Incidental Mutation 'IGL01989:Insl5'
ID 182830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Insl5
Ensembl Gene ENSMUSG00000066090
Gene Name insulin-like 5
Synonyms relaxin/insulin-like factor 2, RIF2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01989
Quality Score
Status
Chromosome 4
Chromosomal Location 102875069-102884039 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 102883838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 28 (V28L)
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: V18L

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000081416
Gene: ENSMUSG00000066090
AA Change: V18L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IlGF 26 135 2.44e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106869
AA Change: V28L

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102482
Gene: ENSMUSG00000066090
AA Change: V28L

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 36 145 2.44e-5 SMART
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,862,266 (GRCm39) V8D probably damaging Het
Asb15 A G 6: 24,565,943 (GRCm39) T299A probably damaging Het
Asph A T 4: 9,602,462 (GRCm39) probably benign Het
Cadm3 G A 1: 173,165,578 (GRCm39) probably benign Het
Cep164 G A 9: 45,704,313 (GRCm39) probably benign Het
Ces2c C A 8: 105,576,375 (GRCm39) N129K probably damaging Het
Chdh C A 14: 29,753,688 (GRCm39) P199Q possibly damaging Het
Dnah7b T C 1: 46,328,694 (GRCm39) V3142A probably damaging Het
Dnmbp A G 19: 43,855,994 (GRCm39) L254P probably damaging Het
Dock2 G T 11: 34,218,053 (GRCm39) N1172K probably benign Het
Dppa5a T A 9: 78,275,103 (GRCm39) E66D probably benign Het
F5 A G 1: 164,003,876 (GRCm39) S224G probably benign Het
Fign T C 2: 63,810,794 (GRCm39) T159A probably benign Het
Fsip2 A T 2: 82,824,211 (GRCm39) D6648V probably damaging Het
Gbp2b A T 3: 142,317,201 (GRCm39) E519V probably benign Het
Hdac10 A G 15: 89,009,546 (GRCm39) L462P probably damaging Het
Hecw2 A G 1: 53,879,951 (GRCm39) L1286S probably damaging Het
Hnrnpll A G 17: 80,346,169 (GRCm39) V364A probably benign Het
Hnrnpul2 A G 19: 8,800,992 (GRCm39) T282A probably damaging Het
Il12a T A 3: 68,598,909 (GRCm39) probably benign Het
Kcnj3 G A 2: 55,327,243 (GRCm39) D11N probably benign Het
Lrfn2 A G 17: 49,378,113 (GRCm39) D398G probably damaging Het
Lrp1 C T 10: 127,413,998 (GRCm39) D1137N probably damaging Het
Mettl18 C A 1: 163,823,872 (GRCm39) D64E probably benign Het
Mrpl3 A G 9: 104,948,678 (GRCm39) T245A probably benign Het
Mrps18c C A 5: 100,949,775 (GRCm39) P52Q probably damaging Het
Myh3 A T 11: 66,977,481 (GRCm39) D377V probably damaging Het
N4bp1 C A 8: 87,575,115 (GRCm39) V727L probably damaging Het
Npffr2 A G 5: 89,730,831 (GRCm39) T254A probably benign Het
Nsfl1c C A 2: 151,342,649 (GRCm39) T73K probably damaging Het
Or8a1b C T 9: 37,623,132 (GRCm39) V148I probably damaging Het
Plxna1 C T 6: 89,306,396 (GRCm39) W1442* probably null Het
Serpina3n T A 12: 104,379,750 (GRCm39) M381K probably benign Het
Shank3 C T 15: 89,387,502 (GRCm39) probably benign Het
Smtnl1 T C 2: 84,648,814 (GRCm39) N147D probably benign Het
Sprr2j-ps T C 3: 92,326,412 (GRCm39) S96P unknown Het
Ssh2 A G 11: 77,344,511 (GRCm39) E832G possibly damaging Het
Stxbp1 T C 2: 32,702,076 (GRCm39) D207G probably benign Het
Sult1c2 A T 17: 54,281,055 (GRCm39) M16K probably benign Het
Tmem247 A G 17: 87,225,719 (GRCm39) E53G probably damaging Het
Tmem86a A T 7: 46,703,187 (GRCm39) I105F probably benign Het
Tph2 A G 10: 114,981,921 (GRCm39) S304P probably benign Het
Ttn T C 2: 76,608,883 (GRCm39) D17711G probably damaging Het
Urb1 A T 16: 90,566,474 (GRCm39) probably benign Het
Vcan T A 13: 89,837,478 (GRCm39) I1729L possibly damaging Het
Vmn2r90 T A 17: 17,933,494 (GRCm39) Y351* probably null Het
Wfdc5 C T 2: 164,020,651 (GRCm39) probably null Het
Wnt3 G A 11: 103,703,233 (GRCm39) D239N probably benign Het
Zbtb8b T A 4: 129,326,181 (GRCm39) E295V probably damaging Het
Zfp458 T C 13: 67,407,691 (GRCm39) T52A probably damaging Het
Other mutations in Insl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0255:Insl5 UTSW 4 102,875,313 (GRCm39) makesense probably null
R1162:Insl5 UTSW 4 102,875,438 (GRCm39) missense probably benign 0.00
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
Posted On 2014-05-07