Incidental Mutation 'R1348:Insr'
ID 156564
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 039413-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.880) question?
Stock # R1348 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 3200922-3329649 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3242635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 28 (I28N)
Ref Sequence ENSEMBL: ENSMUSP00000146818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091291] [ENSMUST00000207100]
AlphaFold P15208
Predicted Effect probably damaging
Transcript: ENSMUST00000091291
AA Change: I593N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088837
Gene: ENSMUSG00000005534
AA Change: I593N

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 damaging
Transcript: ENSMUST00000207100
AA Change: I28N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.2%
  • 20x: 87.2%
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,593,212 (GRCm39) probably null Het
Art1 G A 7: 101,756,579 (GRCm39) A33T possibly damaging Het
Aspa G A 11: 73,215,309 (GRCm39) T2I probably damaging Het
Cntn1 C T 15: 92,212,544 (GRCm39) T902I probably damaging Het
Dpep1 G A 8: 123,925,899 (GRCm39) C118Y probably benign Het
Garin1a A G 6: 29,283,284 (GRCm39) H36R probably benign Het
Gucy2g C T 19: 55,211,338 (GRCm39) V631I possibly damaging Het
Igf1r C G 7: 67,868,216 (GRCm39) N1220K probably damaging Het
Katnal2 T C 18: 77,066,238 (GRCm39) probably null Het
Klrb1a T C 6: 128,586,797 (GRCm39) D156G possibly damaging Het
Kpna6 G A 4: 129,555,152 (GRCm39) R26* probably null Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Naa15 C G 3: 51,373,091 (GRCm39) C661W probably damaging Het
Or10g7 T C 9: 39,905,124 (GRCm39) I6T probably benign Het
Or1e1 G T 11: 73,244,682 (GRCm39) M34I probably benign Het
Or8g20 A G 9: 39,396,532 (GRCm39) S3P probably benign Het
Paxbp1 A G 16: 90,831,904 (GRCm39) V328A probably damaging Het
Pkd1l1 T C 11: 8,784,806 (GRCm39) T1993A probably benign Het
Pold1 C T 7: 44,184,106 (GRCm39) V865I probably benign Het
Racgap1 A G 15: 99,524,246 (GRCm39) I387T possibly damaging Het
Rbm15 G T 3: 107,239,946 (GRCm39) R151S possibly damaging Het
Rbms2 C T 10: 128,012,214 (GRCm39) probably null Het
Recql4 A G 15: 76,593,411 (GRCm39) I140T probably benign Het
Shld2 T A 14: 33,990,880 (GRCm39) I9F probably damaging Het
Sorl1 A T 9: 41,911,708 (GRCm39) probably null Het
Speg G A 1: 75,399,516 (GRCm39) G2321D probably damaging Het
Trp53tg5 A G 2: 164,315,521 (GRCm39) probably null Het
Tyw3 A C 3: 154,299,451 (GRCm39) M86R possibly damaging Het
Vmn1r11 G A 6: 57,114,963 (GRCm39) C209Y probably benign Het
Zfp472 T A 17: 33,196,794 (GRCm39) F290I 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
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
R1768:Insr UTSW 8 3,209,561 (GRCm39) missense probably damaging 1.00
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'- TGTCACAGAAGCTGCCTACCAAAG -3'
(R):5'- AGAGAACTCTCCAAGGTTCCCATCC -3'

Sequencing Primer
(F):5'- GCTGCCTACCAAAGATAATAGTGTC -3'
(R):5'- GCTTGACACTTACACAGTGG -3'
Posted On 2014-02-11