Incidental Mutation 'R1768:Insr'
ID 194590
Institutional Source Beutler Lab
Gene Symbol Insr
Ensembl Gene ENSMUSG00000005534
Gene Name insulin receptor
Synonyms 4932439J01Rik, D630014A15Rik, IR, IR-B, IR-A, CD220
MMRRC Submission 039799-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R1768 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 3200922-3329649 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3209561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1174 (I1174N)
Ref Sequence ENSEMBL: ENSMUSP00000088837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091291]
AlphaFold P15208
PDB Structure 1.35A crystal structure of H-2Kb complexed with the GNYSFYAL peptide [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000091291
AA Change: I1174N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088837
Gene: ENSMUSG00000005534
AA Change: I1174N

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Recep_L_domain 52 164 5e-28 PFAM
FU 231 274 1.66e-10 SMART
Pfam:Recep_L_domain 359 473 2.5e-30 PFAM
FN3 496 602 4.02e1 SMART
FN3 624 821 1.16e-6 SMART
FN3 841 924 3.17e-4 SMART
transmembrane domain 947 969 N/A INTRINSIC
TyrKc 1013 1280 3.11e-134 SMART
low complexity region 1303 1315 N/A INTRINSIC
low complexity region 1327 1336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000208839
Meta Mutation Damage Score 0.9482 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 91% (107/117)
MGI Phenotype FUNCTION: This gene encodes a member of the receptor tyrosine kinase family of transmembrane signaling proteins that play important roles in cell differentiation, growth and metabolism. The encoded preproprotein undergoes proteolytic processing to generate alpha and beta chains that form a disulfide-linked heterodimer which, in turn homodimerizes to form a mature, functional receptor. Mice lacking the encoded protein develop severe hyperglycemia and hyperketonemia, and die within a couple of days after birth as a result of diabetic ketoacidosis. [provided by RefSeq, Aug 2016]
PHENOTYPE: Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies. Point mutation heterozygotes exhibit hyperglycemia, hyperinsulinemia and glucosuria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik G C 18: 6,623,470 (GRCm39) R60P possibly damaging Het
Aox1 T A 1: 58,393,354 (GRCm39) C1199S probably benign Het
Arhgap18 G A 10: 26,763,857 (GRCm39) M482I probably damaging Het
Arhgap18 G T 10: 26,763,858 (GRCm39) A483S probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
BC051019 T C 7: 109,322,381 (GRCm39) T38A probably benign Het
Bcam T C 7: 19,499,543 (GRCm39) N192S probably null Het
Bend5 A T 4: 111,311,438 (GRCm39) K351* probably null Het
Bicdl2 T A 17: 23,884,923 (GRCm39) M208K probably damaging Het
Ccp110 A T 7: 118,325,247 (GRCm39) probably null Het
Cdc6 A T 11: 98,803,043 (GRCm39) T328S probably damaging Het
Cdk5rap2 G T 4: 70,225,470 (GRCm39) N558K probably benign Het
Cdkn1c C T 7: 143,012,858 (GRCm39) R146K probably benign Het
Ceacam18 G A 7: 43,297,918 (GRCm39) C371Y probably benign Het
Cep95 T A 11: 106,697,177 (GRCm39) C233* probably null Het
Chrnd A G 1: 87,122,650 (GRCm39) I144V probably benign Het
Col6a4 T A 9: 105,957,299 (GRCm39) Q175L probably benign Het
Cym A T 3: 107,120,816 (GRCm39) V263E probably damaging Het
Cyp2a4 G T 7: 26,012,197 (GRCm39) V327F possibly damaging Het
Dhx29 T A 13: 113,084,774 (GRCm39) M664K probably damaging Het
Dlec1 T G 9: 118,975,075 (GRCm39) probably null Het
Dna2 T C 10: 62,792,863 (GRCm39) Y293H probably benign Het
Dnase1l3 T A 14: 7,974,104 (GRCm38) N196Y probably damaging Het
Eea1 T A 10: 95,832,822 (GRCm39) D222E probably damaging Het
Efcab14 A T 4: 115,610,116 (GRCm39) probably null Het
Entpd5 C T 12: 84,432,985 (GRCm39) R189H probably benign Het
Exoc4 A T 6: 33,734,985 (GRCm39) K534M probably damaging Het
Extl1 T A 4: 134,098,449 (GRCm39) Y194F probably benign Het
Eya1 A G 1: 14,323,299 (GRCm39) L161S possibly damaging Het
Fam163b T C 2: 27,002,874 (GRCm39) E41G possibly damaging Het
Fam180a A C 6: 35,292,287 (GRCm39) S40A probably benign Het
Fbxl4 T C 4: 22,385,950 (GRCm39) S186P probably benign Het
Fbxw19 A T 9: 109,323,840 (GRCm39) L45* probably null Het
Fgf14 G T 14: 124,913,924 (GRCm39) T69N probably benign Het
Flt1 A G 5: 147,609,519 (GRCm39) Y432H probably damaging Het
Frmd4b A T 6: 97,283,725 (GRCm39) L374Q possibly damaging Het
G6pc2 T A 2: 69,053,321 (GRCm39) V125D probably damaging Het
Gm10033 T C 8: 69,826,210 (GRCm39) I119M unknown Het
Gna15 A T 10: 81,347,954 (GRCm39) L164Q probably damaging Het
Gnaz C A 10: 74,827,702 (GRCm39) D151E possibly damaging Het
Has1 T C 17: 18,070,562 (GRCm39) T120A probably benign Het
Hectd4 T A 5: 121,496,366 (GRCm39) D3919E possibly damaging Het
Hs3st5 A G 10: 36,709,165 (GRCm39) I233M probably benign Het
Ilf3 T C 9: 21,314,438 (GRCm39) probably benign Het
Inpp5b T A 4: 124,687,069 (GRCm39) L765* probably null Het
Kash5 T A 7: 44,838,227 (GRCm39) probably null Het
Kcnq3 A G 15: 65,877,755 (GRCm39) L445P probably damaging Het
Kctd20 A T 17: 29,181,824 (GRCm39) N159Y probably damaging Het
Kctd20 A T 17: 29,185,755 (GRCm39) D366V probably damaging Het
Klk15 T C 7: 43,587,757 (GRCm39) probably benign Het
Lama4 T G 10: 38,979,497 (GRCm39) N1658K possibly damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mas1 T C 17: 13,060,586 (GRCm39) Y279C probably damaging Het
Mast2 G T 4: 116,164,156 (GRCm39) D1747E probably damaging Het
Mest G A 6: 30,745,138 (GRCm39) M235I probably benign Het
Mfsd6 A G 1: 52,699,964 (GRCm39) probably null Het
Mllt10 T A 2: 18,167,657 (GRCm39) S449R probably damaging Het
Mon2 T A 10: 122,849,668 (GRCm39) T1211S probably benign Het
Mrnip G A 11: 50,067,688 (GRCm39) C27Y probably damaging Het
Myh15 A T 16: 48,983,498 (GRCm39) T1538S probably benign Het
