Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02550:Insrr'

298055

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: 0.299) question?

Stock #

IGL02550

Quality Score

Status

Chromosome

Chromosomal Location

87796951-87816101 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87804498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 515 (L515P)

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: L515P

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

SMART Domains

Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640
AA Change: L515P

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: L515P

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

SMART Domains

Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640
AA Change: L515P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166771

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166866

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109I03Rik	T	G	15: 74,880,755	H24P	probably damaging	Het
Acadl	A	G	1: 66,845,166		probably null	Het
Acer3	G	A	7: 98,223,978	T171I	probably benign	Het
Acsm2	C	T	7: 119,573,284	P117S	probably damaging	Het
Anxa2	A	G	9: 69,467,306	S22G	probably benign	Het
Arrb2	T	C	11: 70,436,870	I120T	probably damaging	Het
Atp11a	G	T	8: 12,816,997	K141N	possibly damaging	Het
Casd1	T	C	6: 4,642,009	V762A	probably benign	Het
Ccdc61	A	T	7: 18,893,302	S48T	probably benign	Het
Cntn2	T	C	1: 132,529,063	M82V	probably null	Het
Cobll1	A	G	2: 65,107,863	S359P	probably damaging	Het
Ctnnbl1	C	A	2: 157,884,135	D465E	probably benign	Het
Def6	A	T	17: 28,228,261	E622V	probably benign	Het
Dmgdh	T	C	13: 93,717,575	Y678H	probably damaging	Het
Dock9	A	T	14: 121,698,312	M1K	probably null	Het
Esyt1	T	C	10: 128,522,093	K216E	probably damaging	Het
Fhod3	A	G	18: 25,022,960	D545G	probably benign	Het
Galnt12	A	T	4: 47,104,126	D128V	possibly damaging	Het
Gm1110	C	T	9: 26,881,834	V549I	probably benign	Het
Gm1966	A	T	7: 106,601,639		noncoding transcript	Het
Gm7361	A	G	5: 26,261,122	I161V	possibly damaging	Het
Gsn	T	C	2: 35,282,607		probably benign	Het
Il16	T	A	7: 83,674,496	Q282L	possibly damaging	Het
Il3ra	A	G	14: 14,348,055	D67G	probably benign	Het
Jhy	A	G	9: 40,917,170	F480S	probably benign	Het
Klc4	C	A	17: 46,636,910		probably null	Het
Klhl12	G	T	1: 134,467,705	C135F	possibly damaging	Het
Mboat7	G	T	7: 3,683,906		probably null	Het
Myo1f	A	G	17: 33,580,150		probably benign	Het
Myo1f	G	A	17: 33,588,142	D522N	probably damaging	Het
Nbea	C	A	3: 56,019,414	M789I	probably damaging	Het
Ncapd2	T	C	6: 125,177,447	D602G	probably benign	Het
Ncaph2	A	T	15: 89,369,861	K344*	probably null	Het
Nek2	A	G	1: 191,822,259	Y70C	probably damaging	Het
Olfr1277	T	A	2: 111,270,004	D121V	probably damaging	Het
Olfr1281	T	C	2: 111,328,500	L27P	probably damaging	Het
Olfr31	T	C	14: 14,328,423	L104P	possibly damaging	Het
Olfr857	C	A	9: 19,713,047	F73L	possibly damaging	Het
Olfr955	T	A	9: 39,470,546	Y60F	probably benign	Het
Olfr992	G	A	2: 85,399,822	A237V	probably damaging	Het
Plcb3	T	A	19: 6,960,176	K625*	probably null	Het
Plrg1	T	C	3: 83,061,123		probably null	Het
Ptpn12	A	G	5: 20,998,139	V547A	probably benign	Het
Ralgapb	A	G	2: 158,448,411	D748G	probably damaging	Het
Rcbtb2	A	G	14: 73,162,019	E41G	probably damaging	Het
Rela	G	T	19: 5,641,506	R236L	possibly damaging	Het
Rps6kc1	A	G	1: 190,871,862	S188P	probably damaging	Het
Sipa1l1	A	T	12: 82,440,949	K1666*	probably null	Het
Slco1a1	C	T	6: 141,943,465	M40I	probably benign	Het
Smarca4	C	A	9: 21,686,122	P1391Q	probably benign	Het
Stra6	A	G	9: 58,150,083	N392S	possibly damaging	Het
Syt4	A	G	18: 31,444,193	I36T	probably damaging	Het
Tgfbr2	A	T	9: 116,110,129	M235K	probably benign	Het
Tmem87a	T	A	2: 120,374,485		probably null	Het
Tmf1	T	C	6: 97,158,561	D918G	probably benign	Het
Tnfaip2	A	G	12: 111,446,101	Y312C	probably damaging	Het
Usp47	C	T	7: 112,104,354	R1178C	probably damaging	Het
Vmn2r95	T	A	17: 18,451,732	I577N	probably damaging	Het
Vps13b	T	C	15: 35,572,096	V953A	probably benign	Het
Wasl	A	G	6: 24,633,884	F127S	probably damaging	Het
Wdr1	C	T	5: 38,540,863	V192I	probably damaging	Het
Wnt9a	C	T	11: 59,330,918	T214I	probably damaging	Het
Xpo5	A	G	17: 46,229,329	D693G	probably benign	Het
Zan	A	G	5: 137,387,039	L5044P	unknown	Het
Zhx3	T	C	2: 160,781,296	N317S	probably damaging	Het

