Mutagenetix > Incidental Mutation

Incidental Mutation 'R6423:Insr'

518239

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

044386-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.880) question?

Stock #

R6423 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3200922-3329649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3223566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 856 (V856I)

Ref Sequence

ENSEMBL: ENSMUSP00000088837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091291] [ENSMUST00000207100]

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: V856I

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

SMART Domains

Protein: ENSMUSP00000088837
Gene: ENSMUSG00000005534
AA Change: V856I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207295

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,778 (GRCm39)	M2842L	probably benign	Het
Actl7b	T	C	4: 56,741,213 (GRCm39)	I48M	probably benign	Het
Adgrb1	G	T	15: 74,459,992 (GRCm39)		probably null	Het
Arhgap10	G	T	8: 78,244,386 (GRCm39)	S9R	probably damaging	Het
Bcl11b	T	C	12: 107,881,678 (GRCm39)	E807G	possibly damaging	Het
Chia1	A	G	3: 106,036,304 (GRCm39)	T295A	possibly damaging	Het
Cnrip1	T	C	11: 17,002,350 (GRCm39)		probably null	Het
Ets1	A	G	9: 32,649,611 (GRCm39)	K316R	probably damaging	Het
Fbxo4	C	T	15: 3,995,274 (GRCm39)	V357I	possibly damaging	Het
Flnc	G	A	6: 29,445,155 (GRCm39)		probably null	Het
Foxf1	G	A	8: 121,811,834 (GRCm39)	G233R	possibly damaging	Het
H2-DMa	A	G	17: 34,356,170 (GRCm39)	I57M	probably benign	Het
Iqub	T	C	6: 24,491,528 (GRCm39)	D386G	probably damaging	Het
Kcna3	C	A	3: 106,944,158 (GRCm39)	Y140*	probably null	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Mgam	A	G	6: 40,653,979 (GRCm39)	Y844C	possibly damaging	Het
Nbeal2	T	C	9: 110,455,062 (GRCm39)	Q2605R	probably damaging	Het
Ncor2	A	G	5: 125,164,966 (GRCm39)	I316T	unknown	Het
Nell2	A	T	15: 95,425,163 (GRCm39)	F63Y	probably damaging	Het
Or11l3	T	C	11: 58,516,189 (GRCm39)	I228V	probably damaging	Het
Qrfprl	A	G	6: 65,433,077 (GRCm39)	N299S	probably benign	Het
Zfp386	A	G	12: 116,023,733 (GRCm39)	I449V	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
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
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'- GCTGGAAGGAAATTTCTTAAGACTC -3'
(R):5'- CCATGAGTTTTACATTTTCTGCGGAAG -3'

Sequencing Primer
(F):5'- ACTTCTGGGATTCACAAGGC -3'
(R):5'- TTCTGCGGAAGAAAATAAGACATG -3'

Posted On

2018-05-24