Incidental Mutation 'R2227:Naalad2'
| ID |
239794 |
| 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 |
040228-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.306)
|
| Stock # |
R2227 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
18233247-18308834 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18287829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 267
(V267E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001826]
[ENSMUST00000166825]
[ENSMUST00000172171]
|
| AlphaFold |
Q9CZR2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001826
AA Change: V267E
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000001826
Gene: ENSMUSG00000043943
AA Change: V267E
| 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: V229E
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128674
Gene: ENSMUSG00000043943
AA Change: V229E
| 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 |
possibly damaging
Transcript: ENSMUST00000172171
AA Change: V267E
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130752
Gene: ENSMUSG00000043943
AA Change: V267E
| 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 |
|
| Meta Mutation Damage Score |
0.3433 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
T |
A |
14: 60,325,668 (GRCm39) |
|
probably benign |
Het |
| Abtb1 |
A |
C |
6: 88,813,349 (GRCm39) |
L439R |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,345,829 (GRCm39) |
T293A |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,581,961 (GRCm39) |
V306D |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,511,147 (GRCm39) |
T17S |
probably damaging |
Het |
| Ar |
T |
A |
X: 97,194,937 (GRCm39) |
M517K |
probably benign |
Het |
| Atg9b |
A |
G |
5: 24,591,393 (GRCm39) |
V735A |
possibly damaging |
Het |
| BB014433 |
C |
A |
8: 15,091,717 (GRCm39) |
A379S |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,989,305 (GRCm39) |
S123P |
probably damaging |
Het |
| Ccl2 |
G |
T |
11: 81,927,427 (GRCm39) |
|
probably null |
Het |
| Cct2 |
T |
C |
10: 116,888,922 (GRCm39) |
R526G |
probably null |
Het |
| Cep55 |
T |
C |
19: 38,051,082 (GRCm39) |
M164T |
probably benign |
Het |
| Clec2d |
G |
A |
6: 129,161,214 (GRCm39) |
A104T |
probably benign |
Het |
| Cyp3a11 |
A |
G |
5: 145,805,357 (GRCm39) |
L220P |
possibly damaging |
Het |
| Dgkk |
T |
A |
X: 6,741,487 (GRCm39) |
D102E |
probably damaging |
Het |
| Emcn |
T |
C |
3: 137,109,778 (GRCm39) |
I140T |
possibly damaging |
Het |
| Exoc2 |
T |
A |
13: 31,048,867 (GRCm39) |
I729L |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 97,981,675 (GRCm39) |
I338V |
probably benign |
Het |
| Gucy2c |
G |
A |
6: 136,679,758 (GRCm39) |
T943I |
probably damaging |
Het |
| Hdac9 |
C |
T |
12: 34,457,801 (GRCm39) |
V251I |
probably benign |
Het |
| Hoxa10 |
T |
C |
6: 52,209,616 (GRCm39) |
E52G |
probably damaging |
Het |
| Il17rb |
A |
T |
14: 29,728,038 (GRCm39) |
S56R |
probably benign |
Het |
| Knl1 |
A |
G |
2: 118,902,481 (GRCm39) |
D1394G |
probably damaging |
Het |
| Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
| Krt6b |
A |
G |
15: 101,587,557 (GRCm39) |
V179A |
probably damaging |
Het |
| Lpar5 |
A |
T |
6: 125,058,098 (GRCm39) |
|
probably null |
Het |
| Marchf7 |
A |
G |
2: 60,060,190 (GRCm39) |
R106G |
probably benign |
Het |
| Mtus1 |
C |
T |
8: 41,535,812 (GRCm39) |
V635M |
probably damaging |
Het |
| Myl1 |
T |
C |
1: 66,983,974 (GRCm39) |
K31E |
possibly damaging |
Het |
| Myt1l |
T |
A |
12: 29,876,969 (GRCm39) |
L207I |
unknown |
Het |
| Pkhd1l1 |
T |
C |
15: 44,376,188 (GRCm39) |
I950T |
possibly damaging |
Het |
| Ppp1r9a |
G |
T |
6: 5,154,074 (GRCm39) |
R1081L |
probably benign |
Het |
| Rc3h1 |
T |
C |
1: 160,791,112 (GRCm39) |
I932T |
probably benign |
Het |
| Rubcnl |
G |
A |
14: 75,279,832 (GRCm39) |
R405Q |
probably benign |
Het |
| Saxo5 |
A |
G |
8: 3,529,249 (GRCm39) |
T245A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,888,069 (GRCm39) |
E53G |
probably damaging |
Het |
| Slco1a8 |
T |
G |
6: 141,938,087 (GRCm39) |
E277D |
possibly damaging |
Het |
| Spin2g |
A |
T |
X: 33,656,599 (GRCm39) |
I171N |
possibly damaging |
Het |
| Srsf6 |
G |
A |
2: 162,773,619 (GRCm39) |
S10N |
probably damaging |
Het |
| Tesl2 |
T |
A |
X: 23,825,173 (GRCm39) |
M1L |
probably null |
Het |
| Thoc2l |
T |
A |
5: 104,667,286 (GRCm39) |
Y603N |
probably damaging |
Het |
| Tnn |
A |
T |
1: 159,975,035 (GRCm39) |
C131S |
probably damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,771,529 (GRCm39) |
|
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,847 (GRCm39) |
I10V |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,458,765 (GRCm39) |
R20G |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,222 (GRCm39) |
L389I |
possibly damaging |
Het |
| Zfp735 |
T |
G |
11: 73,602,223 (GRCm39) |
L389* |
probably null |
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 |
|
|
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 |
|
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'- TTCCTAGCAATCAAAATCCAATGACAT -3'
(R):5'- GTTTGAAGGCAAAGATAACAAACAT -3'
Sequencing Primer
(F):5'- GCAATCAAAATCCAATGACATAAAGG -3'
(R):5'- AAACATATAACAACACCATTGAAAGC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation