Incidental Mutation 'R6038:Nhp2'
ID479308
Institutional Source Beutler Lab
Gene Symbol Nhp2
Ensembl Gene ENSMUSG00000001056
Gene NameNHP2 ribonucleoprotein
SynonymsH/ACA small nucleolar RNPs, NHP2, D11Ertd175e, 2410130M07Rik, Nola2
MMRRC Submission 044208-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6038 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location51619735-51623714 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 51620085 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 55 (V55A)
Ref Sequence ENSEMBL: ENSMUSP00000120014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001081] [ENSMUST00000127405] [ENSMUST00000136020]
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 noncoding transcript
Transcript: ENSMUST00000001083
Predicted Effect probably benign
Transcript: ENSMUST00000127405
AA Change: V55A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120014
Gene: ENSMUSG00000001056
AA Change: V55A

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
Meta Mutation Damage Score 0.112 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.1%
  • 10x: 93.7%
  • 20x: 76.5%
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
Abcc10 A G 17: 46,304,360 C1327R probably damaging Het
Adcy7 A G 8: 88,322,980 T704A probably benign Het
Adgra3 A T 5: 49,999,145 Y414* probably null Het
Adgrf1 T C 17: 43,295,209 S75P probably benign Het
Antxr1 C A 6: 87,287,000 probably null Het
Arid1b A T 17: 5,336,682 Y1470F probably benign Het
Baiap3 T C 17: 25,246,334 D649G probably damaging Het
BC067074 G A 13: 113,318,619 V400M possibly damaging Het
Cabin1 A G 10: 75,739,366 V615A probably benign Het
Cntnap1 G A 11: 101,184,636 R880Q probably benign Het
Col28a1 T C 6: 8,013,140 T971A probably benign Het
Coro7 A T 16: 4,679,550 probably null Het
Defb19 T G 2: 152,576,267 probably null Het
Dnah17 T C 11: 118,055,889 D3045G probably benign Het
Dock4 A T 12: 40,733,351 probably null Het
Egln3 A G 12: 54,181,690 V210A probably damaging Het
Epb41l4a T C 18: 33,854,335 S330G probably benign Het
Epha7 G A 4: 28,821,521 E229K probably damaging Het
Fam71a C T 1: 191,162,722 E575K probably damaging Het
Fam71e1 C T 7: 44,500,295 R147W probably damaging Het
Fam71e2 T C 7: 4,753,595 probably null Het
Fetub C T 16: 22,932,331 R143C probably damaging Het
Gxylt2 T A 6: 100,804,594 L410Q probably damaging Het
H2-M10.3 C A 17: 36,368,395 C6F probably benign Het
Hecw1 G T 13: 14,346,062 Q197K probably benign Het
Hk3 T C 13: 55,006,560 M778V probably benign Het
Hydin A G 8: 110,599,031 T4691A probably benign Het
Kndc1 CT C 7: 139,923,775 probably null Het
Larp1 A G 11: 58,041,605 E204G possibly damaging Het
Lrp12 A C 15: 39,872,380 W738G probably damaging Het
March10 A G 11: 105,402,051 S72P probably damaging Het
Mdga2 A T 12: 66,630,053 D488E probably damaging Het
Mrc1 G C 2: 14,257,071 W290C probably damaging Het
Olfr1116 T A 2: 87,269,267 I141N possibly damaging Het
Olfr58 A G 9: 19,783,562 Y143C probably benign Het
Olfr741 T C 14: 50,486,220 L254P probably damaging Het
Osbpl7 C T 11: 97,050,716 P22S probably benign Het
Pebp1 A T 5: 117,284,105 L124Q probably benign Het
Pfkp G T 13: 6,597,969 H524N probably benign Het
Pnmt G A 11: 98,387,768 D187N probably damaging Het
Ppl A T 16: 5,102,581 I355K possibly damaging Het
Prom1 A T 5: 44,001,793 Y836N probably damaging Het
Rubcnl T C 14: 75,031,970 S23P probably benign Het
Sap130 T A 18: 31,680,486 I532N probably damaging Het
Serpina1e A T 12: 103,946,836 probably null Het
Skiv2l2 A T 13: 112,891,290 S679T probably benign Het
Slc12a3 T G 8: 94,330,472 S124R probably benign Het
Slc24a5 A G 2: 125,085,731 T317A probably benign Het
Smarcad1 T C 6: 65,073,248 S284P possibly damaging Het
Spag9 C G 11: 94,112,092 R724G probably damaging Het
Speg T C 1: 75,418,459 probably null Het
Steap3 A G 1: 120,241,641 Y271H probably damaging Het
Syne2 C T 12: 75,878,384 Q44* probably null Het
Syt16 G A 12: 74,222,535 probably null Het
Tas2r114 A T 6: 131,689,481 C195S possibly damaging Het
Tcl1b4 T C 12: 105,202,507 M10T possibly damaging Het
Tln1 G C 4: 43,555,052 F259L probably damaging Het
Vmn2r60 C A 7: 42,194,962 A583D probably benign Het
Wdhd1 T C 14: 47,263,580 Q455R possibly damaging Het
Wdr17 A G 8: 54,632,311 probably null Het
Xbp1 T C 11: 5,524,798 L233P probably benign Het
Zbtb17 A G 4: 141,464,441 E288G probably benign Het
Other mutations in Nhp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0324:Nhp2 UTSW 11 51622507 missense possibly damaging 0.74
R0723:Nhp2 UTSW 11 51619923 nonsense probably null
R6038:Nhp2 UTSW 11 51620085 missense probably benign 0.00
R6407:Nhp2 UTSW 11 51619903 missense probably benign
R6958:Nhp2 UTSW 11 51623107 missense probably benign
Predicted Primers
Posted On2017-06-26