Incidental Mutation 'R1950:Insrr'
ID 217180
Institutional Source Beutler Lab
Gene Symbol Insrr
Ensembl Gene ENSMUSG00000005640
Gene Name insulin receptor-related receptor
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R1950 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 87704258-87723408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87721820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1198 (N1198S)
Ref Sequence ENSEMBL: ENSMUSP00000103208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029711] [ENSMUST00000029714] [ENSMUST00000090981] [ENSMUST00000107582]
AlphaFold Q9WTL4
Predicted Effect probably damaging
Transcript: ENSMUST00000029711
AA Change: N1198S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640
AA Change: N1198S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Recep_L_domain 47 159 1.8e-25 PFAM
FU 225 268 9.54e-11 SMART
Pfam:Recep_L_domain 346 460 3.8e-28 PFAM
FN3 483 586 9.19e-1 SMART
FN3 605 798 6.45e-5 SMART
FN3 816 899 6.35e-4 SMART
TyrKc 979 1246 4.61e-128 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000029714
SMART Domains Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 67 78 N/A INTRINSIC
EGF 102 130 3.82e-2 SMART
EGF_like 132 173 2.92e1 SMART
EGF_like 146 185 1.92e0 SMART
EGF_like 189 246 1.99e0 SMART
EGF 217 258 1.04e1 SMART
EGF_Lam 274 313 1.21e-4 SMART
EGF 312 344 4.03e-1 SMART
EGF_Lam 361 402 1.33e-1 SMART
EGF 401 433 1.18e-2 SMART
EGF_like 449 488 1.72e0 SMART
EGF 487 519 6.92e0 SMART
EGF_Lam 535 574 2.08e-3 SMART
EGF 573 605 5.49e-3 SMART
EGF_Lam 620 660 1.58e-3 SMART
EGF 659 691 3.1e-2 SMART
EGF 702 734 2.53e1 SMART
transmembrane domain 754 776 N/A INTRINSIC
low complexity region 809 822 N/A INTRINSIC
low complexity region 829 835 N/A INTRINSIC
low complexity region 954 971 N/A INTRINSIC
low complexity region 993 1002 N/A INTRINSIC
low complexity region 1019 1031 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090981
SMART Domains Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 67 78 N/A INTRINSIC
EGF 102 130 3.82e-2 SMART
EGF_like 132 173 2.92e1 SMART
EGF_like 146 185 1.92e0 SMART
EGF_like 189 246 1.99e0 SMART
EGF 217 258 1.04e1 SMART
EGF_Lam 274 313 1.21e-4 SMART
EGF 312 344 4.03e-1 SMART
EGF_Lam 361 402 1.33e-1 SMART
EGF 401 433 1.18e-2 SMART
EGF_like 449 488 1.72e0 SMART
EGF 487 519 6.92e0 SMART
EGF_Lam 535 574 2.08e-3 SMART
EGF 573 605 5.49e-3 SMART
EGF_Lam 620 660 1.58e-3 SMART
EGF 659 691 3.1e-2 SMART
EGF 702 734 2.53e1 SMART
transmembrane domain 754 776 N/A INTRINSIC
low complexity region 809 822 N/A INTRINSIC
low complexity region 829 835 N/A INTRINSIC
low complexity region 954 971 N/A INTRINSIC
low complexity region 993 1002 N/A INTRINSIC
low complexity region 1019 1031 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107582
AA Change: N1198S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640
AA Change: N1198S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Recep_L_domain 47 159 7.7e-25 PFAM
FU 225 268 9.54e-11 SMART
Pfam:Recep_L_domain 346 460 1.6e-28 PFAM
FN3 483 586 9.19e-1 SMART
FN3 605 798 6.45e-5 SMART
FN3 816 899 6.35e-4 SMART
TyrKc 979 1246 4.61e-128 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no anomalies in pancreatic islet morphology, beta-cell mass or pancreatic secretory function. This mutation in combination with Insr mutant mice does not affect the diabetes predisposition of Insr mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,010,677 (GRCm39) N478S probably damaging Het
Als2 T A 1: 59,224,760 (GRCm39) probably null Het
