Incidental Mutation 'R5595:Htt'
ID 437764
Institutional Source Beutler Lab
Gene Symbol Htt
Ensembl Gene ENSMUSG00000029104
Gene Name huntingtin
Synonyms HD, Hdh, htt, huntingtin, IT15
MMRRC Submission 043147-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5595 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 34761740-34912534 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34905397 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 2825 (V2825E)
Ref Sequence ENSEMBL: ENSMUSP00000078945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080036]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000080036
AA Change: V2825E

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078945
Gene: ENSMUSG00000029104
AA Change: V2825E

DomainStartEndE-ValueType
low complexity region 18 65 N/A INTRINSIC
SCOP:d1qgra_ 92 370 1e-12 SMART
low complexity region 371 388 N/A INTRINSIC
low complexity region 432 453 N/A INTRINSIC
low complexity region 1150 1161 N/A INTRINSIC
low complexity region 1423 1441 N/A INTRINSIC
Pfam:DUF3652 1494 1534 9.3e-20 PFAM
low complexity region 1812 1822 N/A INTRINSIC
Blast:GAF 1866 2040 1e-104 BLAST
low complexity region 2461 2472 N/A INTRINSIC
low complexity region 2611 2621 N/A INTRINSIC
low complexity region 2622 2635 N/A INTRINSIC
low complexity region 2857 2872 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201636
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]
PHENOTYPE: Null mutants gastrulate abnormally and die in utero. Conditional mutants are small with progressive neurodegeneration. Knock-ins of 20-150 CAG repeat units variably mimic Huntington's with late-onset motor defects, reactive gliosis and neuronal inclusions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,864,279 (GRCm38) F991S probably benign Het
4931406B18Rik A G 7: 43,497,872 (GRCm38) I218T possibly damaging Het
4931440F15Rik T C 11: 29,824,288 (GRCm38) N390D probably benign Het
9930111J21Rik2 C T 11: 49,019,711 (GRCm38) A632T possibly damaging Het
Akt1 A T 12: 112,658,616 (GRCm38) L166Q probably null Het
Alpk2 A T 18: 65,266,248 (GRCm38) D2086E probably damaging Het
Ankrd11 A T 8: 122,894,304 (GRCm38) C915* probably null Het
Ankrd44 T C 1: 54,762,347 (GRCm38) T274A probably damaging Het
Ankrd44 A T 1: 54,735,050 (GRCm38) I398K probably damaging Het
Arhgef2 A G 3: 88,642,976 (GRCm38) T663A probably benign Het
BC048403 T C 10: 121,740,147 (GRCm38) probably benign Het
Btbd16 C A 7: 130,823,304 (GRCm38) Q472K probably damaging Het
Btbd16 G A 7: 130,823,303 (GRCm38) M471I possibly damaging Het
Cdc37 G A 9: 21,143,213 (GRCm38) R39C probably damaging Het
Cnnm1 A G 19: 43,465,157 (GRCm38) N537S possibly damaging Het
Cop1 T A 1: 159,250,073 (GRCm38) D159E probably benign Het
Crtac1 C T 19: 42,413,951 (GRCm38) V73I probably benign Het
Cryz T A 3: 154,606,518 (GRCm38) V84E probably damaging Het
Ctnnd2 C T 15: 30,669,543 (GRCm38) L433F probably benign Het
Ctsq C A 13: 61,037,060 (GRCm38) D271Y probably benign Het
Cyp3a25 A C 5: 145,994,863 (GRCm38) probably null Het
Dmbt1 G C 7: 131,054,067 (GRCm38) W412C probably benign Het
Eif4e1b G A 13: 54,786,716 (GRCm38) V131I possibly damaging Het
