Incidental Mutation 'R1773:Npnt'
ID 196793
Institutional Source Beutler Lab
Gene Symbol Npnt
Ensembl Gene ENSMUSG00000040998
Gene Name nephronectin
Synonyms 1110009H02Rik, POEM
MMRRC Submission 039804-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R1773 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 132881745-132950291 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132904693 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 423 (Q423L)
Ref Sequence ENSEMBL: ENSMUSP00000091505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042729] [ENSMUST00000042744] [ENSMUST00000093971] [ENSMUST00000117164] [ENSMUST00000117456] [ENSMUST00000117811]
AlphaFold Q91V88
Predicted Effect possibly damaging
Transcript: ENSMUST00000042729
AA Change: Q392L

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000040071
Gene: ENSMUSG00000040998
AA Change: Q392L

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000042744
AA Change: Q375L

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040684
Gene: ENSMUSG00000040998
AA Change: Q375L

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000093971
AA Change: Q423L

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000091505
Gene: ENSMUSG00000040998
AA Change: Q423L

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000117164
AA Change: Q406L

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113419
Gene: ENSMUSG00000040998
AA Change: Q406L

DomainStartEndE-ValueType
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
AA Change: Q271L

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112816
Gene: ENSMUSG00000040998
AA Change: Q271L

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000117811
AA Change: Q375L

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113752
Gene: ENSMUSG00000040998
AA Change: Q375L