Ankfy1 A G 11: 72,651,155 (GRCm39) Y1035C probably damaging Het
Ankrd11 T C 8: 123,616,608 (GRCm39) T2394A probably damaging Het
Axin1 G C 17: 26,412,938 (GRCm39) G780R possibly damaging Het
Carm1 A T 9: 21,485,812 (GRCm39) T127S probably benign Het
Ccdc73 T C 2: 104,757,280 (GRCm39) I81T probably benign Het
Cdh12 T C 15: 21,237,965 (GRCm39) Y67H probably damaging Het
Cfap65 C A 1: 74,946,819 (GRCm39) G1297V probably damaging Het
Cfap74 T C 4: 155,511,887 (GRCm39) probably null Het
Chit1 A G 1: 134,078,968 (GRCm39) Y426C probably damaging Het
Clpp A G 17: 57,303,039 (GRCm39) probably benign Het
Clrn3 T G 7: 135,115,813 (GRCm39) Y179S possibly damaging Het
Cntn5 A C 9: 9,781,774 (GRCm39) M635R probably damaging Het
Col12a1 A T 9: 79,537,831 (GRCm39) S2546T possibly damaging Het
Ctla2b T C 13: 61,043,863 (GRCm39) N102S possibly damaging Het
Cwf19l2 A T 9: 3,418,674 (GRCm39) I154F probably benign Het
Dffa C A 4: 149,188,839 (GRCm39) S44R probably benign Het
Ehbp1 T A 11: 22,009,228 (GRCm39) K930M probably damaging Het
Erc2 T A 14: 27,634,857 (GRCm39) S473T probably damaging Het
Fbxw24 A T 9: 109,434,481 (GRCm39) L373H probably benign Het
Fer1l4 T C 2: 155,890,194 (GRCm39) I244V probably damaging Het
Fgfr2 G A 7: 129,800,211 (GRCm39) T245M probably damaging Het
Garin1b C T 6: 29,335,815 (GRCm39) probably null Het
Gbp9 T A 5: 105,229,112 (GRCm39) M512L probably benign Het
Glg1 T A 8: 111,892,271 (GRCm39) K251I possibly damaging Het
Gm10553 A G 1: 85,078,141 (GRCm39) D86G possibly damaging Het
Gm5622 T C 14: 51,893,229 (GRCm39) V52A probably benign Het
Gucy1b1 A G 3: 81,952,716 (GRCm39) V239A probably benign Het
Gzma A G 13: 113,230,463 (GRCm39) L246P probably damaging Het
Hibadh C A 6: 52,533,448 (GRCm39) A223S probably benign Het
Hydin C A 8: 111,336,619 (GRCm39) T5132N possibly damaging Het
Ivl T C 3: 92,479,420 (GRCm39) E215G possibly damaging Het
Jmjd1c A G 10: 67,075,701 (GRCm39) D2037G possibly damaging Het
Kcna3 G A 3: 106,944,988 (GRCm39) C417Y probably damaging Het
Klra2 T C 6: 131,207,078 (GRCm39) N177S probably benign Het
Llgl2 T C 11: 115,741,892 (GRCm39) S645P probably damaging Het
Lrrc15 T C 16: 30,092,649 (GRCm39) E230G probably benign Het
Magel2 C A 7: 62,028,163 (GRCm39) Q356K possibly damaging Het
Mcm6 A G 1: 128,273,726 (GRCm39) V368A probably benign Het
Myh8 G A 11: 67,169,830 (GRCm39) V50M possibly damaging Het
Myrf A T 19: 10,195,554 (GRCm39) F419I possibly damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Or10ak16 G A 4: 118,750,537 (GRCm39) V86M probably benign Het
Or52i2 A G 7: 102,319,684 (GRCm39) M186V probably benign Het
Otud4 G A 8: 80,372,961 (GRCm39) R93H probably damaging Het
Pank4 T A 4: 155,056,977 (GRCm39) M390K probably benign Het
Pecam1 A G 11: 106,576,029 (GRCm39) V401A probably damaging Het
Prdm6 C A 18: 53,669,796 (GRCm39) T138K possibly damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Prpf8 A G 11: 75,387,337 (GRCm39) E1206G possibly damaging Het
Prr30 A T 14: 101,435,377 (GRCm39) I395N probably benign Het
Rab27a G A 9: 72,982,751 (GRCm39) G19R probably damaging Het
Ramacl A G 13: 67,055,269 (GRCm39) probably benign Het
Rrp12 A G 19: 41,881,029 (GRCm39) V134A probably damaging Het
Scly A G 1: 91,233,116 (GRCm39) T76A probably benign Het
Scube3 T C 17: 28,383,274 (GRCm39) S439P possibly damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sipa1l1 T C 12: 82,388,233 (GRCm39) F153S probably damaging Het
Slc25a30 T G 14: 76,007,007 (GRCm39) K163T possibly damaging Het
Slc26a8 T A 17: 28,863,614 (GRCm39) D715V probably benign Het
