Incidental Mutation 'R5910:Npnt'
ID 460905
Institutional Source Beutler Lab
Gene Symbol Npnt
Ensembl Gene ENSMUSG00000040998
Gene Name nephronectin
Synonyms POEM, 1110009H02Rik
MMRRC Submission 044107-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R5910 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 132587506-132656052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 132612179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 231 (C231F)
Ref Sequence ENSEMBL: ENSMUSP00000113752 (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: C248F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040071
Gene: ENSMUSG00000040998
AA Change: C248F

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 damaging
Transcript: ENSMUST00000042744
AA Change: C231F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040684
Gene: ENSMUSG00000040998
AA Change: C231F

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 probably damaging
Transcript: ENSMUST00000093971
AA Change: C279F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091505
Gene: ENSMUSG00000040998
AA Change: C279F

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 probably damaging
Transcript: ENSMUST00000117164
AA Change: C262F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113419
Gene: ENSMUSG00000040998
AA Change: C262F

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 damaging
Transcript: ENSMUST00000117456
AA Change: C127F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112816
Gene: ENSMUSG00000040998
AA Change: C127F

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 damaging
Transcript: ENSMUST00000117811
AA Change: C231F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113752
Gene: ENSMUSG00000040998
AA Change: C231F

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
Meta Mutation Damage Score 0.9737 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 95% (93/98)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,645,076 (GRCm39) N976D probably damaging Het
Adamts1 G A 16: 85,599,037 (GRCm39) R188W probably benign Het
Adcy4 A T 14: 56,016,470 (GRCm39) V327D probably damaging Het
Alg8 T C 7: 97,039,493 (GRCm39) I408T possibly damaging Het
Ankib1 T C 5: 3,743,217 (GRCm39) S933G probably benign Het
Ap2a2 A G 7: 141,178,691 (GRCm39) D106G probably damaging Het
Arhgap22 A T 14: 33,088,572 (GRCm39) H351L probably damaging Het
Arhgef2 A G 3: 88,542,327 (GRCm39) Y310C probably damaging Het
Atm A T 9: 53,359,380 (GRCm39) S2804R probably damaging Het
Baz2b A G 2: 59,807,770 (GRCm39) L163P possibly damaging Het
Bcl2l12 C T 7: 44,645,967 (GRCm39) probably null Het
Cdh23 A G 10: 60,213,600 (GRCm39) V1495A possibly damaging Het
Cep78 A G 19: 15,946,492 (GRCm39) S447P possibly damaging Het
Cfap43 G A 19: 47,768,710 (GRCm39) T778I possibly damaging Het
Cfap54 A T 10: 92,901,043 (GRCm39) N170K probably damaging Het
Cmya5 A T 13: 93,229,151 (GRCm39) L1979Q probably damaging Het
Col15a1 A T 4: 47,289,514 (GRCm39) E846D probably damaging Het
Col5a1 A G 2: 27,926,900 (GRCm39) K308E possibly damaging Het
Dcst1 T A 3: 89,257,731 (GRCm39) T680S possibly damaging Het
Dsp T C 13: 38,376,445 (GRCm39) L1410P possibly damaging Het
Edem3 T A 1: 151,646,578 (GRCm39) probably null Het
Efcab3 A T 11: 104,581,760 (GRCm39) E34V probably benign Het
Eif4e2 T A 1: 87,148,696 (GRCm39) Y64N probably damaging Het
Fcgbp C T 7: 27,784,928 (GRCm39) probably benign Het
Gm7275 A T 16: 47,893,826 (GRCm39) noncoding transcript Het
Grin3b G T 10: 79,808,855 (GRCm39) V202L probably benign Het
