Incidental Mutation 'R5704:Insr'
| ID |
451858 |
| 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 |
043329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.880)
|
| Stock # |
R5704 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
3200922-3329649 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3235122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 124
(P124L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091291]
[ENSMUST00000207100]
|
| AlphaFold |
P15208 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091291
AA Change: P689L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088837
Gene: ENSMUSG00000005534
AA Change: P689L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000207100
AA Change: P124L
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207295
|
| Meta Mutation Damage Score |
0.1234 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (85/87) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,769,606 (GRCm39) |
S617P |
probably benign |
Het |
| Ahi1 |
A |
C |
10: 20,950,326 (GRCm39) |
M126L |
probably benign |
Het |
| Alk |
T |
C |
17: 72,910,115 (GRCm39) |
E197G |
probably damaging |
Het |
| Alyref2 |
A |
T |
1: 171,331,547 (GRCm39) |
Y108F |
probably damaging |
Het |
| Ankrd26 |
T |
G |
6: 118,500,843 (GRCm39) |
H876P |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,808 (GRCm39) |
T1298A |
probably damaging |
Het |
| Arhgap33 |
T |
A |
7: 30,219,045 (GRCm39) |
|
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,530,548 (GRCm39) |
S1413P |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,409,050 (GRCm39) |
V1819E |
unknown |
Het |
| Asprv1 |
A |
G |
6: 86,605,532 (GRCm39) |
N126S |
probably damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,949,418 (GRCm39) |
Y43C |
probably damaging |
Het |
| Atp13a3 |
G |
T |
16: 30,140,697 (GRCm39) |
T1160K |
probably benign |
Het |
| Atp1a3 |
T |
C |
7: 24,696,736 (GRCm39) |
T272A |
probably damaging |
Het |
| Bpifa3 |
G |
T |
2: 153,979,562 (GRCm39) |
|
probably null |
Het |
| Bri3 |
T |
C |
5: 144,192,716 (GRCm39) |
V80A |
probably damaging |
Het |
| Ccdc28a |
T |
A |
10: 18,106,320 (GRCm39) |
E2V |
probably damaging |
Het |
| Ccdc7a |
T |
A |
8: 129,706,577 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
G |
A |
2: 132,135,249 (GRCm39) |
V47I |
probably benign |
Het |
| Cela2a |
G |
A |
4: 141,553,299 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,406,548 (GRCm39) |
Y783C |
probably damaging |
Het |
| Cmtr1 |
G |
C |
17: 29,882,217 (GRCm39) |
A23P |
possibly damaging |
Het |
| Crym |
C |
A |
7: 119,801,163 (GRCm39) |
|
probably null |
Het |
| Def6 |
T |
G |
17: 28,447,200 (GRCm39) |
D610E |
probably benign |
Het |
| Dnajc15 |
T |
C |
14: 78,063,898 (GRCm39) |
Y130C |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,151,586 (GRCm39) |
V1560I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,918,003 (GRCm39) |
V1501A |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,347,379 (GRCm39) |
S1049P |
probably damaging |
Het |
| Gm4952 |
G |
T |
19: 12,604,275 (GRCm39) |
R229L |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,455,707 (GRCm39) |
H548Q |
probably benign |
Het |
| Gspt1 |
A |
T |
16: 11,046,057 (GRCm39) |
D449E |
possibly damaging |
Het |
| Gtf3c2 |
T |
A |
5: 31,316,454 (GRCm39) |
D732V |
probably damaging |
Het |
| Hax1 |
T |
A |
3: 89,903,403 (GRCm39) |
Q168L |
probably damaging |
Het |
| Hectd2 |
T |
A |
19: 36,576,291 (GRCm39) |
S91T |
possibly damaging |
Het |
| Igfbp2 |
T |
A |
1: 72,891,303 (GRCm39) |
H300Q |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,269,197 (GRCm39) |
N538S |
possibly damaging |
Het |
| Irak3 |
C |
A |
10: 119,981,594 (GRCm39) |
R437L |
probably benign |
Het |
