Mutagenetix > Incidental Mutation

Incidental Mutation 'R6727:Insrr'

529896

Institutional Source

Beutler Lab

Gene Symbol

Insrr

Ensembl Gene

ENSMUSG00000005640

Gene Name

insulin receptor-related receptor

Synonyms

MMRRC Submission

044845-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R6727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87704258-87723408 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87720873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1044 (R1044C)

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: R1044C

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

SMART Domains

Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640
AA Change: R1044C

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: R1044C

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

SMART Domains

Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640
AA Change: R1044C

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

98% (44/45)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109A12Rik	A	G	5: 93,354,434 (GRCm39)		probably benign	Het
4930563M21Rik	C	T	9: 55,896,760 (GRCm39)	V283I	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Allc	T	A	12: 28,607,388 (GRCm39)	H288L	probably damaging	Het
Atg16l1	T	C	1: 87,702,576 (GRCm39)	I279T	possibly damaging	Het
Atp6v1b1	A	G	6: 83,728,857 (GRCm39)		probably benign	Het
Barhl1	G	A	2: 28,805,495 (GRCm39)	P66L	probably benign	Het
Brd8dc	T	A	18: 34,713,894 (GRCm39)	M244L	probably benign	Het
Cfap58	A	T	19: 47,943,856 (GRCm39)	D352V	probably benign	Het
Cyp3a44	T	A	5: 145,731,781 (GRCm39)	K122*	probably null	Het
Dnai1	G	T	4: 41,625,308 (GRCm39)	R424L	probably benign	Het
Dync1li2	G	T	8: 105,167,167 (GRCm39)	H79Q	probably damaging	Het
Fem1b	A	G	9: 62,704,015 (GRCm39)	V415A	possibly damaging	Het
Fgb	C	T	3: 82,954,094 (GRCm39)	S48N	possibly damaging	Het
Gm5624	T	C	14: 44,799,332 (GRCm39)	D31G	possibly damaging	Het
Gzmn	T	A	14: 56,403,432 (GRCm39)	I226F	probably damaging	Het
H2-T5	A	T	17: 36,476,622 (GRCm39)	V284E	probably damaging	Het
Il31ra	T	C	13: 112,683,902 (GRCm39)	S184G	probably damaging	Het
Kcnj15	A	G	16: 95,097,193 (GRCm39)	S272G	probably damaging	Het
Kcnk16	C	T	14: 20,312,997 (GRCm39)	A106T	probably benign	Het
Kmt2b	A	G	7: 30,283,984 (GRCm39)	V876A	probably damaging	Het
Large2	G	T	2: 92,201,215 (GRCm39)		probably benign	Het
Maml2	A	T	9: 13,532,847 (GRCm39)		probably benign	Het
Me1	A	G	9: 86,464,851 (GRCm39)	L533P	possibly damaging	Het
Muc16	A	G	9: 18,477,986 (GRCm39)		probably null	Het
Nova2	C	A	7: 18,692,419 (GRCm39)	T516K	probably damaging	Het
Or1l4	T	A	2: 37,092,118 (GRCm39)	N288K	probably damaging	Het
Or56b1	T	C	7: 104,285,094 (GRCm39)	I71T	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Ppp2r1a	T	A	17: 21,176,087 (GRCm39)	V103E	probably benign	Het
Prl3d3	G	A	13: 27,341,147 (GRCm39)		probably null	Het
Rhbdf1	G	T	11: 32,164,042 (GRCm39)	A288E	possibly damaging	Het
Rnf213	T	C	11: 119,321,147 (GRCm39)	S1202P	possibly damaging	Het
Slc25a17	A	G	15: 81,222,154 (GRCm39)	V106A	probably benign	Het
Slc4a4	T	G	5: 89,318,624 (GRCm39)	S640A	probably benign	Het
Smc4	T	A	3: 68,924,105 (GRCm39)	Y298N	probably damaging	Het
Tek	G	T	4: 94,741,732 (GRCm39)	G830*	probably null	Het
Tgfb1	A	T	7: 25,388,587 (GRCm39)		probably benign	Het
Themis	T	C	10: 28,657,903 (GRCm39)	I157T	probably damaging	Het
Trmt12	A	G	15: 58,744,514 (GRCm39)		probably benign	Het
Trrap	T	C	5: 144,793,760 (GRCm39)	W3654R	probably damaging	Het
Tspan3	C	T	9: 56,054,724 (GRCm39)	G108S	probably damaging	Het
Ugt1a10	T	A	1: 87,983,979 (GRCm39)		probably null	Het
Vps13b	A	G	15: 35,770,829 (GRCm39)	K2091E	probably benign	Het
Wdr62	A	T	7: 29,971,045 (GRCm39)	V184D	probably damaging	Het
Zfp958	C	A	8: 4,678,247 (GRCm39)	Q90K	probably benign	Het

