Incidental Mutation 'R6958:Nhp2'
ID 541591
Institutional Source Beutler Lab
Gene Symbol Nhp2
Ensembl Gene ENSMUSG00000001056
Gene Name NHP2 ribonucleoprotein
Synonyms NHP2, H/ACA small nucleolar RNPs, 2410130M07Rik, Nola2, D11Ertd175e
MMRRC Submission 045009-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6958 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 51510600-51514545 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51513934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 118 (T118A)
Ref Sequence ENSEMBL: ENSMUSP00000120014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001081] [ENSMUST00000127405] [ENSMUST00000136020]
AlphaFold Q9CRB2
Predicted Effect probably benign
Transcript: ENSMUST00000001081
SMART Domains Protein: ENSMUSP00000001081
Gene: ENSMUSG00000001054

DomainStartEndE-ValueType
LisH 116 148 3.6e-4 SMART
CTLH 155 212 7.82e-14 SMART
CRA 210 304 1.63e-21 SMART
Pfam:zf-RING_UBOX 338 377 3.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127405
AA Change: T118A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120014
Gene: ENSMUSG00000001056
AA Change: T118A

DomainStartEndE-ValueType
Pfam:Ribosomal_L7Ae 45 139 1.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136020
SMART Domains Protein: ENSMUSP00000120636
Gene: ENSMUSG00000001054

DomainStartEndE-ValueType
LisH 116 148 3.6e-4 SMART
CTLH 155 212 7.82e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147009
SMART Domains Protein: ENSMUSP00000118594
Gene: ENSMUSG00000001054

