Mutagenetix > Incidental Mutation

Incidental Mutation 'R0504:Insrr'

47310

Institutional Source

Beutler Lab

Gene Symbol

Insrr

Ensembl Gene

ENSMUSG00000005640

Gene Name

insulin receptor-related receptor

Synonyms

MMRRC Submission

038699-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R0504 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87796951-87816101 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87813156 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1034 (M1034L)

Ref Sequence

ENSEMBL: ENSMUSP00000103208 (fasta)

Gene Model

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

AlphaFold

Q9WTL4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029711
AA Change: M1034L

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640
AA Change: M1034L

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

possibly damaging
Transcript: ENSMUST00000107582
AA Change: M1034L

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640
AA Change: M1034L

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

Meta Mutation Damage Score

0.3047

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

99% (145/147)

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: 145 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	A	G	4: 103,270,860		probably benign	Het
4931440F15Rik	T	C	11: 29,824,990	I156V	probably damaging	Het
Adamts6	T	C	13: 104,426,930		probably benign	Het
Adamts9	T	A	6: 92,912,645	Y316F	probably damaging	Het
Agl	A	T	3: 116,786,784	F374I	probably damaging	Het
Akr1c19	A	G	13: 4,236,251	T83A	possibly damaging	Het
Ankrd36	T	A	11: 5,629,274	S179R	probably damaging	Het
Appbp2	A	G	11: 85,191,687	S573P	probably benign	Het
Arid4a	T	A	12: 71,047,214	F254I	probably damaging	Het
Asna1	A	C	8: 85,018,607	V277G	probably damaging	Het
Bin3	T	C	14: 70,123,887		probably null	Het
Bmi1	T	C	2: 18,684,072		probably null	Het
Bmper	G	T	9: 23,406,687	C534F	probably damaging	Het
Bora	T	A	14: 99,061,623	C205*	probably null	Het
Btnl2	A	G	17: 34,358,117	E82G	probably benign	Het
Ccdc8	A	T	7: 16,996,014	D476V	unknown	Het
Ccr3	C	A	9: 124,029,441	T271K	possibly damaging	Het
Cd276	A	G	9: 58,540,678	L23P	possibly damaging	Het
Cd3e	T	C	9: 45,002,254	Q61R	probably benign	Het
Cep97	A	G	16: 55,905,779	S582P	probably benign	Het
Chml	A	T	1: 175,687,182	M391K	probably damaging	Het
Chst1	A	G	2: 92,613,824	N214D	probably benign	Het
Chuk	T	C	19: 44,081,938		probably benign	Het
Col12a1	G	A	9: 79,681,468	H1122Y	possibly damaging	Het
Cpne6	A	G	14: 55,514,602	K272R	probably damaging	Het
Cpsf2	T	A	12: 101,990,003	L355Q	probably damaging	Het
Cyp2c29	T	A	19: 39,309,780	D256E	probably benign	Het
Daglb	G	A	5: 143,494,197	V420I	probably benign	Het
Ddx42	G	T	11: 106,247,849	G825C	probably benign	Het
Dis3	T	C	14: 99,081,390		probably benign	Het
Dkk4	C	T	8: 22,625,343	R70C	probably damaging	Het
Dock6	G	T	9: 21,802,436	Q1933K	probably damaging	Het
Dpep2	T	G	8: 105,989,988	Q186H	probably benign	Het
Dzip3	A	C	16: 48,959,643		probably benign	Het