Smr2 AT ATT 5: 88,256,683 (GRCm39) probably null Het
Smr2 C CT 5: 88,256,685 (GRCm39) probably null Het
Sp6 T G 11: 96,912,940 (GRCm39) S218A probably benign Het
Spata21 T C 4: 140,838,716 (GRCm39) V589A probably damaging Het
Sycp2 T C 2: 178,044,593 (GRCm39) I71V probably benign Het
Syne2 G T 12: 75,999,644 (GRCm39) G2347C probably benign Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Thbs4 A T 13: 92,906,079 (GRCm39) N387K probably damaging Het
Tmem184a T C 5: 139,793,381 (GRCm39) D216G probably damaging Het
Tprg1 T A 16: 25,136,098 (GRCm39) S30T possibly damaging Het
Trip12 A T 1: 84,738,522 (GRCm39) W778R probably damaging Het
Ttpa T C 4: 20,008,633 (GRCm39) L65P probably damaging Het
Ush2a A T 1: 188,487,382 (GRCm39) N3050I probably damaging Het
Xpot T C 10: 121,455,053 (GRCm39) I30V probably benign Het
Zfp944 A G 17: 22,558,681 (GRCm39) S189P probably benign Het
Zftraf1 A G 15: 76,543,417 (GRCm39) probably null Het
Other mutations in Insrr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Insrr APN 3 87,720,981 (GRCm39) critical splice donor site probably null
IGL00801:Insrr APN 3 87,721,115 (GRCm39) missense probably damaging 1.00
IGL01628:Insrr APN 3 87,708,099 (GRCm39) nonsense probably null
IGL01755:Insrr APN 3 87,721,493 (GRCm39) missense probably damaging 1.00
IGL02100:Insrr APN 3 87,718,927 (GRCm39) missense probably damaging 1.00
IGL02261:Insrr APN 3 87,708,029 (GRCm39) missense probably damaging 1.00
IGL02366:Insrr APN 3 87,717,216 (GRCm39) missense possibly damaging 0.91
IGL02387:Insrr APN 3 87,720,434 (GRCm39) missense probably damaging 1.00
IGL02478:Insrr APN 3 87,716,719 (GRCm39) missense probably benign 0.14
IGL02550:Insrr APN 3 87,711,805 (GRCm39) missense probably damaging 1.00
IGL02555:Insrr APN 3 87,721,124 (GRCm39) missense probably damaging 0.99
IGL02673:Insrr APN 3 87,720,368 (GRCm39) missense possibly damaging 0.95
IGL02724:Insrr APN 3 87,716,879 (GRCm39) missense probably benign 0.31
IGL02798:Insrr APN 3 87,717,824 (GRCm39) missense probably damaging 1.00
IGL02969:Insrr APN 3 87,721,498 (GRCm39) nonsense probably null
IGL03073:Insrr APN 3 87,717,245 (GRCm39) splice site probably benign
IGL03178:Insrr APN 3 87,709,848 (GRCm39) splice site probably null
IGL03389:Insrr APN 3 87,716,038 (GRCm39) missense probably damaging 1.00
IGL03399:Insrr APN 3 87,716,638 (GRCm39) missense probably null 0.99
IGL02799:Insrr UTSW 3 87,720,888 (GRCm39) missense probably damaging 1.00
R0011:Insrr UTSW 3 87,716,923 (GRCm39) missense possibly damaging 0.86
R0053:Insrr UTSW 3 87,707,759 (GRCm39) missense probably damaging 1.00
R0053:Insrr UTSW 3 87,707,759 (GRCm39) missense probably damaging 1.00
R0357:Insrr UTSW 3 87,715,953 (GRCm39) splice site probably null
R0501:Insrr UTSW 3 87,717,991 (GRCm39) missense probably benign 0.12
R0504:Insrr UTSW 3 87,720,463 (GRCm39) missense possibly damaging 0.69
R0522:Insrr UTSW 3 87,708,179 (GRCm39) missense probably damaging 1.00
R0555:Insrr UTSW 3 87,721,744 (GRCm39) splice site probably benign
R0558:Insrr UTSW 3 87,718,288 (GRCm39) missense possibly damaging 0.77
R0599:Insrr UTSW 3 87,720,440 (GRCm39) missense probably damaging 0.97
R1312:Insrr UTSW 3 87,707,797 (GRCm39) missense probably damaging 1.00
R1694:Insrr UTSW 3 87,711,369 (GRCm39) missense probably benign
R1785:Insrr UTSW 3 87,717,879 (GRCm39) splice site probably null
R1786:Insrr UTSW 3 87,717,879 (GRCm39) splice site probably null
R1892:Insrr UTSW 3 87,721,184 (GRCm39) missense probably damaging 1.00
R2080:Insrr UTSW 3 87,721,598 (GRCm39) missense possibly damaging 0.79
