Incidental Mutation 'R7344:Npnt'
| ID |
580620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npnt
|
| Ensembl Gene |
ENSMUSG00000040998 |
| Gene Name |
nephronectin |
| Synonyms |
POEM, 1110009H02Rik |
| MMRRC Submission |
045434-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R7344 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
132587506-132656052 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 132614100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042729]
[ENSMUST00000042744]
[ENSMUST00000093971]
[ENSMUST00000117164]
[ENSMUST00000117456]
[ENSMUST00000117811]
|
| AlphaFold |
Q91V88 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042729
|
| SMART Domains |
Protein: ENSMUSP00000040071
Gene: ENSMUSG00000040998
| 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
|
| SMART Domains |
Protein: ENSMUSP00000040684
Gene: ENSMUSG00000040998
| 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
|
| SMART Domains |
Protein: ENSMUSP00000091505
Gene: ENSMUSG00000040998
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113419
Gene: ENSMUSG00000040998
| 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 null
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
|
| SMART Domains |
Protein: ENSMUSP00000113752
Gene: ENSMUSG00000040998
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (58/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
A |
C |
11: 58,182,273 (GRCm39) |
Y216S |
|
Het |
| Anpep |
G |
T |
7: 79,488,398 (GRCm39) |
S477R |
possibly damaging |
Het |
| Atp7b |
T |
C |
8: 22,487,515 (GRCm39) |
D1293G |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,774,565 (GRCm39) |
V249A |
probably benign |
Het |
| Cep41 |
C |
T |
6: 30,693,655 (GRCm39) |
R5K |
probably benign |
Het |
| Cyp2c23 |
A |
T |
19: 44,010,176 (GRCm39) |
|
probably null |
Het |
| Dazap2 |
T |
A |
15: 100,514,824 (GRCm39) |
V15E |
possibly damaging |
Het |
| Ecpas |
A |
T |
4: 58,824,770 (GRCm39) |
D1070E |
probably benign |
Het |
| Epha8 |
T |
A |
4: 136,661,849 (GRCm39) |
H582L |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,643,074 (GRCm39) |
T1513A |
possibly damaging |
Het |
| Fancd2 |
T |
C |
6: 113,545,670 (GRCm39) |
V901A |
probably benign |
Het |
| Fbl |
T |
A |
7: 27,878,360 (GRCm39) |
V284E |
probably damaging |
Het |
| Fbln2 |
A |
G |
6: 91,246,955 (GRCm39) |
E1065G |
probably damaging |
Het |
| Fbxw16 |
A |
G |
9: 109,278,103 (GRCm39) |
V25A |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,852,185 (GRCm39) |
T1236I |
possibly damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,839,704 (GRCm39) |
S506P |
possibly damaging |
Het |
| Gm11562 |
T |
G |
11: 99,511,195 (GRCm39) |
T2P |
unknown |
Het |
| Gm17728 |
G |
T |
17: 9,640,955 (GRCm39) |
G22W |
probably damaging |
Het |
| Gm30083 |
A |
G |
14: 33,721,537 (GRCm39) |
Y190H |
probably benign |
Het |
| Gm6793 |
T |
A |
8: 112,741,561 (GRCm39) |
D27V |
probably damaging |
Het |
| Gm7324 |
A |
G |
14: 43,952,134 (GRCm39) |
D259G |
probably benign |
Het |
| Gtf2a1l |
G |
A |
17: 89,001,531 (GRCm39) |
G129D |
probably damaging |
