Incidental Mutation 'R6189:Nup42'
ID 502369
Institutional Source Beutler Lab
Gene Symbol Nup42
Ensembl Gene ENSMUSG00000048439
Gene Name nucleoporin 42
Synonyms Nupl2, CG1
MMRRC Submission 044329-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.907) question?
Stock # R6189 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 24369961-24389011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 24380452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 149 (G149V)
Ref Sequence ENSEMBL: ENSMUSP00000062766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049887] [ENSMUST00000115101]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000049887
AA Change: G149V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062766
Gene: ENSMUSG00000048439
AA Change: G149V

DomainStartEndE-ValueType
Blast:ZnF_C3H1 1 22 2e-10 BLAST
low complexity region 23 41 N/A INTRINSIC
coiled coil region 174 195 N/A INTRINSIC
low complexity region 266 287 N/A INTRINSIC
low complexity region 305 322 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115101
SMART Domains Protein: ENSMUSP00000110753
Gene: ENSMUSG00000048439

DomainStartEndE-ValueType
Blast:ZnF_C3H1 1 22 3e-9 BLAST
low complexity region 23 41 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124150
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (74/76)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,474,222 (GRCm39) probably benign Het
Abca8a T C 11: 109,921,710 (GRCm39) D1448G probably damaging Het
Actn2 C T 13: 12,291,326 (GRCm39) D693N probably damaging Het
Adam3 A C 8: 25,201,352 (GRCm39) I267R probably benign Het
Aldh1l2 A G 10: 83,343,877 (GRCm39) probably null Het
C4bp T C 1: 130,564,556 (GRCm39) Y376C probably damaging Het
Cacna1h A G 17: 25,616,818 (GRCm39) W101R probably damaging Het
Ccdc97 T A 7: 25,415,523 (GRCm39) T47S probably benign Het
Cenatac G A 9: 44,321,618 (GRCm39) R328C probably benign Het
Cnot6l G A 5: 96,246,136 (GRCm39) T171I probably benign Het
Cntnap2 T A 6: 47,248,232 (GRCm39) S1213T probably damaging Het
Cxcl10 A T 5: 92,495,972 (GRCm39) L55Q probably benign Het
Cyp1a1 T C 9: 57,607,966 (GRCm39) V198A probably damaging Het
Dclre1b A G 3: 103,710,849 (GRCm39) V354A probably damaging Het
Dmxl1 C T 18: 50,026,402 (GRCm39) H1837Y probably benign Het
Dnajc13 G C 9: 104,091,085 (GRCm39) D665E probably benign Het
Dnmbp T C 19: 43,878,748 (GRCm39) T108A probably benign Het
Dnmbp T A 19: 43,889,950 (GRCm39) T606S probably benign Het
Dok5 T A 2: 170,642,771 (GRCm39) I23N probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epha5 A T 5: 84,385,399 (GRCm39) F311I probably damaging Het
Erbb4 T A 1: 68,083,075 (GRCm39) M1059L probably benign Het
Fbxo40 A G 16: 36,786,526 (GRCm39) I681T probably benign Het
Flg2 T A 3: 93,127,381 (GRCm39) C2098S unknown Het
Gpr87 T A 3: 59,086,650 (GRCm39) D285V probably damaging Het
Hrh1 T A 6: 114,456,959 (GRCm39) V80D probably damaging Het
Hunk G A 16: 90,284,769 (GRCm39) R351K probably benign Het
Ifna12 A G 4: 88,521,248 (GRCm39) W100R probably damaging Het
Ift57 G A 16: 49,584,176 (GRCm39) G310S probably damaging Het
Igf1r T A 7: 67,857,084 (GRCm39) Y1015* probably null Het
Igkv14-130 T C 6: 67,768,432 (GRCm39) I96T probably damaging Het
Il34 C T 8: 111,469,350 (GRCm39) S155N probably benign Het
Itga7 T C 10: 128,786,272 (GRCm39) S938P possibly damaging Het
Itgam A G 7: 127,711,676 (GRCm39) M764V probably benign Het
Lao1 T A 4: 118,825,077 (GRCm39) M299K probably benign Het
Lnpep A T 17: 17,787,001 (GRCm39) S533T possibly damaging Het
Lrp4 T C 2: 91,305,579 (GRCm39) V283A possibly damaging Het
Magi3 G T 3: 103,958,181 (GRCm39) H635N probably damaging Het
Mecr A T 4: 131,592,565 (GRCm39) probably null Het
Mgrn1 T C 16: 4,728,674 (GRCm39) probably null Het
Mical2 A C 7: 112,012,087 (GRCm39) N646H probably damaging Het
Mymk C T 2: 26,957,377 (GRCm39) V39I possibly damaging Het
Nav3 T C 10: 109,555,880 (GRCm39) S1684G probably damaging Het
Ntn5 A T 7: 45,342,644 (GRCm39) D330V probably benign Het
Nutm2 T A 13: 50,623,774 (GRCm39) V157D possibly damaging Het
Obscn T C 11: 58,960,760 (GRCm39) I3460V probably benign Het
Or8u10 A T 2: 85,915,257 (GRCm39) M288K possibly damaging Het
Pakap A G 4: 57,855,928 (GRCm39) E419G probably benign Het
Pcdh15 C T 10: 74,178,483 (GRCm39) A580V probably null Het
Pcdhb10 T A 18: 37,545,456 (GRCm39) H177Q probably damaging Het
Pitx2 T C 3: 129,012,118 (GRCm39) Y130H probably damaging Het
Pmch G T 10: 87,927,248 (GRCm39) probably null Het
Pofut2 T A 10: 77,104,420 (GRCm39) I399N probably damaging Het
Prr36 C A 8: 4,264,177 (GRCm39) probably benign Het
Ptprq C A 10: 107,353,748 (GRCm39) C2256F probably damaging Het
Rassf5 G A 1: 131,172,716 (GRCm39) A51V probably damaging Het
Retnla A G 16: 48,663,258 (GRCm39) I54V probably benign Het
Rimbp2 A G 5: 128,880,961 (GRCm39) L142P probably benign Het
Ripk1 A G 13: 34,216,484 (GRCm39) T564A probably benign Het
Robo4 G A 9: 37,314,829 (GRCm39) E228K probably benign Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Homo
Rusc1 A T 3: 88,996,319 (GRCm39) L132Q probably damaging Het
Serpinb9h A T 13: 33,588,427 (GRCm39) E337D probably benign Het
Setd1a T C 7: 127,377,455 (GRCm39) probably null Het
Slc38a6 A T 12: 73,356,970 (GRCm39) K122M probably damaging Het
Speer4a2 A G 5: 26,290,691 (GRCm39) I160T probably benign Het
Susd5 A T 9: 113,924,726 (GRCm39) D203V probably damaging Het
Trip4 G A 9: 65,786,434 (GRCm39) R110* probably null Het
Tuba4a T A 1: 75,193,518 (GRCm39) I95F probably benign Het
Ube2q2 T A 9: 55,070,267 (GRCm39) S70T probably benign Het
Umodl1 A G 17: 31,215,256 (GRCm39) I1027V possibly damaging Het
Unc80 G A 1: 66,716,630 (GRCm39) V2917I probably benign Het
Vmn1r70 T A 7: 10,367,598 (GRCm39) C29S probably benign Het
Vmn2r94 A T 17: 18,477,996 (GRCm39) D138E probably benign Het
Wee2 C T 6: 40,426,617 (GRCm39) H129Y probably damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,723,440 (GRCm39) probably benign Het
Zfp872 A T 9: 22,108,427 (GRCm39) D42V probably benign Het
Zic5 T G 14: 122,702,386 (GRCm39) D115A unknown Het
Other mutations in Nup42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Nup42 APN 5 24,387,041 (GRCm39) missense possibly damaging 0.92
IGL01992:Nup42 APN 5 24,386,101 (GRCm39) missense probably benign 0.01
IGL02638:Nup42 APN 5 24,380,505 (GRCm39) missense probably benign 0.03
IGL03197:Nup42 APN 5 24,372,463 (GRCm39) missense probably damaging 0.98
R1484:Nup42 UTSW 5 24,383,075 (GRCm39) missense probably benign 0.08
R2004:Nup42 UTSW 5 24,386,989 (GRCm39) nonsense probably null
R3617:Nup42 UTSW 5 24,387,325 (GRCm39) missense probably benign 0.04
R4004:Nup42 UTSW 5 24,387,434 (GRCm39) missense probably damaging 0.96
R4547:Nup42 UTSW 5 24,382,968 (GRCm39) intron probably benign
R4669:Nup42 UTSW 5 24,387,415 (GRCm39) missense probably benign 0.21
R5974:Nup42 UTSW 5 24,372,400 (GRCm39) missense probably damaging 1.00
R6315:Nup42 UTSW 5 24,372,502 (GRCm39) missense probably damaging 0.97
R6914:Nup42 UTSW 5 24,386,082 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGTTTGAATGTGTCTAATCAGCTC -3'
(R):5'- TGGGTCAAGCATATTCAAGCC -3'

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