Incidental Mutation 'R6563:Irs1'
ID 522513
Institutional Source Beutler Lab
Gene Symbol Irs1
Ensembl Gene ENSMUSG00000055980
Gene Name insulin receptor substrate 1
Synonyms G972R, IRS-1
MMRRC Submission 044687-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.647) question?
Stock # R6563 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 82233101-82291416 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82288407 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 696 (N696I)
Ref Sequence ENSEMBL: ENSMUSP00000063795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069799]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000069799
AA Change: N696I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: N696I

DomainStartEndE-ValueType
PH 13 117 8.13e-14 SMART
low complexity region 123 143 N/A INTRINSIC
IRS 155 257 1.19e-35 SMART
PTBI 155 257 7.8e-60 SMART
low complexity region 263 276 N/A INTRINSIC
low complexity region 378 399 N/A INTRINSIC
low complexity region 407 419 N/A INTRINSIC
low complexity region 551 568 N/A INTRINSIC
low complexity region 662 689 N/A INTRINSIC
low complexity region 784 794 N/A INTRINSIC
low complexity region 801 810 N/A INTRINSIC
low complexity region 824 837 N/A INTRINSIC
low complexity region 1019 1040 N/A INTRINSIC
low complexity region 1051 1062 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1185 1200 N/A INTRINSIC
Meta Mutation Damage Score 0.2989 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit 50 percent reductions in body weights at birth and at 4 months of age, impaired glucose tolerance, and mild insulin and IGF-1 resistance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410131K14Rik T C 5: 118,258,982 (GRCm38) V92A possibly damaging Het
Arhgap11a A T 2: 113,833,902 (GRCm38) C679S probably benign Het
Atg4d C T 9: 21,268,460 (GRCm38) L235F possibly damaging Het
Cyp2d22 A T 15: 82,371,912 (GRCm38) W174R probably damaging Het
Cyp4a14 T A 4: 115,492,086 (GRCm38) H259L probably benign Het
Dennd3 A T 15: 73,544,380 (GRCm38) H493L probably damaging Het
Diexf C A 1: 193,118,390 (GRCm38) R374L probably damaging Het
Dnm1 T A 2: 32,312,726 (GRCm38) D759V probably damaging Het
Dvl1 T A 4: 155,856,253 (GRCm38) N443K probably damaging Het
Dync2h1 A G 9: 7,120,819 (GRCm38) V2156A probably benign Het
Enpp5 G A 17: 44,085,264 (GRCm38) G356S probably damaging Het
Ermp1 T C 19: 29,623,778 (GRCm38) D523G probably damaging Het
Fam83c A G 2: 155,830,952 (GRCm38) V295A probably damaging Het
Gphn T C 12: 78,680,396 (GRCm38) probably null Het
Kmt5c A G 7: 4,742,629 (GRCm38) Y96C probably damaging Het
Krt77 G T 15: 101,862,923 (GRCm38) T315N probably damaging Het
L3mbtl3 A C 10: 26,302,863 (GRCm38) probably null Het
Lama3 A T 18: 12,537,766 (GRCm38) Y2409F probably damaging Het
Lrrc9 A G 12: 72,486,395 (GRCm38) probably null Het
Ltbp4 A T 7: 27,309,063 (GRCm38) N1273K probably damaging Het
