Mutagenetix > Incidental Mutation

Incidental Mutation 'R5937:Insr'

462326

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

043242-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.880) question?

Stock #

R5937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3200922-3329649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3224808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 220 (V220A)

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: V773A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088837
Gene: ENSMUSG00000005534
AA Change: V773A

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: ENSMUST00000207100
AA Change: V220A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207295

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,791,495 (GRCm39)	W314R	probably benign	Het
Adgrv1	A	T	13: 81,255,194 (GRCm39)	V6143E	probably damaging	Het
Agap3	C	T	5: 24,682,815 (GRCm39)	T261I	probably damaging	Het
Ano6	T	C	15: 95,811,838 (GRCm39)	I241T	probably damaging	Het
Arhgef28	T	C	13: 98,076,051 (GRCm39)	T1328A	probably benign	Het
Capn10	C	T	1: 92,867,105 (GRCm39)	R112W	probably damaging	Het
Car5a	A	T	8: 122,666,560 (GRCm39)	W46R	probably damaging	Het
Cntn6	C	A	6: 104,810,064 (GRCm39)	T582K	possibly damaging	Het
Ctsh	T	C	9: 89,943,509 (GRCm39)	V60A	probably benign	Het
Ctsll3	A	G	13: 60,947,410 (GRCm39)	F259L	probably damaging	Het
Dennd2b	A	T	7: 109,156,478 (GRCm39)	C91S	possibly damaging	Het
Fam228a	T	C	12: 4,787,725 (GRCm39)	E16G	probably damaging	Het
G3bp2	A	G	5: 92,203,256 (GRCm39)	I388T	probably damaging	Het
Galnt5	A	T	2: 57,928,949 (GRCm39)	K926N	probably benign	Het
Gm10097	G	A	10: 5,019,485 (GRCm39)		probably benign	Het
Gm9978	T	A	10: 78,322,675 (GRCm39)		noncoding transcript	Het
Gria1	A	G	11: 57,080,559 (GRCm39)	T112A	probably benign	Het
Hnrnpk	A	C	13: 58,543,016 (GRCm39)	V134G	probably damaging	Het
Lhx4	A	G	1: 155,586,023 (GRCm39)	I96T	probably damaging	Het
Lrp1	T	C	10: 127,419,745 (GRCm39)	T955A	possibly damaging	Het
Lrtm1	T	C	14: 28,743,787 (GRCm39)	V85A	possibly damaging	Het
Man2a2	T	C	7: 80,013,251 (GRCm39)	Y514C	probably damaging	Het
Npas1	T	A	7: 16,197,187 (GRCm39)	D226V	probably benign	Het
Nrcam	G	A	12: 44,619,074 (GRCm39)	V858I	probably benign	Het
Or14c40	G	T	7: 86,313,684 (GRCm39)	L271F	probably benign	Het
Or5b108	T	A	19: 13,168,675 (GRCm39)	S215T	probably damaging	Het
Pde6b	G	T	5: 108,572,193 (GRCm39)	A478S	probably benign	Het
Pex1	T	A	5: 3,674,487 (GRCm39)	N789K	possibly damaging	Het
Plekha6	A	G	1: 133,187,839 (GRCm39)	D120G	possibly damaging	Het
Pomgnt1	A	G	4: 116,011,110 (GRCm39)	T220A	probably benign	Het
Sdr39u1	A	T	14: 56,135,364 (GRCm39)	I193K	probably damaging	Het
Sec61a2	C	A	2: 5,891,368 (GRCm39)	M54I	probably benign	Het
Sema5a	A	G	15: 32,574,987 (GRCm39)	Y365C	probably damaging	Het
Sra1	C	T	18: 36,804,652 (GRCm39)		probably null	Het
Taf5	C	T	19: 47,070,334 (GRCm39)	S640L	probably damaging	Het
Tas2r140	T	A	6: 133,032,236 (GRCm39)	H174L	probably benign	Het
Tmem63a	T	A	1: 180,788,716 (GRCm39)	V351D	probably damaging	Het
Ttll7	C	T	3: 146,649,847 (GRCm39)	Q626*	probably null	Het
Ubn2	T	A	6: 38,440,917 (GRCm39)	V263E	possibly damaging	Het
Vmn2r106	C	T	17: 20,505,667 (GRCm39)	W9*	probably null	Het
Xrcc3	C	G	12: 111,774,406 (GRCm39)	C141S	probably null	Het
Zfp516	T	A	18: 82,974,958 (GRCm39)	D385E	probably 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
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
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'- AGCTAGTCTGTGGCCAGTTG -3'
(R):5'- GTGTGGAAATTAATTTGTGTCCCC -3'

Sequencing Primer
(F):5'- ACCTTCAGGCATGGTCCG -3'
(R):5'- GGAAATTAATTTGTGTCCCCTGTACC -3'

Posted On

2017-02-28