Epha1 A G 6: 42,364,634 (GRCm38) V494A possibly damaging Het
Fbxl4 T C 4: 22,433,641 (GRCm38) S593P probably damaging Het
Fbxo41 G A 6: 85,479,901 (GRCm38) P429S probably benign Het
Fgfr3 G A 5: 33,730,003 (GRCm38) C204Y probably damaging Het
Gbf1 T C 19: 46,284,422 (GRCm38) V1665A possibly damaging Het
Irs1 A T 1: 82,289,925 (GRCm38) V190E probably damaging Het
Klk1 T C 7: 44,228,737 (GRCm38) probably null Het
Kmt2d T C 15: 98,850,024 (GRCm38) probably benign Het
Meox1 T C 11: 101,879,343 (GRCm38) E186G probably damaging Het
Micu2 G A 14: 57,971,744 (GRCm38) R86W probably damaging Het
Mrgprb1 A T 7: 48,447,684 (GRCm38) I160K probably damaging Het
Nckap1l T A 15: 103,475,658 (GRCm38) M561K possibly damaging Het
Olfr1199 A T 2: 88,756,405 (GRCm38) I90N probably damaging Het
Olfr605 A T 7: 103,442,428 (GRCm38) S232T probably damaging Het
Olfr689 A T 7: 105,314,006 (GRCm38) M1L probably benign Het
Otoa T A 7: 121,121,977 (GRCm38) L405H probably damaging Het
Phyhip A T 14: 70,466,874 (GRCm38) M178L probably benign Het
Pkd1l3 A T 8: 109,655,520 (GRCm38) N1630I probably damaging Het
Plek2 T A 12: 78,894,109 (GRCm38) T247S probably benign Het
Rhbdl3 T C 11: 80,337,583 (GRCm38) V293A probably damaging Het
Rock2 T A 12: 16,942,809 (GRCm38) F193Y probably damaging Het
Scn3a C T 2: 65,460,713 (GRCm38) M1896I probably benign Het
Snrnp200 T C 2: 127,226,013 (GRCm38) V810A probably damaging Het
Taar4 G A 10: 23,960,741 (GRCm38) S83N probably damaging Het
Tdpoz4 A T 3: 93,797,499 (GRCm38) T368S probably benign Het
Tec T A 5: 72,768,744 (GRCm38) I322F possibly damaging Het
Teddm2 T C 1: 153,850,400 (GRCm38) I190V probably benign Het
Tmem117 A G 15: 95,094,884 (GRCm38) E475G probably damaging Het
Trip10 T A 17: 57,262,460 (GRCm38) Y495N probably damaging Het
Ush2a T C 1: 188,906,498 (GRCm38) V4035A possibly damaging Het
Utrn C T 10: 12,682,318 (GRCm38) V1466M possibly damaging Het
Vasp A G 7: 19,257,891 (GRCm38) probably benign Het
Vmn1r89 A T 7: 13,219,930 (GRCm38) M130L possibly damaging Het
Vmn2r2 A T 3: 64,126,615 (GRCm38) D495E possibly damaging Het
Zfp213 A G 17: 23,561,186 (GRCm38) V120A possibly damaging Het
Other mutations in Htt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Htt APN 5 34,799,408 (GRCm38) missense probably benign 0.00
IGL00233:Htt APN 5 34,896,026 (GRCm38) splice site probably null
IGL00559:Htt APN 5 34,849,104 (GRCm38) splice site probably benign
IGL00765:Htt APN 5 34,877,425 (GRCm38) splice site probably benign
IGL00950:Htt APN 5 34,891,441 (GRCm38) missense probably benign
IGL00953:Htt APN 5 34,818,677 (GRCm38) missense probably benign 0.04
IGL00957:Htt APN 5 34,806,724 (GRCm38) missense probably benign
IGL01314:Htt APN 5 34,878,856 (GRCm38) missense probably benign
IGL01412:Htt APN 5 34,898,572 (GRCm38) missense probably damaging 0.98
IGL01510:Htt APN 5 34,907,512 (GRCm38) missense probably damaging 1.00
IGL01617:Htt APN 5 34,876,755 (GRCm38) missense possibly damaging 0.67
IGL01893:Htt APN 5 34,876,830 (GRCm38) missense probably damaging 1.00
IGL01914:Htt APN 5 34,829,709 (GRCm38) missense probably benign
IGL01994:Htt APN 5 34,832,604 (GRCm38) missense possibly damaging 0.83
IGL02102:Htt APN 5 34,891,481 (GRCm38) splice site probably benign