Het |
| Ildr2 |
T |
A |
1: 166,122,166 (GRCm39) |
V203E |
probably damaging |
Het |
| Ipo4 |
C |
T |
14: 55,872,988 (GRCm39) |
R23Q |
probably benign |
Het |
| Irx5 |
A |
G |
8: 93,086,183 (GRCm39) |
T89A |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,776,798 (GRCm39) |
N221S |
possibly damaging |
Het |
| Lpcat2 |
T |
C |
8: 93,602,195 (GRCm39) |
W259R |
probably damaging |
Het |
| Lrrc8e |
C |
T |
8: 4,284,815 (GRCm39) |
R347C |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,881,140 (GRCm39) |
D2790E |
probably benign |
Het |
| Magi2 |
G |
A |
5: 20,755,238 (GRCm39) |
R604Q |
probably benign |
Het |
| Mertk |
C |
A |
2: 128,613,417 (GRCm39) |
H478N |
probably benign |
Het |
| Mical3 |
T |
A |
6: 121,013,505 (GRCm39) |
K293* |
probably null |
Het |
| Nod2 |
T |
C |
8: 89,387,210 (GRCm39) |
L168P |
probably damaging |
Het |
| Or1x6 |
T |
G |
11: 50,939,122 (GRCm39) |
F63V |
probably damaging |
Het |
| Or5af1 |
A |
T |
11: 58,722,308 (GRCm39) |
E109D |
probably damaging |
Het |
| Or8b37 |
T |
C |
9: 37,959,253 (GRCm39) |
M245T |
probably benign |
Het |
| Or9g4 |
A |
T |
2: 85,505,275 (GRCm39) |
Y73* |
probably null |
Het |
| Plcd4 |
A |
T |
1: 74,593,811 (GRCm39) |
D312V |
probably damaging |
Het |
| Prss58 |
A |
G |
6: 40,872,399 (GRCm39) |
I208T |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,438,498 (GRCm39) |
S116P |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,205,276 (GRCm39) |
I93N |
probably benign |
Het |
| Rftn2 |
A |
C |
1: 55,265,311 (GRCm39) |
Y36* |
probably null |
Het |
| Rp1l1 |
G |
A |
14: 64,267,069 (GRCm39) |
R885Q |
probably benign |
Het |
| Rpgrip1 |
A |
T |
14: 52,378,116 (GRCm39) |
D488V |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,444,893 (GRCm39) |
Y2313C |
possibly damaging |
Het |
| Scrib |
T |
C |
15: 75,921,107 (GRCm39) |
Y1332C |
probably damaging |
Het |
| Serpinb10 |
T |
C |
1: 107,468,672 (GRCm39) |
V105A |
probably damaging |
Het |
| Slc35d1 |
A |
T |
4: 103,070,243 (GRCm39) |
|
probably null |
Het |
| Slfn3 |
T |
C |
11: 83,103,648 (GRCm39) |
V173A |
probably benign |
Het |
| Smpd3 |
C |
T |
8: 106,991,825 (GRCm39) |
V243M |
probably damaging |
Het |
| Stard9 |
A |
T |
2: 120,535,167 (GRCm39) |
D3808V |
possibly damaging |
Het |
| Supt16 |
A |
T |
14: 52,411,028 (GRCm39) |
V692D |
probably damaging |
Het |
| Tapt1 |
A |
T |
5: 44,345,999 (GRCm39) |
V317E |
probably damaging |
Het |
| Vmn2r101 |
T |
C |
17: 19,832,059 (GRCm39) |
I685T |
probably benign |
Het |
| Vmn2r92 |
A |
G |
17: 18,387,513 (GRCm39) |
I173V |
probably benign |
Het |
| Vps54 |
T |
C |
11: 21,224,999 (GRCm39) |
I165T |
probably damaging |
Het |
| Zswim4 |
G |
A |
8: 84,950,327 (GRCm39) |
R628* |
probably null |
Het |
| Zzz3 |
T |
C |
3: 152,157,736 (GRCm39) |
S770P |
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 |
|
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'- CAGTGCTCTGTTTCCTGCAG -3'
(R):5'- ACACCTATTGTTGGACACGTG -3'
Sequencing Primer
(F):5'- CCTGCAGGGTTTTTGCAC -3'
(R):5'- ACACGAGTTACAGATGTTTTCTTCC -3'
|
| Posted On |
2019-10-14 |
Incidental Mutation