Mutagenetix > Incidental Mutations

Incidental Mutation 'R0522:Insrr'

48616

Institutional Source

Beutler Lab

Gene Symbol

Insrr

Ensembl Gene

ENSMUSG00000005640

Gene Name

insulin receptor-related receptor

Synonyms

MMRRC Submission

038715-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

R0522 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

87796951-87816101 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87800872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 207 (S207F)

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: S207F

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

SMART Domains

Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640
AA Change: S207F

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: S207F

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

SMART Domains

Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640
AA Change: S207F

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

Meta Mutation Damage Score

0.4182

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130409I23Rik	A	C	1: 181,059,747	D299A	probably damaging	Het
Adgre5	A	G	8: 83,730,176	I192T	probably benign	Het
Adgrl3	T	C	5: 81,726,801	Y982H	possibly damaging	Het
Adgrv1	T	A	13: 81,528,442		probably benign	Het
Alms1	T	C	6: 85,621,615	V1610A	probably benign	Het
Ankrd24	T	C	10: 81,636,355		probably benign	Het
C2cd3	A	G	7: 100,395,222	N337S	probably benign	Het
Cdc40	T	C	10: 40,857,612	Y114C	probably benign	Het
Cdhr1	A	T	14: 37,094,000		probably null	Het
Cfc1	G	A	1: 34,537,153	C98Y	probably damaging	Het
Cyp11b2	A	T	15: 74,851,684		probably benign	Het
Cyth4	C	A	15: 78,615,785	H255Q	possibly damaging	Het
Dip2a	T	C	10: 76,321,531	K80R	probably benign	Het
Dnajb5	G	T	4: 42,957,083	D257Y	probably damaging	Het
Dynll1	T	C	5: 115,300,506		probably benign	Het
Edn1	T	A	13: 42,304,954	V81E	probably damaging	Het
F5	T	C	1: 164,211,763	S1981P	probably damaging	Het
Fam186b	T	A	15: 99,280,519	M309L	probably benign	Het
Gm14221	G	A	2: 160,574,677		noncoding transcript	Het
Gnptab	T	A	10: 88,431,466		probably benign	Het
Golgb1	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	16: 36,915,205		probably null	Het
Gpr176	A	G	2: 118,284,012	C106R	probably damaging	Het
Hdac7	A	T	15: 97,806,679		probably null	Het
Hlx	T	C	1: 184,731,640	S168G	probably damaging	Het
Hnf1a	G	T	5: 114,950,688		probably benign	Het
Hp1bp3	C	T	4: 138,222,161	L19F	possibly damaging	Het
Hspa14	T	A	2: 3,511,049	T63S	probably damaging	Het
Jak3	C	A	8: 71,682,274		probably benign	Het
Jmjd7	G	A	2: 120,030,341	A91T	probably damaging	Het
Lgals9	G	T	11: 78,965,812	H265Q	possibly damaging	Het
Lrriq1	T	G	10: 103,161,777	N1326H	probably damaging	Het
Mdn1	C	A	4: 32,672,837	Q486K	probably benign	Het
Mpeg1	A	G	19: 12,461,759	T194A	probably damaging	Het
Nek5	T	A	8: 22,088,797		probably benign	Het
Pcgf2	A	C	11: 97,692,047	I135M	probably benign	Het
Phactr1	G	T	13: 43,059,591	A222S	probably benign	Het
Pla2r1	T	C	2: 60,479,515	S575G	probably benign	Het
Plcg2	T	C	8: 117,614,288		probably null	Het
Pold3	A	G	7: 100,121,383	V14A	probably damaging	Het
Polg	A	G	7: 79,460,151		probably benign	Het
Poteg	T	G	8: 27,449,958	L48V	possibly damaging	Het
Prmt1	A	T	7: 44,981,779	C50S	probably benign	Het
Prx	T	A	7: 27,518,195	V707E	probably damaging	Het
Rrp12	C	T	19: 41,874,705		probably benign	Het
Saxo1	A	T	4: 86,445,103	V381E	probably damaging	Het
Sh2d2a	T	C	3: 87,847,109		probably null	Het
Slc26a5	A	C	5: 21,846,345	I57R	probably damaging	Het
Slc38a3	T	A	9: 107,655,213		probably null	Het
Slc5a4b	T	C	10: 76,090,700	T188A	probably damaging	Het
Slc7a13	A	G	4: 19,824,010	I260V	probably benign	Het
Smg8	A	T	11: 87,086,462	S98T	probably benign	Het
Spg20	T	A	3: 55,128,365	S548R	probably damaging	Het
Sult6b1	C	T	17: 78,905,529	G98S	probably damaging	Het
Tbc1d2	A	G	4: 46,649,806	Y77H	probably damaging	Het
Tet2	T	A	3: 133,466,804	D1899V	probably damaging	Het
Tmcc1	C	CAT	6: 116,042,870		probably null	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trp53bp1	C	A	2: 121,251,868	A317S	probably null	Het
Uap1l1	T	C	2: 25,363,277	E382G	probably damaging	Het
Ugt1a10	C	T	1: 88,218,249	P473L	probably damaging	Het
Ugt1a9	T	C	1: 88,071,392	V188A	probably damaging	Het
Virma	T	C	4: 11,519,416		probably null	Het
Xrcc6	T	C	15: 82,022,592		probably benign	Het
Zfp719	A	G	7: 43,589,253		probably null	Het
Zfp804b	T	A	5: 6,772,014	T350S	probably benign	Het
Zfp959	G	T	17: 55,896,201	R61M	probably null	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
R0504:Insrr	UTSW	3	87813156	missense	possibly damaging	0.69
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
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'- ATCTTTGAGATGCCCCACCTACGG -3'
(R):5'- CCAGAAGACAGTTTCTTGGGCTGAC -3'

Sequencing Primer
(F):5'- GAACCAGGAACTTTGCCATCTC -3'
(R):5'- tggaaaatgggatagtgaggg -3'

Posted On

2013-06-12