IGL02381:Htt APN 5 34,829,760 (GRCm38) missense probably benign 0.03
IGL02529:Htt APN 5 34,819,043 (GRCm38) splice site probably benign
IGL02678:Htt APN 5 34,899,902 (GRCm38) missense probably damaging 1.00
IGL02707:Htt APN 5 34,829,881 (GRCm38) critical splice donor site probably null
IGL02731:Htt APN 5 34,803,793 (GRCm38) missense probably benign 0.41
IGL02931:Htt APN 5 34,876,753 (GRCm38) missense probably damaging 1.00
IGL03167:Htt APN 5 34,818,986 (GRCm38) missense probably damaging 0.98
IGL03343:Htt APN 5 34,826,041 (GRCm38) missense probably benign
IGL03344:Htt APN 5 34,879,828 (GRCm38) missense probably benign 0.39
IGL03344:Htt APN 5 34,907,466 (GRCm38) missense probably benign 0.02
IGL03366:Htt APN 5 34,907,580 (GRCm38) missense probably damaging 1.00
IGL03410:Htt APN 5 34,799,445 (GRCm38) missense probably damaging 0.99
Chalk UTSW 5 34,907,086 (GRCm38) missense possibly damaging 0.86
IGL02796:Htt UTSW 5 34,877,482 (GRCm38) missense probably benign 0.43
PIT4377001:Htt UTSW 5 34,875,965 (GRCm38) missense probably benign 0.10
R0013:Htt UTSW 5 34,820,104 (GRCm38) missense probably benign 0.25
R0049:Htt UTSW 5 34,908,662 (GRCm38) missense probably damaging 0.97
R0049:Htt UTSW 5 34,908,662 (GRCm38) missense probably damaging 0.97
R0056:Htt UTSW 5 34,826,078 (GRCm38) splice site probably benign
R0207:Htt UTSW 5 34,896,908 (GRCm38) missense probably benign 0.11
R0329:Htt UTSW 5 34,817,134 (GRCm38) splice site probably benign
R0494:Htt UTSW 5 34,821,844 (GRCm38) missense possibly damaging 0.73
R0548:Htt UTSW 5 34,870,746 (GRCm38) missense probably damaging 1.00
R0601:Htt UTSW 5 34,846,003 (GRCm38) missense probably benign 0.08
R0799:Htt UTSW 5 34,817,753 (GRCm38) missense probably benign 0.00
R0947:Htt UTSW 5 34,898,924 (GRCm38) missense probably damaging 1.00
R1053:Htt UTSW 5 34,851,217 (GRCm38) critical splice acceptor site probably null
R1147:Htt UTSW 5 34,851,252 (GRCm38) missense probably damaging 0.98
R1147:Htt UTSW 5 34,851,252 (GRCm38) missense probably damaging 0.98
R1478:Htt UTSW 5 34,803,827 (GRCm38) missense probably damaging 0.99
R1573:Htt UTSW 5 34,864,374 (GRCm38) splice site probably benign
R1677:Htt UTSW 5 34,828,574 (GRCm38) missense probably damaging 1.00
R1792:Htt UTSW 5 34,907,199 (GRCm38) missense probably damaging 1.00
R1816:Htt UTSW 5 34,803,740 (GRCm38) missense probably benign 0.01
R1833:Htt UTSW 5 34,905,748 (GRCm38) splice site probably benign
R1837:Htt UTSW 5 34,819,023 (GRCm38) missense probably benign 0.00
R1846:Htt UTSW 5 34,848,944 (GRCm38) missense probably damaging 0.98
R1875:Htt UTSW 5 34,794,112 (GRCm38) missense probably benign 0.05
R1899:Htt UTSW 5 34,907,085 (GRCm38) missense probably benign 0.01
R2013:Htt UTSW 5 34,852,871 (GRCm38) missense probably damaging 0.99
R2062:Htt UTSW 5 34,825,982 (GRCm38) missense probably benign 0.00
R2064:Htt UTSW 5 34,825,982 (GRCm38) missense probably benign 0.00
R2067:Htt UTSW 5 34,825,982 (GRCm38) missense probably benign 0.00
R2068:Htt UTSW 5 34,825,982 (GRCm38) missense probably benign 0.00
R2131:Htt UTSW 5 34,877,109 (GRCm38) missense possibly damaging 0.50
R2162:Htt UTSW 5 34,821,718 (GRCm38) missense probably benign 0.44
