Mutagenetix > Incidental Mutation

Incidental Mutation 'R8989:Insrr'

684270

Institutional Source

Beutler Lab

Gene Symbol

Insrr

Ensembl Gene

ENSMUSG00000005640

Gene Name

insulin receptor-related receptor

Synonyms

MMRRC Submission

068821-MU

Accession Numbers

Essential gene?

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

Stock #

R8989 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87796951-87816101 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87815357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1295 (N1295K)

Ref Sequence

ENSEMBL: ENSMUSP00000029711 (fasta)

Gene Model

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

AlphaFold

Q9WTL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029711
AA Change: N1295K

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640
AA Change: N1295K

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: N1295K

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640
AA Change: N1295K

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

0.0662

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	T	C	19: 58,787,721	E100G	probably damaging	Het
2210408I21Rik	A	G	13: 77,612,605	I1260M	probably benign	Het
4931406P16Rik	T	C	7: 34,257,444	Q332R	probably damaging	Het
A1cf	T	A	19: 31,927,156	F273Y	possibly damaging	Het
A3galt2	T	C	4: 128,761,438	W45R	probably damaging	Het
Adam23	A	G	1: 63,549,789	E460G	probably damaging	Het
Ago1	T	A	4: 126,463,790	T31S	probably benign	Het
Ago3	T	A	4: 126,404,398	T110S	probably damaging	Het
Akap6	T	C	12: 52,880,871	F188S	probably damaging	Het
Armc4	T	C	18: 7,268,464	K352E	probably benign	Het
Asic2	G	A	11: 81,152,354	P38S	probably benign	Het
Astn2	A	T	4: 65,581,653	C1000S	possibly damaging	Het
Atp10b	T	A	11: 43,245,442	C1132*	probably null	Het
Atp7b	A	T	8: 22,020,895	S527T	probably benign	Het
Bod1l	G	A	5: 41,821,682	T763I	probably benign	Het
Capn11	A	G	17: 45,643,857	L118P	probably damaging	Het
Col13a1	T	C	10: 61,860,471	E589G	unknown	Het
Col6a2	T	C	10: 76,604,181	D630G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,514	R423H	probably damaging	Het
Dld	G	A	12: 31,333,459	T447I	probably damaging	Het
Eif4g3	T	C	4: 138,184,748	L1227S	probably damaging	Het
Elac1	C	A	18: 73,747,239	E29*	probably null	Het
Ephb6	C	T	6: 41,613,359	A15V	probably benign	Het
Fam189a2	T	A	19: 23,984,832	Q269L	probably damaging	Het
Fancc	G	T	13: 63,400,276	L70M	possibly damaging	Het
Fgd6	T	A	10: 94,123,563	M1041K	probably damaging	Het
Fn1	A	G	1: 71,624,287	V1014A	possibly damaging	Het
Galnt1	C	T	18: 24,269,510	T308I	possibly damaging	Het
Gm13101	C	A	4: 143,965,200	A318S	probably benign	Het
Gpr63	T	A	4: 25,007,357	V27D	possibly damaging	Het
Hcfc2	T	C	10: 82,700,988	V78A	probably damaging	Het
Hexdc	T	A	11: 121,218,310		probably benign	Het
Hipk1	T	C	3: 103,761,644	T479A	possibly damaging	Het
Hkdc1	T	C	10: 62,393,765	D711G	probably damaging	Het
Ifna16	A	T	4: 88,676,675	F61Y	probably damaging	Het
Kif5b	T	A	18: 6,209,021	R914W	probably damaging	Het
Lpo	T	C	11: 87,817,834	T113A	probably benign	Het
Mmp21	T	C	7: 133,675,017	D419G	probably damaging	Het
Naf1	A	G	8: 66,860,976	T204A	possibly damaging	Het
Nsmce4a	T	C	7: 130,539,857	T201A	probably benign	Het
Nup160	T	A	2: 90,717,864	N980K	probably damaging	Het
Olfr113	A	T	17: 37,574,651	F257L	probably benign	Het
Olfr159	T	C	4: 43,770,346	I222V	possibly damaging	Het
Olfr709-ps1	T	A	7: 106,927,159	Q100L	probably damaging	Het
Pcdhb19	A	G	18: 37,498,423	T424A	probably benign	Het
Pclo	C	T	5: 14,669,311	A1154V	unknown	Het
Psma8	T	A	18: 14,757,347	D181E	probably benign	Het
Rhpn2	C	A	7: 35,354,021		probably benign	Het
Serpinb6e	G	T	13: 33,838,984	H139N	possibly damaging	Het
Slc26a7	T	A	4: 14,533,642	I394F	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,216,052		probably null	Het
Taok3	T	C	5: 117,241,162	S421P	probably benign	Het
Tas2r143	T	G	6: 42,400,894	D219E	probably damaging	Het
Tcaf1	G	A	6: 42,686,773	R58C	probably damaging	Het
Tenm3	A	T	8: 48,235,348	Y2401*	probably null	Het
Tut1	T	C	19: 8,959,752	V200A	possibly damaging	Het
Unc5c	T	A	3: 141,803,706		probably benign	Het
Vmn2r28	T	G	7: 5,490,474	I158L	probably benign	Het
Vmn2r72	T	A	7: 85,754,926	H19L	probably benign	Het
Xpo4	A	G	14: 57,591,018	M795T	probably benign	Het
Zc3h12a	C	A	4: 125,120,950	R247L	probably damaging	Het
Zfp521	C	A	18: 13,846,080	L425F	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
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
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'- GAGCTGATGAGACTCTGCTG -3'
(R):5'- TGTGAGTTCAGATGCCTCCC -3'

Sequencing Primer
(F):5'- TGATGAGACTCTGCTGGCAGC -3'
(R):5'- GAGTTCAGATGCCTCCCTTTCTGG -3'

Posted On

2021-10-11