
(R):5'- GGAAATAATCAGAGCTCTTGGTAGC -3'
Posted On 2022-05-25