R2094:Insrr UTSW 3 87,710,488 (GRCm39) missense probably damaging 1.00
R2130:Insrr UTSW 3 87,717,879 (GRCm39) splice site probably null
R2131:Insrr UTSW 3 87,717,879 (GRCm39) splice site probably null
R2133:Insrr UTSW 3 87,717,879 (GRCm39) splice site probably null
R2220:Insrr UTSW 3 87,716,725 (GRCm39) missense probably damaging 1.00
R2259:Insrr UTSW 3 87,707,759 (GRCm39) missense probably damaging 1.00
R2404:Insrr UTSW 3 87,709,974 (GRCm39) missense possibly damaging 0.71
R4027:Insrr UTSW 3 87,716,906 (GRCm39) missense probably benign
R4042:Insrr UTSW 3 87,721,134 (GRCm39) missense probably damaging 1.00
R4510:Insrr UTSW 3 87,715,978 (GRCm39) missense possibly damaging 0.67
R4511:Insrr UTSW 3 87,715,978 (GRCm39) missense possibly damaging 0.67
R4571:Insrr UTSW 3 87,708,194 (GRCm39) missense probably benign
R4870:Insrr UTSW 3 87,718,911 (GRCm39) missense probably damaging 1.00
R5057:Insrr UTSW 3 87,722,572 (GRCm39) missense probably benign 0.00
R5393:Insrr UTSW 3 87,718,007 (GRCm39) splice site probably null
R5685:Insrr UTSW 3 87,707,803 (GRCm39) splice site probably null
R6039:Insrr UTSW 3 87,716,608 (GRCm39) missense possibly damaging 0.56
R6039:Insrr UTSW 3 87,716,608 (GRCm39) missense possibly damaging 0.56
R6047:Insrr UTSW 3 87,711,483 (GRCm39) missense probably damaging 1.00
R6276:Insrr UTSW 3 87,707,826 (GRCm39) nonsense probably null
R6298:Insrr UTSW 3 87,720,272 (GRCm39) missense probably damaging 1.00
R6726:Insrr UTSW 3 87,720,873 (GRCm39) missense probably damaging 1.00
R6727:Insrr UTSW 3 87,720,873 (GRCm39) missense probably damaging 1.00
R6728:Insrr UTSW 3 87,720,873 (GRCm39) missense probably damaging 1.00
R6796:Insrr UTSW 3 87,720,873 (GRCm39) missense probably damaging 1.00
R7041:Insrr UTSW 3 87,722,551 (GRCm39) missense probably damaging 1.00
R7169:Insrr UTSW 3 87,715,901 (GRCm39) missense probably benign 0.15
R7270:Insrr UTSW 3 87,710,440 (GRCm39) missense probably damaging 1.00
R7340:Insrr UTSW 3 87,721,623 (GRCm39) critical splice donor site probably null
R7398:Insrr UTSW 3 87,716,039 (GRCm39) missense probably damaging 1.00
R7473:Insrr UTSW 3 87,711,838 (GRCm39) splice site probably null
R7815:Insrr UTSW 3 87,716,002 (GRCm39) missense probably damaging 0.98
R8159:Insrr UTSW 3 87,707,735 (GRCm39) missense probably damaging 1.00
R8289:Insrr UTSW 3 87,721,501 (GRCm39) missense probably damaging 1.00
R8309:Insrr UTSW 3 87,717,749 (GRCm39) missense probably benign 0.00
R8312:Insrr UTSW 3 87,707,791 (GRCm39) missense possibly damaging 0.93
R8445:Insrr UTSW 3 87,720,891 (GRCm39) missense probably damaging 1.00
R8917:Insrr UTSW 3 87,718,276 (GRCm39) missense probably benign 0.00
R8960:Insrr UTSW 3 87,720,386 (GRCm39) missense probably damaging 1.00
R8989:Insrr UTSW 3 87,722,664 (GRCm39) missense probably damaging 0.96
R9015:Insrr UTSW 3 87,720,910 (GRCm39) missense probably damaging 1.00
R9202:Insrr UTSW 3 87,720,427 (GRCm39) missense probably damaging 1.00
R9251:Insrr UTSW 3 87,717,391 (GRCm39) missense probably benign 0.08
R9327:Insrr UTSW 3 87,721,604 (GRCm39) missense probably damaging 1.00
R9646:Insrr UTSW 3 87,721,805 (GRCm39) missense probably damaging 1.00
RF022:Insrr UTSW 3 87,711,792 (GRCm39) missense possibly damaging 0.51
Z1177:Insrr UTSW 3 87,708,134 (GRCm39) missense possibly damaging 0.91
Z1192:Insrr UTSW 3 87,709,886 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCACTCACTCAGATGTCTGG -3'
(R):5'- CGCTTTGGAGGAAGAAGGTC -3'

Sequencing Primer
(F):5'- CACTCACTCAGATGTCTGGTAGGG -3'
(R):5'- CCAAGGGTAGTGAGCACAGTG -3'
Posted On 2014-08-01