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132732
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,580,595 (GRCm38) K334E probably damaging Het
Abca12 A G 1: 71,288,596 (GRCm38) Y1442H probably damaging Het
Acot12 A G 13: 91,757,557 (GRCm38) T79A probably benign Het
Adipoq A C 16: 23,155,238 (GRCm38) Q26P unknown Het
Afg2a T C 3: 37,439,185 (GRCm38) F515L probably damaging Het
Akap13 T A 7: 75,683,451 (GRCm38) N1582K possibly damaging Het
Alg9 A G 9: 50,779,096 (GRCm38) T133A probably benign Het
Anks3 T C 16: 4,947,294 (GRCm38) T418A probably benign Het
Ano3 A C 2: 110,761,455 (GRCm38) L37R probably damaging Het
Ano9 A G 7: 141,108,378 (GRCm38) F178L possibly damaging Het
Arhgef12 A G 9: 43,005,542 (GRCm38) probably null Het
Arl16 T A 11: 120,465,763 (GRCm38) I137F possibly damaging Het
Brpf1 T A 6: 113,319,931 (GRCm38) S959T possibly damaging Het
Ccdc27 C T 4: 154,041,765 (GRCm38) R89Q unknown Het
Cd109 A C 9: 78,703,724 (GRCm38) Q1207H probably benign Het
Cd14 A T 18: 36,725,304 (GRCm38) V366D possibly damaging Het
Cep290 G A 10: 100,510,573 (GRCm38) V538I probably benign Het
Cep57 G A 9: 13,816,068 (GRCm38) A202V probably damaging Het
Chl1 T C 6: 103,647,331 (GRCm38) probably null Het
Cmah T G 13: 24,417,299 (GRCm38) F29L probably benign Het
Cracd G T 5: 76,867,205 (GRCm38) A42S possibly damaging Het
Crybg1 A G 10: 43,992,548 (GRCm38) V1378A possibly damaging Het
Cryzl2 A G 1: 157,470,722 (GRCm38) K227R probably benign Het
D130043K22Rik T G 13: 24,882,602 (GRCm38) V794G possibly damaging Het
Ddx4 T A 13: 112,599,902 (GRCm38) T645S probably benign Het
Dhcr7 C T 7: 143,847,458 (GRCm38) R453C possibly damaging Het
Dhx8 T C 11: 101,752,363 (GRCm38) Y754H possibly damaging Het
Dip2b T A 15: 100,193,961 (GRCm38) D860E probably benign Het
Dnah7a T C 1: 53,432,887 (GRCm38) probably null Het
Dst A G 1: 34,291,899 (GRCm38) D6937G probably damaging Het
Dusp1 A G 17: 26,507,107 (GRCm38) I204T probably damaging Het
Dync2h1 T A 9: 7,128,256 (GRCm38) Q1859L probably damaging Het
E4f1 C A 17: 24,446,584 (GRCm38) G328V probably damaging Het
Eml5 T C 12: 98,798,839 (GRCm38) Y1617C probably damaging Het
Espn G T 4: 152,128,229 (GRCm38) P622Q probably damaging Het
Fam184b G A 5: 45,584,334 (GRCm38) P185L possibly damaging Het
Fn1 T A 1: 71,637,383 (GRCm38) D563V probably damaging Het
Gad2 A G 2: 22,690,207 (GRCm38) Y540C probably benign Het
Garin1b T C 6: 29,334,153 (GRCm38) S335P possibly damaging Het
Gdf11 T C 10: 128,891,294 (GRCm38) D131G probably damaging Het
Gm19965 T A 1: 116,821,259 (GRCm38) Y223* probably null Het
H2-M10.6 A G 17: 36,812,184 (GRCm38) K3R probably benign Het
Hid1 A G 11: 115,348,510 (GRCm38) Y776H probably damaging Het
Hivep3 A T 4: 120,098,837 (GRCm38) K1450I probably damaging Het
Icam5 T C 9: 21,033,525 (GRCm38) L128P possibly damaging Het
Idnk T C 13: 58,157,712 (GRCm38) V9A probably damaging Het
Il4ra A T 7: 125,567,182 (GRCm38) T33S possibly damaging Het
Ino80 A G 2: 119,418,409 (GRCm38) V990A probably benign Het
Krtap4-9 T C 11: 99,785,570 (GRCm38) probably benign Het
Lrrk2 A G 15: 91,779,981 (GRCm38) I1974V possibly damaging Het
Mcm3ap C T 10: 76,471,160 (GRCm38) A369V probably benign Het
Nek6 A G 2: 38,582,419 (GRCm38) M252V probably benign Het
Nfasc T A 1: 132,610,839 (GRCm38) I443F probably damaging Het
Nme8 T G 13: 19,697,036 (GRCm38) M1L probably damaging Het
Nup133 A T 8: 123,930,983 (GRCm38) C404* probably null Het
Or2b7 T C 13: 21,555,812 (GRCm38) D70G probably damaging Het
Or4c124 A G 2: 89,325,742 (GRCm38) V146A probably benign Het
Or4f14b A G 2: 111,944,859 (GRCm38) V199A possibly damaging Het
Or56a4 T C 7: 105,156,983 (GRCm38) E233G probably benign Het
Or5an1c T C 19: 12,241,659 (GRCm38) M1V probably null Het
Or6c213 A G 10: 129,738,443 (GRCm38) L158S probably damaging Het
Otog T A 7: 46,288,159 (GRCm38) I1764N probably benign Het
Oxa1l A G 14: 54,363,452 (GRCm38) I127M probably benign Het
P4hb C A 11: 120,572,726 (GRCm38) V28F probably damaging Het
Pbld2 C T 10: 63,054,371 (GRCm38) A186V probably benign Het
Pdzph1 G T 17: 58,974,813 (GRCm38) T158K probably damaging Het
Pgm1 T A 5: 64,107,851 (GRCm38) probably null Het
Phip A T 9: 82,876,189 (GRCm38) S1484T probably benign Het
Pikfyve T C 1: 65,192,271 (GRCm38) L100P probably damaging Het
Pikfyve T C 1: 65,246,370 (GRCm38) S923P probably benign Het
Pla2g4e A G 2: 120,244,721 (GRCm38) S63P probably benign Het
Plekhh2 A G 17: 84,599,265 (GRCm38) E1176G probably damaging Het
Prlr T A 15: 10,325,318 (GRCm38) Y192* probably null Het