Other mutations in Insrr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Insrr	APN	3	87813674	critical splice donor site	probably null
IGL00801:Insrr	APN	3	87813808	missense	probably damaging	1.00
IGL01628:Insrr	APN	3	87800792	nonsense	probably null
IGL01755:Insrr	APN	3	87814186	missense	probably damaging	1.00
IGL02100:Insrr	APN	3	87811620	missense	probably damaging	1.00
IGL02261:Insrr	APN	3	87800722	missense	probably damaging	1.00
IGL02366:Insrr	APN	3	87809909	missense	possibly damaging	0.91
IGL02387:Insrr	APN	3	87813127	missense	probably damaging	1.00
IGL02478:Insrr	APN	3	87809412	missense	probably benign	0.14
IGL02555:Insrr	APN	3	87813817	missense	probably damaging	0.99
IGL02673:Insrr	APN	3	87813061	missense	possibly damaging	0.95
IGL02724:Insrr	APN	3	87809572	missense	probably benign	0.31
IGL02798:Insrr	APN	3	87810517	missense	probably damaging	1.00
IGL02969:Insrr	APN	3	87814191	nonsense	probably null
IGL03073:Insrr	APN	3	87809938	splice site	probably benign
IGL03178:Insrr	APN	3	87802541	splice site	probably null
IGL03389:Insrr	APN	3	87808731	missense	probably damaging	1.00
IGL03399:Insrr	APN	3	87809331	missense	probably null	0.99
IGL02799:Insrr	UTSW	3	87813581	missense	probably damaging	1.00
R0011:Insrr	UTSW	3	87809616	missense	possibly damaging	0.86
R0053:Insrr	UTSW	3	87800452	missense	probably damaging	1.00
R0053:Insrr	UTSW	3	87800452	missense	probably damaging	1.00
R0357:Insrr	UTSW	3	87808646	splice site	probably null
R0501:Insrr	UTSW	3	87810684	missense	probably benign	0.12
R0504:Insrr	UTSW	3	87813156	missense	possibly damaging	0.69
R0522:Insrr	UTSW	3	87800872	missense	probably damaging	1.00
R0555:Insrr	UTSW	3	87814437	splice site	probably benign
R0558:Insrr	UTSW	3	87810981	missense	possibly damaging	0.77
R0599:Insrr	UTSW	3	87813133	missense	probably damaging	0.97
R1312:Insrr	UTSW	3	87800490	missense	probably damaging	1.00
R1694:Insrr	UTSW	3	87804062	missense	probably benign
R1785:Insrr	UTSW	3	87810572	splice site	probably null
R1786:Insrr	UTSW	3	87810572	splice site	probably null
R1892:Insrr	UTSW	3	87813877	missense	probably damaging	1.00
R1950:Insrr	UTSW	3	87814513	missense	probably damaging	1.00
R2080:Insrr	UTSW	3	87814291	missense	possibly damaging	0.79
R2094:Insrr	UTSW	3	87803181	missense	probably damaging	1.00
R2130:Insrr	UTSW	3	87810572	splice site	probably null
R2131:Insrr	UTSW	3	87810572	splice site	probably null
R2133:Insrr	UTSW	3	87810572	splice site	probably null
R2220:Insrr	UTSW	3	87809418	missense	probably damaging	1.00
R2259:Insrr	UTSW	3	87800452	missense	probably damaging	1.00
