Incidental Mutation 'R9420:Npnt'
| ID |
712261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npnt
|
| Ensembl Gene |
ENSMUSG00000040998 |
| Gene Name |
nephronectin |
| Synonyms |
POEM, 1110009H02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R9420 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
132587506-132656052 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 132653866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 38
(Y38*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042729]
[ENSMUST00000042744]
[ENSMUST00000093971]
[ENSMUST00000117164]
[ENSMUST00000117456]
[ENSMUST00000117811]
|
| AlphaFold |
Q91V88 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042729
AA Change: Y38*
|
| SMART Domains |
Protein: ENSMUSP00000040071
Gene: ENSMUSG00000040998
AA Change: Y38*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
EGF
|
76 |
104 |
1.53e-1 |
SMART |
|
EGF_CA
|
106 |
145 |
1.85e-9 |
SMART |
|
EGF
|
149 |
185 |
1.73e1 |
SMART |
|
EGF
|
189 |
230 |
7.53e-1 |
SMART |
|
EGF_CA
|
231 |
271 |
5.31e-10 |
SMART |
|
low complexity region
|
324 |
383 |
N/A |
INTRINSIC |
|
Pfam:MAM
|
439 |
578 |
8.2e-28 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000042744
AA Change: Y38*
|
| SMART Domains |
Protein: ENSMUSP00000040684
Gene: ENSMUSG00000040998
AA Change: Y38*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
EGF
|
59 |
87 |
7.6e-4 |
SMART |
|
EGF_CA
|
89 |
128 |
9e-12 |
SMART |
|
EGF
|
132 |
168 |
8.5e-2 |
SMART |
|
EGF
|
172 |
213 |
3.5e-3 |
SMART |
|
EGF_CA
|
214 |
254 |
2.6e-12 |
SMART |
|
low complexity region
|
307 |
366 |
N/A |
INTRINSIC |
|
MAM
|
417 |
560 |
1.4e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000093971
AA Change: Y38*
|
| SMART Domains |
Protein: ENSMUSP00000091505
Gene: ENSMUSG00000040998
AA Change: Y38*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
EGF
|
76 |
104 |
1.53e-1 |
SMART |
|
EGF_CA
|
137 |
176 |
1.85e-9 |
SMART |
|
EGF
|
180 |
216 |
1.73e1 |
SMART |
|
EGF
|
220 |
261 |
7.53e-1 |
SMART |
|
EGF_CA
|
262 |
302 |
5.31e-10 |
SMART |
|
low complexity region
|
355 |
414 |
N/A |
INTRINSIC |
|
Pfam:MAM
|
470 |
609 |
1.9e-23 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117164
AA Change: Y38*
|
| SMART Domains |
Protein: ENSMUSP00000113419
Gene: ENSMUSG00000040998
AA Change: Y38*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
EGF
|
59 |
87 |
1.53e-1 |
SMART |
|
EGF_CA
|
120 |
159 |
1.85e-9 |
SMART |
|
EGF
|
163 |
199 |
1.73e1 |
SMART |
|
EGF
|
203 |
244 |
7.53e-1 |
SMART |
|
EGF_CA
|
245 |
285 |
5.31e-10 |
SMART |
|
low complexity region
|
338 |
397 |
N/A |
INTRINSIC |
|
Pfam:MAM
|
453 |
592 |
8.6e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117456
|
| SMART Domains |
Protein: ENSMUSP00000112816
Gene: ENSMUSG00000040998
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
28 |
64 |
1.73e1 |
SMART |
|
EGF
|
68 |
109 |
7.53e-1 |
SMART |
|
EGF_CA
|
110 |
150 |
5.31e-10 |
SMART |
|
low complexity region
|
203 |
262 |
N/A |
INTRINSIC |
|
Pfam:MAM
|
318 |
457 |
5.3e-28 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117811
AA Change: Y38*
|
| SMART Domains |
Protein: ENSMUSP00000113752
Gene: ENSMUSG00000040998
AA Change: Y38*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
EGF
|
59 |
87 |
1.53e-1 |
SMART |
|
EGF_CA
|
89 |
128 |
1.85e-9 |
SMART |
|
EGF
|
132 |
168 |
1.73e1 |
SMART |
|
EGF
|
172 |
213 |
7.53e-1 |
SMART |
|
EGF_CA
|
214 |
254 |
5.31e-10 |
SMART |
|
low complexity region
|
307 |
366 |
N/A |
INTRINSIC |
|
Pfam:MAM
|
393 |
532 |
3.3e-28 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele frequently exhibit kidney agenesis or hypoplasia attributed to a delay in the invasion of the metanephric mesenchyme by the ureteric bud at an early stage of kidney development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,912,277 (GRCm39) |
I56T |
probably benign |
Het |
| Adissp |
T |
C |
2: 130,993,682 (GRCm39) |
|
probably null |
Het |
| Akr1c12 |
A |
G |
13: 4,325,796 (GRCm39) |
L99S |
probably damaging |
Het |
| Azin1 |
C |
A |