Nfatc2ip A G 7: 125,989,634 (GRCm39) V250A probably benign Het
Npy1r A G 8: 67,157,177 (GRCm39) D199G possibly damaging Het
Numbl A G 7: 26,980,379 (GRCm39) T454A probably benign Het
Nutm2 T G 13: 50,627,152 (GRCm39) F436V probably damaging Het
Opa1 T C 16: 29,439,628 (GRCm39) S773P probably benign Het
Or12e1 T A 2: 87,022,042 (GRCm39) S4T probably benign Het
Or2d3 A T 7: 106,491,184 (GRCm39) probably null Het
Or2d3 G T 7: 106,491,185 (GRCm39) L44M probably damaging Het
Or2r11 A G 6: 42,437,611 (GRCm39) L114S probably damaging Het
Or2t48 A G 11: 58,420,602 (GRCm39) L70P probably damaging Het
Or51b17 A G 7: 103,542,484 (GRCm39) S153P probably benign Het
Or51m1 C T 7: 103,578,932 (GRCm39) R301* probably null Het
Or52e7 A G 7: 104,685,157 (GRCm39) S251G probably benign Het
Or52i2 A G 7: 102,319,508 (GRCm39) Y127C probably damaging Het
Or8b12c T A 9: 37,715,599 (GRCm39) Y131N probably damaging Het
Pde8a G C 7: 80,950,471 (GRCm39) probably null Het
Pgam1 T C 19: 41,906,144 (GRCm39) F232S probably damaging Het
Pgk1 T A X: 105,243,914 (GRCm39) V303E possibly damaging Het
Pirb A T 7: 3,720,189 (GRCm39) C395S probably damaging Het
Plxnc1 C T 10: 94,680,184 (GRCm39) V824I probably benign Het
Ppp6r1 A G 7: 4,636,691 (GRCm39) probably null Het
Rapgef4 C A 2: 72,056,131 (GRCm39) probably benign Het
Rars1 T A 11: 35,700,465 (GRCm39) T539S probably damaging Het
Rbm44 G T 1: 91,081,679 (GRCm39) probably null Het
Samd4b A G 7: 28,113,317 (GRCm39) I216T probably benign Het
Serpine2 A C 1: 79,794,532 (GRCm39) F134V probably damaging Het
Shmt1 A G 11: 60,683,790 (GRCm39) Y341H probably damaging Het
Slc23a2 C A 2: 131,917,561 (GRCm39) V226F probably benign Het
Slc23a4 A G 6: 34,933,896 (GRCm39) I69T probably damaging Het
Slc37a1 C A 17: 31,552,652 (GRCm39) T319K possibly damaging Het
Slc6a4 A T 11: 76,904,078 (GRCm39) T178S probably damaging Het
Smarca4 G A 9: 21,612,479 (GRCm39) A1588T possibly damaging Het
Spag17 A T 3: 99,934,668 (GRCm39) Y650F possibly damaging Het
Stab2 C T 10: 86,838,872 (GRCm39) G65S probably damaging Het
Stambpl1 C G 19: 34,204,121 (GRCm39) N70K probably damaging Het
Stip1 C A 19: 6,999,165 (GRCm39) C471F probably damaging Het
Taf1 T C X: 100,584,500 (GRCm39) S223P probably benign Het
Tchh C A 3: 93,350,882 (GRCm39) N107K possibly damaging Het
Tenm3 A C 8: 48,685,139 (GRCm39) H2432Q probably damaging Het
Tmem243 A G 5: 9,168,548 (GRCm39) N110S probably damaging Het
Toe1 A T 4: 116,662,076 (GRCm39) I306F probably benign Het
Trank1 G A 9: 111,221,995 (GRCm39) V2911M probably damaging Het
Trpm4 A G 7: 44,958,036 (GRCm39) I811T probably damaging Het
Tspear T A 10: 77,710,950 (GRCm39) probably null Het
Ttc28 A T 5: 111,425,034 (GRCm39) I1589F possibly damaging Het
Tubgcp3 A G 8: 12,699,686 (GRCm39) probably benign Het
U2af2 C A 7: 5,070,544 (GRCm39) R78S probably benign Het
Wdr17 A T 8: 55,126,689 (GRCm39) D388E possibly damaging Het
Wdr3 A T 3: 100,061,186 (GRCm39) S261T probably benign Het