R2404:Insrr	UTSW	3	87802667	missense	possibly damaging	0.71
R4027:Insrr	UTSW	3	87809599	missense	probably benign
R4042:Insrr	UTSW	3	87813827	missense	probably damaging	1.00
R4510:Insrr	UTSW	3	87808671	missense	possibly damaging	0.67
R4511:Insrr	UTSW	3	87808671	missense	possibly damaging	0.67
R4571:Insrr	UTSW	3	87800887	missense	probably benign
R4870:Insrr	UTSW	3	87811604	missense	probably damaging	1.00
R5057:Insrr	UTSW	3	87815265	missense	probably benign	0.00
R5393:Insrr	UTSW	3	87810700	splice site	probably null
R5685:Insrr	UTSW	3	87800496	splice site	probably null
R6039:Insrr	UTSW	3	87809301	missense	possibly damaging	0.56
R6039:Insrr	UTSW	3	87809301	missense	possibly damaging	0.56
R6047:Insrr	UTSW	3	87804176	missense	probably damaging	1.00
R6276:Insrr	UTSW	3	87800519	nonsense	probably null
R6298:Insrr	UTSW	3	87812965	missense	probably damaging	1.00
R6726:Insrr	UTSW	3	87813566	missense	probably damaging	1.00
R6727:Insrr	UTSW	3	87813566	missense	probably damaging	1.00
R6728:Insrr	UTSW	3	87813566	missense	probably damaging	1.00
R6796:Insrr	UTSW	3	87813566	missense	probably damaging	1.00
R7041:Insrr	UTSW	3	87815244	missense	probably damaging	1.00
R7169:Insrr	UTSW	3	87808594	missense	probably benign	0.15
R7270:Insrr	UTSW	3	87803133	missense	probably damaging	1.00
R7340:Insrr	UTSW	3	87814316	critical splice donor site	probably null
R7398:Insrr	UTSW	3	87808732	missense	probably damaging	1.00
R7473:Insrr	UTSW	3	87804531	splice site	probably null
R7815:Insrr	UTSW	3	87808695	missense	probably damaging	0.98
R8159:Insrr	UTSW	3	87800428	missense	probably damaging	1.00
R8289:Insrr	UTSW	3	87814194	missense	probably damaging	1.00
R8309:Insrr	UTSW	3	87810442	missense	probably benign	0.00
R8312:Insrr	UTSW	3	87800484	missense	possibly damaging	0.93
R8445:Insrr	UTSW	3	87813584	missense	probably damaging	1.00
R8917:Insrr	UTSW	3	87810969	missense	probably benign	0.00
R8960:Insrr	UTSW	3	87813079	missense	probably damaging	1.00
R8989:Insrr	UTSW	3	87815357	missense	probably damaging	0.96
R9015:Insrr	UTSW	3	87813603	missense	probably damaging	1.00
R9202:Insrr	UTSW	3	87813120	missense	probably damaging	1.00
R9251:Insrr	UTSW	3	87810084	missense	probably benign	0.08
R9327:Insrr	UTSW	3	87814297	missense	probably damaging	1.00
R9646:Insrr	UTSW	3	87814498	missense	probably damaging	1.00
RF022:Insrr	UTSW	3	87804485	missense	possibly damaging	0.51
Z1177:Insrr	UTSW	3	87800827	missense	possibly damaging	0.91
Z1192:Insrr	UTSW	3	87802579	missense	probably damaging	1.00

Posted On

2015-04-16