R2169:Htt UTSW 5 34,877,475 (GRCm38) missense probably benign 0.08
R2345:Htt UTSW 5 34,826,004 (GRCm38) missense possibly damaging 0.80
R2433:Htt UTSW 5 34,907,541 (GRCm38) missense possibly damaging 0.65
R3027:Htt UTSW 5 34,820,095 (GRCm38) missense possibly damaging 0.85
R3123:Htt UTSW 5 34,804,531 (GRCm38) missense probably benign
R3125:Htt UTSW 5 34,804,531 (GRCm38) missense probably benign
R3717:Htt UTSW 5 34,811,522 (GRCm38) splice site probably benign
R3758:Htt UTSW 5 34,895,970 (GRCm38) missense probably damaging 0.97
R3805:Htt UTSW 5 34,877,204 (GRCm38) splice site probably null
R3833:Htt UTSW 5 34,821,718 (GRCm38) missense probably benign 0.44
R4066:Htt UTSW 5 34,878,847 (GRCm38) missense probably benign
R4272:Htt UTSW 5 34,849,069 (GRCm38) missense possibly damaging 0.96
R4625:Htt UTSW 5 34,829,785 (GRCm38) missense probably damaging 0.99
R4634:Htt UTSW 5 34,875,948 (GRCm38) missense probably benign 0.06
R4655:Htt UTSW 5 34,906,132 (GRCm38) missense probably benign 0.06
R4679:Htt UTSW 5 34,820,080 (GRCm38) missense probably benign
R4684:Htt UTSW 5 34,852,765 (GRCm38) missense probably damaging 1.00
R4832:Htt UTSW 5 34,824,840 (GRCm38) missense probably benign 0.01
R4833:Htt UTSW 5 34,852,225 (GRCm38) missense probably damaging 0.98
R4973:Htt UTSW 5 34,813,023 (GRCm38) missense probably damaging 0.99
R5095:Htt UTSW 5 34,824,395 (GRCm38) missense possibly damaging 0.89
R5132:Htt UTSW 5 34,905,679 (GRCm38) missense possibly damaging 0.89
R5351:Htt UTSW 5 34,803,833 (GRCm38) missense probably damaging 0.99
R5361:Htt UTSW 5 34,907,584 (GRCm38) missense possibly damaging 0.47
R5399:Htt UTSW 5 34,877,151 (GRCm38) missense probably damaging 0.98
R5462:Htt UTSW 5 34,885,507 (GRCm38) nonsense probably null
R5552:Htt UTSW 5 34,821,774 (GRCm38) missense probably benign
R5566:Htt UTSW 5 34,849,075 (GRCm38) missense probably damaging 1.00
R5617:Htt UTSW 5 34,870,806 (GRCm38) missense possibly damaging 0.77
R5835:Htt UTSW 5 34,813,190 (GRCm38) missense probably benign 0.16
R5891:Htt UTSW 5 34,870,823 (GRCm38) missense possibly damaging 0.62
R6158:Htt UTSW 5 34,907,086 (GRCm38) missense possibly damaging 0.86
R6159:Htt UTSW 5 34,804,676 (GRCm38) missense probably benign 0.08
R6169:Htt UTSW 5 34,907,473 (GRCm38) missense probably damaging 1.00
R6242:Htt UTSW 5 34,846,012 (GRCm38) missense probably damaging 1.00
R6274:Htt UTSW 5 34,852,087 (GRCm38) missense possibly damaging 0.81
R6280:Htt UTSW 5 34,870,759 (GRCm38) missense probably benign 0.00
R6294:Htt UTSW 5 34,821,826 (GRCm38) missense probably benign
R6331:Htt UTSW 5 34,895,887 (GRCm38) missense possibly damaging 0.89
R6448:Htt UTSW 5 34,875,992 (GRCm38) missense probably benign 0.05
R6474:Htt UTSW 5 34,824,895 (GRCm38) missense probably benign 0.06
R6592:Htt UTSW 5 34,877,044 (GRCm38) missense possibly damaging 0.92
R6818:Htt UTSW 5 34,782,767 (GRCm38) missense probably damaging 0.99
R6830:Htt UTSW 5 34,834,326 (GRCm38) missense possibly damaging 0.82
R6920:Htt UTSW 5 34,877,100 (GRCm38) missense probably null 1.00
R6962:Htt UTSW 5 34,899,771 (GRCm38) critical splice acceptor site probably null
R7057:Htt UTSW 5 34,821,723 (GRCm38) missense probably null 0.05
