Incidental Mutation 'R6876:Arv1'
ID 536419
Institutional Source Beutler Lab
Gene Symbol Arv1
Ensembl Gene ENSMUSG00000031982
Gene Name ARV1 homolog, fatty acid homeostasis modulator
Synonyms 1110067L22Rik
MMRRC Submission 044972-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6876 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 125448878-125460862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125457651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 185 (K185R)
Ref Sequence ENSEMBL: ENSMUSP00000034463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034463] [ENSMUST00000212036]
AlphaFold Q9D0U9
Predicted Effect probably damaging
Transcript: ENSMUST00000034463
AA Change: K185R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034463
Gene: ENSMUSG00000031982
AA Change: K185R

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:Arv1 28 218 8.4e-68 PFAM
transmembrane domain 228 247 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212036
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous KO causes female infertility, reduction in body weight, amount of white adipose tissue and plasma lipid levels and increase in adiponectin levels, food consumption, energy expenditure and activity levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,044,288 (GRCm39) T201A probably damaging Het
Abca12 T A 1: 71,302,667 (GRCm39) D2184V probably damaging Het
Abcf1 C T 17: 36,270,136 (GRCm39) D641N probably benign Het
Adgrv1 C A 13: 81,303,273 (GRCm39) probably null Het
Aftph T C 11: 20,659,744 (GRCm39) E693G probably damaging Het
Ahnak A G 19: 8,991,484 (GRCm39) D4256G probably damaging Het
Ces4a T A 8: 105,871,624 (GRCm39) V258D possibly damaging Het
Col6a5 T C 9: 105,814,506 (GRCm39) D502G unknown Het
Diaph1 A T 18: 38,029,426 (GRCm39) H335Q unknown Het
Dtna G A 18: 23,744,167 (GRCm39) V404I probably benign Het
Ephb1 T C 9: 101,861,319 (GRCm39) D615G probably damaging Het
Gimap3 A T 6: 48,742,855 (GRCm39) I25N probably damaging Het
Hao1 A G 2: 134,343,069 (GRCm39) V274A probably benign Het
Hirip3 T C 7: 126,463,321 (GRCm39) S426P probably damaging Het
Igkv4-69 T C 6: 69,260,818 (GRCm39) D103G probably damaging Het
Kdm8 T C 7: 125,051,830 (GRCm39) V141A probably benign Het
Mink1 G T 11: 70,498,261 (GRCm39) A553S probably benign Het
Mpl T A 4: 118,314,317 (GRCm39) Y60F probably damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myo5a C A 9: 75,067,772 (GRCm39) R609S probably benign Het
Myo5b A T 18: 74,841,026 (GRCm39) H969L probably benign Het
Or1n2 T A 2: 36,797,834 (GRCm39) I292N probably damaging Het
Or2h2c G C 17: 37,422,098 (GRCm39) Q259E probably damaging Het
Or2y16 T C 11: 49,335,068 (GRCm39) L130P probably damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Prodh2 T A 7: 30,205,925 (GRCm39) W207R probably damaging Het
Qng1 T C 13: 58,532,910 (GRCm39) D20G probably damaging Het
Rfx6 A G 10: 51,596,087 (GRCm39) K457E probably damaging Het
Sim1 A G 10: 50,859,791 (GRCm39) E551G possibly damaging Het
Soat2 T C 15: 102,069,049 (GRCm39) F358S probably damaging Het
Tes3-ps A G 13: 49,647,195 (GRCm39) K24E probably benign Het
Txndc16 A G 14: 45,400,497 (GRCm39) F335L possibly damaging Het
Unc45b T C 11: 82,813,738 (GRCm39) Y382H probably benign Het
Vmn2r60 A G 7: 41,785,087 (GRCm39) T100A probably null Het
Vmn2r93 T A 17: 18,525,450 (GRCm39) H369Q probably benign Het
Yy1 A G 12: 108,772,518 (GRCm39) I265V probably benign Het
Zfp54 A T 17: 21,654,239 (GRCm39) K244N probably damaging Het
Other mutations in Arv1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Arv1 APN 8 125,457,617 (GRCm39) missense probably damaging 1.00
R1054:Arv1 UTSW 8 125,458,611 (GRCm39) missense probably benign
R1725:Arv1 UTSW 8 125,455,191 (GRCm39) missense probably damaging 1.00
R2171:Arv1 UTSW 8 125,455,094 (GRCm39) missense probably damaging 1.00
R8298:Arv1 UTSW 8 125,455,111 (GRCm39) missense probably damaging 1.00
R9251:Arv1 UTSW 8 125,452,062 (GRCm39) missense probably damaging 0.97
R9303:Arv1 UTSW 8 125,457,685 (GRCm39) missense probably damaging 1.00
R9733:Arv1 UTSW 8 125,458,658 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGTTTCTTAGGACAGCAGCTGC -3'
(R):5'- TCACCAAGTCTGATGCCCTG -3'

Sequencing Primer
(F):5'- GCAGCTGCGTTCTGTGC -3'
(R):5'- TGGGGCCATCATGTCAAGG -3'
Posted On 2018-10-18