Incidental Mutation 'R9411:Retn'
ID 711809
Institutional Source Beutler Lab
Gene Symbol Retn
Ensembl Gene ENSMUSG00000012705
Gene Name resistin
Synonyms Fizz3, Xcp4, rstn, ADSF, adipocyte-specific secretory factor
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9411 (G1)
Quality Score 204.009
Status Not validated
Chromosome 8
Chromosomal Location 3705770-3709818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3707378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 113 (A113T)
Ref Sequence ENSEMBL: ENSMUSP00000012849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012849] [ENSMUST00000169234]
AlphaFold Q99P87
PDB Structure Crystal Structure of resisitin [X-RAY DIFFRACTION]
Crystal Structure of resisitin [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000012849
AA Change: A113T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000012849
Gene: ENSMUSG00000012705
AA Change: A113T

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Pfam:Resistin 22 110 6.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169234
AA Change: A113T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000133024
Gene: ENSMUSG00000012705
AA Change: A113T

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Pfam:Resistin 24 110 2.7e-39 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice display impaired gluconeogenesis, lower fasting blood glucose levels, and a weaker positive correlation between body weight and blood glucose. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 G A 13: 91,919,919 (GRCm39) A285T probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atg7 T A 6: 114,690,289 (GRCm39) M650K probably benign Het
B020011L13Rik G A 1: 117,729,246 (GRCm39) G251E probably benign Het
Bhlha9 T C 11: 76,564,018 (GRCm39) V215A probably benign Het
Bmal1 C A 7: 112,907,837 (GRCm39) S513* probably null Het
C2cd3 T C 7: 100,065,704 (GRCm39) V452A Het
Cd55 G A 1: 130,368,114 (GRCm39) H370Y probably benign Het
Col6a1 A G 10: 76,547,487 (GRCm39) V662A unknown Het
Crocc A G 4: 140,749,577 (GRCm39) probably null Het
Cspg4b T A 13: 113,504,767 (GRCm39) N1965K Het
Dnah1 C T 14: 31,018,256 (GRCm39) V1421M probably damaging Het
Eid3 T G 10: 82,703,652 (GRCm39) I371S probably damaging Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Fshr T C 17: 89,293,148 (GRCm39) Y510C probably damaging Het
Garem1 C T 18: 21,369,057 (GRCm39) probably null Het
Gcn1 C T 5: 115,733,098 (GRCm39) T1045M possibly damaging Het
Ggt6 T A 11: 72,326,560 (GRCm39) L39H probably damaging Het
Glrb T C 3: 80,767,610 (GRCm39) probably null Het
Gpr171 T A 3: 59,005,311 (GRCm39) K155* probably null Het
Has2 T A 15: 56,531,306 (GRCm39) T470S possibly damaging Het
Ighv1-34 C T 12: 114,815,070 (GRCm39) V31M probably damaging Het
Kdm2a A T 19: 4,412,835 (GRCm39) N50K probably damaging Het
Mfsd9 C T 1: 40,829,692 (GRCm39) V30M probably damaging Het
Msra A G 14: 64,471,331 (GRCm39) I126T probably benign Het
Nkd2 G A 13: 73,969,330 (GRCm39) L379F probably benign Het
Nr2f2 A C 7: 70,007,525 (GRCm39) V319G Het
Ntng2 A T 2: 29,138,048 (GRCm39) L2Q probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pcnt T C 10: 76,258,896 (GRCm39) E523G probably damaging Het
Pllp C T 8: 95,402,868 (GRCm39) A158T probably benign Het
Plxna4 A G 6: 32,159,682 (GRCm39) S1431P probably damaging Het
Pramel16 A T 4: 143,676,215 (GRCm39) F296L probably damaging Het
Pramel31 A G 4: 144,089,997 (GRCm39) I346V probably benign Het
Prpf40a T C 2: 53,029,200 (GRCm39) D951G unknown Het
Rexo1 G T 10: 80,397,248 (GRCm39) R3S Het
Rras T A 7: 44,669,979 (GRCm39) I137N possibly damaging Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Sntb2 A G 8: 107,737,931 (GRCm39) D493G probably damaging Het
Socs5 T C 17: 87,442,521 (GRCm39) I487T possibly damaging Het
Spryd3 A G 15: 102,027,843 (GRCm39) Y235H probably damaging Het
Suco T A 1: 161,666,356 (GRCm39) I515F probably damaging Het
Syn2 T C 6: 115,231,152 (GRCm39) V269A possibly damaging Het
Tmbim6 T C 15: 99,304,501 (GRCm39) L186P probably damaging Het
Tmem234 T C 4: 129,495,988 (GRCm39) Y57H probably damaging Het
Tnik C A 3: 28,684,754 (GRCm39) P861T probably damaging Het
Tns1 A G 1: 73,992,662 (GRCm39) L45P probably damaging Het
Veph1 T A 3: 65,995,238 (GRCm39) D671V possibly damaging Het
Vwc2l A T 1: 70,767,980 (GRCm39) I15F probably benign Het
Zdbf2 A T 1: 63,343,288 (GRCm39) N556Y probably damaging Het
Zfp202 T A 9: 40,118,878 (GRCm39) V97D probably damaging Het
Zfp800 T C 6: 28,243,430 (GRCm39) I512V possibly damaging Het
Zkscan2 T C 7: 123,084,405 (GRCm39) D573G probably damaging Het
Other mutations in Retn
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4894:Retn UTSW 8 3,707,358 (GRCm39) missense probably damaging 1.00
R7519:Retn UTSW 8 3,706,079 (GRCm39) missense probably damaging 1.00
R9414:Retn UTSW 8 3,706,908 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CACTCTGTTTCCGTGGCAAC -3'
(R):5'- CTGTGCAACATTTCCCACAC -3'

Sequencing Primer
(F):5'- GGCAACAGCCTCCAGCC -3'
(R):5'- TGTGCAACATTTCCCACACAATTC -3'
Posted On 2022-05-16