DomainStartEndE-ValueType
Pfam:CLTH 1 91 1.4e-11 PFAM
Pfam:zf-RING_UBOX 130 169 3.1e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,649,558 (GRCm39) D159G probably benign Het
Ahnak A G 19: 8,992,579 (GRCm39) N4621S possibly damaging Het
Ankrd16 C T 2: 11,784,604 (GRCm39) A144V probably damaging Het
Bhmt1b G A 18: 87,775,046 (GRCm39) E190K probably benign Het
Ccdc14 T C 16: 34,511,176 (GRCm39) V2A probably damaging Het
Ccdc187 C T 2: 26,179,731 (GRCm39) V243I probably benign Het
Cdk12 A T 11: 98,132,525 (GRCm39) I985F unknown Het
Cfap65 T C 1: 74,971,058 (GRCm39) T87A possibly damaging Het
Cilp2 G A 8: 70,335,190 (GRCm39) P603S probably benign Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Cpa6 C T 1: 10,665,913 (GRCm39) V42M probably damaging Het
Cpsf4 A G 5: 145,112,402 (GRCm39) I115V probably benign Het
Dnah11 G T 12: 117,897,544 (GRCm39) P3562Q probably damaging Het
Dnah9 A G 11: 65,967,167 (GRCm39) F1664L probably damaging Het
Dpysl3 T C 18: 43,571,067 (GRCm39) Q69R probably benign Het
Ebf3 T C 7: 136,800,994 (GRCm39) T455A possibly damaging Het
Eif2ak3 T A 6: 70,869,667 (GRCm39) C785S probably benign Het
Elk4 T A 1: 131,945,570 (GRCm39) F149L probably damaging Het
Fgf14 A G 14: 124,914,009 (GRCm39) W41R probably benign Het
Fmnl1 T A 11: 103,062,140 (GRCm39) M1K probably null Het
Foxk2 A T 11: 121,190,563 (GRCm39) Q568L probably benign Het
Fryl T G 5: 73,231,272 (GRCm39) I1602L possibly damaging Het
Gfm2 A G 13: 97,282,744 (GRCm39) I75V probably damaging Het
Gm3233 T A 10: 77,595,369 (GRCm39) probably benign Het
Gnb1 G T 4: 155,627,651 (GRCm39) probably null Het
Gphn G T 12: 78,727,073 (GRCm39) V662L possibly damaging Het
Il3 A C 11: 54,157,937 (GRCm39) V47G probably benign Het
Iqgap3 A G 3: 88,020,673 (GRCm39) D401G possibly damaging Het
Kdm3b T A 18: 34,941,336 (GRCm39) S276T probably benign Het
Krtap6-2 A G 16: 89,216,698 (GRCm39) S90P unknown Het
Lars1 C T 18: 42,369,704 (GRCm39) V394I probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrp10 A G 14: 54,707,278 (GRCm39) probably benign Het
Ltn1 A T 16: 87,194,679 (GRCm39) C1407S probably benign Het
Lzts2 G T 19: 45,012,582 (GRCm39) probably benign Het
Msantd2 A G 9: 37,434,753 (GRCm39) E331G probably damaging Het
Myo15a G A 11: 60,394,451 (GRCm39) G1218S probably benign Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Nup155 A G 15: 8,176,638 (GRCm39) Y972C probably damaging Het
Nxpe2 A T 9: 48,237,566 (GRCm39) C230S probably damaging Het
Or12d13 T C 17: 37,647,308 (GRCm39) I272V probably benign Het
Or51g2 A G 7: 102,623,091 (GRCm39) L36P possibly damaging Het
Or5w8 T C 2: 87,688,295 (GRCm39) Y259H probably damaging Het
Pfkfb4 A T 9: 108,839,615 (GRCm39) N244I probably damaging Het
Pi4ka C T 16: 17,143,091 (GRCm39) R24Q probably damaging Het
Pkd2l2 C A 18: 34,542,543 (GRCm39) Y8* probably null Het
Pramel20 A T 4: 143,297,829 (GRCm39) D83V probably damaging Het
Ptprb T A 10: 116,113,153 (GRCm39) N44K probably benign Het
Sds G A 5: 120,619,537 (GRCm39) V149M probably damaging Het
Slc22a30 A G 19: 8,364,065 (GRCm39) F204L probably damaging Het
Slc26a7 C T 4: 14,506,442 (GRCm39) A636T probably benign Het
Slc27a1 C T 8: 72,038,083 (GRCm39) A577V possibly damaging Het
Spata13 A T 14: 60,989,300 (GRCm39) T319S possibly damaging Het
Styxl2 T A 1: 165,935,565 (GRCm39) D211V probably damaging Het
Tdrd3 A G 14: 87,694,532 (GRCm39) D29G probably damaging Het
Tex15 A T 8: 34,060,899 (GRCm39) I110L probably benign Het
Treml2 A G 17: 48,615,180 (GRCm39) T222A probably damaging Het
Trpd52l3 A T 19: 29,981,546 (GRCm39) L100F probably damaging Het
Ttf2 C T 3: 100,853,248 (GRCm39) E975K probably benign Het
Vmn1r193 T A 13: 22,404,144 (GRCm39) probably benign Het
Xpo1 A G 11: 23,235,855 (GRCm39) T648A probably benign Het
Zfp641 C T 15: 98,190,832 (GRCm39) V71I possibly damaging Het
Other mutations in Nhp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0324:Nhp2 UTSW 11 51,513,334 (GRCm39) missense possibly damaging 0.74
R0723:Nhp2 UTSW 11 51,510,750 (GRCm39) nonsense probably null
R6038:Nhp2 UTSW 11 51,510,912 (GRCm39) missense probably benign 0.00
R6038:Nhp2 UTSW 11 51,510,912 (GRCm39) missense probably benign 0.00
R6407:Nhp2 UTSW 11 51,510,730 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGGCCATGTGGGAATATTCAG -3'
(R):5'- CTGGGAAGACTCACACAGCAAG -3'

Sequencing Primer
(F):5'- AATATTCAGTATTGGCTTGGAGGACC -3'
(R):5'- CTCACACAGCAAGAAATCGGGG -3'
Posted On 2018-11-28