Incidental Mutation 'R1614:Insl5'
ID 176987
Institutional Source Beutler Lab
Gene Symbol Insl5
Ensembl Gene ENSMUSG00000066090
Gene Name insulin-like 5
Synonyms relaxin/insulin-like factor 2, RIF2
MMRRC Submission 039651-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1614 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 102875069-102884039 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 102883846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 25 (L25*)
Ref Sequence ENSEMBL: ENSMUSP00000102482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084382] [ENSMUST00000106869]
AlphaFold Q9WUG6
Predicted Effect probably null
Transcript: ENSMUST00000084382
AA Change: L15*
SMART Domains Protein: ENSMUSP00000081416
Gene: ENSMUSG00000066090
AA Change: L15*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IlGF 26 135 2.44e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106869
AA Change: L25*
SMART Domains Protein: ENSMUSP00000102482
Gene: ENSMUSG00000066090
AA Change: L25*

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 36 145 2.44e-5 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.4%
Validation Efficiency 100% (53/53)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl9 A G 5: 77,158,412 (GRCm39) T165A probably benign Het
Atpaf1 A T 4: 115,653,954 (GRCm39) K201N possibly damaging Het
Cacna1b G T 2: 24,580,819 (GRCm39) Q676K possibly damaging Het
Ccdc88c A T 12: 100,879,243 (GRCm39) H1959Q probably benign Het
Cep162 T C 9: 87,094,985 (GRCm39) D808G probably damaging Het
Chct1 T G 11: 85,063,690 (GRCm39) S28A possibly damaging Het
Chtf18 A G 17: 25,946,064 (GRCm39) L42P probably benign Het
Cox7c A G 13: 86,193,904 (GRCm39) F40L probably benign Het
Dock7 C T 4: 98,949,517 (GRCm39) V442I probably benign Het
Dst T C 1: 34,314,344 (GRCm39) F4198S probably damaging Het
Fam13a T A 6: 58,917,169 (GRCm39) D569V probably damaging Het
Gm6741 T A 17: 91,544,424 (GRCm39) H62Q probably benign Het
Gnptab A G 10: 88,250,451 (GRCm39) T172A probably benign Het
Greb1 A G 12: 16,751,172 (GRCm39) S1013P probably damaging Het
Ipo13 A G 4: 117,761,815 (GRCm39) S462P probably benign Het
Itgb1 G A 8: 129,446,546 (GRCm39) C401Y probably damaging Het
Kcnh7 G T 2: 62,680,948 (GRCm39) A213E probably benign Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Mesp2 T C 7: 79,461,367 (GRCm39) S231P probably benign Het
Nabp1 T C 1: 51,510,511 (GRCm39) N164D possibly damaging Het
Nop53 A G 7: 15,679,890 (GRCm39) V30A probably benign Het
Or1j17 T G 2: 36,578,321 (GRCm39) Y102* probably null Het
Or4a73 T A 2: 89,421,040 (GRCm39) I140L possibly damaging Het
Or4f54 T A 2: 111,123,411 (GRCm39) V266E probably damaging Het
Or4f62 T A 2: 111,986,862 (GRCm39) C189S probably damaging Het
Pcsk5 G A 19: 17,492,620 (GRCm39) R918C probably damaging Het
Pecam1 T C 11: 106,571,905 (GRCm39) D554G probably benign Het
Polr2a T C 11: 69,634,199 (GRCm39) I744V possibly damaging Het
Pop1 C A 15: 34,530,356 (GRCm39) A918D possibly damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prmt3 A T 7: 49,476,467 (GRCm39) I359F possibly damaging Het
Proz G A 8: 13,116,904 (GRCm39) C152Y probably damaging Het
Ptgfr A C 3: 151,507,416 (GRCm39) Y316D probably benign Het
Ralgapa2 G T 2: 146,230,532 (GRCm39) S1011Y probably damaging Het
Rnf43 C T 11: 87,622,485 (GRCm39) R529* probably null Het
Slc17a6 G A 7: 51,296,025 (GRCm39) probably benign Het
Slc25a19 A T 11: 115,507,449 (GRCm39) C224* probably null Het
Smarcd3 A G 5: 24,799,874 (GRCm39) S299P possibly damaging Het
Stard9 T C 2: 120,528,156 (GRCm39) F1471S possibly damaging Het
Strada A C 11: 106,059,145 (GRCm39) V211G probably damaging Het
Tom1l1 T C 11: 90,574,080 (GRCm39) E68G probably damaging Het
Vmn2r27 T G 6: 124,200,893 (GRCm39) I355L probably benign Het
Vmn2r68 A T 7: 84,870,946 (GRCm39) M779K possibly damaging Het
Zbtb18 T C 1: 177,274,736 (GRCm39) L23P probably damaging Het
Zfp112 G T 7: 23,826,024 (GRCm39) C664F probably damaging Het
Zfp955a A T 17: 33,461,306 (GRCm39) N275K 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
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
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 PCR Primer
(F):5'- CTGAAGCCCCGTGCAACGAA -3'
(R):5'- TCCACACTGTCACCTATGTGCTTAGTA -3'

Sequencing Primer
(F):5'- cacccgactgctcttcc -3'
(R):5'- CTGTCACCTATGTGCTTAGTAAACAC -3'
Posted On 2014-04-24