Incidental Mutation 'R6791:Naalad2'
ID 532592
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 044904-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.306) question?
Stock # R6791 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 18233247-18308834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18296426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 75 (T75A)
Ref Sequence ENSEMBL: ENSMUSP00000133157 (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: T75A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000001826
Gene: ENSMUSG00000043943
AA Change: T75A

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
AA Change: T37A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128674
Gene: ENSMUSG00000043943
AA Change: T37A

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 possibly damaging
Transcript: ENSMUST00000172116
AA Change: T75A

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133157
Gene: ENSMUSG00000043943
AA Change: T75A

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172171
AA Change: T75A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130752
Gene: ENSMUSG00000043943
AA Change: T75A

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,504 (GRCm39) C3526S probably damaging Het
Adgrf2 T C 17: 43,021,774 (GRCm39) N350S probably benign Het
Atp12a G A 14: 56,624,439 (GRCm39) probably null Het
AW551984 T G 9: 39,511,955 (GRCm39) S19R probably damaging Het
Bet1l A G 7: 140,434,418 (GRCm39) I77T possibly damaging Het
Cfap206 T C 4: 34,711,414 (GRCm39) I494M possibly damaging Het
Cog3 A G 14: 75,968,118 (GRCm39) I415T probably damaging Het
Col15a1 C T 4: 47,300,518 (GRCm39) P1060S probably damaging Het
Ctrb1 A G 8: 112,415,981 (GRCm39) V71A possibly damaging Het
Ddhd2 T C 8: 26,242,242 (GRCm39) Y211C probably benign Het
Fbxl20 T C 11: 98,000,336 (GRCm39) T128A probably benign Het
Fdps A G 3: 89,002,659 (GRCm39) probably null Het
Gm4302 TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 10: 100,177,361 (GRCm39) probably benign Het
Gm8369 T A 19: 11,489,200 (GRCm39) probably benign Het
Grm6 T C 11: 50,750,601 (GRCm39) V588A possibly damaging Het
Heatr6 T C 11: 83,649,167 (GRCm39) L174S probably benign Het
Kif1a G A 1: 92,993,859 (GRCm39) P364S probably damaging Het
Klk7 A G 7: 43,462,684 (GRCm39) D163G probably benign Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Lamb3 T C 1: 193,017,169 (GRCm39) S787P possibly damaging Het
Lrp5 C T 19: 3,650,753 (GRCm39) C1227Y probably damaging Het
Mgst1 G A 6: 138,118,805 (GRCm39) probably benign Het
Mllt6 T C 11: 97,571,428 (GRCm39) S1022P probably damaging Het
Mtmr2 T C 9: 13,716,678 (GRCm39) I521T probably benign Het
Nadsyn1 A T 7: 143,372,845 (GRCm39) I83N probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Neurl4 T A 11: 69,799,336 (GRCm39) L904Q probably damaging Het
Ngp A C 9: 110,249,017 (GRCm39) I30L probably benign Het
Or5af1 T C 11: 58,722,903 (GRCm39) Y308H probably benign Het
Or6c5c G A 10: 129,299,023 (GRCm39) M159I probably benign Het
Orm2 A T 4: 63,282,196 (GRCm39) M125L probably benign Het
Pax2 A T 19: 44,777,260 (GRCm39) D151V possibly damaging Het
Polg A G 7: 79,109,857 (GRCm39) V382A probably benign Het
Ppargc1b C A 18: 61,440,747 (GRCm39) G724W probably damaging Het
Pramel11 T A 4: 143,622,252 (GRCm39) I368F probably benign Het
Prss16 A T 13: 22,190,237 (GRCm39) V307E probably damaging Het
Prss54 T G 8: 96,291,283 (GRCm39) probably null Het
Rspo1 A G 4: 124,900,976 (GRCm39) H108R probably benign Het
Sh3bp5l C A 11: 58,237,098 (GRCm39) H352N probably damaging Het
Skor1 T C 9: 63,047,636 (GRCm39) probably null Het
Smad6 A G 9: 63,919,509 (GRCm39) Y289H probably benign Het
Spart G A 3: 55,034,982 (GRCm39) G456D probably damaging Het
Spg11 T C 2: 121,923,924 (GRCm39) E799G probably damaging Het
Tbc1d4 T G 14: 101,845,695 (GRCm39) K68Q probably damaging Het
Treml2 A G 17: 48,616,247 (GRCm39) M296V probably benign Het
Ugt2b1 C A 5: 87,067,116 (GRCm39) D436Y probably damaging Het
Usp9y A T Y: 1,325,042 (GRCm39) probably null Homo
Vmn2r6 T C 3: 64,445,580 (GRCm39) Y626C probably damaging Het
Xpc G A 6: 91,483,839 (GRCm39) A169V probably benign Het
Zfp131 A G 13: 120,228,129 (GRCm39) V506A probably damaging Het
Zfp74 A G 7: 29,633,860 (GRCm39) I616T 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
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
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'- TTCATCCCCAGTGATATAGACAC -3'
(R):5'- AAGCCTGCACAATGATCTGTTG -3'

Sequencing Primer
(F):5'- TACGCTTGCTCATGCAA -3'
(R):5'- GCACAATGATCTGTTGGTTATTATTG -3'
Posted On 2018-08-29