Mutagenetix > Incidental Mutation

Incidental Mutation 'R1553:Naalad2'

170087

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

039592-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.306) question?

Stock #

R1553 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18233247-18308834 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18289965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 221 (N221S)

Ref Sequence

ENSEMBL: ENSMUSP00000130752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001826] [ENSMUST00000166825] [ENSMUST00000172171]

AlphaFold

Q9CZR2

Predicted Effect

probably benign
Transcript: ENSMUST00000001826
AA Change: N221S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000001826
Gene: ENSMUSG00000043943
AA Change: N221S

Domain	Start	End	E-Value	Type
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: ENSMUST00000166825
AA Change: N183S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128674
Gene: ENSMUSG00000043943
AA Change: N183S

Domain	Start	End	E-Value	Type
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: ENSMUST00000172171
AA Change: N221S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000130752
Gene: ENSMUSG00000043943
AA Change: N221S

Domain	Start	End	E-Value	Type
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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	G	T	5: 24,613,748 (GRCm39)	A649S	probably damaging	Het
Adam6a	T	A	12: 113,508,835 (GRCm39)	C403S	probably damaging	Het
Adgrg3	T	C	8: 95,766,896 (GRCm39)	F417S	possibly damaging	Het
Ago1	T	C	4: 126,334,194 (GRCm39)	E439G	probably damaging	Het
Alox15	A	G	11: 70,240,458 (GRCm39)	V241A	possibly damaging	Het
Arhgap6	A	G	X: 168,048,480 (GRCm39)	H566R	probably damaging	Het
Asap1	A	T	15: 64,024,701 (GRCm39)	F345I	probably benign	Het
Atp1b2	A	G	11: 69,493,678 (GRCm39)	Y134H	probably damaging	Het
Atp8b3	G	A	10: 80,368,376 (GRCm39)	T199M	probably damaging	Het
Calb1	A	T	4: 15,895,656 (GRCm39)	S115C	probably damaging	Het
Ccdc68	A	T	18: 70,073,192 (GRCm39)	I47F	probably damaging	Het
Cdc42bpa	A	T	1: 179,921,540 (GRCm39)	N560I	probably benign	Het
Cdhr3	T	C	12: 33,092,370 (GRCm39)	D747G	probably benign	Het
Cdk5rap1	T	G	2: 154,194,171 (GRCm39)	N378T	probably damaging	Het
Chil4	T	G	3: 106,111,006 (GRCm39)	N296T	probably benign	Het
Cryaa	G	A	17: 31,898,533 (GRCm39)	V87I	probably damaging	Het
Csk	G	A	9: 57,538,225 (GRCm39)	L28F	probably damaging	Het
Cspp1	A	G	1: 10,156,122 (GRCm39)	N444D	possibly damaging	Het
Cyp2j8	A	G	4: 96,363,794 (GRCm39)	Y290H	probably benign	Het
Eps8l1	A	T	7: 4,480,448 (GRCm39)	D563V	probably damaging	Het
Fam111a	A	T	19: 12,564,682 (GRCm39)	S144C	possibly damaging	Het
Fam135a	A	T	1: 24,060,951 (GRCm39)	S1145R	probably damaging	Het
Fpr2	T	A	17: 18,113,856 (GRCm39)	V284D	possibly damaging	Het
Furin	A	G	7: 80,048,340 (GRCm39)		probably null	Het
Gatd1	T	C	7: 140,989,806 (GRCm39)	T135A	probably benign	Het
Gdf3	A	G	6: 122,586,724 (GRCm39)	S68P	probably benign	Het
Gm6871	T	C	7: 41,195,822 (GRCm39)	H305R	probably benign	Het
