Mutagenetix > Incidental Mutations

Incidental Mutation 'R9015:Insrr'

685894

Institutional Source

Beutler Lab

Gene Symbol

Insrr

Ensembl Gene

ENSMUSG00000005640

Gene Name

insulin receptor-related receptor

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

R9015 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87796951-87816101 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87813603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1056 (L1056Q)

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: L1056Q

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

SMART Domains

Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640
AA Change: L1056Q

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: L1056Q

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

SMART Domains

Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640
AA Change: L1056Q

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: 99.9%
10x: 99.7%
20x: 98.9%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	G	4: 86,232,610	D335G	probably damaging	Het
AI413582	T	C	17: 27,564,249	D48G	probably benign	Het
Alas1	A	T	9: 106,236,471	I525N	probably benign	Het
Aox2	G	A	1: 58,343,692	V1044M	probably damaging	Het
Apcdd1	A	T	18: 62,950,086	Y329F	possibly damaging	Het
Arhgap10	A	C	8: 77,259,058	C727G	probably benign	Het
Arid4a	G	A	12: 71,075,394	D528N	possibly damaging	Het
Atp8a1	A	G	5: 67,729,907	V611A		Het
BC004004	T	C	17: 29,298,663	F284L	probably damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cep295	T	C	9: 15,332,968	I1397M	probably benign	Het
Cep63	A	G	9: 102,618,912	S99P	probably damaging	Het
Coq3	T	A	4: 21,899,107	S147T	probably benign	Het
Crym	A	T	7: 120,201,867	S20T	probably benign	Het
Ctr9	T	A	7: 111,043,901	N493K	probably benign	Het
Dchs2	A	G	3: 83,281,444	I1372V	possibly damaging	Het
Ddi2	G	A	4: 141,685,436	T55M	probably benign	Het
Dnah1	T	C	14: 31,264,359	M3724V	probably damaging	Het
Dst	A	G	1: 34,287,256	I4690V	probably benign	Het
Ect2l	T	C	10: 18,163,400	T429A	probably benign	Het
Eif3c	G	T	7: 126,556,366	H577N	probably damaging	Het
Erg	A	G	16: 95,361,267	S334P	possibly damaging	Het
Faf2	A	G	13: 54,648,326	S127G	probably benign	Het
Fbxl3	T	A	14: 103,092,354	T141S	possibly damaging	Het
Fbxw4	T	A	19: 45,636,435	M122L	probably benign	Het
Fgd4	T	C	16: 16,454,077	M476V	probably damaging	Het
Flvcr2	A	T	12: 85,783,005	I263F	probably benign	Het
Gadl1	A	T	9: 115,965,637	R293S	probably benign	Het
Gm11983	G	T	11: 6,837,033	F31L	unknown	Het
Gmnn	A	T	13: 24,756,655	N70K	probably benign	Het
Gpr3	A	G	4: 133,211,079	V94A	possibly damaging	Het
Greb1l	A	G	18: 10,541,675	S1141G	probably benign	Het
Helz2	A	T	2: 181,228,999	V2892E	probably damaging	Het
Hivep1	T	A	13: 42,158,373	M1363K	probably benign	Het
Hk1	T	A	10: 62,292,339	T336S	possibly damaging	Het
Hpgds	A	T	6: 65,138,245	I18N	possibly damaging	Het
Ints10	A	G	8: 68,807,487	M288V	probably benign	Het
