Mutagenetix > Incidental Mutation

Incidental Mutation 'R5453:Insr'

432631

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

043017-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R5453 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3200922-3329649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3205694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1365 (T1365I)

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 benign
Transcript: ENSMUST00000091291
AA Change: T1365I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000088837
Gene: ENSMUSG00000005534
AA Change: T1365I

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

probably benign
Transcript: ENSMUST00000208839

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,210,622 (GRCm39)	Q186*	probably null	Het
Adamts20	T	C	15: 94,223,969 (GRCm39)	E1253G	possibly damaging	Het
Adgrd1	T	C	5: 129,256,647 (GRCm39)	F640S	probably damaging	Het
Anxa1	C	T	19: 20,357,703 (GRCm39)		probably null	Het
Babam2	A	G	5: 32,164,590 (GRCm39)	E288G	probably damaging	Het
Cd163	C	T	6: 124,289,500 (GRCm39)	A406V	probably damaging	Het
Cdh13	A	T	8: 119,925,706 (GRCm39)	D358V	probably damaging	Het
Cdk10	A	G	8: 123,953,131 (GRCm39)	I45V	probably benign	Het
Crybg2	A	T	4: 133,806,147 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,359,330 (GRCm39)	D3555G	probably damaging	Het
Dync1h1	A	G	12: 110,599,099 (GRCm39)	D1818G	probably benign	Het
Emsy	T	C	7: 98,250,013 (GRCm39)	K758R	probably damaging	Het
Fat3	A	G	9: 15,908,160 (GRCm39)	V2614A	probably damaging	Het
Hivep2	T	C	10: 14,003,972 (GRCm39)	I190T	possibly damaging	Het
Hoxb3	T	C	11: 96,235,480 (GRCm39)	S136P	probably damaging	Het
Hras	A	C	7: 140,772,768 (GRCm39)	V29G	probably damaging	Het
Hycc1	A	G	5: 24,192,877 (GRCm39)		probably null	Het
Igll1	A	G	16: 16,681,558 (GRCm39)		probably null	Het
Kitl	T	A	10: 99,923,247 (GRCm39)	W187R	probably damaging	Het
Klb	T	A	5: 65,540,728 (GRCm39)	F940L	probably benign	Het
Lrp1b	C	T	2: 41,172,249 (GRCm39)	R725K	probably damaging	Het
Map4	C	T	9: 109,866,851 (GRCm39)		probably benign	Het
Mrps35	A	G	6: 146,972,115 (GRCm39)	S253G	probably benign	Het
Mycbp2	C	T	14: 103,438,837 (GRCm39)	E2015K	probably damaging	Het
Nyap2	A	C	1: 81,169,857 (GRCm39)	I205L	probably benign	Het
Or12d13	T	C	17: 37,647,953 (GRCm39)	M57V	possibly damaging	Het
Or6k14	A	G	1: 173,927,033 (GRCm39)	K3R	probably benign	Het
Rab11fip3	C	T	17: 26,211,555 (GRCm39)		probably null	Het
Rbm47	A	G	5: 66,184,525 (GRCm39)	V26A	probably benign	Het
Ripk2	A	T	4: 16,151,989 (GRCm39)	I190N	probably damaging	Het
Spmip4	A	G	6: 50,572,776 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttc17	A	T	2: 94,133,905 (GRCm39)	N1150K	probably damaging	Het
Zfp108	G	T	7: 23,960,689 (GRCm39)	G427W	probably damaging	Het
Zfp84	A	G	7: 29,475,722 (GRCm39)	E138G	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TTACAGGGTTGGCGATCAC -3'
(R):5'- ACAAGGCTCCTGAGAGTGAG -3'

Sequencing Primer
(F):5'- CTTGTGTGTTTTCAGGTCAAAAGAC -3'
(R):5'- TCCTGAGAGTGAGGAGCTG -3'

Posted On

2016-10-06