15: 38,493,871 (GRCm39) |
V251F |
possibly damaging |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| C2cd3 |
A |
T |
7: 100,065,262 (GRCm39) |
M305L |
|
Het |
| Casz1 |
A |
G |
4: 149,023,320 (GRCm39) |
T742A |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,352,426 (GRCm39) |
|
probably null |
Het |
| Clec2e |
T |
A |
6: 129,071,420 (GRCm39) |
Y139F |
possibly damaging |
Het |
| Crisp2 |
T |
A |
17: 41,094,724 (GRCm39) |
N117I |
possibly damaging |
Het |
| Ddx52 |
A |
T |
11: 83,833,008 (GRCm39) |
D2V |
probably damaging |
Het |
| Dmpk |
T |
A |
7: 18,824,946 (GRCm39) |
V442E |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,368,942 (GRCm39) |
M1654K |
probably benign |
Het |
| Eln |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
5: 134,739,935 (GRCm39) |
|
probably benign |
Het |
| Erlec1 |
A |
G |
11: 30,885,054 (GRCm39) |
V411A |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Fry |
A |
G |
5: 150,356,994 (GRCm39) |
E1847G |
possibly damaging |
Het |
| Gck |
A |
G |
11: 5,899,553 (GRCm39) |
|
probably null |
Het |
| Gga2 |
T |
C |
7: 121,603,195 (GRCm39) |
D167G |
probably damaging |
Het |
| Gprc6a |
A |
G |
10: 51,491,506 (GRCm39) |
S748P |
probably damaging |
Het |
| H2-M10.2 |
T |
C |
17: 36,595,643 (GRCm39) |
R216G |
probably benign |
Het |
| H2-M2 |
T |
A |
17: 37,792,215 (GRCm39) |
I312F |
probably benign |
Het |
| Havcr2 |
A |
T |
11: 46,347,350 (GRCm39) |
Y109F |
probably damaging |
Het |
| Hoga1 |
T |
C |
19: 42,048,333 (GRCm39) |
V67A |
|
Het |
| Ift70b |
T |
A |
2: 75,768,391 (GRCm39) |
I121F |
possibly damaging |
Het |
| Kcnk12 |
C |
A |
17: 88,104,507 (GRCm39) |
V126L |
possibly damaging |
Het |
| Klc1 |
A |
G |
12: 111,738,950 (GRCm39) |
E66G |
probably damaging |
Het |
| Klhl2 |
A |
T |
8: 65,205,870 (GRCm39) |
Y350* |
probably null |
Het |
| Letm1 |
T |
C |
5: 33,926,802 (GRCm39) |
H165R |
probably damaging |
Het |
| Luc7l2 |
T |
C |
6: 38,547,489 (GRCm39) |
C36R |
probably damaging |
Het |
| Mab21l1 |
A |
G |
3: 55,690,674 (GRCm39) |
N87S |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,678,414 (GRCm39) |
T681A |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,312,790 (GRCm39) |
T904I |
possibly damaging |
Het |
| Mrpl38 |
A |
G |
11: 116,023,276 (GRCm39) |
S326P |
probably damaging |
Het |
| Mtr |
T |
G |
13: 12,268,764 (GRCm39) |
K32N |
probably benign |
Het |
| Mybpc3 |
T |
A |
2: 90,965,478 (GRCm39) |
C1128* |
probably null |
Het |
| Ncdn |
T |
C |
4: 126,645,762 (GRCm39) |
D49G |
probably damaging |
Het |
| Nfkbiz |
G |
A |
16: 55,642,337 (GRCm39) |
T27I |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,581,931 (GRCm39) |
E1622G |
probably benign |
Het |
| Nutm2 |
T |
C |
13: 50,626,964 (GRCm39) |
I373T |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,715 (GRCm39) |
I201V |
probably benign |
Het |
| Or51m1 |
T |
C |
7: 103,578,980 (GRCm39) |
S317P |
possibly damaging |
Het |
| Osbp2 |
A |
G |
11: 3,662,170 (GRCm39) |
S228P |
probably damaging |
Het |
| Pbx3 |
C |
T |
2: 34,103,348 (GRCm39) |
R208Q |
probably damaging |
Het |
| Pcdhgb5 |
T |
C |
18: 37,864,838 (GRCm39) |
V211A |
probably benign |
Het |
| Pi16 |
C |
T |
17: 29,544,899 (GRCm39) |
T151M |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,420,933 (GRCm39) |
I1068T |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,035,154 (GRCm39) |
Y309N |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
| Serpina3g |
G |
C |
12: 104,206,518 (GRCm39) |
E106D |
probably benign |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Son |
G |
C |
16: 91,454,508 (GRCm39) |
R1085P |
probably damaging |
Het |
| Tasor |
A |
T |
14: 27,163,927 (GRCm39) |
I238F |
probably damaging |
Het |
| Tbx18 |
C |
A |
9: 87,612,675 (GRCm39) |
A75S |
probably benign |
Het |
| Tmem232 |
C |
A |
17: 65,792,881 (GRCm39) |
Q105H |
probably damaging |
Het |
| Ttc29 |
A |
G |
8: 79,060,390 (GRCm39) |
I437V |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,621,887 (GRCm39) |
I15552L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,750,313 (GRCm39) |