Other mutations in Insrr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Insrr	APN	3	87,720,981 (GRCm39)	critical splice donor site	probably null
IGL00801:Insrr	APN	3	87,721,115 (GRCm39)	missense	probably damaging	1.00
IGL01628:Insrr	APN	3	87,708,099 (GRCm39)	nonsense	probably null
IGL01755:Insrr	APN	3	87,721,493 (GRCm39)	missense	probably damaging	1.00
IGL02100:Insrr	APN	3	87,718,927 (GRCm39)	missense	probably damaging	1.00
IGL02261:Insrr	APN	3	87,708,029 (GRCm39)	missense	probably damaging	1.00
IGL02366:Insrr	APN	3	87,717,216 (GRCm39)	missense	possibly damaging	0.91
IGL02387:Insrr	APN	3	87,720,434 (GRCm39)	missense	probably damaging	1.00
IGL02478:Insrr	APN	3	87,716,719 (GRCm39)	missense	probably benign	0.14
IGL02550:Insrr	APN	3	87,711,805 (GRCm39)	missense	probably damaging	1.00
IGL02555:Insrr	APN	3	87,721,124 (GRCm39)	missense	probably damaging	0.99
IGL02673:Insrr	APN	3	87,720,368 (GRCm39)	missense	possibly damaging	0.95
IGL02724:Insrr	APN	3	87,716,879 (GRCm39)	missense	probably benign	0.31
IGL02798:Insrr	APN	3	87,717,824 (GRCm39)	missense	probably damaging	1.00
IGL02969:Insrr	APN	3	87,721,498 (GRCm39)	nonsense	probably null
IGL03073:Insrr	APN	3	87,717,245 (GRCm39)	splice site	probably benign
IGL03178:Insrr	APN	3	87,709,848 (GRCm39)	splice site	probably null
IGL03389:Insrr	APN	3	87,716,038 (GRCm39)	missense	probably damaging	1.00
IGL03399:Insrr	APN	3	87,716,638 (GRCm39)	missense	probably null	0.99
IGL02799:Insrr	UTSW	3	87,720,888 (GRCm39)	missense	probably damaging	1.00
R0011:Insrr	UTSW	3	87,716,923 (GRCm39)	missense	possibly damaging	0.86
R0053:Insrr	UTSW	3	87,707,759 (GRCm39)	missense	probably damaging	1.00
R0053:Insrr	UTSW	3	87,707,759 (GRCm39)	missense	probably damaging	1.00
R0357:Insrr	UTSW	3	87,715,953 (GRCm39)	splice site	probably null
R0501:Insrr	UTSW	3	87,717,991 (GRCm39)	missense	probably benign	0.12
R0504:Insrr	UTSW	3	87,720,463 (GRCm39)	missense	possibly damaging	0.69
R0522:Insrr	UTSW	3	87,708,179 (GRCm39)	missense	probably damaging	1.00
R0555:Insrr	UTSW	3	87,721,744 (GRCm39)	splice site	probably benign
R0558:Insrr	UTSW	3	87,718,288 (GRCm39)	missense	possibly damaging	0.77
R0599:Insrr	UTSW	3	87,720,440 (GRCm39)	missense	probably damaging	0.97
R1312:Insrr	UTSW	3	87,707,797 (GRCm39)	missense	probably damaging	1.00
R1694:Insrr	UTSW	3	87,711,369 (GRCm39)	missense	probably benign
R1785:Insrr	UTSW	3	87,717,879 (GRCm39)	splice site	probably null
R1786:Insrr	UTSW	3	87,717,879 (GRCm39)	splice site	probably null
R1892:Insrr	UTSW	3	87,721,184 (GRCm39)	missense	probably damaging	1.00
R1950:Insrr	UTSW	3	87,721,820 (GRCm39)	missense	probably damaging	1.00
R2080:Insrr	UTSW	3	87,721,598 (GRCm39)	missense	possibly damaging	0.79
R2094:Insrr	UTSW	3	87,710,488 (GRCm39)	missense	probably damaging	1.00
R2130:Insrr	UTSW	3	87,717,879 (GRCm39)	splice site	probably null
R2131:Insrr	UTSW	3	87,717,879 (GRCm39)	splice site	probably null
R2133:Insrr	UTSW	3	87,717,879 (GRCm39)	splice site	probably null
R2220:Insrr	UTSW	3	87,716,725 (GRCm39)	missense	probably damaging	1.00
R2259:Insrr	UTSW	3	87,707,759 (GRCm39)	missense	probably damaging	1.00
