Incidental Mutation 'R1162:Insl5'
ID 100448
Institutional Source Beutler Lab
Gene Symbol Insl5
Ensembl Gene ENSMUSG00000066090
Gene Name insulin-like 5
Synonyms relaxin/insulin-like factor 2, RIF2
MMRRC Submission 039235-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1162 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 102875069-102884039 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102875438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 104 (R104Q)
Ref Sequence ENSEMBL: ENSMUSP00000102482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084382] [ENSMUST00000106869]
AlphaFold Q9WUG6
Predicted Effect probably benign
Transcript: ENSMUST00000084382
AA Change: R94Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000081416
Gene: ENSMUSG00000066090
AA Change: R94Q

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IlGF 26 135 2.44e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106869
AA Change: R104Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102482
Gene: ENSMUSG00000066090
AA Change: R104Q

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 36 145 2.44e-5 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.9%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation display no abnormal phenotype. Mice homozygous for a different knock-out allele exhibit background sensitive reduction in fertility due to reduced sperm motility and irregular estrous cycle and impairment in glucose tolerance due to reduced insulin levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T C 4: 156,206,875 (GRCm39) probably null Het
Adamts12 T A 15: 11,277,544 (GRCm39) probably null Het
Ccn3 T A 15: 54,611,178 (GRCm39) C104* probably null Het
Cops4 T C 5: 100,678,023 (GRCm39) probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Dgkh A G 14: 78,861,891 (GRCm39) C125R probably damaging Het
Dgkz A T 2: 91,774,789 (GRCm39) I65N probably damaging Het
Dock10 T A 1: 80,546,559 (GRCm39) H743L possibly damaging Het
Dscaml1 T C 9: 45,663,647 (GRCm39) probably benign Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Gbe1 A T 16: 70,178,738 (GRCm39) probably benign Het
Gm7275 A G 16: 47,894,395 (GRCm39) noncoding transcript Het
Gpatch1 A G 7: 35,002,905 (GRCm39) probably benign Het
Gpr137c A G 14: 45,481,615 (GRCm39) I144V possibly damaging Het
Igsf9b T C 9: 27,238,185 (GRCm39) S563P probably benign Het
Kcnj2 T A 11: 110,963,793 (GRCm39) V395D probably benign Het
Ksr2 A G 5: 117,693,020 (GRCm39) probably benign Het
Lrrc4 C A 6: 28,831,083 (GRCm39) L177F probably damaging Het
Mapkbp1 A G 2: 119,855,799 (GRCm39) E1506G possibly damaging Het
Morc3 A C 16: 93,649,996 (GRCm39) Y259S probably damaging Het
Mrpl43 T G 19: 44,994,797 (GRCm39) S13R possibly damaging Het
Myh4 A G 11: 67,149,439 (GRCm39) N1724D probably damaging Het
Nab1 A G 1: 52,529,186 (GRCm39) M237T probably damaging Het
Nav2 A G 7: 49,185,788 (GRCm39) probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or2h15 A T 17: 38,441,984 (GRCm39) V33D possibly damaging Het
Or5ac15 T C 16: 58,939,735 (GRCm39) R233G probably damaging Het
Or5p80 A G 7: 108,230,120 (GRCm39) N307S probably benign Het
Phf2 A T 13: 48,973,117 (GRCm39) probably benign Het
Ppef2 A C 5: 92,400,980 (GRCm39) F13L probably benign Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Sap130 C T 18: 31,781,226 (GRCm39) P130S probably damaging Het
Scn11a A G 9: 119,634,710 (GRCm39) probably benign Het
Sec31b C A 19: 44,506,087 (GRCm39) E940* probably null Het
Sgce A G 6: 4,691,419 (GRCm39) probably benign Het
Sh3glb2 A T 2: 30,240,600 (GRCm39) I155N probably damaging Het
Sirt2 A T 7: 28,485,247 (GRCm39) D218V probably damaging Het
Slc16a10 T C 10: 39,952,549 (GRCm39) H315R probably benign Het
Sox5 A G 6: 143,906,538 (GRCm39) Y306H probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tab2 A G 10: 7,800,483 (GRCm39) V23A probably damaging Het
Trak1 G T 9: 121,282,407 (GRCm39) V429F possibly damaging Het
Trat1 T C 16: 48,560,572 (GRCm39) S102G possibly damaging Het
Trub1 G A 19: 57,461,191 (GRCm39) V156I probably benign Het
Tspan32 T A 7: 142,560,735 (GRCm39) M61K probably damaging Het
Unc13a T A 8: 72,100,561 (GRCm39) T1076S probably benign Het
Vangl2 A G 1: 171,832,414 (GRCm39) Y481H probably damaging Het
Vmn2r105 C T 17: 20,447,973 (GRCm39) E284K probably benign Het
Vmn2r60 A T 7: 41,845,195 (GRCm39) I853F probably benign Het
Yrdc T C 4: 124,748,254 (GRCm39) probably benign Het
Zfp595 A T 13: 67,465,259 (GRCm39) C335S probably damaging Het
Zfp872 A G 9: 22,110,910 (GRCm39) S149G possibly damaging Het
Other mutations in Insl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01989:Insl5 APN 4 102,883,838 (GRCm39) missense probably benign 0.31
R0255:Insl5 UTSW 4 102,875,313 (GRCm39) makesense probably null
R1542:Insl5 UTSW 4 102,875,382 (GRCm39) missense probably damaging 0.98
R1614:Insl5 UTSW 4 102,883,846 (GRCm39) nonsense probably null
R7535:Insl5 UTSW 4 102,875,395 (GRCm39) missense probably damaging 1.00
R8921:Insl5 UTSW 4 102,883,760 (GRCm39) missense probably damaging 1.00
R9143:Insl5 UTSW 4 102,883,841 (GRCm39) missense probably benign 0.35
R9404:Insl5 UTSW 4 102,875,535 (GRCm39) missense probably benign 0.01
Predicted Primers
Posted On 2014-01-15