Mfsd13b G A 7: 120,995,467 (GRCm38) A321T probably damaging Het
Mvb12b A T 2: 33,825,116 (GRCm38) H167Q probably benign Het
Myo1g T A 11: 6,517,146 (GRCm38) N230Y possibly damaging Het
Olfr57 A T 10: 79,035,217 (GRCm38) R140S possibly damaging Het
Prkar2b G T 12: 31,993,786 (GRCm38) probably null Het
Pwwp2a G T 11: 43,705,765 (GRCm38) A586S possibly damaging Het
Ryr1 A G 7: 29,095,492 (GRCm38) V1150A possibly damaging Het
Sh3bgr A G 16: 96,205,943 (GRCm38) probably null Het
Slk T C 19: 47,636,469 (GRCm38) probably null Het
Snx3 A G 10: 42,526,036 (GRCm38) E82G possibly damaging Het
Srcin1 A T 11: 97,534,774 (GRCm38) Y486N possibly damaging Het
Tecpr2 A G 12: 110,929,087 (GRCm38) E336G probably benign Het
Terf2ip G T 8: 112,018,202 (GRCm38) V384F probably damaging Het
Tnn T A 1: 160,088,398 (GRCm38) S1250C probably damaging Het
Tspoap1 A G 11: 87,777,159 (GRCm38) E1263G possibly damaging Het
Tubgcp5 A G 7: 55,825,661 (GRCm38) R932G possibly damaging Het
Vmn1r175 A G 7: 23,808,605 (GRCm38) I199T possibly damaging Het
Vmn1r225 C T 17: 20,502,501 (GRCm38) A68V probably benign Het
Vmn2r24 A T 6: 123,804,178 (GRCm38) N448Y possibly damaging Het
Other mutations in Irs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Irs1 APN 1 82,288,483 (GRCm38) missense probably benign 0.01
IGL00534:Irs1 APN 1 82,288,471 (GRCm38) missense probably benign
IGL01926:Irs1 APN 1 82,289,959 (GRCm38) missense probably damaging 0.98
IGL02130:Irs1 APN 1 82,289,467 (GRCm38) missense probably damaging 1.00
IGL03338:Irs1 APN 1 82,288,401 (GRCm38) missense probably benign 0.05
Hoverboard UTSW 1 82,290,098 (GRCm38) nonsense probably null
runt UTSW 1 82,287,732 (GRCm38) frame shift probably null
runt2 UTSW 1 82,286,967 (GRCm38) nonsense probably null
Sprite UTSW 1 82,288,109 (GRCm38) nonsense probably null
R0019:Irs1 UTSW 1 82,287,256 (GRCm38) nonsense probably null
R0063:Irs1 UTSW 1 82,288,859 (GRCm38) missense probably damaging 1.00
R0063:Irs1 UTSW 1 82,288,859 (GRCm38) missense probably damaging 1.00
R0318:Irs1 UTSW 1 82,288,660 (GRCm38) missense probably benign 0.01
R1199:Irs1 UTSW 1 82,289,626 (GRCm38) missense probably damaging 1.00
R1363:Irs1 UTSW 1 82,287,288 (GRCm38) missense probably benign 0.02
R1584:Irs1 UTSW 1 82,289,444 (GRCm38) missense probably benign 0.24
R1874:Irs1 UTSW 1 82,289,853 (GRCm38) frame shift probably null
R1903:Irs1 UTSW 1 82,289,461 (GRCm38) missense probably damaging 1.00
R1929:Irs1 UTSW 1 82,288,459 (GRCm38) missense probably benign
R1986:Irs1 UTSW 1 82,288,765 (GRCm38) missense probably damaging 1.00
R2136:Irs1 UTSW 1 82,290,042 (GRCm38) missense probably damaging 1.00
R2179:Irs1 UTSW 1 82,290,219 (GRCm38) missense possibly damaging 0.81
R2271:Irs1 UTSW 1 82,288,459 (GRCm38) missense probably benign
R2760:Irs1 UTSW 1 82,288,570 (GRCm38) missense probably damaging 1.00
R3721:Irs1 UTSW 1 82,290,085 (GRCm38) missense probably benign 0.11
