Mutagenetix > Incidental Mutations

Incidental Mutation 'R7473:Insrr'

628190

Institutional Source

Beutler Lab

Gene Symbol

Insrr

Ensembl Gene

ENSMUSG00000005640

Gene Name

insulin receptor-related receptor

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R7473 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87796951-87816101 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 87804531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103208 (fasta)

Gene Model

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

AlphaFold

Q9WTL4

Predicted Effect

probably null
Transcript: ENSMUST00000029711

SMART Domains

Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640

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 null
Transcript: ENSMUST00000107582

SMART Domains

Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (80/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,267,115	S368P	possibly damaging	Het
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
4933434E20Rik	T	C	3: 90,058,653		probably null	Het
A630095N17Rik	G	A	1: 75,232,031	T15I	unknown	Het
Actr1b	A	G	1: 36,709,819	V12A	probably benign	Het
Add1	A	G	5: 34,619,353	T473A	possibly damaging	Het
Akap11	A	T	14: 78,513,888	V353E		Het
Alcam	G	A	16: 52,452,519		probably benign	Het
Alpi	A	G	1: 87,099,647		probably null	Het
Ap3s2	A	G	7: 79,916,031	F49S	probably damaging	Het
Arpc1a	A	G	5: 145,101,076	K174E	probably benign	Het
Bbox1	A	T	2: 110,265,498	S374T	probably damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Bmp2k	A	G	5: 97,057,012	N402S	probably benign	Het
Bmper	C	A	9: 23,375,630	A284D	probably benign	Het
Bpifb2	A	T	2: 153,881,196	H124L	possibly damaging	Het
Bsn	C	T	9: 108,112,250	R2101Q	probably damaging	Het
Cacng1	T	A	11: 107,716,192	D67V	probably damaging	Het
Catsperg1	A	G	7: 29,195,478	S565P	probably damaging	Het
Cep126	C	T	9: 8,101,778	E252K	probably damaging	Het
Cep55	G	A	19: 38,069,936	E326K	probably damaging	Het
Cfap58	T	A	19: 47,974,625	Y491*	probably null	Het
Cpeb2	T	C	5: 43,277,505	S747P		Het
Cryz	T	A	3: 154,606,520	S85T	probably benign	Het
D2hgdh	T	C	1: 93,838,078	V367A	probably damaging	Het
Dgkh	T	C	14: 78,599,043	N703S	probably benign	Het
Dnah11	T	C	12: 117,903,176	S4077G	probably benign	Het
Dnah14	A	G	1: 181,752,139	H3079R	probably damaging	Het
Dnah2	T	A	11: 69,491,658	T1209S	probably damaging	Het
Dnmt3b	A	G	2: 153,684,450	D804G	probably damaging	Het
Ell2	A	G	13: 75,750,035	E143G	probably damaging	Het
Exoc2	A	G	13: 30,822,630		probably null	Het
Fahd2a	A	T	2: 127,440,456	I131N	probably damaging	Het
Fer1l5	A	G	1: 36,421,608	N1976D	possibly damaging	Het
Flt1	A	G	5: 147,594,595	S853P	probably damaging	Het
Frg2f1	C	T	4: 119,530,793	V170I	probably benign	Het
Gcn1l1	G	A	5: 115,581,804	V373M	probably benign	Het
Gm10696	T	A	3: 94,176,202	K101*	probably null	Het
Gm19965	A	G	1: 116,821,872	T428A	unknown	Het
Gm4792	A	G	10: 94,293,868	I124T	unknown	Het
Grik2	A	T	10: 49,113,522	C804S	probably benign	Het
Heatr6	T	A	11: 83,781,391	I1075N	probably damaging	Het
Hunk	G	A	16: 90,453,700	A211T	probably damaging	Het
Ighe	T	C	12: 113,271,356	I395V	probably damaging	Het
Ino80e	A	T	7: 126,857,312	S104T	probably damaging	Het
Inpp4a	A	G	1: 37,369,453	Y305C	probably benign	Het
Itgae	T	G	11: 73,140,678	D1073E	possibly damaging	Het
Klf11	G	T	12: 24,655,142		probably null	Het
Lrguk	A	T	6: 34,029,695	K80M	probably benign	Het
Map2	A	T	1: 66,415,458	D1169V	probably damaging	Het
Mpst	G	T	15: 78,413,526	C248F	probably damaging	Het
Myo9a	C	A	9: 59,895,244	Q2005K	probably benign	Het
Nfatc4	C	T	14: 55,831,964	T649I	probably benign	Het
Nmt1	A	G	11: 103,046,400	R88G	probably benign	Het
Nqo1	G	A	8: 107,403,097		probably benign	Het
Nudt2	T	G	4: 41,477,576	M19R	probably benign	Het
Olfr102	T	A	17: 37,313,631	Y251F	probably benign	Het
Olfr1497	C	T	19: 13,795,162	V150M	probably benign	Het
Olfr517	T	A	7: 108,868,269	K295M	probably damaging	Het
P2ry1	T	A	3: 61,004,088	I216N	probably damaging	Het
Pcx	T	A	19: 4,619,561	L823*	probably null	Het
Pkhd1	A	G	1: 20,549,756	V880A	probably damaging	Het
Plcb1	A	T	2: 135,344,276	N721I	probably damaging	Het
Prdm15	T	C	16: 97,821,846	K269E	possibly damaging	Het
Prl7b1	A	G	13: 27,602,013	V224A	possibly damaging	Het
Reln	A	G	5: 21,929,127	V2601A	probably benign	Het
Rspo4	G	A	2: 151,873,073	R210Q	unknown	Het
Slc7a5	A	T	8: 121,888,423	D228E	probably benign	Het
Tas2r115	A	G	6: 132,737,251	S246P	probably damaging	Het
Tenm4	A	G	7: 96,774,146	Y716C	probably damaging	Het
Tgfb3	T	C	12: 86,062,149	K269E	possibly damaging	Het
Thoc6	A	G	17: 23,670,867	I27T	probably benign	Het
Tigd5	G	A	15: 75,909,899	G37S	probably benign	Het
Tmem259	C	T	10: 79,979,672	D102N	possibly damaging	Het
Tpo	T	G	12: 30,092,590	I712L	probably benign	Het
Ttn	G	A	2: 76,870,548	T21M	possibly damaging	Het
Utp20	A	T	10: 88,820,710		probably null	Het
Xrcc5	A	G	1: 72,312,589	D106G	probably damaging	Het
Xrn1	T	A	9: 95,979,141	F451L	probably benign	Het
Zar1l	T	A	5: 150,517,738	D141V	probably damaging	Het
Zfp27	A	T	7: 29,895,899	C214S	possibly damaging	Het
Znfx1	A	T	2: 167,038,824	C1211S	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
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'- TAAAATACCGAGGGGATCAACC -3'
(R):5'- CCAAGCAAGGTGAGACAGATCC -3'

Sequencing Primer
(F):5'- GTGAGCAGCCATGGGTG -3'
(R):5'- AACCCCAGCGTTCTTGGAG -3'

Posted On

2020-02-05