T3579S |
probably benign |
Het |
| Vps11 |
A |
G |
9: 44,267,719 (GRCm39) |
F298L |
probably benign |
Het |
| Wbp11 |
T |
C |
6: 136,791,259 (GRCm39) |
T625A |
unknown |
Het |
| Xylb |
T |
A |
9: 119,215,428 (GRCm39) |
N460K |
probably damaging |
Het |
| Znrf4 |
C |
A |
17: 56,819,218 (GRCm39) |
V30F |
probably damaging |
Het |
|
| Other mutations in Npnt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00731:Npnt
|
APN |
3 |
132,610,418 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01457:Npnt
|
APN |
3 |
132,591,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01954:Npnt
|
APN |
3 |
132,615,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01999:Npnt
|
APN |
3 |
132,614,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02012:Npnt
|
APN |
3 |
132,614,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02025:Npnt
|
APN |
3 |
132,596,523 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02637:Npnt
|
APN |
3 |
132,590,271 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0234:Npnt
|
UTSW |
3 |
132,620,175 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0234:Npnt
|
UTSW |
3 |
132,620,175 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1680:Npnt
|
UTSW |
3 |
132,612,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Npnt
|
UTSW |
3 |
132,620,158 (GRCm39) |
nonsense |
probably null |
|
|
R1773:Npnt
|
UTSW |
3 |
132,610,454 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1980:Npnt
|
UTSW |
3 |
132,653,893 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1982:Npnt
|
UTSW |
3 |
132,653,893 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2338:Npnt
|
UTSW |
3 |
132,597,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3800:Npnt
|
UTSW |
3 |
132,612,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Npnt
|
UTSW |
3 |
132,610,452 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4790:Npnt
|
UTSW |
3 |
132,596,523 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5008:Npnt
|
UTSW |
3 |
132,612,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5446:Npnt
|
UTSW |
3 |
132,614,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5471:Npnt
|
UTSW |
3 |
132,620,148 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5538:Npnt
|
UTSW |
3 |
132,610,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5673:Npnt
|
UTSW |
3 |
132,623,258 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5683:Npnt
|
UTSW |
3 |
132,612,601 (GRCm39) |
splice site |
probably null |
|
|
R5827:Npnt
|
UTSW |
3 |
132,612,536 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5857:Npnt
|
UTSW |
3 |
132,614,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5910:Npnt
|
UTSW |
3 |
132,612,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6208:Npnt
|
UTSW |
3 |
132,655,774 (GRCm39) |
unclassified |
probably benign |
|
|
R6358:Npnt
|
UTSW |
3 |
132,610,479 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6875:Npnt
|
UTSW |
3 |
132,615,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7025:Npnt
|
UTSW |
3 |
132,614,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7145:Npnt
|
UTSW |
3 |
132,615,692 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7166:Npnt
|
UTSW |
3 |
132,653,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7287:Npnt
|
UTSW |
3 |
132,612,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7344:Npnt
|
UTSW |
3 |
132,614,100 (GRCm39) |
splice site |
probably null |
|
|
R8344:Npnt
|
UTSW |
3 |
132,614,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8717:Npnt
|
UTSW |
3 |
132,614,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8873:Npnt
|
UTSW |
3 |
132,655,816 (GRCm39) |
start gained |
probably benign |
|
|
R8903:Npnt
|
UTSW |
3 |
132,591,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9414:Npnt
|
UTSW |
3 |
132,612,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTGGGTCAGATCTGCACAG -3'
(R):5'- TCTCCAATTCCTTGCAGGCAG -3'
Sequencing Primer
(F):5'- TTGGGTCAGATCTGCACAGTTAAGAC -3'
(R):5'- CTTGCAGGCAGTAAGGAGCTTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation