Incidental Mutation 'R2217:Nsrp1'
ID 241227
Institutional Source Beutler Lab
Gene Symbol Nsrp1
Ensembl Gene ENSMUSG00000037958
Gene Name nuclear speckle regulatory protein 1
Synonyms Ccdc55, NSpr70
MMRRC Submission 040219-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2217 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 76935118-76969261 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 76936587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 536 (Y536*)
Ref Sequence ENSEMBL: ENSMUSP00000099552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102494] [ENSMUST00000127758]
AlphaFold Q5NCR9
Predicted Effect probably null
Transcript: ENSMUST00000102494
AA Change: Y536*
SMART Domains Protein: ENSMUSP00000099552
Gene: ENSMUSG00000037958
AA Change: Y536*

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
Pfam:DUF2040 57 176 1.1e-40 PFAM
low complexity region 359 375 N/A INTRINSIC
low complexity region 395 413 N/A INTRINSIC
low complexity region 432 448 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127758
SMART Domains Protein: ENSMUSP00000118119
Gene: ENSMUSG00000037958

DomainStartEndE-ValueType
low complexity region 27 39 N/A INTRINSIC
Pfam:DUF2040 51 78 1.9e-9 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit die prior to E6.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Apba1 T C 19: 23,871,326 (GRCm39) M386T probably damaging Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Catsperb T C 12: 101,560,478 (GRCm39) L823P probably damaging Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Daam1 G A 12: 72,036,601 (GRCm39) R1058H probably damaging Het
Ehd1 T A 19: 6,348,502 (GRCm39) D493E probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Pak5 A G 2: 135,958,123 (GRCm39) S322P probably damaging Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Pp2d1 C A 17: 53,822,482 (GRCm39) V195L probably benign Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc27a2 A G 2: 126,409,672 (GRCm39) T285A probably damaging Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Slf1 T A 13: 77,194,825 (GRCm39) probably null Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Vax2 A T 6: 83,714,871 (GRCm39) Y262F probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly damaging Het
Other mutations in Nsrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00531:Nsrp1 APN 11 76,937,021 (GRCm39) nonsense probably null
IGL01478:Nsrp1 APN 11 76,941,478 (GRCm39) missense probably benign 0.00
R0413:Nsrp1 UTSW 11 76,936,997 (GRCm39) missense probably benign
R0959:Nsrp1 UTSW 11 76,937,285 (GRCm39) nonsense probably null
R1187:Nsrp1 UTSW 11 76,936,853 (GRCm39) missense probably benign 0.04
R1375:Nsrp1 UTSW 11 76,941,543 (GRCm39) splice site probably benign
R1513:Nsrp1 UTSW 11 76,937,445 (GRCm39) missense probably benign 0.01
R1969:Nsrp1 UTSW 11 76,936,612 (GRCm39) missense probably damaging 0.98
R2113:Nsrp1 UTSW 11 76,937,396 (GRCm39) missense probably benign 0.22
R2135:Nsrp1 UTSW 11 76,945,834 (GRCm39) splice site probably benign
R2218:Nsrp1 UTSW 11 76,936,587 (GRCm39) nonsense probably null
R4751:Nsrp1 UTSW 11 76,967,545 (GRCm39) missense possibly damaging 0.69
R4831:Nsrp1 UTSW 11 76,941,444 (GRCm39) missense probably benign 0.00
R4938:Nsrp1 UTSW 11 76,936,570 (GRCm39) missense probably damaging 1.00
R5319:Nsrp1 UTSW 11 76,940,293 (GRCm39) missense probably damaging 0.99
R6286:Nsrp1 UTSW 11 76,940,269 (GRCm39) missense probably damaging 0.99
R7221:Nsrp1 UTSW 11 76,939,249 (GRCm39) missense probably damaging 1.00
R7751:Nsrp1 UTSW 11 76,940,097 (GRCm39) critical splice donor site probably null
R8005:Nsrp1 UTSW 11 76,936,612 (GRCm39) missense probably damaging 0.98
R8119:Nsrp1 UTSW 11 76,939,177 (GRCm39) critical splice donor site probably null
R9042:Nsrp1 UTSW 11 76,941,477 (GRCm39) missense probably benign 0.42
R9233:Nsrp1 UTSW 11 76,937,036 (GRCm39) missense probably benign
R9248:Nsrp1 UTSW 11 76,937,036 (GRCm39) missense probably benign
R9487:Nsrp1 UTSW 11 76,937,114 (GRCm39) nonsense probably null
R9592:Nsrp1 UTSW 11 76,940,104 (GRCm39) missense probably damaging 1.00
R9710:Nsrp1 UTSW 11 76,967,503 (GRCm39) missense probably damaging 0.97
X0022:Nsrp1 UTSW 11 76,937,095 (GRCm39) missense probably benign 0.02
Z1176:Nsrp1 UTSW 11 76,941,521 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCACTGAAGCTCAAAGAACTG -3'
(R):5'- GTCTAGACCAAAGGACGACC -3'

Sequencing Primer
(F):5'- CTGAAGCTCAAAGAACTGACTTTTG -3'
(R):5'- GGGAAGCCCTCTCATTCTGAAAC -3'
Posted On 2014-10-15