Mutagenetix > Incidental Mutation

Incidental Mutation 'R2080:Insrr'

229403

Institutional Source

Beutler Lab

Gene Symbol

Insrr

Ensembl Gene

ENSMUSG00000005640

Gene Name

insulin receptor-related receptor

Synonyms

MMRRC Submission

040085-MU

Accession Numbers

Essential gene?

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

Stock #

R2080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87704258-87723408 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87721598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1168 (I1168T)

Ref Sequence

ENSEMBL: ENSMUSP00000103208 (fasta)

Gene Model

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

AlphaFold

Q9WTL4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029711
AA Change: I1168T

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029711
Gene: ENSMUSG00000005640
AA Change: I1168T

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

possibly damaging
Transcript: ENSMUST00000107582
AA Change: I1168T

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103208
Gene: ENSMUSG00000005640
AA Change: I1168T

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

0.1512

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,119,792 (GRCm39)	D183V	probably damaging	Het
Ambra1	T	A	2: 91,716,064 (GRCm39)	D858E	probably damaging	Het
Amdhd2	T	C	17: 24,375,578 (GRCm39)	T370A	probably benign	Het
Amy1	A	G	3: 113,351,743 (GRCm39)	W449R	probably benign	Het
Aox3	A	T	1: 58,225,439 (GRCm39)	I1179F	probably benign	Het
Atp10a	C	A	7: 58,474,075 (GRCm39)	Q1121K	probably damaging	Het
Btaf1	C	T	19: 36,928,548 (GRCm39)	A123V	probably benign	Het
Car6	T	C	4: 150,282,598 (GRCm39)	K16E	probably benign	Het
Cgnl1	C	T	9: 71,563,378 (GRCm39)	D779N	probably benign	Het
Cyp2a4	G	A	7: 26,007,962 (GRCm39)	R123Q	possibly damaging	Het
D430041D05Rik	C	T	2: 103,987,161 (GRCm39)	R1895Q	probably damaging	Het
D5Ertd579e	T	A	5: 36,773,550 (GRCm39)	T282S	probably benign	Het
Dsel	T	C	1: 111,787,692 (GRCm39)	T948A	probably benign	Het
Ednrb	A	T	14: 104,080,536 (GRCm39)	I126N	probably damaging	Het
Egln1	A	G	8: 125,675,045 (GRCm39)	M250T	probably benign	Het
Epb41l3	A	T	17: 69,560,463 (GRCm39)	I337L	possibly damaging	Het
Epg5	T	C	18: 77,991,960 (GRCm39)	I219T	probably benign	Het
Gm13030	T	C	4: 138,600,730 (GRCm39)		probably benign	Het
Gm1527	T	A	3: 28,980,810 (GRCm39)	C637S	probably benign	Het
H1f1	A	G	13: 23,947,932 (GRCm39)	N78S	possibly damaging	Het
Ireb2	T	C	9: 54,803,836 (GRCm39)	V509A	possibly damaging	Het
Kmt2c	T	C	5: 25,559,715 (GRCm39)	D981G	probably damaging	Het
Ktn1	A	G	14: 47,963,417 (GRCm39)	E1164G	probably damaging	Het
L3hypdh	A	T	12: 72,126,301 (GRCm39)	V213E	probably damaging	Het
Masp1	T	G	16: 23,310,709 (GRCm39)	D241A	probably damaging	Het
Mfsd13b	A	G	7: 120,591,047 (GRCm39)	I1V	probably null	Het
Muc5b	T	C	7: 141,423,491 (GRCm39)	V4531A	probably benign	Het
Myh2	A	T	11: 67,065,767 (GRCm39)		probably null	Het
Naip5	A	G	13: 100,358,041 (GRCm39)	L1065P	probably damaging	Het
Necab1	T	C	4: 15,140,219 (GRCm39)		probably benign	Het
Nemf	A	G	12: 69,400,560 (GRCm39)		probably benign	Het
Nfil3	A	T	13: 53,122,069 (GRCm39)	D278E	possibly damaging	Het
Nup98	T	C	7: 101,829,631 (GRCm39)	N393S	probably damaging	Het
Ogdh	T	A	11: 6,299,393 (GRCm39)	M753K	probably benign	Het
Or13c3	T	C	4: 52,855,568 (GRCm39)	Y315C	probably benign	Het
Or2b6	A	T	13: 21,823,606 (GRCm39)	V29E	probably damaging	Het
Or4k47	C	T	2: 111,452,084 (GRCm39)	V112M	probably benign	Het
Or51f5	T	C	7: 102,424,450 (GRCm39)	F240L	probably benign	Het
Or8b42	T	A	9: 38,342,378 (GRCm39)	S267T	probably benign	Het
Pkd2	A	G	5: 104,624,989 (GRCm39)	K262E	probably benign	Het
Plce1	C	T	19: 38,715,457 (GRCm39)		probably benign	Het
Ppm1f	T	A	16: 16,741,744 (GRCm39)	M406K	possibly damaging	Het
Ptgs1	C	T	2: 36,132,859 (GRCm39)	Q286*	probably null	Het
Scube2	T	C	7: 109,407,712 (GRCm39)	T743A	possibly damaging	Het
Tipin	T	A	9: 64,197,658 (GRCm39)	L69*	probably null	Het
Tlk1	T	A	2: 70,568,789 (GRCm39)	K404N	probably damaging	Het
Tmem59	C	A	4: 107,035,971 (GRCm39)	L16I	probably damaging	Het
Utrn	T	C	10: 12,612,826 (GRCm39)	E426G	probably benign	Het
Xdh	A	T	17: 74,216,320 (GRCm39)	S709T	probably damaging	Het
Yjefn3	T	C	8: 70,342,137 (GRCm39)	N28D	probably damaging	Het
Zfp598	A	C	17: 24,898,641 (GRCm39)	D480A	probably damaging	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
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
R6727: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'- TTTGAGCTCACACATTCCACAATG -3'
(R):5'- AGGGTCACAATCTCCCAGAG -3'

Sequencing Primer
(F):5'- CCACAATGTTTAGAGAGAATGTAGAG -3'
(R):5'- TCACAATCTCCCAGAGCACCAC -3'

Posted On

2014-09-17