Incidental Mutation 'IGL02478:Insrr'
ID |
295035 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Insrr
|
Ensembl Gene |
ENSMUSG00000005640 |
Gene Name |
insulin receptor-related receptor |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
IGL02478
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
87704258-87723408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 87716719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 649
(G649D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103208
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029711]
[ENSMUST00000029714]
[ENSMUST00000090981]
[ENSMUST00000107582]
|
AlphaFold |
Q9WTL4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029711
AA Change: G649D
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000029711 Gene: ENSMUSG00000005640 AA Change: G649D
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: G649D
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000103208 Gene: ENSMUSG00000005640 AA Change: G649D
Domain | Start | End | E-Value | Type |
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
|
Coding Region Coverage |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
C |
A |
5: 8,856,018 (GRCm39) |
A42E |
probably damaging |
Het |
Agmo |
T |
A |
12: 37,451,985 (GRCm39) |
F247L |
probably damaging |
Het |
Arap1 |
C |
A |
7: 101,049,332 (GRCm39) |
|
probably null |
Het |
Arid1a |
T |
C |
4: 133,408,585 (GRCm39) |
D1974G |
unknown |
Het |
Asxl3 |
C |
T |
18: 22,656,070 (GRCm39) |
A1360V |
possibly damaging |
Het |
Celsr1 |
T |
A |
15: 85,825,337 (GRCm39) |
T1599S |
possibly damaging |
Het |
Chrdl2 |
T |
C |
7: 99,670,190 (GRCm39) |
|
probably null |
Het |
Csmd3 |
T |
C |
15: 47,701,794 (GRCm39) |
|
probably benign |
Het |
Dis3l |
C |
T |
9: 64,222,055 (GRCm39) |
E452K |
probably benign |
Het |
Dnajc2 |
A |
T |
5: 21,981,788 (GRCm39) |
H45Q |
probably damaging |
Het |
Eps8 |
G |
A |
6: 137,499,840 (GRCm39) |
P213L |
probably benign |
Het |
Erbb3 |
T |
A |
10: 128,407,227 (GRCm39) |
R978* |
probably null |
Het |
Exoc2 |
A |
T |
13: 31,111,403 (GRCm39) |
C142S |
probably benign |
Het |
Fam184b |
T |
C |
5: 45,695,039 (GRCm39) |
E735G |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,123,864 (GRCm39) |
V174A |
probably damaging |
Het |
Fat4 |
T |
C |
3: 38,942,364 (GRCm39) |
L419P |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,814,736 (GRCm39) |
V3490L |
probably benign |
Het |
Ftcd |
A |
T |
10: 76,417,255 (GRCm39) |
R255* |
probably null |
Het |
Galc |
T |
C |
12: 98,179,391 (GRCm39) |
N506S |
possibly damaging |
Het |
Gm20441 |
G |
T |
10: 75,608,644 (GRCm39) |
A26E |
probably damaging |
Het |
Gm21969 |
T |
G |
4: 139,367,999 (GRCm39) |
|
probably null |
Het |
Ifitm3 |
T |
A |
7: 140,589,787 (GRCm39) |
M89L |
possibly damaging |
Het |
Ift25 |
T |
A |
4: 107,132,449 (GRCm39) |
S79T |
probably benign |
Het |
Inmt |
T |
C |
6: 55,150,355 (GRCm39) |
E94G |
probably damaging |
Het |
Ivd |
T |
C |
2: 118,692,572 (GRCm39) |
L24P |
probably benign |
Het |
Kcnc1 |
A |
G |
7: 46,084,593 (GRCm39) |
N506D |
probably benign |
Het |
Krt39 |
T |
A |
11: 99,411,723 (GRCm39) |
D121V |
probably benign |
Het |
Lcp1 |
A |
G |
14: 75,461,536 (GRCm39) |
I510V |
probably benign |
Het |
Mkx |
C |
T |
18: 7,002,418 (GRCm39) |
V43M |
probably damaging |
Het |
Mmp2 |
A |
G |
8: 93,579,235 (GRCm39) |
N108S |
possibly damaging |
Het |
Mob1b |
T |
C |
5: 88,903,947 (GRCm39) |
|
probably benign |
Het |
Morc3 |
A |
G |
16: 93,661,844 (GRCm39) |
|
probably benign |
Het |
Myh13 |
T |
G |
11: 67,260,204 (GRCm39) |
S1881A |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,558,717 (GRCm39) |
E843G |
probably benign |
Het |
Ngef |
A |
G |
1: 87,408,301 (GRCm39) |
|
probably benign |
Het |
Or14c40 |
T |
A |
7: 86,313,344 (GRCm39) |
I158N |
probably damaging |
Het |
Osm |
A |
G |
11: 4,189,507 (GRCm39) |
Y97C |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,816,792 (GRCm39) |
L4556Q |
unknown |
Het |
Pcyox1l |
T |
C |
18: 61,830,780 (GRCm39) |
D364G |
probably benign |
Het |
Plekha6 |
T |
A |
1: 133,211,031 (GRCm39) |
V467E |
probably benign |
Het |
Qrsl1 |
A |
T |
10: 43,758,158 (GRCm39) |
S312T |
probably damaging |
Het |
Ripk1 |
T |
A |
13: 34,194,572 (GRCm39) |
L70Q |
probably damaging |
Het |
Rnaseh1 |
A |
T |
12: 28,705,662 (GRCm39) |
Y162F |
probably damaging |
Het |
Ror2 |
T |
A |
13: 53,275,703 (GRCm39) |
T195S |
probably damaging |
Het |
Sh3bp2 |
T |
C |
5: 34,709,006 (GRCm39) |
L33P |
probably damaging |
Het |
Skil |
T |
A |
3: 31,151,968 (GRCm39) |
C163* |
probably null |
Het |
Slc25a37 |
A |
T |
14: 69,486,883 (GRCm39) |
N133K |
probably benign |
Het |
Slitrk3 |
A |
C |
3: 72,958,046 (GRCm39) |
V242G |
probably damaging |
Het |
Sra1 |
A |
G |
18: 36,801,845 (GRCm39) |
S82P |
probably benign |
Het |
Synj2 |
A |
G |
17: 6,088,199 (GRCm39) |
N1417D |
probably benign |
Het |
Tas2r122 |
A |
G |
6: 132,688,578 (GRCm39) |
V105A |
possibly damaging |
Het |
Tasor2 |
T |
C |
13: 3,624,661 (GRCm39) |
E1763G |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,018,624 (GRCm39) |
N1261S |
probably benign |
Het |
Vmn2r69 |
A |
G |
7: 85,055,889 (GRCm39) |
S750P |
probably damaging |
Het |
Wdr95 |
A |
G |
5: 149,519,786 (GRCm39) |
T568A |
probably benign |
Het |
Zfp319 |
T |
A |
8: 96,055,721 (GRCm39) |
I161F |
possibly damaging |
Het |
|
Other mutations in Insrr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
Posted On |
2015-04-16 |