R3821:Irs1 UTSW 1 82,290,049 (GRCm38) missense probably benign
R4306:Irs1 UTSW 1 82,287,964 (GRCm38) missense probably benign 0.11
R4420:Irs1 UTSW 1 82,288,450 (GRCm38) missense possibly damaging 0.94
R4451:Irs1 UTSW 1 82,289,028 (GRCm38) missense probably benign 0.00
R4479:Irs1 UTSW 1 82,287,294 (GRCm38) missense probably damaging 1.00
R4771:Irs1 UTSW 1 82,287,975 (GRCm38) missense probably benign 0.00
R4782:Irs1 UTSW 1 82,287,463 (GRCm38) missense probably benign 0.00
R4836:Irs1 UTSW 1 82,287,732 (GRCm38) frame shift probably null
R4880:Irs1 UTSW 1 82,287,732 (GRCm38) frame shift probably null
R4881:Irs1 UTSW 1 82,287,732 (GRCm38) frame shift probably null
R5031:Irs1 UTSW 1 82,286,967 (GRCm38) nonsense probably null
R5053:Irs1 UTSW 1 82,286,922 (GRCm38) missense probably benign
R5418:Irs1 UTSW 1 82,288,770 (GRCm38) missense probably damaging 1.00
R5595:Irs1 UTSW 1 82,289,925 (GRCm38) missense probably damaging 1.00
R5698:Irs1 UTSW 1 82,288,734 (GRCm38) missense probably benign 0.01
R6381:Irs1 UTSW 1 82,287,684 (GRCm38) missense possibly damaging 0.66
R7002:Irs1 UTSW 1 82,288,260 (GRCm38) missense probably benign 0.13
R7095:Irs1 UTSW 1 82,290,098 (GRCm38) nonsense probably null
R7195:Irs1 UTSW 1 82,287,456 (GRCm38) missense probably benign 0.13
R7216:Irs1 UTSW 1 82,289,755 (GRCm38) missense probably damaging 0.98
R7361:Irs1 UTSW 1 82,289,114 (GRCm38) nonsense probably null
R7490:Irs1 UTSW 1 82,287,264 (GRCm38) missense probably damaging 0.99
R7540:Irs1 UTSW 1 82,288,002 (GRCm38) missense not run
R7706:Irs1 UTSW 1 82,287,691 (GRCm38) missense probably damaging 1.00
R7910:Irs1 UTSW 1 82,290,081 (GRCm38) missense probably benign 0.06
R7912:Irs1 UTSW 1 82,289,884 (GRCm38) missense probably benign
R7962:Irs1 UTSW 1 82,288,722 (GRCm38) missense possibly damaging 0.57
R8139:Irs1 UTSW 1 82,289,739 (GRCm38) missense probably damaging 1.00
R8158:Irs1 UTSW 1 82,289,533 (GRCm38) missense probably damaging 1.00
R8159:Irs1 UTSW 1 82,288,569 (GRCm38) missense probably damaging 1.00
R8187:Irs1 UTSW 1 82,288,300 (GRCm38) missense probably damaging 1.00
R8288:Irs1 UTSW 1 82,287,961 (GRCm38) nonsense probably null
R8436:Irs1 UTSW 1 82,290,249 (GRCm38) missense possibly damaging 0.96
R8865:Irs1 UTSW 1 82,288,109 (GRCm38) nonsense probably null
R8950:Irs1 UTSW 1 82,286,931 (GRCm38) missense probably benign
R9591:Irs1 UTSW 1 82,288,248 (GRCm38) missense probably benign 0.00
X0063:Irs1 UTSW 1 82,288,908 (GRCm38) missense probably damaging 1.00
X0065:Irs1 UTSW 1 82,289,365 (GRCm38) missense probably damaging 1.00
Z1177:Irs1 UTSW 1 82,290,394 (GRCm38) missense probably benign 0.29
Z1177:Irs1 UTSW 1 82,288,996 (GRCm38) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- GCTTAAAGGACCTTGGCAATGAG -3'
(R):5'- GAGCCCCAAGAGTGTATCTG -3'

Sequencing Primer
(F):5'- TAAGAGAGGACCGGCTTGTGC -3'
(R):5'- AGAGTGTATCTGCCCCACAGC -3'
Posted On 2018-06-06