Mutagenetix > Incidental Mutation

Incidental Mutation 'R0919:Insr'

82781

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

039069-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.880) question?

Stock #

R0919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3200922-3329649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3208769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1231 (S1231P)

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: S1231P

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

SMART Domains

Protein: ENSMUSP00000088837
Gene: ENSMUSG00000005534
AA Change: S1231P

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

unknown
Transcript: ENSMUST00000208839
AA Change: S55P

Meta Mutation Damage Score

0.8185

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.6%

Validation Efficiency

96% (43/45)

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
Alpk2	C	A	18: 65,440,544 (GRCm39)	C283F	probably benign	Het
Anapc1	T	C	2: 128,459,651 (GRCm39)	R1803G	probably benign	Het
Anapc4	T	C	5: 53,012,979 (GRCm39)	V423A	probably benign	Het
Arfgef3	A	G	10: 18,465,483 (GRCm39)	I2120T	possibly damaging	Het
Btaf1	T	A	19: 36,968,143 (GRCm39)	H1109Q	probably benign	Het
Cfap418	A	G	4: 10,882,462 (GRCm39)	T124A	probably benign	Het
Cfap70	G	A	14: 20,454,232 (GRCm39)	P851S	probably benign	Het
Clcf1	T	A	19: 4,272,252 (GRCm39)	L103Q	probably damaging	Het
Col11a2	T	A	17: 34,278,124 (GRCm39)	V1032E	possibly damaging	Het
Cyp2c38	T	G	19: 39,393,113 (GRCm39)	D318A	probably benign	Het
Dbpht2	A	G	12: 74,345,774 (GRCm39)		noncoding transcript	Het
Dhx34	A	C	7: 15,935,883 (GRCm39)	V893G	probably damaging	Het
Fsip2	T	A	2: 82,815,828 (GRCm39)	C3854S	possibly damaging	Het
Htr1a	T	C	13: 105,581,344 (GRCm39)	Y195H	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kpna4	A	T	3: 68,993,161 (GRCm39)		probably benign	Het
Or52d13	A	G	7: 103,110,019 (GRCm39)	I132T	probably damaging	Het
Or52e8	A	T	7: 104,624,519 (GRCm39)	Y228*	probably null	Het
Or5m3	A	G	2: 85,838,984 (GRCm39)	Y288C	possibly damaging	Het
Osbpl7	G	A	11: 96,946,927 (GRCm39)	R239H	possibly damaging	Het
Prkce	G	A	17: 86,937,588 (GRCm39)	V674I	probably benign	Het
Prkrip1	T	C	5: 136,226,685 (GRCm39)	M52V	possibly damaging	Het
Sash1	A	G	10: 8,605,843 (GRCm39)	M849T	probably benign	Het
Scaf8	T	C	17: 3,247,395 (GRCm39)	L906S	probably damaging	Het
Sfmbt2	T	C	2: 10,582,382 (GRCm39)	L676P	probably benign	Het
Sgsm1	C	T	5: 113,406,708 (GRCm39)	V923I	probably damaging	Het
Slc38a3	A	T	9: 107,533,158 (GRCm39)	L305Q	probably damaging	Het
Slc44a5	A	G	3: 153,949,223 (GRCm39)	Y232C	probably damaging	Het
Spag17	A	T	3: 99,979,259 (GRCm39)		probably benign	Het
Synm	T	C	7: 67,385,095 (GRCm39)	I414V	probably damaging	Het
Tbc1d12	C	T	19: 38,902,493 (GRCm39)	H551Y	possibly damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Trpc7	C	T	13: 56,970,462 (GRCm39)		probably benign	Het
Trpm7	G	A	2: 126,673,158 (GRCm39)	R532C	probably damaging	Het
Ttn	T	A	2: 76,777,086 (GRCm39)	K1485*	probably null	Het
Txn2	T	C	15: 77,811,949 (GRCm39)	D69G	probably damaging	Het
U2af2	C	T	7: 5,072,433 (GRCm39)		probably benign	Het
Ubn1	T	C	16: 4,882,255 (GRCm39)	Y239H	probably damaging	Het
Ubtf	A	G	11: 102,200,603 (GRCm39)		probably benign	Het
Usp49	T	A	17: 47,983,376 (GRCm39)	V127D	probably benign	Het
Washc2	C	T	6: 116,185,225 (GRCm39)	R20W	probably damaging	Het
Zscan10	T	C	17: 23,828,981 (GRCm39)	S476P	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
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

Predicted Primers

PCR Primer
(F):5'- GGCCTGCAAACCAAATCCATGCATA -3'
(R):5'- GGTGATAGAGGAAAGCCCATCTTTCACA -3'

Sequencing Primer
(F):5'- GTCTCTCTGGACAGTTATCAGG -3'
(R):5'- ttctctccacccacctcc -3'

Posted On

2013-11-08