| Jhy |
C |
T |
9: 40,808,734 (GRCm39) |
V676I |
probably damaging |
Het |
| Kcns3 |
G |
A |
12: 11,142,328 (GRCm39) |
R124C |
probably benign |
Het |
| Lactb |
G |
A |
9: 66,863,058 (GRCm39) |
R519* |
probably null |
Het |
| Mdfic |
G |
A |
6: 15,770,291 (GRCm39) |
G94D |
probably damaging |
Het |
| Mospd3 |
A |
G |
5: 137,598,613 (GRCm39) |
V42A |
possibly damaging |
Het |
| Mov10 |
A |
G |
3: 104,706,912 (GRCm39) |
V666A |
probably benign |
Het |
| Mucl1 |
T |
C |
15: 103,785,663 (GRCm39) |
I15V |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,828,392 (GRCm39) |
V268D |
possibly damaging |
Het |
| Myo5c |
T |
A |
9: 75,180,185 (GRCm39) |
S709T |
probably benign |
Het |
| Nol11 |
T |
A |
11: 107,064,195 (GRCm39) |
E519V |
probably benign |
Het |
| Nrp2 |
A |
T |
1: 62,824,267 (GRCm39) |
I791L |
probably benign |
Het |
| Nudt19 |
A |
G |
7: 35,250,972 (GRCm39) |
Y256H |
probably benign |
Het |
| Nudt8 |
C |
T |
19: 4,050,777 (GRCm39) |
R42C |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,369 (GRCm39) |
L140P |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,685 (GRCm39) |
I34F |
probably benign |
Het |
| Pcdhga12 |
A |
G |
18: 37,900,422 (GRCm39) |
Y418C |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,784,422 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
T |
C |
15: 12,385,761 (GRCm39) |
D1003G |
probably benign |
Het |
| Pglyrp4 |
T |
A |
3: 90,647,581 (GRCm39) |
|
probably null |
Het |
| Phip |
T |
C |
9: 82,753,408 (GRCm39) |
N1779D |
probably damaging |
Het |
| Postn |
G |
T |
3: 54,279,527 (GRCm39) |
C335F |
probably damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,049,619 (GRCm39) |
|
probably benign |
Het |
| Prrt2 |
C |
T |
7: 126,618,590 (GRCm39) |
V292M |
probably damaging |
Het |
| Rpl18 |
T |
C |
7: 45,370,146 (GRCm39) |
V138A |
possibly damaging |
Het |
| Rps14 |
G |
A |
18: 60,910,205 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,533,956 (GRCm39) |
|
probably null |
Het |
| Siah2 |
T |
G |
3: 58,583,821 (GRCm39) |
K155T |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc25a39 |
T |
A |
11: 102,294,220 (GRCm39) |
|
probably benign |
Het |
| Slco1a7 |
T |
C |
6: 141,658,980 (GRCm39) |
M539V |
probably benign |
Het |
| Smok2b |
T |
A |
17: 13,455,231 (GRCm39) |
C464S |
probably damaging |
Het |
| Spata31 |
G |
A |
13: 65,069,855 (GRCm39) |
V668I |
probably benign |
Het |
| Tbxas1 |
C |
A |
6: 38,998,067 (GRCm39) |
H212N |
probably benign |
Het |
| Tenm1 |
A |
G |
X: 42,163,572 (GRCm39) |
V107A |
possibly damaging |
Het |
| Thada |
C |
T |
17: 84,538,329 (GRCm39) |
A1560T |
probably benign |
Het |
| Tmem241 |
G |
C |
18: 12,197,263 (GRCm39) |
F65L |
probably damaging |
Het |
| Ttc16 |
C |
G |
2: 32,659,137 (GRCm39) |
E321Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,748,929 (GRCm39) |
L4040H |
possibly damaging |
Het |
| Tyw1 |
G |
A |
5: 130,310,863 (GRCm39) |
W437* |
probably null |
Het |
| Unc79 |
T |
A |
12: 102,968,202 (GRCm39) |
Y143N |
probably damaging |
Het |
| Urb2 |
C |
T |
8: 124,764,921 (GRCm39) |
R1310W |
probably damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,317,370 (GRCm39) |
I34V |
probably benign |
Het |
| Zfp513 |
C |
T |
5: 31,358,010 (GRCm39) |
C121Y |
possibly damaging |
Het |
| Zfp606 |
T |
G |
7: 12,227,456 (GRCm39) |
W468G |
probably damaging |
Het |
| Zfyve16 |
C |
T |
13: 92,640,979 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Insr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
|
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'- GTCATGGCACCAAGCTAACAG -3'
(R):5'- ACCGAGAAAGCACTGTGGTG -3'
Sequencing Primer
(F):5'- TGCAAAGCTCTGACCTGG -3'
(R):5'- CACTGTGGTGCTGTGTGTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation