Incidental Mutation 'R7519:Retn'
ID 582565
Institutional Source Beutler Lab
Gene Symbol Retn
Ensembl Gene ENSMUSG00000012705
Gene Name resistin
Synonyms Fizz3, Xcp4, rstn, ADSF, adipocyte-specific secretory factor
MMRRC Submission 045591-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7519 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 3705770-3709818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3706079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 22 (S22C)
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 damaging
Transcript: ENSMUST00000012849
AA Change: S22C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000012849
Gene: ENSMUSG00000012705
AA Change: S22C

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Pfam:Resistin 22 110 6.4e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169234
AA Change: S22C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133024
Gene: ENSMUSG00000012705
AA Change: S22C

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: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (54/54)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik G A 7: 27,274,155 (GRCm39) R132K Het
Acaca T C 11: 84,136,682 (GRCm39) S571P probably damaging Het
Adamts20 T G 15: 94,223,869 (GRCm39) K1286N possibly damaging Het
Adamts7 A G 9: 90,079,132 (GRCm39) D1477G probably benign Het
Alox12b C T 11: 69,054,039 (GRCm39) T207I probably benign Het
Arid1b GGGCGGCGGCGGCGGCGGCGGCGG GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG 17: 5,046,119 (GRCm39) probably benign Het
Arid1b CGGCGG CGGCGGTGGCGG 17: 5,046,128 (GRCm39) probably benign Het
Aspm T A 1: 139,418,074 (GRCm39) N2934K possibly damaging Het
Axin2 T G 11: 108,833,072 (GRCm39) V419G probably benign Het
B4galnt4 A G 7: 140,644,257 (GRCm39) T108A probably damaging Het
Cacna1s G A 1: 135,998,494 (GRCm39) R174Q probably damaging Het
Cdh18 G T 15: 23,474,298 (GRCm39) A723S possibly damaging Het
Ces4a T C 8: 105,871,851 (GRCm39) M307T probably damaging Het
Cobl T A 11: 12,203,124 (GRCm39) I1193F probably damaging Het
Crb2 G T 2: 37,683,332 (GRCm39) G945W probably damaging Het
Ctnna1 T G 18: 35,307,424 (GRCm39) I140M probably benign Het
Dnah5 T C 15: 28,390,629 (GRCm39) S3213P probably damaging Het
Fbln7 A G 2: 128,735,785 (GRCm39) S258G probably benign Het
Fbxo15 T G 18: 84,982,359 (GRCm39) probably benign Het
Fcgbp A G 7: 27,785,724 (GRCm39) Y387C probably damaging Het
Flt3l G A 7: 44,783,269 (GRCm39) T176I unknown Het
Galk2 G A 2: 125,825,172 (GRCm39) R456H possibly damaging Het
Gm10840 T C 11: 106,051,716 (GRCm39) L14P unknown Het
Gm5591 T C 7: 38,220,094 (GRCm39) T260A possibly damaging Het
Gm6370 T A 5: 146,430,638 (GRCm39) D274E probably damaging Het
Grhl2 T A 15: 37,336,556 (GRCm39) D484E probably damaging Het
Hbp1 A T 12: 31,983,374 (GRCm39) V360D probably damaging Het
Heatr5b G T 17: 79,062,646 (GRCm39) Q1968K probably benign Het
Igsf8 C T 1: 172,143,874 (GRCm39) T72M probably benign Het
Kera A T 10: 97,444,884 (GRCm39) N81I probably damaging Het
Klhl14 C T 18: 21,784,900 (GRCm39) V176I probably benign Het
Klrb1 A T 6: 128,689,252 (GRCm39) V73E probably damaging Het
Krtap31-2 T C 11: 99,827,501 (GRCm39) L111P possibly damaging Het
Mbtd1 T C 11: 93,799,725 (GRCm39) S106P probably damaging Het
Nckap5l T C 15: 99,324,128 (GRCm39) T792A probably benign Het
Ndufaf4 A C 4: 24,901,847 (GRCm39) T132P probably damaging Het
Neo1 A G 9: 58,785,348 (GRCm39) V1453A probably benign Het
Or5w13 T C 2: 87,523,753 (GRCm39) I158V probably benign Het
Or6c76 A C 10: 129,612,091 (GRCm39) I103L probably benign Het
Pcdha11 T A 18: 37,139,319 (GRCm39) L316* probably null Het
Pcdha7 T C 18: 37,109,285 (GRCm39) M770T possibly damaging Het
Pcsk1 T C 13: 75,258,984 (GRCm39) S253P probably damaging Het
Phtf1 T C 3: 103,876,435 (GRCm39) Y12H probably damaging Het
Pkd1l2 T C 8: 117,792,268 (GRCm39) N508S probably benign Het
Pla1a A G 16: 38,235,208 (GRCm39) I162T possibly damaging Het
Rb1 A T 14: 73,502,048 (GRCm39) L446M probably damaging Het
Snx25 A G 8: 46,569,309 (GRCm39) L196P probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Spata31d1b G A 13: 59,864,726 (GRCm39) D625N probably benign Het
Sycp2 T C 2: 177,988,126 (GRCm39) *1501W probably null Het
Tarbp1 T G 8: 127,160,639 (GRCm39) T1271P possibly damaging Het
Uba1y T C Y: 821,567 (GRCm39) F154L probably benign Het
Ubr1 T A 2: 120,705,925 (GRCm39) I1513F possibly damaging Het
Vmn2r110 T A 17: 20,804,524 (GRCm39) Q132L probably benign Het
Vwf A T 6: 125,644,506 (GRCm39) T2454S Het
Wdr33 C A 18: 32,029,823 (GRCm39) F1007L unknown Het
Zfp398 A G 6: 47,836,407 (GRCm39) H201R probably benign Het
Other mutations in Retn
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4894:Retn UTSW 8 3,707,358 (GRCm39) missense probably damaging 1.00
R9411:Retn UTSW 8 3,707,378 (GRCm39) missense probably benign 0.01
R9414:Retn UTSW 8 3,706,908 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTGAATGTCCATCCATGTGTG -3'
(R):5'- CCATGATCAAGGTAGGTCAGG -3'

Sequencing Primer
(F):5'- TGCCCTCAGGAACTAAAGGACATTG -3'
(R):5'- TCAAGGTAGGTCAGGATGAATTTG -3'
Posted On 2019-10-17