Pten T A 19: 32,798,072 (GRCm38) C71S probably damaging Het
Rbbp8nl A G 2: 180,281,194 (GRCm38) L202P probably benign Het
Ripor2 T A 13: 24,701,254 (GRCm38) S491T probably benign Het
Robo1 A T 16: 73,004,511 (GRCm38) I1008F probably benign Het
Scg2 T C 1: 79,435,635 (GRCm38) N417S probably benign Het
Scn8a A G 15: 101,039,615 (GRCm38) I1581V probably damaging Het
Slc22a8 T A 19: 8,594,229 (GRCm38) I108N probably damaging Het
Slc9a8 A T 2: 167,471,465 (GRCm38) T416S possibly damaging Het
Spata32 T A 11: 103,208,818 (GRCm38) E287V probably damaging Het
Tgfbrap1 C T 1: 43,075,352 (GRCm38) G196D probably damaging Het
Tgm5 G T 2: 121,077,650 (GRCm38) T15K possibly damaging Het
Tmc1 C T 19: 20,826,501 (GRCm38) probably null Het
Tmem177 T C 1: 119,910,576 (GRCm38) I124M possibly damaging Het
Trim30a A G 7: 104,435,901 (GRCm38) F34S probably damaging Het
Tsn T C 1: 118,305,239 (GRCm38) T112A probably benign Het
Tspyl5 T G 15: 33,686,776 (GRCm38) N341T probably benign Het
Vmn2r108 C T 17: 20,469,073 (GRCm38) C540Y probably damaging Het
Vrtn C T 12: 84,650,224 (GRCm38) R583W probably damaging Het
Wnt1 T C 15: 98,791,757 (GRCm38) S142P probably damaging Het
Wrn A T 8: 33,343,561 (GRCm38) I108N probably damaging Het
Zfhx2 A C 14: 55,072,891 (GRCm38) C733G possibly damaging Het
Zfp219 T C 14: 52,007,106 (GRCm38) T539A probably damaging Het
Zswim8 T A 14: 20,711,530 (GRCm38) M177K probably damaging Het
Other mutations in Npnt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00731:Npnt APN 3 132,904,657 (GRCm38) critical splice donor site probably null
IGL01457:Npnt APN 3 132,885,982 (GRCm38) missense probably damaging 1.00
IGL01954:Npnt APN 3 132,909,963 (GRCm38) missense probably damaging 1.00
IGL01999:Npnt APN 3 132,908,399 (GRCm38) missense probably damaging 1.00
IGL02012:Npnt APN 3 132,908,397 (GRCm38) missense probably damaging 1.00
IGL02025:Npnt APN 3 132,890,762 (GRCm38) critical splice donor site probably null
IGL02637:Npnt APN 3 132,884,510 (GRCm38) missense possibly damaging 0.90
R0234:Npnt UTSW 3 132,914,414 (GRCm38) missense possibly damaging 0.82
R0234:Npnt UTSW 3 132,914,414 (GRCm38) missense possibly damaging 0.82
R1680:Npnt UTSW 3 132,906,802 (GRCm38) missense probably benign 0.00
R1729:Npnt UTSW 3 132,914,397 (GRCm38) nonsense probably null
R1980:Npnt UTSW 3 132,948,132 (GRCm38) missense probably benign 0.04
R1982:Npnt UTSW 3 132,948,132 (GRCm38) missense probably benign 0.04
R2338:Npnt UTSW 3 132,891,409 (GRCm38) missense probably damaging 1.00
R3800:Npnt UTSW 3 132,906,763 (GRCm38) missense probably damaging 1.00
R4739:Npnt UTSW 3 132,904,691 (GRCm38) missense possibly damaging 0.93
R4790:Npnt UTSW 3 132,890,762 (GRCm38) critical splice donor site probably benign
R5008:Npnt UTSW 3 132,906,457 (GRCm38) missense probably damaging 1.00
R5446:Npnt UTSW 3 132,908,369 (GRCm38) missense probably damaging 1.00
R5471:Npnt UTSW 3 132,914,387 (GRCm38) missense probably benign 0.05
R5538:Npnt UTSW 3 132,904,963 (GRCm38) missense probably damaging 1.00
R5673:Npnt UTSW 3 132,917,497 (GRCm38) missense probably damaging 0.97
R5683:Npnt UTSW 3 132,906,840 (GRCm38) splice site probably null
R5827:Npnt UTSW 3 132,906,775 (GRCm38) missense possibly damaging 0.89
R5857:Npnt UTSW 3 132,908,349 (GRCm38) missense probably damaging 1.00
R5910:Npnt UTSW 3 132,906,418 (GRCm38) missense probably damaging 1.00
R6208:Npnt UTSW 3 132,950,013 (GRCm38) unclassified probably benign
R6358:Npnt UTSW 3 132,904,718 (GRCm38) missense probably benign 0.18
R6875:Npnt UTSW 3 132,909,910 (GRCm38) missense probably damaging 1.00
R7025:Npnt UTSW 3 132,908,396 (GRCm38) missense probably damaging 1.00
R7145:Npnt UTSW 3 132,909,931 (GRCm38) missense probably benign 0.01
R7166:Npnt UTSW 3 132,948,128 (GRCm38) missense probably damaging 1.00
R7287:Npnt UTSW 3 132,906,802 (GRCm38) missense probably benign 0.00
R7344:Npnt UTSW 3 132,908,339 (GRCm38) splice site probably null
R8344:Npnt UTSW 3 132,908,456 (GRCm38) missense probably damaging 1.00
R8717:Npnt UTSW 3 132,908,375 (GRCm38) missense probably damaging 1.00
R8873:Npnt UTSW 3 132,950,055 (GRCm38) start gained probably benign
R8903:Npnt UTSW 3 132,886,003 (GRCm38) missense probably damaging 1.00
R9414:Npnt UTSW 3 132,906,355 (GRCm38) missense probably benign 0.00
R9420:Npnt UTSW 3 132,948,105 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTGTAAGAGTCCTCCCGACCTACAC -3'
(R):5'- AAGTACAAGGTGGCCCCTGAAGAC -3'

Sequencing Primer
(F):5'- gctgaagagatggcttggtg -3'
(R):5'- TGAAGACACCATATATTCCTCCTG -3'
Posted On 2014-05-23