Incidental Mutation 'R6876:Arv1'
Institutional Source Beutler Lab
Gene Symbol Arv1
Ensembl Gene ENSMUSG00000031982
Gene NameARV1 homolog, fatty acid homeostasis modulator
MMRRC Submission
Accession Numbers
Is this an essential gene? Not available question?
Stock #R6876 (G1)
Quality Score225.009
Status Not validated
Chromosomal Location124722139-124734123 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 124730912 bp
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]
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

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
2210016F16Rik T C 13: 58,385,096 D20G probably damaging Het
Aasdh T C 5: 76,896,441 T201A probably damaging Het
Abca12 T A 1: 71,263,508 D2184V probably damaging Het
Abcf1 C T 17: 35,959,244 D641N probably benign Het
Adgrv1 C A 13: 81,155,154 probably null Het
Aftph T C 11: 20,709,744 E693G probably damaging Het
Ahnak A G 19: 9,014,120 D4256G probably damaging Het
Ces4a T A 8: 105,144,992 V258D possibly damaging Het
Col6a5 T C 9: 105,937,307 D502G unknown Het
Diaph1 A T 18: 37,896,373 H335Q unknown Het
Dtna G A 18: 23,611,110 V404I probably benign Het
Ephb1 T C 9: 101,984,120 D615G probably damaging Het
Gimap3 A T 6: 48,765,921 I25N probably damaging Het
Hao1 A G 2: 134,501,149 V274A probably benign Het
Hirip3 T C 7: 126,864,149 S426P probably damaging Het
Igkv4-69 T C 6: 69,283,834 D103G probably damaging Het
Kdm8 T C 7: 125,452,658 V141A probably benign Het
Mink1 G T 11: 70,607,435 A553S probably benign Het
Mpl T A 4: 118,457,120 Y60F probably damaging Het
Muc5ac C T 7: 141,809,744 probably benign Het
Myo5a C A 9: 75,160,490 R609S probably benign Het
Myo5b A T 18: 74,707,955 H969L probably benign Het
Olfr1388 T C 11: 49,444,241 L130P probably damaging Het
Olfr354 T A 2: 36,907,822 I292N probably damaging Het
Olfr92 G C 17: 37,111,206 Q259E probably damaging Het
Peg10 T TCCA 6: 4,756,451 probably benign Het
Prodh2 T A 7: 30,506,500 W207R probably damaging Het
Rfx6 A G 10: 51,719,991 K457E probably damaging Het
Sim1 A G 10: 50,983,695 E551G possibly damaging Het
Soat2 T C 15: 102,160,614 F358S probably damaging Het
Tes3-ps A G 13: 49,493,719 K24E probably benign Het
Txndc16 A G 14: 45,163,040 F335L possibly damaging Het
Unc45b T C 11: 82,922,912 Y382H probably benign Het
Vmn2r60 A G 7: 42,135,663 T100A probably null Het
Vmn2r93 T A 17: 18,305,188 H369Q probably benign Het
Yy1 A G 12: 108,806,592 I265V probably benign Het
Zfp54 A T 17: 21,433,977 K244N probably damaging Het
Other mutations in Arv1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Arv1 APN 8 124730878 missense probably damaging 1.00
R1054:Arv1 UTSW 8 124731872 missense probably benign
R1725:Arv1 UTSW 8 124728452 missense probably damaging 1.00
R2171:Arv1 UTSW 8 124728355 missense probably damaging 1.00
R8298:Arv1 UTSW 8 124728372 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-10-18