Incidental Mutation 'R5097:Nprl2'
| ID |
388095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nprl2
|
| Ensembl Gene |
ENSMUSG00000010057 |
| Gene Name |
NPR2 like, GATOR1 complex subunit |
| Synonyms |
NPRL2, 2810446G01Rik, NPR2L, Tusc4, G21 |
| MMRRC Submission |
042686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.824)
|
| Stock # |
R5097 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107419425-107422905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107420731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 122
(E122G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010188]
[ENSMUST00000010189]
[ENSMUST00000010201]
[ENSMUST00000041459]
[ENSMUST00000193303]
[ENSMUST00000195370]
[ENSMUST00000195235]
[ENSMUST00000194967]
|
| AlphaFold |
Q9WUE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010188
|
| SMART Domains |
Protein: ENSMUSP00000010188
Gene: ENSMUSG00000010044
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-MYND
|
394 |
430 |
1.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010189
|
| SMART Domains |
Protein: ENSMUSP00000010189
Gene: ENSMUSG00000010045
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
DUF1751
|
49 |
151 |
4.14e-41 |
SMART |
|
transmembrane domain
|
164 |
183 |
N/A |
INTRINSIC |
|
transmembrane domain
|
190 |
208 |
N/A |
INTRINSIC |
|
transmembrane domain
|
223 |
245 |
N/A |
INTRINSIC |
|
Blast:DUF1751
|
304 |
347 |
2e-20 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010201
AA Change: E122G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000010201
Gene: ENSMUSG00000010057
AA Change: E122G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPR2
|
5 |
279 |
1.7e-75 |
PFAM |
|
Pfam:NPR2
|
269 |
373 |
1.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041459
|
| SMART Domains |
Protein: ENSMUSP00000044093
Gene: ENSMUSG00000037190
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
B561
|
47 |
178 |
8.01e-42 |
SMART |
|
transmembrane domain
|
189 |
211 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192951
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193628
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195370
AA Change: E122G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141746
Gene: ENSMUSG00000010057
AA Change: E122G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPR2
|
2 |
156 |
1.2e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193782
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195235
|
| SMART Domains |
Protein: ENSMUSP00000141723
Gene: ENSMUSG00000037190
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
B561
|
47 |
178 |
8.01e-42 |
SMART |
|
transmembrane domain
|
189 |
211 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194967
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194344
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced embryo size, microphthalmia, occaional anophthalmia, pale liver, reduced fetal liver hematopoiesis, impaired erythropoiesis and reduced methionine synthesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
A |
5: 89,840,909 (GRCm39) |
V805F |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,865,165 (GRCm39) |
T226M |
probably damaging |
Het |
| Ak5 |
A |
G |
3: 152,187,270 (GRCm39) |
S406P |
probably damaging |
Het |
| Akt3 |
C |
G |
1: 177,076,254 (GRCm39) |
V12L |
probably benign |
Het |
| Arhgef40 |
A |
C |
14: 52,227,146 (GRCm39) |
S397R |
probably damaging |
Het |
| Atp5f1c |
A |
G |
2: 10,068,323 (GRCm39) |
V144A |
probably benign |
Het |
| Ccser1 |
A |
G |
6: 61,289,144 (GRCm39) |
S436G |
probably benign |
Het |
| Clgn |
G |
T |
8: 84,137,152 (GRCm39) |
V290F |
possibly damaging |
Het |
| Dis3l |
T |
A |
9: 64,226,498 (GRCm39) |
D261V |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,981,435 (GRCm39) |
Y2577F |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,243,317 (GRCm39) |
E371G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,201,530 (GRCm39) |
S515P |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,329 (GRCm39) |
I6021V |
probably benign |
Het |
| Ftdc1 |
A |
C |
16: 58,434,227 (GRCm39) |
N163K |
probably benign |
Het |
| Gstm5 |
A |
T |
3: 107,803,258 (GRCm39) |
|
probably benign |
Het |
| H2-Oa |
G |
A |
17: 34,312,809 (GRCm39) |
D29N |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ireb2 |
A |
G |
9: 54,802,668 (GRCm39) |
I434M |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Micall1 |
A |
G |
15: 79,014,078 (GRCm39) |
T658A |
probably benign |
Het |
| Mitf |
C |
T |
6: 97,973,423 (GRCm39) |
A252V |
possibly damaging |
Het |
| Mpzl1 |
A |
G |
1: 165,433,285 (GRCm39) |
I122T |
probably damaging |
Het |
| Mtus2 |
G |
A |
5: 148,232,392 (GRCm39) |
V146I |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,023,770 (GRCm39) |
|
probably null |
Het |
| Myrfl |
A |
G |
10: 116,653,609 (GRCm39) |
I486T |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,974,561 (GRCm39) |
V1477A |
probably damaging |
Het |
| Ndc1 |
T |
A |
4: 107,231,358 (GRCm39) |
S100T |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,857,851 (GRCm38) |
N433K |
probably benign |
Het |
| Noc4l |
C |
T |
5: 110,799,212 (GRCm39) |
S190N |
probably benign |
Het |
| Or13a19 |
A |
G |
7: 139,903,008 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or1e16 |
G |
C |
11: 73,286,119 (GRCm39) |
S243C |
probably damaging |
Het |
| Or6n2 |
C |
T |
1: 173,897,095 (GRCm39) |
T77I |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,896,594 (GRCm39) |
I324V |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Peg3 |
C |
T |
7: 6,713,026 (GRCm39) |
R732H |
probably damaging |
Het |
| Rfc4 |
A |
G |
16: 22,933,046 (GRCm39) |
I297T |
possibly damaging |
Het |
| Rpl3l |
T |
A |
17: 24,952,435 (GRCm39) |
D218E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,224,209 (GRCm39) |
V400I |
probably benign |
Het |
| Syt11 |
C |
T |
3: 88,655,231 (GRCm39) |
V51I |
probably benign |
Het |
| Tas2r115 |
A |
C |
6: 132,714,216 (GRCm39) |
L245R |
probably damaging |
Het |
| Tmem115 |
G |
A |
9: 107,412,059 (GRCm39) |
V128I |
probably benign |
Het |
| Trim47 |
A |
G |
11: 115,997,260 (GRCm39) |
V499A |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,638,256 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
A |
G |
7: 109,687,998 (GRCm39) |
D479G |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,839,878 (GRCm39) |
T91A |
possibly damaging |
Het |
|
| Other mutations in Nprl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00897:Nprl2
|
APN |
9 |
107,422,727 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0015:Nprl2
|
UTSW |
9 |
107,421,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Nprl2
|
UTSW |
9 |
107,421,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Nprl2
|
UTSW |
9 |
107,420,497 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0540:Nprl2
|
UTSW |
9 |
107,422,497 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1507:Nprl2
|
UTSW |
9 |
107,420,191 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2113:Nprl2
|
UTSW |
9 |
107,422,511 (GRCm39) |
missense |
probably benign |
|
|
R4969:Nprl2
|
UTSW |
9 |
107,420,273 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5040:Nprl2
|
UTSW |
9 |
107,419,599 (GRCm39) |
missense |
probably null |
0.40 |
|
R5422:Nprl2
|
UTSW |
9 |
107,420,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5544:Nprl2
|
UTSW |
9 |
107,421,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5915:Nprl2
|
UTSW |
9 |
107,422,277 (GRCm39) |
unclassified |
probably benign |
|
|
R8022:Nprl2
|
UTSW |
9 |
107,420,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8210:Nprl2
|
UTSW |
9 |
107,421,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8907:Nprl2
|
UTSW |
9 |
107,421,995 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9331:Nprl2
|
UTSW |
9 |
107,421,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGCTGGCCGGCTACTTG -3'
(R):5'- CAAGAATCTTTGCCTCTGCC -3'
Sequencing Primer
(F):5'- TACTTGACCACGCTGGAGG -3'
(R):5'- GAATCTTTGCCTCTGCCAGTGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation