Incidental Mutation 'R0357:Insrr'
ID 29861
Institutional Source Beutler Lab
Gene Symbol Insrr
Ensembl Gene ENSMUSG00000005640
Gene Name insulin receptor-related receptor
Synonyms
MMRRC Submission 038563-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R0357 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87704258-87723408 bp(+) (GRCm39)
Type of Mutation splice site (15578 bp from exon)
DNA Base Change (assembly) A to C at 87715953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000088503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029711] [ENSMUST00000029714] [ENSMUST00000090981] [ENSMUST00000107582]
AlphaFold Q9WTL4
Predicted Effect probably benign
Transcript: ENSMUST00000029711
AA Change: E549D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640
AA Change: E549D

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 null
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 null
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 benign
Transcript: ENSMUST00000107582
AA Change: E549D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640
AA Change: E549D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166771
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 99% (74/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 T C 5: 24,778,463 (GRCm39) K232E probably benign Het
AI837181 C T 19: 5,476,731 (GRCm39) T298I possibly damaging Het
Alox12 T C 11: 70,133,362 (GRCm39) Y614C probably damaging Het
Amn A T 12: 111,240,575 (GRCm39) probably null Het
Ankrd33b A G 15: 31,305,272 (GRCm39) S121P probably benign Het
Aox1 A G 1: 58,131,675 (GRCm39) Y1028C probably damaging Het
Asph C A 4: 9,453,314 (GRCm39) R736L probably benign Het
Atp2a3 G A 11: 72,861,757 (GRCm39) probably null Het
Cables2 T C 2: 179,904,025 (GRCm39) probably benign Het
Catsperg2 A T 7: 29,414,326 (GRCm39) Y360N possibly damaging Het
Cdh4 T C 2: 179,489,133 (GRCm39) S282P probably damaging Het
Col5a3 C T 9: 20,719,064 (GRCm39) probably benign Het
Ctso A T 3: 81,858,850 (GRCm39) probably benign Het
Cyp4f13 A T 17: 33,151,625 (GRCm39) Y125* probably null Het
Dapk1 T A 13: 60,877,372 (GRCm39) L537* probably null Het
Ddit4l G A 3: 137,331,946 (GRCm39) R104Q probably benign Het
Def6 C T 17: 28,442,909 (GRCm39) H322Y probably damaging Het
Dnaaf9 A T 2: 130,554,866 (GRCm39) probably benign Het
Dnah6 T C 6: 73,165,342 (GRCm39) N588D probably benign Het
Dzip1 T A 14: 119,146,950 (GRCm39) I320F probably damaging Het
Epb41l5 T C 1: 119,536,934 (GRCm39) H319R probably damaging Het
Erc2 A G 14: 27,498,979 (GRCm39) E285G probably damaging Het
Fat4 G A 3: 38,945,376 (GRCm39) G1423E probably damaging Het
Foxp2 C T 6: 15,409,839 (GRCm39) P480S probably damaging Het
Gadd45gip1 G A 8: 85,560,762 (GRCm39) A126T probably damaging Het
Gbp5 G A 3: 142,211,172 (GRCm39) D301N probably benign Het
Gm10360 T C 6: 70,401,297 (GRCm39) noncoding transcript Het
Gm6471 T A 7: 142,387,604 (GRCm39) noncoding transcript Het
Gm8674 T A 13: 50,056,149 (GRCm39) noncoding transcript Het
H2bc18 A C 3: 96,177,104 (GRCm39) K13Q probably null Het
Ift172 A G 5: 31,415,244 (GRCm39) S1322P possibly damaging Het
Ift80 A T 3: 68,821,986 (GRCm39) Y686* probably null Het
Itprid1 T A 6: 55,945,019 (GRCm39) M580K probably benign Het
Krt87 C T 15: 101,384,900 (GRCm39) V399M probably benign Het
Macf1 T C 4: 123,351,776 (GRCm39) N3708S probably damaging Het
Matcap1 A T 8: 106,011,699 (GRCm39) V222E probably damaging Het
Mogat1 T C 1: 78,488,677 (GRCm39) S27P probably benign Het
Mrgpra4 A T 7: 47,631,574 (GRCm39) M9K probably benign Het
Mtus1 A T 8: 41,536,563 (GRCm39) S384R possibly damaging Het
Myo1a T A 10: 127,546,771 (GRCm39) M306K probably benign Het
Noxa1 G T 2: 24,975,862 (GRCm39) D403E probably damaging Het
Ogdhl T C 14: 32,068,415 (GRCm39) V884A possibly damaging Het
Or10ak12 A C 4: 118,666,614 (GRCm39) L149R probably damaging Het
Or2y1f A G 11: 49,184,613 (GRCm39) N155S probably damaging Het
Or6k4 T A 1: 173,964,865 (GRCm39) L185* probably null Het
Or6n1 T C 1: 173,916,675 (GRCm39) V23A possibly damaging Het
Paxip1 G A 5: 27,963,621 (GRCm39) probably benign Het
Paxx T A 2: 25,350,079 (GRCm39) E145D probably damaging Het
Pde4d T C 13: 110,087,802 (GRCm39) V560A possibly damaging Het
Pheta2 C T 15: 82,227,517 (GRCm39) A12V probably damaging Het
Plxnd1 C T 6: 115,946,421 (GRCm39) V847M probably benign Het
Polk T A 13: 96,641,105 (GRCm39) M151L probably damaging Het
Ptprq C T 10: 107,522,060 (GRCm39) probably benign Het
Pum2 A G 12: 8,771,785 (GRCm39) Q371R possibly damaging Het
Reln G A 5: 22,155,820 (GRCm39) A2224V probably damaging Het
Rmc1 T C 18: 12,312,266 (GRCm39) S169P possibly damaging Het
Scart1 T G 7: 139,807,808 (GRCm39) C660G probably damaging Het
Shroom1 A G 11: 53,356,035 (GRCm39) T362A probably damaging Het
Smarcd2 A G 11: 106,158,158 (GRCm39) probably null Het
Spg11 A C 2: 121,896,713 (GRCm39) probably benign Het
Tcaf3 T A 6: 42,566,761 (GRCm39) Y776F probably damaging Het
Thada A G 17: 84,538,364 (GRCm39) V1548A probably damaging Het
Trpv2 C T 11: 62,481,130 (GRCm39) P410S probably damaging Het
Ube2u G T 4: 100,338,851 (GRCm39) E39* probably null Het
Ulbp3 A T 10: 3,070,307 (GRCm39) noncoding transcript Het
Ulbp3 A G 10: 3,075,788 (GRCm39) noncoding transcript Het
Vmn2r2 C T 3: 64,041,320 (GRCm39) probably null Het
Vmn2r24 TCC TC 6: 123,792,369 (GRCm39) probably null Het
Wdr87-ps A T 7: 29,235,007 (GRCm39) noncoding transcript Het
Zfp110 A G 7: 12,570,302 (GRCm39) Y43C probably damaging Het
Zfp605 A G 5: 110,272,245 (GRCm39) T55A probably benign 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
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
R1950:Insrr UTSW 3 87,721,820 (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'- GGCCACGATCATAAGCCATACAGTG -3'
(R):5'- AGCAGGCAATGTTCGCAGGTAG -3'

Sequencing Primer
(F):5'- GTTATAAGAATCCTGAGTCAGGCTG -3'
(R):5'- CAATGTTCGCAGGTAGACAATG -3'
Posted On 2013-04-24