R7144:Htt UTSW 5 34,846,006 (GRCm38) missense probably damaging 1.00
R7166:Htt UTSW 5 34,852,894 (GRCm38) missense probably benign 0.42
R7329:Htt UTSW 5 34,829,755 (GRCm38) missense probably benign 0.03
R7378:Htt UTSW 5 34,803,799 (GRCm38) missense probably benign 0.04
R7418:Htt UTSW 5 34,790,353 (GRCm38) missense possibly damaging 0.55
R7495:Htt UTSW 5 34,811,477 (GRCm38) missense probably benign 0.00
R7554:Htt UTSW 5 34,864,740 (GRCm38) missense probably damaging 0.97
R7575:Htt UTSW 5 34,905,643 (GRCm38) missense probably damaging 1.00
R7763:Htt UTSW 5 34,852,190 (GRCm38) missense probably damaging 1.00
R7782:Htt UTSW 5 34,882,992 (GRCm38) missense probably benign 0.03
R7850:Htt UTSW 5 34,852,287 (GRCm38) splice site probably null
R7870:Htt UTSW 5 34,898,547 (GRCm38) missense possibly damaging 0.77
R7871:Htt UTSW 5 34,864,649 (GRCm38) missense probably benign 0.00
R7879:Htt UTSW 5 34,823,908 (GRCm38) missense probably benign
R7992:Htt UTSW 5 34,829,881 (GRCm38) critical splice donor site probably null
R8058:Htt UTSW 5 34,820,100 (GRCm38) missense probably benign
R8168:Htt UTSW 5 34,882,956 (GRCm38) missense probably benign 0.00
R8188:Htt UTSW 5 34,761,943 (GRCm38) missense probably benign 0.03
R8262:Htt UTSW 5 34,895,960 (GRCm38) missense probably benign
R8343:Htt UTSW 5 34,905,724 (GRCm38) missense probably damaging 1.00
R8353:Htt UTSW 5 34,877,155 (GRCm38) missense possibly damaging 0.49
R8769:Htt UTSW 5 34,820,289 (GRCm38) missense probably benign 0.05
R8808:Htt UTSW 5 34,889,447 (GRCm38) missense probably benign 0.10
R8825:Htt UTSW 5 34,825,960 (GRCm38) missense probably benign 0.24
R8843:Htt UTSW 5 34,889,465 (GRCm38) missense possibly damaging 0.92
R8856:Htt UTSW 5 34,903,331 (GRCm38) missense probably benign 0.44
R8882:Htt UTSW 5 34,821,717 (GRCm38) missense probably benign
R8898:Htt UTSW 5 34,819,032 (GRCm38) missense probably benign 0.01
R8964:Htt UTSW 5 34,905,376 (GRCm38) missense probably benign 0.09
R8987:Htt UTSW 5 34,820,024 (GRCm38) missense probably benign 0.18
R8991:Htt UTSW 5 34,905,718 (GRCm38) missense probably damaging 1.00
R9005:Htt UTSW 5 34,817,751 (GRCm38) missense possibly damaging 0.92
R9019:Htt UTSW 5 34,866,576 (GRCm38) missense probably damaging 1.00
R9057:Htt UTSW 5 34,852,110 (GRCm38) missense possibly damaging 0.86
R9157:Htt UTSW 5 34,829,827 (GRCm38) missense probably null 0.89
R9205:Htt UTSW 5 34,819,023 (GRCm38) missense probably benign 0.00
R9223:Htt UTSW 5 34,905,348 (GRCm38) missense probably benign 0.01
R9243:Htt UTSW 5 34,898,932 (GRCm38) splice site probably benign
R9329:Htt UTSW 5 34,832,613 (GRCm38) missense possibly damaging 0.69
R9355:Htt UTSW 5 34,895,903 (GRCm38) missense probably benign
R9402:Htt UTSW 5 34,848,980 (GRCm38) missense probably damaging 1.00
R9446:Htt UTSW 5 34,761,928 (GRCm38) missense probably benign
R9716:Htt UTSW 5 34,854,675 (GRCm38) missense probably damaging 1.00
Z1177:Htt UTSW 5 34,852,231 (GRCm38) missense probably null 0.87
Predicted Primers PCR Primer
(F):5'- CTAGGCCATCCAGGTGAAAAG -3'
(R):5'- TGGACTCCTCACTTCCAGAC -3'

Sequencing Primer
(F):5'- CAGAGCTCTGTACTCAATAGATGTGG -3'
(R):5'- TCACTTCCAGACAGCATTACTC -3'
Posted On 2016-10-26