Gsdmc4 G A 15: 63,767,101 (GRCm39) S223F possibly damaging Het
H2bc14 A G 13: 21,906,470 (GRCm39) N68S probably benign Het
Hbp1 T C 12: 31,987,651 (GRCm39) H183R probably benign Het
Hectd3 A G 4: 116,859,331 (GRCm39) M652V probably benign Het
Hmgxb4 T C 8: 75,726,193 (GRCm39) F13L probably benign Het
Hnrnpab T C 11: 51,492,281 (GRCm39) K271R probably benign Het
Ilvbl A T 10: 78,412,947 (GRCm39) K156N probably benign Het
Iqce A T 5: 140,687,973 (GRCm39) probably benign Het
Itpr2 C A 6: 146,231,069 (GRCm39) V1194L probably benign Het
Kif18b A G 11: 102,804,370 (GRCm39) F384L probably benign Het
Klf14 A G 6: 30,934,774 (GRCm39) Y287H probably benign Het
Klhl6 A G 16: 19,775,844 (GRCm39) M238T probably benign Het
Lbp G A 2: 158,166,477 (GRCm39) V344I probably benign Het
Lrp12 T C 15: 39,739,439 (GRCm39) probably null Het
Mapk7 T A 11: 61,384,447 (GRCm39) M1L probably benign Het
Muc5b A G 7: 141,415,048 (GRCm39) T2665A possibly damaging Het
Ncln A T 10: 81,331,912 (GRCm39) probably null Het
Nfxl1 T C 5: 72,697,708 (GRCm39) R347G probably benign Het
Nrap T A 19: 56,330,743 (GRCm39) H1070L probably benign Het
Nrxn1 G T 17: 91,011,746 (GRCm39) Y294* probably null Het
Or4c126 A G 2: 89,823,782 (GRCm39) D15G probably benign Het
Or9s27 T C 1: 92,516,429 (GRCm39) Y126H probably damaging Het
Otog A G 7: 45,948,022 (GRCm39) H2341R possibly damaging Het
Paqr3 T C 5: 97,243,887 (GRCm39) probably null Het
Pcdhb11 T C 18: 37,556,796 (GRCm39) F709L probably benign Het
Phf12 G A 11: 77,918,224 (GRCm39) R812Q probably damaging Het
Polr2a A T 11: 69,637,696 (GRCm39) L216Q probably damaging Het
Polrmt A G 10: 79,579,331 (GRCm39) L140P probably benign Het
Pou2f3 C T 9: 43,045,769 (GRCm39) probably null Het
Prkcd A T 14: 30,317,938 (GRCm39) N548K probably benign Het
Pygb A G 2: 150,657,620 (GRCm39) D361G probably benign Het
Rpl9 A T 5: 65,546,044 (GRCm39) probably benign Het
Rubcnl A T 14: 75,272,912 (GRCm39) T211S probably benign Het
Rusc1 C T 3: 88,999,027 (GRCm39) G252S probably benign Het
Scnn1g A G 7: 121,337,318 (GRCm39) T60A probably damaging Het
Sipa1l2 T G 8: 126,218,423 (GRCm39) T305P probably benign Het
Slc18b1 T A 10: 23,700,565 (GRCm39) probably benign Het
Sp100 G A 1: 85,608,861 (GRCm39) probably null Het
Tekt5 A T 16: 10,205,017 (GRCm39) probably null Het
Tlnrd1 T A 7: 83,533,693 (GRCm39) probably benign Het
Tpcn1 A G 5: 120,685,462 (GRCm39) probably benign Het
Tpcn2 T C 7: 144,814,719 (GRCm39) I461V probably benign Het
Traf3ip1 A G 1: 91,455,467 (GRCm39) K643E probably damaging Het
Trim33 T C 3: 103,251,892 (GRCm39) C914R probably damaging Het
Trip11 G A 12: 101,849,738 (GRCm39) T1442I probably damaging Het
Ttll6 A G 11: 96,026,415 (GRCm39) M107V possibly damaging Het
Uap1l1 A G 2: 25,253,445 (GRCm39) probably benign Het
Ube3b T A 5: 114,553,370 (GRCm39) I914N possibly damaging Het
Usp24 A G 4: 106,237,665 (GRCm39) T1107A probably damaging Het
Usp40 A T 1: 87,896,122 (GRCm39) C811* probably null Het
Vps11 T C 9: 44,270,432 (GRCm39) probably null Het
Wdr91 A T 6: 34,868,422 (GRCm39) I433N possibly damaging Het
Zfp770 G C 2: 114,026,713 (GRCm39) S452* probably null 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
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
R9420:Npnt UTSW 3 132,653,866 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CGCCTTCAATAACCAATTGTGTCC -3'
(R):5'- AAGTCTCCAGCTGTGGTCAC -3'

Sequencing Primer
(F):5'- CAATAACCAATTGTGTCCCTCATC -3'
(R):5'- CAGTTGGACTGTCGGGAC -3'
Posted On 2017-02-28