Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02100:Insrr'

279723

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Insrr

Ensembl Gene

ENSMUSG00000005640

Gene Name

insulin receptor-related receptor

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.285) question?

Stock #

IGL02100

Quality Score

Status

Chromosome

Chromosomal Location

87704258-87723408 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87718927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 961 (F961C)

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: F961C

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

SMART Domains

Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640
AA Change: F961C

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: F961C

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

SMART Domains

Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640
AA Change: F961C

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,029 (GRCm39)	Q347L	probably null	Het
Acvr2a	T	C	2: 48,788,630 (GRCm39)		probably benign	Het
Ankrd28	T	C	14: 31,449,582 (GRCm39)		probably benign	Het
Atp6v1b1	A	G	6: 83,735,426 (GRCm39)	Y498C	probably damaging	Het
Cdh3	G	A	8: 107,270,322 (GRCm39)	V400I	probably benign	Het
Chrnb1	G	T	11: 69,684,281 (GRCm39)		probably benign	Het
Col1a2	A	G	6: 4,524,177 (GRCm39)		probably benign	Het
Cyp2j7	A	G	4: 96,124,793 (GRCm39)	L35P	probably damaging	Het
Dennd2c	G	A	3: 103,060,991 (GRCm39)	S561N	probably damaging	Het
Dennd4a	A	T	9: 64,816,988 (GRCm39)		probably benign	Het
Dnai4	A	G	4: 102,907,346 (GRCm39)	C647R	probably damaging	Het
Dynll1	A	C	5: 115,436,852 (GRCm39)	V58G	probably damaging	Het
Eif3a	A	T	19: 60,755,442 (GRCm39)		probably benign	Het
Ercc6	T	C	14: 32,239,052 (GRCm39)	S47P	probably benign	Het
Fam76b	A	G	9: 13,755,416 (GRCm39)		probably benign	Het
Gbp4	T	A	5: 105,269,941 (GRCm39)		probably benign	Het
Gdi2	T	C	13: 3,606,373 (GRCm39)	F140L	probably benign	Het
Gm28043	T	C	17: 29,910,400 (GRCm39)		probably null	Het
Gm5117	T	A	8: 32,227,412 (GRCm39)		noncoding transcript	Het
Gstm6	G	T	3: 107,849,653 (GRCm39)	N85K	probably benign	Het
Hip1r	C	T	5: 124,137,006 (GRCm39)		probably benign	Het
Igf1r	T	C	7: 67,839,706 (GRCm39)	I671T	probably benign	Het
Kbtbd8	T	C	6: 95,099,663 (GRCm39)	Y314H	probably damaging	Het
Kif26b	C	A	1: 178,743,512 (GRCm39)	L756I	probably damaging	Het
Lcor	G	A	19: 41,547,193 (GRCm39)	R259Q	possibly damaging	Het
Mad1l1	T	A	5: 140,129,689 (GRCm39)	S449C	probably damaging	Het
Map1a	T	G	2: 121,133,327 (GRCm39)	L1381R	probably damaging	Het
Mdn1	G	T	4: 32,715,708 (GRCm39)	V1992L	possibly damaging	Het
Pigp	G	A	16: 94,165,626 (GRCm39)	Q99*	probably null	Het
Pip4p2	T	C	4: 14,893,536 (GRCm39)	I133T	probably benign	Het
Rgs8	A	T	1: 153,568,469 (GRCm39)		probably null	Het
Rnf170	T	A	8: 26,614,012 (GRCm39)	L36H	probably damaging	Het
Rpap1	T	C	2: 119,599,807 (GRCm39)	S1004G	probably benign	Het
Rpl10a-ps2	T	C	13: 8,990,779 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,752,759 (GRCm39)	E1854V	possibly damaging	Het
Scn7a	T	G	2: 66,505,843 (GRCm39)	*1682S	probably null	Het
Sema3d	A	G	5: 12,634,958 (GRCm39)	T675A	probably benign	Het
Slc1a2	T	C	2: 102,586,434 (GRCm39)	F346S	probably damaging	Het
St14	G	T	9: 31,011,426 (GRCm39)		probably benign	Het
Stard5	T	C	7: 83,289,653 (GRCm39)	V173A	possibly damaging	Het
Taf1b	A	G	12: 24,594,394 (GRCm39)	Y309C	possibly damaging	Het
Tet1	T	C	10: 62,648,507 (GRCm39)	N1975S	possibly damaging	Het
Them5	T	A	3: 94,251,782 (GRCm39)	I131N	probably damaging	Het
Tnc	A	C	4: 63,918,398 (GRCm39)	V1171G	possibly damaging	Het
Ttc12	C	A	9: 49,351,482 (GRCm39)	G672W	probably damaging	Het
Usp8	T	C	2: 126,579,774 (GRCm39)		probably benign	Het
Utp4	A	G	8: 107,624,807 (GRCm39)	N92S	probably benign	Het
Was	A	T	X: 7,956,554 (GRCm39)	F38L	possibly damaging	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
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
R4042:Insrr	UTSW	3	87,721,134 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16