Egflam	T	A	15: 7,222,758	I853F	probably damaging	Het
Fastkd5	A	G	2: 130,615,917	I251T	probably benign	Het
Fbn2	T	A	18: 58,039,460	D2091V	possibly damaging	Het
Fer1l4	C	A	2: 156,052,195	V63L	probably benign	Het
Frem1	T	A	4: 82,912,637	D2062V	probably benign	Het
Galnt6	A	C	15: 100,696,657		probably benign	Het
Gm10972	A	T	3: 94,643,133		probably benign	Het
Gm4846	G	A	1: 166,491,545	T208I	probably benign	Het
Gorab	A	G	1: 163,386,605	L252P	probably damaging	Het
Gtsf2	A	G	15: 103,444,561	C63R	probably damaging	Het
Hal	T	C	10: 93,489,174	V15A	probably damaging	Het
Hmcn1	A	T	1: 150,876,419		probably benign	Het
Hormad2	A	T	11: 4,408,833	H191Q	possibly damaging	Het
Hspa2	A	T	12: 76,405,216	D228V	probably damaging	Het
Igfn1	A	T	1: 135,968,529	M1433K	probably benign	Het
Il18	A	G	9: 50,575,328	D19G	probably damaging	Het
Il1rl2	G	A	1: 40,329,056	V129I	probably benign	Het
Inpp5b	C	A	4: 124,782,408	Y352*	probably null	Het
Jmjd1c	T	C	10: 67,225,755	S1296P	probably damaging	Het
Kdm5b	G	T	1: 134,621,023		probably null	Het
Krba1	C	T	6: 48,416,254	T998I	probably benign	Het
L3mbtl4	A	G	17: 68,777,912	N606S	probably benign	Het
Lonrf1	T	A	8: 36,231,159	N395I	possibly damaging	Het
Lpp	A	G	16: 24,971,970	D393G	probably damaging	Het
Lrrc17	A	G	5: 21,560,530	I3M	probably benign	Het
Lrrtm4	A	T	6: 80,022,046	Q147L	probably damaging	Het
Map1a	A	G	2: 121,302,941	M1413V	probably benign	Het
Mapk8ip2	A	G	15: 89,456,658	E102G	possibly damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mdn1	T	C	4: 32,698,916		probably benign	Het
Mfng	A	C	15: 78,757,314	H294Q	probably benign	Het
Mical2	T	A	7: 112,271,317	N4K	probably benign	Het
Mov10l1	T	A	15: 88,998,839	V384E	probably damaging	Het
Myo18b	A	G	5: 112,873,576		probably benign	Het
Nlrp1b	T	G	11: 71,182,415	I201L	probably damaging	Het
Nos2	C	T	11: 78,940,077	P249L	probably damaging	Het
Notch4	A	G	17: 34,575,091	T681A	probably damaging	Het
Nr1i3	C	T	1: 171,217,236		probably benign	Het
Obscn	A	G	11: 59,008,507		probably null	Het
Olfr1024	T	A	2: 85,904,686	M123L	possibly damaging	Het
Olfr1230	C	T	2: 89,296,739	C177Y	probably damaging	Het
Olfr1248	A	T	2: 89,618,094	Y33N	probably damaging	Het
Olfr237-ps1	A	T	6: 43,153,461	H52L	probably benign	Het
Olfr328	C	A	11: 58,551,636	C201F	probably damaging	Het
Olfr452	C	T	6: 42,790,596	R186*	probably null	Het
Olfr517	C	T	7: 108,868,850	M101I	possibly damaging	Het
Olfr654	C	T	7: 104,588,475	R224*	probably null	Het
Olfr705	T	A	7: 106,714,701		probably benign	Het
Olfr881	A	G	9: 37,993,142	T217A	probably benign	Het
Onecut2	A	T	18: 64,340,749	I124F	possibly damaging	Het
Otol1	G	A	3: 70,027,604	G310R	probably damaging	Het
Oxct2b	T	A	4: 123,116,840	S184R	possibly damaging	Het
Oxct2b	ACTG	A	4: 123,116,912		probably benign	Het
P2rx6	A	G	16: 17,567,427		probably benign	Het
Pde4a	A	G	9: 21,204,403	N411S	probably damaging	Het
Phkb	A	T	8: 86,056,524	D983V	probably benign	Het
Piezo2	G	A	18: 63,024,451	T2396I	probably damaging	Het
Pik3ap1	T	A	19: 41,287,490	D717V	probably damaging	Het
Plce1	T	A	19: 38,778,021		probably benign	Het
Plekhg1	A	G	10: 3,937,853	I261V	probably damaging	Het
Ppfia4	T	C	1: 134,324,113	H441R	probably damaging	Het
Prpf8	T	A	11: 75,501,942		probably benign	Het
Ptn	T	A	6: 36,741,453		probably benign	Het
Ptpn13	A	G	5: 103,501,496	Y255C	possibly damaging	Het
Ptpn4	A	G	1: 119,765,915	Y126H	probably damaging	Het
Ptprc	T	C	1: 138,088,697	N505D	probably damaging	Het
Ptprs	T	A	17: 56,454,220	I116F	possibly damaging	Het
Rab1a	T	G	11: 20,223,169	V90G	probably damaging	Het
Rcor1	T	C	12: 111,101,668	V267A	probably benign	Het
Reep4	A	G	14: 70,547,238		probably null	Het
Rere	T	A	4: 150,615,322		probably benign	Het
Rin3	T	A	12: 102,387,564	Y743*	probably null	Het
Rprm	A	G	2: 54,085,055	S84P	probably damaging	Het
Sdhaf2	C	T	19: 10,517,019	E109K	probably damaging	Het
Sec31b	G	T	19: 44,534,786	Q24K	probably damaging	Het
Sema5a	T	C	15: 32,574,803		probably benign	Het
Sh3pxd2a	T	C	19: 47,267,747	Y844C	probably damaging	Het
Shmt2	A	C	10: 127,520,072	N134K	probably damaging	Het
Slc9a8	C	T	2: 167,424,205	A34V	probably benign	Het
Spidr	A	C	16: 16,140,072	S64A	possibly damaging	Het
Stk10	A	G	11: 32,617,882	T895A	probably benign	Het
Syne2	A	T	12: 76,033,591		probably benign	Het
Szt2	T	C	4: 118,372,952		probably null	Het
Tecpr1	A	T	5: 144,214,081	V303D	probably damaging	Het
Tet3	A	G	6: 83,373,794	Y1048H	probably damaging	Het
Tfb2m	A	G	1: 179,545,831	C101R	probably damaging	Het
Tg	T	C	15: 66,682,404	V556A	probably damaging	Het
Thbs4	A	C	13: 92,767,184	I441M	probably benign	Het
Thsd7a	A	T	6: 12,379,594	Y944N	probably damaging	Het
Tm9sf3	C	A	19: 41,247,892		probably benign	Het
Tmem145	T	C	7: 25,311,362	F359S	probably damaging	Het
Ttc21b	C	T	2: 66,222,798		probably benign	Het
Ttn	A	G	2: 76,749,536	V23671A	probably damaging	Het
Txnl4b	T	C	8: 109,571,471	I78T	probably benign	Het
Ubr4	C	A	4: 139,406,578	L762I	probably damaging	Het
Ubr4	T	C	4: 139,480,838		probably null	Het
Ugt1a8	C	T	1: 88,088,357	P164L	probably damaging	Het
Unc13b	T	C	4: 43,263,559	S1594P	probably damaging	Het
Utrn	A	T	10: 12,402,895	F912I	probably benign	Het
Vat1l	T	C	8: 114,236,579		probably benign	Het
Vmn1r50	T	A	6: 90,107,881	S203T	probably damaging	Het
Vmn2r4	A	T	3: 64,389,363	L667Q	probably damaging	Het
Vmn2r66	T	G	7: 85,006,815	Q331P	probably damaging	Het
Wdsub1	A	T	2: 59,878,325	V68D	possibly damaging	Het
Wnk2	C	G	13: 49,085,394	A564P	possibly damaging	Het
Wnk2	T	A	13: 49,085,396	K563M	probably damaging	Het
Zan	T	A	5: 137,470,318	H297L	probably damaging	Het
Zfp426	A	T	9: 20,470,031	H539Q	probably damaging	Het
Zfp488	T	A	14: 33,970,540	N222I	probably damaging	Het
Zfp536	T	A	7: 37,568,818	H391L	probably damaging	Het
Zp1	T	A	19: 10,916,207	N31I	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
IGL02550:Insrr	APN	3	87804498	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGGCATAGACGCCTTTGTCCTG -3'
(R):5'- ATGACGTGCTCACCTCTGACCTTG -3'

Sequencing Primer
(F):5'- AGTGTATGTCCCCGACGAG -3'
(R):5'- ATCAAGACCCTAATAACTCTCTGG -3'

Posted On

2013-06-12