Zfp667 A G 7: 6,308,066 (GRCm39) N245D possibly damaging Het
Zfp692 A G 11: 58,201,002 (GRCm39) probably benign Het
Zfp729a T C 13: 67,767,370 (GRCm39) H953R probably benign Het
Other mutations in Insr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Insr APN 8 3,308,682 (GRCm39) missense probably damaging 1.00
IGL01986:Insr APN 8 3,208,817 (GRCm39) missense probably damaging 1.00
IGL02135:Insr APN 8 3,308,741 (GRCm39) missense probably damaging 1.00
IGL02203:Insr APN 8 3,205,817 (GRCm39) missense probably benign 0.18
IGL02220:Insr APN 8 3,209,578 (GRCm39) missense probably damaging 1.00
IGL02678:Insr APN 8 3,223,570 (GRCm39) missense probably benign 0.00
IGL02961:Insr APN 8 3,308,785 (GRCm39) missense probably benign 0.08
IGL03099:Insr APN 8 3,308,715 (GRCm39) missense probably damaging 1.00
IGL03125:Insr APN 8 3,234,972 (GRCm39) missense possibly damaging 0.87
IGL03290:Insr APN 8 3,308,574 (GRCm39) missense probably damaging 1.00
gummi_bear UTSW 8 3,211,770 (GRCm39) missense probably damaging 1.00
jellybelly UTSW 8 3,308,841 (GRCm39) missense probably damaging 1.00
Patently UTSW 8 3,209,475 (GRCm39) missense probably damaging 1.00
trolli UTSW 8 3,248,111 (GRCm39) missense probably benign 0.31
R0047:Insr UTSW 8 3,252,947 (GRCm39) missense probably damaging 0.97
R0053:Insr UTSW 8 3,205,683 (GRCm39) missense probably damaging 1.00
R0053:Insr UTSW 8 3,205,683 (GRCm39) missense probably damaging 1.00
R0480:Insr UTSW 8 3,211,770 (GRCm39) missense probably damaging 1.00
R0748:Insr UTSW 8 3,308,841 (GRCm39) missense probably damaging 1.00
R0919:Insr UTSW 8 3,208,769 (GRCm39) missense probably damaging 1.00
R1348:Insr UTSW 8 3,242,635 (GRCm39) missense probably damaging 1.00
R1467:Insr UTSW 8 3,219,720 (GRCm39) missense probably damaging 0.99
R1467:Insr UTSW 8 3,219,720 (GRCm39) missense probably damaging 0.99
R1568:Insr UTSW 8 3,215,576 (GRCm39) missense probably benign
R2093:Insr UTSW 8 3,254,762 (GRCm39) missense probably damaging 1.00
R2111:Insr UTSW 8 3,219,748 (GRCm39) missense probably benign 0.17
R2112:Insr UTSW 8 3,219,748 (GRCm39) missense probably benign 0.17
R2352:Insr UTSW 8 3,242,593 (GRCm39) missense probably damaging 1.00
R2364:Insr UTSW 8 3,224,820 (GRCm39) missense probably benign
R2842:Insr UTSW 8 3,252,986 (GRCm39) missense probably damaging 1.00
R3162:Insr UTSW 8 3,211,416 (GRCm39) missense possibly damaging 0.65
R3162:Insr UTSW 8 3,211,416 (GRCm39) missense possibly damaging 0.65
R4081:Insr UTSW 8 3,261,391 (GRCm39) missense probably benign 0.00
R4441:Insr UTSW 8 3,244,902 (GRCm39) missense probably benign 0.00
R4672:Insr UTSW 8 3,217,501 (GRCm39) critical splice donor site probably null
R4687:Insr UTSW 8 3,211,709 (GRCm39) missense probably benign 0.42
R4708:Insr UTSW 8 3,261,346 (GRCm39) intron probably benign
R4890:Insr UTSW 8 3,248,234 (GRCm39) missense probably benign 0.16
R4949:Insr UTSW 8 3,235,059 (GRCm39) missense probably benign 0.04
