Mutagenetix > Incidental Mutation

Incidental Mutation 'R4042:Insrr'

315766

Institutional Source

Beutler Lab

Gene Symbol

Insrr

Ensembl Gene

ENSMUSG00000005640

Gene Name

insulin receptor-related receptor

Synonyms

MMRRC Submission

040851-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R4042 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87704258-87723408 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87721134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1095 (M1095K)

Ref Sequence

ENSEMBL: ENSMUSP00000103208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029711] [ENSMUST00000029714] [ENSMUST00000090981] [ENSMUST00000107582]

AlphaFold

Q9WTL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029711
AA Change: M1095K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640
AA Change: M1095K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Recep_L_domain	47	159	1.8e-25	PFAM
FU	225	268	9.54e-11	SMART
Pfam:Recep_L_domain	346	460	3.8e-28	PFAM
FN3	483	586	9.19e-1	SMART
FN3	605	798	6.45e-5	SMART
FN3	816	899	6.35e-4	SMART
TyrKc	979	1246	4.61e-128	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000029714

SMART Domains

Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090981

SMART Domains

Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107582
AA Change: M1095K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640
AA Change: M1095K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Recep_L_domain	47	159	7.7e-25	PFAM
FU	225	268	9.54e-11	SMART
Pfam:Recep_L_domain	346	460	1.6e-28	PFAM
FN3	483	586	9.19e-1	SMART
FN3	605	798	6.45e-5	SMART
FN3	816	899	6.35e-4	SMART
TyrKc	979	1246	4.61e-128	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no anomalies in pancreatic islet morphology, beta-cell mass or pancreatic secretory function. This mutation in combination with Insr mutant mice does not affect the diabetes predisposition of Insr mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	A	G	17: 33,768,514 (GRCm39)	H864R	possibly damaging	Het
Akap6	A	T	12: 53,186,162 (GRCm39)		probably null	Het
Alox5	A	G	6: 116,437,979 (GRCm39)	S3P	possibly damaging	Het
Bcl2l2	G	A	14: 55,122,091 (GRCm39)	E85K	possibly damaging	Het
Chd6	A	T	2: 160,830,253 (GRCm39)	I1014N	probably damaging	Het
Cog1	A	T	11: 113,551,836 (GRCm39)	Q156L	probably damaging	Het
Col28a1	G	A	6: 8,014,678 (GRCm39)	S909F	probably damaging	Het
Csmd3	C	T	15: 47,477,480 (GRCm39)	G3339D	probably damaging	Het
Cst11	A	G	2: 148,613,200 (GRCm39)	S42P	probably benign	Het
Cyp2d10	C	T	15: 82,290,269 (GRCm39)	R67H	probably benign	Het
Fsip2	G	T	2: 82,813,896 (GRCm39)	R3405L	probably benign	Het
H2-Ab1	T	C	17: 34,483,834 (GRCm39)	V65A	probably benign	Het
Hdac6	T	C	X: 7,797,731 (GRCm39)	T993A	probably benign	Het
Itih4	A	T	14: 30,616,995 (GRCm39)	N517I	probably damaging	Het
Krt10	C	T	11: 99,277,819 (GRCm39)		probably null	Het
Mettl16	T	A	11: 74,683,118 (GRCm39)	F187I	probably damaging	Het
Miga2	T	C	2: 30,257,738 (GRCm39)	I12T	possibly damaging	Het
Muc5b	T	C	7: 141,418,624 (GRCm39)	Y3857H	possibly damaging	Het
Ncoa1	A	G	12: 4,317,871 (GRCm39)	S165P	probably damaging	Het
Or5bb10	A	T	19: 12,206,676 (GRCm39)	I83N	probably benign	Het
Otol1	A	G	3: 69,935,112 (GRCm39)	D368G	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Plxnb1	A	G	9: 108,934,241 (GRCm39)	D823G	probably benign	Het
Ppme1	A	G	7: 99,990,272 (GRCm39)	S226P	probably damaging	Het
Ppp4r3c1	A	G	X: 88,975,909 (GRCm39)	F96S	probably damaging	Het
Prss40	G	T	1: 34,599,960 (GRCm39)	S9*	probably null	Het
Prune2	T	C	19: 16,981,190 (GRCm39)		probably null	Het
Radx	C	T	X: 138,407,752 (GRCm39)	S364L	probably damaging	Homo
Rgl2	C	T	17: 34,156,236 (GRCm39)	R775W	probably damaging	Het
Rpp40	A	G	13: 36,082,549 (GRCm39)	C275R	probably benign	Het
Rrm2	T	C	12: 24,761,450 (GRCm39)	Y162H	probably benign	Het
Spata6l	A	T	19: 28,923,183 (GRCm39)	C80S	possibly damaging	Het
Syne1	T	C	10: 4,991,584 (GRCm39)	M8377V	probably benign	Het
Uchl4	A	C	9: 64,142,839 (GRCm39)	I107L	probably benign	Het
Ush1c	T	C	7: 45,870,952 (GRCm39)	E276G	probably damaging	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vcan	T	A	13: 89,840,662 (GRCm39)	L1627F	probably benign	Het
Ythdc1	T	C	5: 86,964,383 (GRCm39)	I76T	probably benign	Het

Other mutations in Insrr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Insrr	APN	3	87,720,981 (GRCm39)	critical splice donor site	probably null
IGL00801:Insrr	APN	3	87,721,115 (GRCm39)	missense	probably damaging	1.00
IGL01628:Insrr	APN	3	87,708,099 (GRCm39)	nonsense	probably null
IGL01755:Insrr	APN	3	87,721,493 (GRCm39)	missense	probably damaging	1.00
IGL02100:Insrr	APN	3	87,718,927 (GRCm39)	missense	probably damaging	1.00
IGL02261:Insrr	APN	3	87,708,029 (GRCm39)	missense	probably damaging	1.00
IGL02366:Insrr	APN	3	87,717,216 (GRCm39)	missense	possibly damaging	0.91
IGL02387:Insrr	APN	3	87,720,434 (GRCm39)	missense	probably damaging	1.00
IGL02478:Insrr	APN	3	87,716,719 (GRCm39)	missense	probably benign	0.14
IGL02550:Insrr	APN	3	87,711,805 (GRCm39)	missense	probably damaging	1.00
IGL02555:Insrr	APN	3	87,721,124 (GRCm39)	missense	probably damaging	0.99
IGL02673:Insrr	APN	3	87,720,368 (GRCm39)	missense	possibly damaging	0.95
IGL02724:Insrr	APN	3	87,716,879 (GRCm39)	missense	probably benign	0.31
IGL02798:Insrr	APN	3	87,717,824 (GRCm39)	missense	probably damaging	1.00
IGL02969:Insrr	APN	3	87,721,498 (GRCm39)	nonsense	probably null
IGL03073:Insrr	APN	3	87,717,245 (GRCm39)	splice site	probably benign
IGL03178:Insrr	APN	3	87,709,848 (GRCm39)	splice site	probably null
IGL03389:Insrr	APN	3	87,716,038 (GRCm39)	missense	probably damaging	1.00
IGL03399:Insrr	APN	3	87,716,638 (GRCm39)	missense	probably null	0.99
IGL02799:Insrr	UTSW	3	87,720,888 (GRCm39)	missense	probably damaging	1.00
R0011:Insrr	UTSW	3	87,716,923 (GRCm39)	missense	possibly damaging	0.86
R0053:Insrr	UTSW	3	87,707,759 (GRCm39)	missense	probably damaging	1.00
R0053:Insrr	UTSW	3	87,707,759 (GRCm39)	missense	probably damaging	1.00
R0357:Insrr	UTSW	3	87,715,953 (GRCm39)	splice site	probably null
R0501:Insrr	UTSW	3	87,717,991 (GRCm39)	missense	probably benign	0.12
R0504:Insrr	UTSW	3	87,720,463 (GRCm39)	missense	possibly damaging	0.69
R0522:Insrr	UTSW	3	87,708,179 (GRCm39)	missense	probably damaging	1.00
R0555:Insrr	UTSW	3	87,721,744 (GRCm39)	splice site	probably benign
R0558:Insrr	UTSW	3	87,718,288 (GRCm39)	missense	possibly damaging	0.77
R0599:Insrr	UTSW	3	87,720,440 (GRCm39)	missense	probably damaging	0.97
R1312:Insrr	UTSW	3	87,707,797 (GRCm39)	missense	probably damaging	1.00
R1694:Insrr	UTSW	3	87,711,369 (GRCm39)	missense	probably benign
R1785:Insrr	UTSW	3	87,717,879 (GRCm39)	splice site	probably null
R1786:Insrr	UTSW	3	87,717,879 (GRCm39)	splice site	probably null
R1892:Insrr	UTSW	3	87,721,184 (GRCm39)	missense	probably damaging	1.00
R1950:Insrr	UTSW	3	87,721,820 (GRCm39)	missense	probably damaging	1.00
R2080:Insrr	UTSW	3	87,721,598 (GRCm39)	missense	possibly damaging	0.79
R2094:Insrr	UTSW	3	87,710,488 (GRCm39)	missense	probably damaging	1.00
R2130:Insrr	UTSW	3	87,717,879 (GRCm39)	splice site	probably null
R2131:Insrr	UTSW	3	87,717,879 (GRCm39)	splice site	probably null
R2133:Insrr	UTSW	3	87,717,879 (GRCm39)	splice site	probably null
R2220:Insrr	UTSW	3	87,716,725 (GRCm39)	missense	probably damaging	1.00
R2259:Insrr	UTSW	3	87,707,759 (GRCm39)	missense	probably damaging	1.00
R2404:Insrr	UTSW	3	87,709,974 (GRCm39)	missense	possibly damaging	0.71
R4027:Insrr	UTSW	3	87,716,906 (GRCm39)	missense	probably benign
R4510:Insrr	UTSW	3	87,715,978 (GRCm39)	missense	possibly damaging	0.67
R4511:Insrr	UTSW	3	87,715,978 (GRCm39)	missense	possibly damaging	0.67
R4571:Insrr	UTSW	3	87,708,194 (GRCm39)	missense	probably benign
R4870:Insrr	UTSW	3	87,718,911 (GRCm39)	missense	probably damaging	1.00
R5057:Insrr	UTSW	3	87,722,572 (GRCm39)	missense	probably benign	0.00
R5393:Insrr	UTSW	3	87,718,007 (GRCm39)	splice site	probably null
R5685:Insrr	UTSW	3	87,707,803 (GRCm39)	splice site	probably null
R6039:Insrr	UTSW	3	87,716,608 (GRCm39)	missense	possibly damaging	0.56
R6039:Insrr	UTSW	3	87,716,608 (GRCm39)	missense	possibly damaging	0.56
R6047:Insrr	UTSW	3	87,711,483 (GRCm39)	missense	probably damaging	1.00
R6276:Insrr	UTSW	3	87,707,826 (GRCm39)	nonsense	probably null
R6298:Insrr	UTSW	3	87,720,272 (GRCm39)	missense	probably damaging	1.00
R6726:Insrr	UTSW	3	87,720,873 (GRCm39)	missense	probably damaging	1.00
R6727:Insrr	UTSW	3	87,720,873 (GRCm39)	missense	probably damaging	1.00
R6728:Insrr	UTSW	3	87,720,873 (GRCm39)	missense	probably damaging	1.00
R6796:Insrr	UTSW	3	87,720,873 (GRCm39)	missense	probably damaging	1.00
R7041:Insrr	UTSW	3	87,722,551 (GRCm39)	missense	probably damaging	1.00
R7169:Insrr	UTSW	3	87,715,901 (GRCm39)	missense	probably benign	0.15
R7270:Insrr	UTSW	3	87,710,440 (GRCm39)	missense	probably damaging	1.00
R7340:Insrr	UTSW	3	87,721,623 (GRCm39)	critical splice donor site	probably null
R7398:Insrr	UTSW	3	87,716,039 (GRCm39)	missense	probably damaging	1.00
R7473:Insrr	UTSW	3	87,711,838 (GRCm39)	splice site	probably null
R7815:Insrr	UTSW	3	87,716,002 (GRCm39)	missense	probably damaging	0.98
R8159:Insrr	UTSW	3	87,707,735 (GRCm39)	missense	probably damaging	1.00
R8289:Insrr	UTSW	3	87,721,501 (GRCm39)	missense	probably damaging	1.00
R8309:Insrr	UTSW	3	87,717,749 (GRCm39)	missense	probably benign	0.00
R8312:Insrr	UTSW	3	87,707,791 (GRCm39)	missense	possibly damaging	0.93
R8445:Insrr	UTSW	3	87,720,891 (GRCm39)	missense	probably damaging	1.00
R8917:Insrr	UTSW	3	87,718,276 (GRCm39)	missense	probably benign	0.00
R8960:Insrr	UTSW	3	87,720,386 (GRCm39)	missense	probably damaging	1.00
R8989:Insrr	UTSW	3	87,722,664 (GRCm39)	missense	probably damaging	0.96
R9015:Insrr	UTSW	3	87,720,910 (GRCm39)	missense	probably damaging	1.00
R9202:Insrr	UTSW	3	87,720,427 (GRCm39)	missense	probably damaging	1.00
R9251:Insrr	UTSW	3	87,717,391 (GRCm39)	missense	probably benign	0.08
R9327:Insrr	UTSW	3	87,721,604 (GRCm39)	missense	probably damaging	1.00
R9646:Insrr	UTSW	3	87,721,805 (GRCm39)	missense	probably damaging	1.00
RF022:Insrr	UTSW	3	87,711,792 (GRCm39)	missense	possibly damaging	0.51
Z1177:Insrr	UTSW	3	87,708,134 (GRCm39)	missense	possibly damaging	0.91
Z1192:Insrr	UTSW	3	87,709,886 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTCTGAGACCTGAGGCAGAG -3'
(R):5'- AGATTCAGGACTTGGGGACTTG -3'

Sequencing Primer
(F):5'- CCTGAGGCAGAGGTTGGAATG -3'
(R):5'- ACTTGGGGACTTGCCTGAC -3'

Posted On

2015-05-15