Incidental Mutation 'R4064:Nhlh2'
ID 316003
Institutional Source Beutler Lab
Gene Symbol Nhlh2
Ensembl Gene ENSMUSG00000048540
Gene Name nescient helix loop helix 2
Synonyms bHLHa34, NSCL2, Hen2, Nscl-2, 6230401I09Rik
MMRRC Submission 041620-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4064 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 101917425-101922808 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101920052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 28 (D28G)
Ref Sequence ENSEMBL: ENSMUSP00000143362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066187] [ENSMUST00000196324] [ENSMUST00000198675]
AlphaFold Q64221
Predicted Effect probably benign
Transcript: ENSMUST00000066187
AA Change: D28G

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000064355
Gene: ENSMUSG00000048540
AA Change: D28G

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
low complexity region 65 79 N/A INTRINSIC
HLH 83 135 7.82e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196324
AA Change: D28G

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142746
Gene: ENSMUSG00000048540
AA Change: D28G

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
low complexity region 65 79 N/A INTRINSIC
HLH 83 135 7.82e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198675
AA Change: D28G

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143362
Gene: ENSMUSG00000048540
AA Change: D28G

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
low complexity region 65 79 N/A INTRINSIC
HLH 83 135 7.82e-17 SMART
Meta Mutation Damage Score 0.0588 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (44/44)
MGI Phenotype PHENOTYPE: Loss of function results in adult-onset obesity and reproductive defects, including hypogonadism, due to disruption of the hypothalamic-pituitary axis. Mutant male mice are sterile, whereas female mice show variable fertility dependent on the presence orabsence of male mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T G 19: 43,793,432 (GRCm39) Y361* probably null Het
Afmid A G 11: 117,727,354 (GRCm39) T293A probably benign Het
Ago4 A T 4: 126,409,655 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Axl C A 7: 25,463,445 (GRCm39) V602L probably benign Het
Cdc5l C T 17: 45,721,816 (GRCm39) A485T probably benign Het
Duoxa2 G T 2: 122,131,058 (GRCm39) S73I probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Etfdh T C 3: 79,513,098 (GRCm39) E435G possibly damaging Het
Fbxo15 C T 18: 84,977,243 (GRCm39) R52C probably damaging Het
Fosb G T 7: 19,039,117 (GRCm39) C186* probably null Het
Gtpbp2 G A 17: 46,478,253 (GRCm39) R467H probably damaging Het
Hnrnpll T C 17: 80,340,201 (GRCm39) H526R probably benign Het
Mphosph9 A T 5: 124,428,980 (GRCm39) F683I probably damaging Het
Mrps24 G A 11: 5,654,676 (GRCm39) R93* probably null Het
Or1e16 A T 11: 73,286,348 (GRCm39) S167T probably benign Het
Or5w17 A G 2: 87,584,133 (GRCm39) F68S probably damaging Het
Otogl A T 10: 107,626,510 (GRCm39) D1451E probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Parp4 A G 14: 56,861,597 (GRCm39) S977G probably benign Het
Psmb7 T C 2: 38,530,188 (GRCm39) T98A probably damaging Het
Pus10 A G 11: 23,678,983 (GRCm39) K485R probably damaging Het
Rab11fip3 T C 17: 26,243,368 (GRCm39) D588G probably damaging Het
Rgl2 T A 17: 34,156,082 (GRCm39) D723E possibly damaging Het
Rp1 A T 1: 4,415,623 (GRCm39) S1830T probably benign Het
Rreb1 T C 13: 38,114,293 (GRCm39) S551P probably benign Het
Serpinb7 A T 1: 107,373,766 (GRCm39) E127D probably benign Het
Sh3pxd2b G T 11: 32,372,263 (GRCm39) A477S probably benign Het
Slc26a9 T C 1: 131,690,925 (GRCm39) Y568H probably benign Het
Tars3 G A 7: 65,302,018 (GRCm39) A181T possibly damaging Het
Tbc1d2b T A 9: 90,100,975 (GRCm39) K672* probably null Het
Tmem59l T C 8: 70,938,369 (GRCm39) T168A probably damaging Het
Tshz2 A G 2: 169,804,245 (GRCm39) probably benign Het
Vmn1r9 T C 6: 57,048,306 (GRCm39) F127S probably damaging Het
Zfp282 G A 6: 47,857,028 (GRCm39) R87H probably damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Zscan22 C T 7: 12,640,941 (GRCm39) T395I probably damaging Het
Other mutations in Nhlh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Nhlh2 APN 3 101,920,342 (GRCm39) missense probably damaging 1.00
ANU74:Nhlh2 UTSW 3 101,919,970 (GRCm39) start codon destroyed probably benign 0.33
Predicted Primers PCR Primer
(F):5'- AAGTCCAGGTTTGCTAGGCC -3'
(R):5'- CTCGATCTTGGAGAGCTTCTTG -3'

Sequencing Primer
(F):5'- AGGTTTGCTAGGCCCTCGC -3'
(R):5'- TTGAAAGCCTCCACTCGGATG -3'
Posted On 2015-05-15