Itgb6	T	C	2: 60,654,688	D237G	probably damaging	Het
Kcnf1	A	G	12: 17,175,302	I306T	probably damaging	Het
Kdm3b	G	A	18: 34,830,159	G1556D	probably damaging	Het
Kif5b	A	G	18: 6,216,892	L477P	probably damaging	Het
Klf5	T	G	14: 99,303,483	*310G	probably null	Het
Lnx1	A	G	5: 74,620,122	V246A	probably benign	Het
Ly75	C	T	2: 60,316,098	E1279K	probably benign	Het
Lztr1	T	A	16: 17,519,441	C233S	probably benign	Het
Mfsd6l	T	G	11: 68,556,710	I129S	probably benign	Het
Mrgprx2	T	A	7: 48,499,190		probably benign	Het
Olfr1115	T	A	2: 87,252,202	Y88*	probably null	Het
Olfr1121	T	A	2: 87,372,141	M203K	possibly damaging	Het
Olfr447	G	T	6: 42,911,891	V123L	possibly damaging	Het
Olfr948	A	C	9: 39,318,723	V297G	probably damaging	Het
Pde6a	A	G	18: 61,263,976	H631R	probably damaging	Het
Pfkl	C	T	10: 77,988,960	G665D	probably damaging	Het
Pik3ap1	T	A	19: 41,281,991	E753V	probably damaging	Het
Pik3cd	G	T	4: 149,655,598	R502S	probably benign	Het
Piwil2	T	A	14: 70,390,535	I762L	probably benign	Het
Pkd1	T	A	17: 24,565,662	L394*	probably null	Het
Plekhb2	A	G	1: 34,876,965	D195G	probably benign	Het
Plppr5	T	C	3: 117,662,454	M208T	probably damaging	Het
Polr2i	G	A	7: 30,233,088	V115I	unknown	Het
Prkacb	T	C	3: 146,750,484	S187G	probably null	Het
Prkag3	G	T	1: 74,741,194	H437Q	probably benign	Het
Prlr	T	A	15: 10,319,266	Y94N	probably damaging	Het
Prmt6	T	C	3: 110,249,898	I358M	probably benign	Het
Psd4	A	G	2: 24,397,480	R475G		Het
Rad51b	G	A	12: 79,300,643	C27Y	probably damaging	Het
Scfd2	A	G	5: 74,530,964	L219P	probably damaging	Het
Scn5a	G	A	9: 119,552,076		probably benign	Het
Sec24d	T	C	3: 123,327,638	V391A	probably benign	Het
Selenbp2	T	A	3: 94,700,025	L251Q	probably damaging	Het
Sh3rf1	T	C	8: 61,374,168	V652A	probably benign	Het
Slc11a2	A	G	15: 100,403,305	V289A	probably benign	Het
Sox8	T	A	17: 25,570,161	Y121F	probably damaging	Het
Taar7a	A	T	10: 23,992,835	I216N	probably damaging	Het
Tanc1	T	A	2: 59,791,880	S448T	probably benign	Het
Tas2r119	G	A	15: 32,178,080	G264D	probably damaging	Het
Trav7-6	A	G	14: 53,717,147	K65E	probably benign	Het
Trim17	A	G	11: 58,965,231	E38G	probably damaging	Het
Ttn	T	A	2: 76,741,620	M26310L	probably damaging	Het
Unc13c	T	G	9: 73,546,040	I1823L	probably benign	Het
Vav2	C	A	2: 27,270,139	E728*	probably null	Het
Virma	A	G	4: 11,540,494	D1465G	probably benign	Het
Vmn2r72	T	G	7: 85,749,180	M531L	probably benign	Het
Vwa3b	G	A	1: 37,164,516	V59I	possibly damaging	Het
Xrcc1	G	A	7: 24,572,217	E542K	probably benign	Het
Zdhhc6	T	G	19: 55,298,886	T381P	probably benign	Het
Zdhhc8	T	C	16: 18,223,277	S740G	probably damaging	Het
Zfp106	T	C	2: 120,533,538	K819R	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
R8989:Insrr	UTSW	3	87815357	missense	probably damaging	0.96
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'- CAAGGTCAGGGGATTTTAGGTC -3'
(R):5'- ATGTCACTGAGTGCAGGCTG -3'

Sequencing Primer
(F):5'- TTTAGGTCAGGATTAGGATGACAC -3'
(R):5'- AGGCCGGGGTTGTTCTACAG -3'

Posted On

2021-10-11