Grip1	A	G	10: 119,890,756 (GRCm39)	S917G	probably damaging	Het
Hdac10	T	A	15: 89,009,718 (GRCm39)	E388V	possibly damaging	Het
Hectd1	T	C	12: 51,820,661 (GRCm39)	N1176S	probably damaging	Het
Hectd4	A	G	5: 121,487,322 (GRCm39)	D3439G	probably benign	Het
Kcna4	T	C	2: 107,127,032 (GRCm39)	Y589H	probably benign	Het
Kcnk5	A	T	14: 20,192,462 (GRCm39)	L233Q	probably damaging	Het
Kcnt1	T	C	2: 25,790,397 (GRCm39)	I453T	probably damaging	Het
Kifc3	A	G	8: 95,833,170 (GRCm39)	I440T	possibly damaging	Het
Krt10	C	A	11: 99,276,806 (GRCm39)	G40*	probably null	Het
Lce1i	A	T	3: 92,685,102 (GRCm39)	C25S	unknown	Het
Met	A	G	6: 17,491,460 (GRCm39)	N74S	probably benign	Het
Naa35	G	A	13: 59,766,093 (GRCm39)		probably null	Het
Nolc1	AGCG	AGCGGCG	19: 46,069,814 (GRCm39)		probably benign	Het
Nsmf	T	C	2: 24,950,271 (GRCm39)	V181A	probably damaging	Het
Nwd2	T	A	5: 63,957,848 (GRCm39)	S393T	probably benign	Het
Or12j3	T	A	7: 139,952,951 (GRCm39)	T191S	probably damaging	Het
Or2d3c	A	T	7: 106,526,201 (GRCm39)	V155E	possibly damaging	Het
Or51a6	T	A	7: 102,604,425 (GRCm39)	I128L	possibly damaging	Het
Papola	T	A	12: 105,786,669 (GRCm39)	S453R	probably benign	Het
Paqr9	A	G	9: 95,442,262 (GRCm39)	N84S	probably damaging	Het
Pde5a	T	C	3: 122,572,585 (GRCm39)	V290A	probably benign	Het
Prf1	T	C	10: 61,138,948 (GRCm39)	V302A	probably damaging	Het
Psg18	T	C	7: 18,087,406 (GRCm39)	Y84C	probably benign	Het
Rasgrf2	C	T	13: 92,038,783 (GRCm39)	R1021H	probably damaging	Het
Rnf114	G	T	2: 167,354,522 (GRCm39)	R201L	possibly damaging	Het
Rp1l1	A	G	14: 64,269,343 (GRCm39)	E1643G	probably benign	Het
Scg3	T	A	9: 75,576,586 (GRCm39)	E263V	probably null	Het
Scn2a	C	T	2: 65,544,180 (GRCm39)	R854*	probably null	Het
Setdb2	T	C	14: 59,654,934 (GRCm39)	K319E	probably benign	Het
Stub1	A	T	17: 26,051,097 (GRCm39)	V95E	probably damaging	Het
Tas2r140	T	A	6: 133,032,471 (GRCm39)	N96Y	probably damaging	Het
Tecta	T	A	9: 42,259,482 (GRCm39)	D1467V	probably damaging	Het
Tenm3	T	A	8: 48,689,456 (GRCm39)	T2044S	probably damaging	Het
Tlr2	T	A	3: 83,744,770 (GRCm39)	M438L	probably benign	Het
Tmem179	T	C	12: 112,471,094 (GRCm39)	Y106C	probably benign	Het
Tspan7	A	G	X: 10,451,854 (GRCm39)	H187R	probably benign	Het
Ttn	T	C	2: 76,757,619 (GRCm39)	D3332G	probably damaging	Het
Upp2	T	C	2: 58,680,152 (GRCm39)	F326S	probably damaging	Het
Usp2	T	A	9: 44,003,452 (GRCm39)	D224E	probably damaging	Het
Vmn1r5	T	A	6: 56,962,483 (GRCm39)	F53I	probably benign	Het
Wapl	T	A	14: 34,451,147 (GRCm39)	L727H	probably damaging	Het
Wipf1	T	C	2: 73,267,870 (GRCm39)	D176G	possibly damaging	Het
Xpnpep1	G	T	19: 52,994,769 (GRCm39)	D243E	probably benign	Het
Zfp616	A	T	11: 73,974,744 (GRCm39)	I429F	possibly damaging	Het
Zfyve26	G	A	12: 79,334,535 (GRCm39)	P161L	probably benign	Het

Other mutations in Naalad2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CCCAGGGAGAACAACCAAAACAATAAACA -3'
(R):5'- TCAGCACCTTTCCCCACTTATTACAAC -3'

Sequencing Primer
(F):5'- ACAAAATTAAGAGCATCTTCAGAGAG -3'
(R):5'- cccccacacccacacac -3'

Posted On

2014-04-13