Incidental Mutation 'R6208:Npnt'
ID 503249
Institutional Source Beutler Lab
Gene Symbol Npnt
Ensembl Gene ENSMUSG00000040998
Gene Name nephronectin
Synonyms POEM, 1110009H02Rik
MMRRC Submission 044342-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R6208 (G1)
Quality Score 167.009
Status Validated
Chromosome 3
Chromosomal Location 132587506-132656052 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 132655774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042729] [ENSMUST00000042744] [ENSMUST00000093971] [ENSMUST00000117164] [ENSMUST00000117456] [ENSMUST00000117811]
AlphaFold Q91V88
Predicted Effect unknown
Transcript: ENSMUST00000042729
AA Change: S11P
SMART Domains Protein: ENSMUSP00000040071
Gene: ENSMUSG00000040998
AA Change: S11P

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 unknown
Transcript: ENSMUST00000042744
AA Change: S11P
SMART Domains Protein: ENSMUSP00000040684
Gene: ENSMUSG00000040998
AA Change: S11P

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 unknown
Transcript: ENSMUST00000093971
AA Change: S11P
SMART Domains Protein: ENSMUSP00000091505
Gene: ENSMUSG00000040998
AA Change: S11P

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 unknown
Transcript: ENSMUST00000117164
AA Change: S11P
SMART Domains Protein: ENSMUSP00000113419
Gene: ENSMUSG00000040998
AA Change: S11P

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
SMART Domains Protein: ENSMUSP00000112816
Gene: ENSMUSG00000040998

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 unknown
Transcript: ENSMUST00000117811
AA Change: S11P
SMART Domains Protein: ENSMUSP00000113752
Gene: ENSMUSG00000040998
AA Change: S11P

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
Meta Mutation Damage Score 0.0859 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (57/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A T 3: 32,766,043 (GRCm39) I18F probably benign Het
Apol11a C T 15: 77,401,241 (GRCm39) R243C probably damaging Het
Asap3 A G 4: 135,968,508 (GRCm39) M687V probably benign Het
Axdnd1 C T 1: 156,220,426 (GRCm39) probably benign Het
Baz2b A G 2: 59,755,150 (GRCm39) F1026S probably damaging Het
Bsg T C 10: 79,544,672 (GRCm39) L70P probably damaging Het
Col10a1 A G 10: 34,270,582 (GRCm39) N185D possibly damaging Het
Col6a2 T A 10: 76,450,891 (GRCm39) N50I possibly damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Defa25 A G 8: 21,575,197 (GRCm39) probably null Het
Emc1 G T 4: 139,081,582 (GRCm39) R70L probably damaging Het
Fat1 T C 8: 45,480,650 (GRCm39) F3028S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm20830 T G Y: 6,916,792 (GRCm39) E109A probably benign Homo
Grm1 A T 10: 10,595,690 (GRCm39) F646Y probably damaging Het
Hp1bp3 A G 4: 137,944,481 (GRCm39) probably benign Het
Lce1d G A 3: 92,593,312 (GRCm39) P34S unknown Het
Lpar1 G A 4: 58,504,630 (GRCm39) Q13* probably null Het
Lrrc61 C T 6: 48,545,839 (GRCm39) R221* probably null Het
Map2 A G 1: 66,470,749 (GRCm39) N328D probably damaging Het
Mndal T A 1: 173,684,988 (GRCm39) D527V possibly damaging Het
Mycbp2 T G 14: 103,532,664 (GRCm39) N430T probably benign Het
Myo1e A G 9: 70,283,887 (GRCm39) Y861C probably damaging Het
Nav2 A G 7: 49,213,851 (GRCm39) T1622A probably damaging Het
Nom1 A T 5: 29,654,617 (GRCm39) H773L possibly damaging Het
Npc2 G T 12: 84,803,919 (GRCm39) P144Q probably damaging Het
Nxpe4 A T 9: 48,304,678 (GRCm39) Y255F probably benign Het
Obscn G A 11: 58,958,474 (GRCm39) A3769V possibly damaging Het
Optc T C 1: 133,832,737 (GRCm39) D121G probably damaging Het
Pard6a T C 8: 106,428,866 (GRCm39) F26L probably damaging Het
Pcdhga4 T A 18: 37,819,762 (GRCm39) I437N probably damaging Het
Phf12 G T 11: 77,914,417 (GRCm39) V71F probably damaging Het
Phf21b T A 15: 84,679,317 (GRCm39) S282C probably damaging Het
Pou5f1 T C 17: 35,821,357 (GRCm39) F323S possibly damaging Het
Psmd5 A T 2: 34,757,023 (GRCm39) I67N probably damaging Het
Pyroxd1 A G 6: 142,303,182 (GRCm39) K273R probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpusd1 A T 17: 25,949,352 (GRCm39) H174L probably damaging Het
Ryr2 T C 13: 11,910,106 (GRCm39) K94R probably benign Het
Scn2b A G 9: 45,029,328 (GRCm39) R3G probably benign Het
Sf3b2 A T 19: 5,325,126 (GRCm39) M782K possibly damaging Het
Skint7 A G 4: 111,842,073 (GRCm39) probably null Het
Slc43a1 A G 2: 84,687,184 (GRCm39) I319V possibly damaging Het
Snupn T A 9: 56,890,247 (GRCm39) M356K probably damaging Het
Spata31d1a C A 13: 59,848,378 (GRCm39) R1250M probably damaging Het
Sprr2h T C 3: 92,294,216 (GRCm39) V21A unknown Het
Srpra A G 9: 35,127,291 (GRCm39) T614A possibly damaging Het
Stk36 A T 1: 74,650,591 (GRCm39) Q327L probably benign Het
Syne3 A G 12: 104,909,622 (GRCm39) I738T probably benign Het
Tcea3 A T 4: 135,975,360 (GRCm39) M1L probably damaging Het
Tead2 G T 7: 44,867,526 (GRCm39) R85L probably damaging Het
Thap7 T C 16: 17,346,300 (GRCm39) N228D possibly damaging Het
Trip11 T A 12: 101,865,154 (GRCm39) E173V probably damaging Het
Ttc38 T A 15: 85,725,698 (GRCm39) M187K possibly damaging Het
Vmn1r193 T A 13: 22,403,138 (GRCm39) T285S possibly damaging Het
Vmn2r106 T C 17: 20,488,591 (GRCm39) T603A probably damaging Het
Vps39 A T 2: 120,163,897 (GRCm39) M355K probably damaging Het
Wnt5b G T 6: 119,423,473 (GRCm39) L51I probably damaging Het
Xxylt1 A G 16: 30,826,626 (GRCm39) Y230H probably benign Het
Other mutations in Npnt
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9420:Npnt UTSW 3 132,653,866 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCCTGATCACTGGCTGTAGG -3'
(R):5'- GAACGCGTACTTCCACTTCC -3'

Sequencing Primer
(F):5'- ATCACTGGCTGTAGGGACGC -3'
(R):5'- TTTTCAGGCAGGTCACCCGAC -3'
Posted On 2018-02-27