R4996:Insr UTSW 8 3,242,665 (GRCm39) missense probably null 0.98
R5073:Insr UTSW 8 3,209,475 (GRCm39) missense probably damaging 1.00
R5176:Insr UTSW 8 3,208,742 (GRCm39) missense probably benign 0.03
R5200:Insr UTSW 8 3,248,059 (GRCm39) critical splice donor site probably null
R5323:Insr UTSW 8 3,252,902 (GRCm39) missense probably benign 0.02
R5453:Insr UTSW 8 3,205,694 (GRCm39) missense probably benign 0.06
R5516:Insr UTSW 8 3,205,764 (GRCm39) nonsense probably null
R5704:Insr UTSW 8 3,235,122 (GRCm39) missense possibly damaging 0.52
R5820:Insr UTSW 8 3,205,976 (GRCm39) missense probably damaging 1.00
R5879:Insr UTSW 8 3,248,173 (GRCm39) nonsense probably null
R5894:Insr UTSW 8 3,224,869 (GRCm39) missense possibly damaging 0.88
R5937:Insr UTSW 8 3,224,808 (GRCm39) missense probably benign
R5966:Insr UTSW 8 3,308,697 (GRCm39) missense probably benign 0.04
R6134:Insr UTSW 8 3,242,572 (GRCm39) missense probably damaging 1.00
R6352:Insr UTSW 8 3,223,479 (GRCm39) critical splice donor site probably null
R6423:Insr UTSW 8 3,223,566 (GRCm39) missense probably benign
R6687:Insr UTSW 8 3,248,111 (GRCm39) missense probably benign 0.31
R6985:Insr UTSW 8 3,211,372 (GRCm39) missense possibly damaging 0.87
R6993:Insr UTSW 8 3,308,752 (GRCm39) missense probably damaging 1.00
R7041:Insr UTSW 8 3,308,418 (GRCm39) missense probably benign
R7109:Insr UTSW 8 3,308,481 (GRCm39) missense probably benign 0.33
R7216:Insr UTSW 8 3,253,034 (GRCm39) missense possibly damaging 0.53
R7287:Insr UTSW 8 3,219,717 (GRCm39) missense probably benign 0.00
R7378:Insr UTSW 8 3,248,231 (GRCm39) missense probably damaging 1.00
R7525:Insr UTSW 8 3,242,642 (GRCm39) missense probably damaging 1.00
R7572:Insr UTSW 8 3,223,602 (GRCm39) missense probably benign 0.11
R7636:Insr UTSW 8 3,308,709 (GRCm39) missense probably damaging 1.00
R7684:Insr UTSW 8 3,219,753 (GRCm39) missense possibly damaging 0.85
R7840:Insr UTSW 8 3,308,415 (GRCm39) missense probably benign 0.04
R8075:Insr UTSW 8 3,205,862 (GRCm39) missense probably benign 0.17
R8161:Insr UTSW 8 3,308,660 (GRCm39) missense probably damaging 1.00
R8220:Insr UTSW 8 3,208,702 (GRCm39) missense probably benign 0.01
R8434:Insr UTSW 8 3,215,514 (GRCm39) splice site probably benign
R8810:Insr UTSW 8 3,219,714 (GRCm39) missense probably benign
R8865:Insr UTSW 8 3,211,358 (GRCm39) missense probably damaging 1.00
R8884:Insr UTSW 8 3,205,679 (GRCm39) missense probably benign
R9134:Insr UTSW 8 3,308,413 (GRCm39) missense probably damaging 1.00
R9359:Insr UTSW 8 3,208,717 (GRCm39) missense probably damaging 1.00
R9407:Insr UTSW 8 3,235,106 (GRCm39) missense probably benign
R9647:Insr UTSW 8 3,205,874 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TTCAGGAGTTCAAGCCCAGCAC -3'
(R):5'- AGGAGACCCCAAGTTTAGTCGAGAG -3'

Sequencing Primer
(F):5'- GAGTTCAAGCCCAGCACTAATATC -3'
(R):5'- GAAGGATGACAGCCCCTATTCTC -3'
Posted On 2014-05-23