Incidental Mutation 'R7025:Npnt'
| ID |
545896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npnt
|
| Ensembl Gene |
ENSMUSG00000040998 |
| Gene Name |
nephronectin |
| Synonyms |
POEM, 1110009H02Rik |
| MMRRC Submission |
045126-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R7025 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
132587506-132656052 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 132614157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 47
(C47Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042729]
[ENSMUST00000042744]
[ENSMUST00000093971]
[ENSMUST00000117164]
[ENSMUST00000117456]
[ENSMUST00000117811]
|
| AlphaFold |
Q91V88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042729
AA Change: C168Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040071
Gene: ENSMUSG00000040998
AA Change: C168Y
| 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 damaging
Transcript: ENSMUST00000042744
AA Change: C151Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040684
Gene: ENSMUSG00000040998
AA Change: C151Y
| 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 damaging
Transcript: ENSMUST00000093971
AA Change: C199Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091505
Gene: ENSMUSG00000040998
AA Change: C199Y
| 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 damaging
Transcript: ENSMUST00000117164
AA Change: C182Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113419
Gene: ENSMUSG00000040998
AA Change: C182Y
| 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 damaging
Transcript: ENSMUST00000117456
AA Change: C47Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112816
Gene: ENSMUSG00000040998
AA Change: C47Y
| 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 damaging
Transcript: ENSMUST00000117811
AA Change: C151Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113752
Gene: ENSMUSG00000040998
AA Change: C151Y
| 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: 100.0%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd4 |
T |
A |
11: 102,995,364 (GRCm39) |
L90M |
probably damaging |
Het |
| Acot7 |
T |
C |
4: 152,262,646 (GRCm39) |
S7P |
unknown |
Het |
| Ahcyl2 |
T |
C |
6: 29,908,420 (GRCm39) |
Y388H |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,112,117 (GRCm39) |
R593* |
probably null |
Het |
| Bicral |
T |
C |
17: 47,112,594 (GRCm39) |
T869A |
probably benign |
Het |
| Brca2 |
C |
T |
5: 150,463,943 (GRCm39) |
P1236S |
probably benign |
Het |
| Cacna2d1 |
C |
T |
5: 16,557,666 (GRCm39) |
Q699* |
probably null |
Het |
| Ccser2 |
T |
C |
14: 36,661,964 (GRCm39) |
N407D |
probably damaging |
Het |
| Cd300lg |
A |
G |
11: 101,933,900 (GRCm39) |
Y49C |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,358,900 (GRCm39) |
T108K |
probably damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,440,950 (GRCm39) |
I715K |
possibly damaging |
Het |
| Cyp17a1 |
T |
A |
19: 46,659,419 (GRCm39) |
D137V |
probably damaging |
Het |
| Dbr1 |
A |
G |
9: 99,458,036 (GRCm39) |
T19A |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,629,233 (GRCm39) |
A1441T |
possibly damaging |
Het |
| Dpt |
G |
A |
1: 164,624,508 (GRCm39) |
D70N |
probably damaging |
Het |
| Elk4 |
C |
A |
1: 131,947,107 (GRCm39) |
P366Q |
probably damaging |
Het |
| Eml4 |
A |
C |
17: 83,732,740 (GRCm39) |
D131A |
probably benign |
Het |
| Faap24 |
A |
G |
7: 35,092,296 (GRCm39) |
I207T |
possibly damaging |
Het |
| Fam219a |
T |
C |
4: 41,521,925 (GRCm39) |
S41G |
probably benign |
Het |
| Gask1b |
T |
C |
3: 79,793,855 (GRCm39) |
Y108H |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,755,951 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,408,504 (GRCm39) |
V295A |
probably benign |
Het |
| Kif2a |
A |
G |
13: 107,119,102 (GRCm39) |
Y267H |
probably damaging |
Het |
| Kprp |
T |
A |
3: 92,732,504 (GRCm39) |
Q182L |
probably benign |
Het |
| Krt90 |
T |
C |
15: 101,465,610 (GRCm39) |
K337R |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,313,372 (GRCm39) |
Y2453F |
possibly damaging |
Het |
| Magel2 |
A |
C |
7: 62,029,535 (GRCm39) |
Y813S |
unknown |
Het |
| Myh7 |
C |
A |
14: 55,212,101 (GRCm39) |
E1548* |
probably null |
Het |
| Myh8 |
A |
G |
11: 67,188,365 (GRCm39) |
T1009A |
probably benign |
Het |
| Nab2 |
T |
A |
10: 127,502,377 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,186,285 (GRCm39) |
D929G |
possibly damaging |
Het |
| Nelfb |
A |
C |
2: 25,100,505 (GRCm39) |
V155G |
probably damaging |
Het |
| Nmur1 |
C |
A |
1: 86,315,570 (GRCm39) |
M65I |
possibly damaging |
Het |
| Nop56 |
C |
T |
2: 130,119,801 (GRCm39) |
R81* |
probably null |
Het |
| Nrp1 |
G |
T |
8: 129,207,435 (GRCm39) |
C610F |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,357,948 (GRCm39) |
I269F |
probably damaging |
Het |
| Or5d45 |
T |
C |
2: 88,153,606 (GRCm39) |
K148E |
probably damaging |
Het |
| Or6c63-ps1 |
T |
A |
10: 128,900,544 (GRCm39) |
M1L |
probably benign |
Het |
| Pax5 |
G |
A |
4: 44,679,501 (GRCm39) |
Q93* |
probably null |
Het |
| Pcnt |
G |
T |
10: 76,239,669 (GRCm39) |
Q1273K |
probably damaging |
Het |
| Pde4dip |
G |
A |
3: 97,631,499 (GRCm39) |
Q1137* |
probably null |
Het |
| Pfas |
A |
T |
11: 68,881,586 (GRCm39) |
D959E |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,824,261 (GRCm39) |
K629* |
probably null |
Het |
| Prex1 |
TCCGACCCC |
TCCGACCCCGACCCC |
2: 166,455,107 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,204,281 (GRCm39) |
Q182* |
probably null |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rpe65 |
A |
C |
3: 159,328,322 (GRCm39) |
E406A |
probably damaging |
Het |
| Serpina3k |
A |
T |
12: 104,307,401 (GRCm39) |
Y211F |
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,054,706 (GRCm39) |
I65V |
possibly damaging |
Het |
| Slc22a29 |
G |
A |
19: 8,137,944 (GRCm39) |
P544S |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,686,701 (GRCm39) |
D2281G |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,110,052 (GRCm39) |
M64T |
probably benign |
Het |
| Tnfrsf8 |
C |
T |
4: 145,000,973 (GRCm39) |
V378I |
possibly damaging |
Het |
| Trpm1 |
A |
T |
7: 63,876,462 (GRCm39) |
|
probably null |
Het |
| Ubqln3 |
A |
G |
7: 103,790,482 (GRCm39) |
I536T |
probably benign |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,736 (GRCm39) |
T161A |
possibly damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,345 (GRCm39) |
I393F |
possibly 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 |
|
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 |
|
R9420:Npnt
|
UTSW |
3 |
132,653,866 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGGTCCATTCACAGGAATCC -3'
(R):5'- GAGGGCTGGTTCATTGACTC -3'
Sequencing Primer
(F):5'- GTCCATTCACAGGAATCCTCGTC -3'
(R):5'- GACTCTCTGTTGTTGAATCGCTGAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation