Incidental Mutation 'R8312:Insrr'
ID 641421
Institutional Source Beutler Lab
Gene Symbol Insrr
Ensembl Gene ENSMUSG00000005640
Gene Name insulin receptor-related receptor
Synonyms
MMRRC Submission 067718-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R8312 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 87796951-87816101 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to G at 87800484 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 78 (Q78E)
Ref Sequence ENSEMBL: ENSMUSP00000029711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029711] [ENSMUST00000029714] [ENSMUST00000090981] [ENSMUST00000107582]
AlphaFold Q9WTL4
Predicted Effect possibly damaging
Transcript: ENSMUST00000029711
AA Change: Q78E

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640
AA Change: Q78E

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 possibly damaging
Transcript: ENSMUST00000107582
AA Change: Q78E

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640
AA Change: Q78E

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
Meta Mutation Damage Score 0.3833 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T C 12: 84,615,416 (GRCm38) R23G probably damaging Het
Abraxas2 A G 7: 132,876,600 (GRCm38) Y163C probably damaging Het
Acnat1 A T 4: 49,449,142 (GRCm38) L208* probably null Het
Agbl5 A G 5: 30,894,506 (GRCm38) E556G probably damaging Het
Ampd2 C A 3: 108,080,116 (GRCm38) V134L probably benign Het
Arih2 A G 9: 108,644,274 (GRCm38) S2P probably damaging Het
C87436 T A 6: 86,457,831 (GRCm38) L387Q probably damaging Het
Card9 A T 2: 26,357,789 (GRCm38) Y183* probably null Het
Cdk14 T C 5: 4,894,141 (GRCm38) D394G probably benign Het
Cep135 C T 5: 76,636,899 (GRCm38) S947L probably damaging Het
Cfb T C 17: 34,858,145 (GRCm38) K505E probably benign Het
Cnot4 T A 6: 35,023,141 (GRCm38) D708V probably damaging Het
Col16a1 T A 4: 130,054,451 (GRCm38) L281M unknown Het
Col6a3 G T 1: 90,813,690 (GRCm38) D673E possibly damaging Het
Ctdnep1 G A 11: 69,988,701 (GRCm38) S150N probably benign Het
Fanca T A 8: 123,269,810 (GRCm38) probably benign Het
Fras1 T A 5: 96,588,191 (GRCm38) N548K probably benign Het
Gbp2b C A 3: 142,599,054 (GRCm38) P84T probably damaging Het
Gbp2b A G 3: 142,599,051 (GRCm38) M83V probably benign Het
Gli2 A T 1: 118,868,112 (GRCm38) probably benign Het
Greb1l A G 18: 10,511,587 (GRCm38) probably benign Het
Grn A C 11: 102,436,247 (GRCm38) K557T probably damaging Het
Hapln1 C T 13: 89,601,444 (GRCm38) A36V probably benign Het
Heg1 C T 16: 33,726,675 (GRCm38) R635W probably benign Het
Hivep1 C A 13: 42,155,177 (GRCm38) Q298K possibly damaging Het
Hmcn1 A G 1: 150,738,764 (GRCm38) I1297T probably damaging Het
Hp1bp3 T A 4: 138,223,439 (GRCm38) probably benign Het
Htr4 C G 18: 62,437,478 (GRCm38) F201L probably damaging Het
Itga6 A T 2: 71,855,953 (GRCm38) M1072L probably benign Het
Kdsr A G 1: 106,747,486 (GRCm38) probably null Het
Klhl7 T C 5: 24,134,967 (GRCm38) I149T probably damaging Het
Lce1l G C 3: 92,850,459 (GRCm38) P31A unknown Het
Mag T C 7: 30,911,469 (GRCm38) Y116C probably damaging Het
Mast2 A G 4: 116,430,486 (GRCm38) S131P probably benign Het
Mlec C A 5: 115,150,207 (GRCm38) probably null Het
Mrap2 G A 9: 87,169,659 (GRCm38) probably null Het
Myo5b A G 18: 74,733,962 (GRCm38) K1395E probably damaging Het
Nipa2 G A 7: 55,933,302 (GRCm38) Q232* probably null Het
Nsd3 C T 8: 25,663,252 (GRCm38) T536M probably damaging Het
Oit3 T C 10: 59,438,810 (GRCm38) N56S probably benign Het
Olfr155 A T 4: 43,854,461 (GRCm38) I51F probably benign Het
Olfr165 T C 16: 19,407,237 (GRCm38) M260V probably benign Het
Olfr9 A G 10: 128,990,478 (GRCm38) T189A probably benign Het
Pax3 C T 1: 78,195,369 (GRCm38) R68Q probably damaging Het
Pcnx2 G T 8: 125,762,850 (GRCm38) H1668Q possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm38) probably benign Het
Pkd1 A G 17: 24,567,128 (GRCm38) S463G probably benign Het
Plb1 C T 5: 32,328,485 (GRCm38) T871M probably damaging Het
Prdx1 A G 4: 116,699,201 (GRCm38) D182G possibly damaging Het
Prkch T A 12: 73,760,584 (GRCm38) F593I noncoding transcript Het
Psrc1 C T 3: 108,386,357 (GRCm38) P194L probably benign Het
Ptp4a2 A T 4: 129,839,634 (GRCm38) I18L probably benign Het
Samd10 A T 2: 181,596,875 (GRCm38) L153H probably damaging Het
Shc3 T G 13: 51,442,718 (GRCm38) H423P probably damaging Het
Siae A T 9: 37,646,297 (GRCm38) I467F Het
Slc27a5 C T 7: 12,991,287 (GRCm38) R411Q probably damaging Het
Spata24 A G 18: 35,660,808 (GRCm38) I56T probably benign Het
Spns3 G A 11: 72,499,708 (GRCm38) T407M probably damaging Het
Spta1 G A 1: 174,240,211 (GRCm38) C2068Y probably damaging Het
Svs2 C A 2: 164,238,171 (GRCm38) G25W probably damaging Het
Thsd7a T C 6: 12,471,182 (GRCm38) D479G Het
Trhde T C 10: 114,413,287 (GRCm38) Y858C probably damaging Het
Ttn G A 2: 76,951,648 (GRCm38) R1057C unknown Het
Tulp4 G T 17: 6,207,058 (GRCm38) probably null Het
Tyk2 T C 9: 21,115,649 (GRCm38) T613A possibly damaging Het
Ugt2b37 T C 5: 87,242,940 (GRCm38) K356R probably benign Het
Vmn1r39 A G 6: 66,804,857 (GRCm38) V159A noncoding transcript Het
Vps35 A G 8: 85,274,869 (GRCm38) V440A possibly damaging Het
Zmym6 A G 4: 127,123,834 (GRCm38) N1136S probably damaging Het
Other mutations in Insrr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Insrr APN 3 87,813,674 (GRCm38) critical splice donor site probably null
IGL00801:Insrr APN 3 87,813,808 (GRCm38) missense probably damaging 1.00
IGL01628:Insrr APN 3 87,800,792 (GRCm38) nonsense probably null
IGL01755:Insrr APN 3 87,814,186 (GRCm38) missense probably damaging 1.00
IGL02100:Insrr APN 3 87,811,620 (GRCm38) missense probably damaging 1.00
IGL02261:Insrr APN 3 87,800,722 (GRCm38) missense probably damaging 1.00
IGL02366:Insrr APN 3 87,809,909 (GRCm38) missense possibly damaging 0.91
IGL02387:Insrr APN 3 87,813,127 (GRCm38) missense probably damaging 1.00
IGL02478:Insrr APN 3 87,809,412 (GRCm38) missense probably benign 0.14
IGL02550:Insrr APN 3 87,804,498 (GRCm38) missense probably damaging 1.00
IGL02555:Insrr APN 3 87,813,817 (GRCm38) missense probably damaging 0.99
IGL02673:Insrr APN 3 87,813,061 (GRCm38) missense possibly damaging 0.95
IGL02724:Insrr APN 3 87,809,572 (GRCm38) missense probably benign 0.31
IGL02798:Insrr APN 3 87,810,517 (GRCm38) missense probably damaging 1.00
IGL02969:Insrr APN 3 87,814,191 (GRCm38) nonsense probably null
IGL03073:Insrr APN 3 87,809,938 (GRCm38) splice site probably benign
IGL03178:Insrr APN 3 87,802,541 (GRCm38) splice site probably null
IGL03389:Insrr APN 3 87,808,731 (GRCm38) missense probably damaging 1.00
IGL03399:Insrr APN 3 87,809,331 (GRCm38) missense probably null 0.99
IGL02799:Insrr UTSW 3 87,813,581 (GRCm38) missense probably damaging 1.00
R0011:Insrr UTSW 3 87,809,616 (GRCm38) missense possibly damaging 0.86
R0053:Insrr UTSW 3 87,800,452 (GRCm38) missense probably damaging 1.00
R0053:Insrr UTSW 3 87,800,452 (GRCm38) missense probably damaging 1.00
R0357:Insrr UTSW 3 87,808,646 (GRCm38) splice site probably null
R0501:Insrr UTSW 3 87,810,684 (GRCm38) missense probably benign 0.12
R0504:Insrr UTSW 3 87,813,156 (GRCm38) missense possibly damaging 0.69
R0522:Insrr UTSW 3 87,800,872 (GRCm38) missense probably damaging 1.00
R0555:Insrr UTSW 3 87,814,437 (GRCm38) splice site probably benign
R0558:Insrr UTSW 3 87,810,981 (GRCm38) missense possibly damaging 0.77
R0599:Insrr UTSW 3 87,813,133 (GRCm38) missense probably damaging 0.97
R1312:Insrr UTSW 3 87,800,490 (GRCm38) missense probably damaging 1.00
R1694:Insrr UTSW 3 87,804,062 (GRCm38) missense probably benign
R1785:Insrr UTSW 3 87,810,572 (GRCm38) splice site probably null
R1786:Insrr UTSW 3 87,810,572 (GRCm38) splice site probably null
R1892:Insrr UTSW 3 87,813,877 (GRCm38) missense probably damaging 1.00
R1950:Insrr UTSW 3 87,814,513 (GRCm38) missense probably damaging 1.00
R2080:Insrr UTSW 3 87,814,291 (GRCm38) missense possibly damaging 0.79
R2094:Insrr UTSW 3 87,803,181 (GRCm38) missense probably damaging 1.00
R2130:Insrr UTSW 3 87,810,572 (GRCm38) splice site probably null
R2131:Insrr UTSW 3 87,810,572 (GRCm38) splice site probably null
R2133:Insrr UTSW 3 87,810,572 (GRCm38) splice site probably null
R2220:Insrr UTSW 3 87,809,418 (GRCm38) missense probably damaging 1.00
R2259:Insrr UTSW 3 87,800,452 (GRCm38) missense probably damaging 1.00
R2404:Insrr UTSW 3 87,802,667 (GRCm38) missense possibly damaging 0.71
R4027:Insrr UTSW 3 87,809,599 (GRCm38) missense probably benign
R4042:Insrr UTSW 3 87,813,827 (GRCm38) missense probably damaging 1.00
R4510:Insrr UTSW 3 87,808,671 (GRCm38) missense possibly damaging 0.67
R4511:Insrr UTSW 3 87,808,671 (GRCm38) missense possibly damaging 0.67
R4571:Insrr UTSW 3 87,800,887 (GRCm38) missense probably benign
R4870:Insrr UTSW 3 87,811,604 (GRCm38) missense probably damaging 1.00
R5057:Insrr UTSW 3 87,815,265 (GRCm38) missense probably benign 0.00
R5393:Insrr UTSW 3 87,810,700 (GRCm38) splice site probably null
R5685:Insrr UTSW 3 87,800,496 (GRCm38) splice site probably null
R6039:Insrr UTSW 3 87,809,301 (GRCm38) missense possibly damaging 0.56
R6039:Insrr UTSW 3 87,809,301 (GRCm38) missense possibly damaging 0.56
R6047:Insrr UTSW 3 87,804,176 (GRCm38) missense probably damaging 1.00
R6276:Insrr UTSW 3 87,800,519 (GRCm38) nonsense probably null
R6298:Insrr UTSW 3 87,812,965 (GRCm38) missense probably damaging 1.00
R6726:Insrr UTSW 3 87,813,566 (GRCm38) missense probably damaging 1.00
R6727:Insrr UTSW 3 87,813,566 (GRCm38) missense probably damaging 1.00
R6728:Insrr UTSW 3 87,813,566 (GRCm38) missense probably damaging 1.00
R6796:Insrr UTSW 3 87,813,566 (GRCm38) missense probably damaging 1.00
R7041:Insrr UTSW 3 87,815,244 (GRCm38) missense probably damaging 1.00
R7169:Insrr UTSW 3 87,808,594 (GRCm38) missense probably benign 0.15
R7270:Insrr UTSW 3 87,803,133 (GRCm38) missense probably damaging 1.00
R7340:Insrr UTSW 3 87,814,316 (GRCm38) critical splice donor site probably null
R7398:Insrr UTSW 3 87,808,732 (GRCm38) missense probably damaging 1.00
R7473:Insrr UTSW 3 87,804,531 (GRCm38) splice site probably null
R7815:Insrr UTSW 3 87,808,695 (GRCm38) missense probably damaging 0.98
R8159:Insrr UTSW 3 87,800,428 (GRCm38) missense probably damaging 1.00
R8289:Insrr UTSW 3 87,814,194 (GRCm38) missense probably damaging 1.00
R8309:Insrr UTSW 3 87,810,442 (GRCm38) missense probably benign 0.00
R8445:Insrr UTSW 3 87,813,584 (GRCm38) missense probably damaging 1.00
R8917:Insrr UTSW 3 87,810,969 (GRCm38) missense probably benign 0.00
R8960:Insrr UTSW 3 87,813,079 (GRCm38) missense probably damaging 1.00
R8989:Insrr UTSW 3 87,815,357 (GRCm38) missense probably damaging 0.96
R9015:Insrr UTSW 3 87,813,603 (GRCm38) missense probably damaging 1.00
R9202:Insrr UTSW 3 87,813,120 (GRCm38) missense probably damaging 1.00
R9251:Insrr UTSW 3 87,810,084 (GRCm38) missense probably benign 0.08
R9327:Insrr UTSW 3 87,814,297 (GRCm38) missense probably damaging 1.00
R9646:Insrr UTSW 3 87,814,498 (GRCm38) missense probably damaging 1.00
RF022:Insrr UTSW 3 87,804,485 (GRCm38) missense possibly damaging 0.51
Z1177:Insrr UTSW 3 87,800,827 (GRCm38) missense possibly damaging 0.91
Z1192:Insrr UTSW 3 87,802,579 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGCTCTTGGTCTGCACTG -3'
(R):5'- ATGGCAAAGTTCCTGGTTCTTC -3'

Sequencing Primer
(F):5'- AGGCTCTTGGTCTGCACTGTATTC -3'
(R):5'- TTCTCCACACGCACGGC -3'
Posted On 2020-07-28