R2404:Insrr	UTSW	3	87,709,974 (GRCm39)	missense	possibly damaging	0.71
R4027:Insrr	UTSW	3	87,716,906 (GRCm39)	missense	probably benign
R4042:Insrr	UTSW	3	87,721,134 (GRCm39)	missense	probably damaging	1.00
R4510:Insrr	UTSW	3	87,715,978 (GRCm39)	missense	possibly damaging	0.67
R4511:Insrr	UTSW	3	87,715,978 (GRCm39)	missense	possibly damaging	0.67
R4571:Insrr	UTSW	3	87,708,194 (GRCm39)	missense	probably benign
R4870:Insrr	UTSW	3	87,718,911 (GRCm39)	missense	probably damaging	1.00
R5057:Insrr	UTSW	3	87,722,572 (GRCm39)	missense	probably benign	0.00
R5393:Insrr	UTSW	3	87,718,007 (GRCm39)	splice site	probably null
R5685:Insrr	UTSW	3	87,707,803 (GRCm39)	splice site	probably null
R6039:Insrr	UTSW	3	87,716,608 (GRCm39)	missense	possibly damaging	0.56
R6039:Insrr	UTSW	3	87,716,608 (GRCm39)	missense	possibly damaging	0.56
R6047:Insrr	UTSW	3	87,711,483 (GRCm39)	missense	probably damaging	1.00
R6276:Insrr	UTSW	3	87,707,826 (GRCm39)	nonsense	probably null
R6298:Insrr	UTSW	3	87,720,272 (GRCm39)	missense	probably damaging	1.00
R6726:Insrr	UTSW	3	87,720,873 (GRCm39)	missense	probably damaging	1.00
R6728:Insrr	UTSW	3	87,720,873 (GRCm39)	missense	probably damaging	1.00
R6796:Insrr	UTSW	3	87,720,873 (GRCm39)	missense	probably damaging	1.00
R7041:Insrr	UTSW	3	87,722,551 (GRCm39)	missense	probably damaging	1.00
R7169:Insrr	UTSW	3	87,715,901 (GRCm39)	missense	probably benign	0.15
R7270:Insrr	UTSW	3	87,710,440 (GRCm39)	missense	probably damaging	1.00
R7340:Insrr	UTSW	3	87,721,623 (GRCm39)	critical splice donor site	probably null
R7398:Insrr	UTSW	3	87,716,039 (GRCm39)	missense	probably damaging	1.00
R7473:Insrr	UTSW	3	87,711,838 (GRCm39)	splice site	probably null
R7815:Insrr	UTSW	3	87,716,002 (GRCm39)	missense	probably damaging	0.98
R8159:Insrr	UTSW	3	87,707,735 (GRCm39)	missense	probably damaging	1.00
R8289:Insrr	UTSW	3	87,721,501 (GRCm39)	missense	probably damaging	1.00
R8309:Insrr	UTSW	3	87,717,749 (GRCm39)	missense	probably benign	0.00
R8312:Insrr	UTSW	3	87,707,791 (GRCm39)	missense	possibly damaging	0.93
R8445:Insrr	UTSW	3	87,720,891 (GRCm39)	missense	probably damaging	1.00
R8917:Insrr	UTSW	3	87,718,276 (GRCm39)	missense	probably benign	0.00
R8960:Insrr	UTSW	3	87,720,386 (GRCm39)	missense	probably damaging	1.00
R8989:Insrr	UTSW	3	87,722,664 (GRCm39)	missense	probably damaging	0.96
R9015:Insrr	UTSW	3	87,720,910 (GRCm39)	missense	probably damaging	1.00
R9202:Insrr	UTSW	3	87,720,427 (GRCm39)	missense	probably damaging	1.00
R9251:Insrr	UTSW	3	87,717,391 (GRCm39)	missense	probably benign	0.08
R9327:Insrr	UTSW	3	87,721,604 (GRCm39)	missense	probably damaging	1.00
R9646:Insrr	UTSW	3	87,721,805 (GRCm39)	missense	probably damaging	1.00
RF022:Insrr	UTSW	3	87,711,792 (GRCm39)	missense	possibly damaging	0.51
Z1177:Insrr	UTSW	3	87,708,134 (GRCm39)	missense	possibly damaging	0.91
Z1192:Insrr	UTSW	3	87,709,886 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGCACGTCATGATTATGGTG -3'
(R):5'- TCATGTCACTGAGTGCAGGC -3'

Sequencing Primer
(F):5'- GCACGTCATGATTATGGTGATAATC -3'
(R):5'- GGTGAAGGACTTCCCCACAC -3'

Posted On

2018-08-01