Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03099:Insr'

418659

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Insr

Ensembl Gene

ENSMUSG00000005534

Gene Name

insulin receptor

Synonyms

4932439J01Rik, D630014A15Rik, IR, IR-B, IR-A, CD220

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

IGL03099

Quality Score

Status

Chromosome

Chromosomal Location

3200922-3329649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3308715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 107 (T107K)

Ref Sequence

ENSEMBL: ENSMUSP00000088837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091291]

AlphaFold

P15208

PDB Structure

1.35A crystal structure of H-2Kb complexed with the GNYSFYAL peptide [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000091291
AA Change: T107K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088837
Gene: ENSMUSG00000005534
AA Change: T107K

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

noncoding transcript
Transcript: ENSMUST00000128662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139504

Coding Region Coverage

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	C	A	1: 87,055,328 (GRCm39)	F458L	probably benign	Het
Alpi	A	G	1: 87,026,353 (GRCm39)	L546P	unknown	Het
Arpc5l	A	G	2: 38,903,844 (GRCm39)	Y111C	probably damaging	Het
Atp11a	T	C	8: 12,877,462 (GRCm39)	F296S	possibly damaging	Het
Bbof1	C	T	12: 84,473,539 (GRCm39)	Q290*	probably null	Het
Brinp3	A	T	1: 146,777,835 (GRCm39)	T761S	possibly damaging	Het
Cyp2j6	A	T	4: 96,424,328 (GRCm39)	M143K	possibly damaging	Het
Daw1	T	C	1: 83,157,088 (GRCm39)		probably null	Het
Dst	A	G	1: 34,314,862 (GRCm39)	N6498D	probably damaging	Het
Fbxo15	T	C	18: 84,999,338 (GRCm39)	L380P	possibly damaging	Het
Glce	A	T	9: 61,967,344 (GRCm39)	F602L	probably benign	Het
Gpatch1	A	G	7: 34,996,948 (GRCm39)	S417P	possibly damaging	Het
Hjurp	T	C	1: 88,194,011 (GRCm39)	K223R	probably benign	Het
Hnrnpm	C	T	17: 33,888,146 (GRCm39)	C113Y	probably damaging	Het
Igkv4-71	T	C	6: 69,220,399 (GRCm39)	M11V	probably benign	Het
Mdm4	G	A	1: 132,919,947 (GRCm39)	T306M	probably damaging	Het
Nek11	T	C	9: 105,164,852 (GRCm39)	I425V	probably benign	Het
Otop3	T	A	11: 115,230,408 (GRCm39)	V95E	probably damaging	Het
Scn3a	G	A	2: 65,367,016 (GRCm39)	A2V	probably damaging	Het
Snx10	T	A	6: 51,556,840 (GRCm39)	M41K	possibly damaging	Het
Sos2	T	A	12: 69,663,133 (GRCm39)	N588Y	probably damaging	Het
Srrm3	C	A	5: 135,898,152 (GRCm39)		probably benign	Het
Tbc1d19	G	T	5: 54,040,997 (GRCm39)		probably benign	Het
Vmn2r68	T	A	7: 84,871,448 (GRCm39)	K612*	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
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
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

Posted On

2016-08-02