Mutagenetix > Incidental Mutation

Incidental Mutation 'R2179:Igf1r'

237051

Institutional Source

Beutler Lab

Gene Symbol

Igf1r

Ensembl Gene

ENSMUSG00000005533

Gene Name

insulin-like growth factor I receptor

Synonyms

IGF-1R, line 186, A330103N21Rik, hyft, CD221

MMRRC Submission

040181-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2179 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67602575-67883416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67653698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 79 (T79A)

Ref Sequence

ENSEMBL: ENSMUSP00000005671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005671]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000005671
AA Change: T79A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: T79A

Domain	Start	End	E-Value	Type
Pfam:Recep_L_domain	51	161	1.6e-29	PFAM
FU	227	270	2.98e-12	SMART
Pfam:Recep_L_domain	353	467	3.8e-32	PFAM
FN3	490	593	4.67e-2	SMART
FN3	612	815	1.95e-4	SMART
FN3	833	915	7.4e-5	SMART
low complexity region	937	954	N/A	INTRINSIC
TyrKc	1000	1268	8.51e-141	SMART
low complexity region	1285	1303	N/A	INTRINSIC
low complexity region	1306	1319	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Targeted null mutants die at birth of respiratory failure; fetuses exhibit retarded growth, organ hypoplasia, ossification delay and nervous system and epidermal abnormalities. hyft homozygous fetuses are growth retarded and exhibit hydrops fetalis and focal hepatic ischemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,271,018 (GRCm39)	D849G	possibly damaging	Het
Amz2	A	G	11: 109,320,658 (GRCm39)	H155R	probably damaging	Het
Cfhr4	G	T	1: 139,659,279 (GRCm39)	P679Q	probably damaging	Het
Chuk	C	A	19: 44,092,160 (GRCm39)	C46F	possibly damaging	Het
Cp	A	T	3: 20,042,151 (GRCm39)	D973V	probably damaging	Het
Cpm	T	A	10: 117,519,266 (GRCm39)	D391E	probably benign	Het
Creb3	T	C	4: 43,566,306 (GRCm39)	S271P	probably damaging	Het
Cubn	T	A	2: 13,323,053 (GRCm39)	H2838L	possibly damaging	Het
Dennd2d	A	G	3: 106,399,776 (GRCm39)	H233R	probably benign	Het
Dnaaf2	C	A	12: 69,245,071 (GRCm39)		probably benign	Het
Enpp3	T	A	10: 24,681,793 (GRCm39)	Q304H	probably benign	Het
Fermt3	C	A	19: 6,991,782 (GRCm39)	R143L	probably benign	Het
Fndc8	A	C	11: 82,789,580 (GRCm39)	K246T	probably damaging	Het
Gaa	A	G	11: 119,165,884 (GRCm39)		probably null	Het
Gucy2e	A	T	11: 69,119,404 (GRCm39)		probably null	Het
Ikbkb	C	T	8: 23,171,769 (GRCm39)		probably null	Het
Il16	A	T	7: 83,337,287 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,267,940 (GRCm39)	H92L	possibly damaging	Het
Itpr2	A	G	6: 146,277,464 (GRCm39)	M315T	probably benign	Het
Lrba	T	G	3: 86,261,588 (GRCm39)	L1514R	probably damaging	Het
Mcpt2	A	G	14: 56,279,573 (GRCm39)		probably benign	Het
Metap1d	A	G	2: 71,283,715 (GRCm39)	I5V	probably benign	Het
Mga	T	A	2: 119,790,923 (GRCm39)	S2479T	probably damaging	Het
Mllt10	T	C	2: 18,215,604 (GRCm39)	V1063A	probably damaging	Het
Mroh2b	G	A	15: 4,950,928 (GRCm39)		probably null	Het
Mtfr1	C	T	3: 19,254,308 (GRCm39)	R15*	probably null	Het
Npm2	A	G	14: 70,885,749 (GRCm39)	V152A	probably benign	Het
Nrxn3	T	A	12: 89,221,448 (GRCm39)	V409D	probably damaging	Het
Ogdhl	A	G	14: 32,057,302 (GRCm39)	N303D	probably damaging	Het
Or10g9	T	C	9: 39,912,220 (GRCm39)	Y101C	probably benign	Het
Or10q1b	T	C	19: 13,682,758 (GRCm39)	V189A	probably damaging	Het
Or4d11	T	C	19: 12,013,452 (GRCm39)	Y218C	probably damaging	Het
Or6s1	A	G	14: 51,308,238 (GRCm39)	V204A	probably benign	Het
Pah	T	C	10: 87,403,197 (GRCm39)	F191L	probably damaging	Het
Paics	A	T	5: 77,109,291 (GRCm39)	I209F	probably damaging	Het
Pcare	T	C	17: 72,059,521 (GRCm39)	D52G	probably damaging	Het
Pld6	A	G	11: 59,678,184 (GRCm39)	L93P	probably damaging	Het
Plod3	T	C	5: 137,019,862 (GRCm39)	F431L	possibly damaging	Het
Ppm1b	T	A	17: 85,301,862 (GRCm39)	D247E	probably damaging	Het
Prx	A	G	7: 27,217,410 (GRCm39)	D637G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,720,679 (GRCm39)	Y2656*	probably null	Het
Setd2	T	A	9: 110,423,756 (GRCm39)	Y492*	probably null	Het
Shmt1	A	G	11: 60,697,825 (GRCm39)	W9R	possibly damaging	Het
Slc25a17	A	G	15: 81,222,151 (GRCm39)	V107A	probably benign	Het
Sptlc1	A	T	13: 53,505,675 (GRCm39)	Y248N	probably damaging	Het
Stam2	T	C	2: 52,584,936 (GRCm39)	T453A	probably benign	Het
Tango2	G	T	16: 18,128,762 (GRCm39)	N77K	probably damaging	Het
Tas2r121	A	T	6: 132,677,831 (GRCm39)	I47N	probably damaging	Het
Terb1	A	T	8: 105,179,347 (GRCm39)	C614S	probably damaging	Het
Terb1	T	C	8: 105,199,369 (GRCm39)	N525S	probably benign	Het
Ttc6	A	G	12: 57,719,904 (GRCm39)	D825G	possibly damaging	Het
U90926	A	T	5: 92,357,838 (GRCm39)	H104Q	probably benign	Het
Zfand4	G	A	6: 116,291,742 (GRCm39)	A559T	possibly damaging	Het
Zfp462	T	C	4: 55,009,524 (GRCm39)	S497P	possibly damaging	Het

Other mutations in Igf1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Igf1r	APN	7	67,839,771 (GRCm39)	missense	probably benign
IGL00837:Igf1r	APN	7	67,851,100 (GRCm39)	splice site	probably benign
IGL01515:Igf1r	APN	7	67,857,200 (GRCm39)	missense	probably damaging	1.00
IGL01572:Igf1r	APN	7	67,843,189 (GRCm39)	missense	probably benign	0.01
IGL02100:Igf1r	APN	7	67,839,706 (GRCm39)	missense	probably benign	0.05
IGL02506:Igf1r	APN	7	67,843,144 (GRCm39)	missense	probably benign
IGL02672:Igf1r	APN	7	67,839,781 (GRCm39)	missense	probably benign	0.05
IGL02701:Igf1r	APN	7	67,850,997 (GRCm39)	missense	possibly damaging	0.93
IGL02742:Igf1r	APN	7	67,839,739 (GRCm39)	missense	possibly damaging	0.94
IGL03073:Igf1r	APN	7	67,864,791 (GRCm39)	missense	probably damaging	1.00
IGL03257:Igf1r	APN	7	67,864,688 (GRCm39)	missense	probably damaging	1.00
Frufru	UTSW	7	67,653,911 (GRCm39)	missense	probably damaging	1.00
Hungarian	UTSW	7	67,864,745 (GRCm39)	missense	probably damaging	1.00
Mimi	UTSW	7	67,844,774 (GRCm39)	missense	possibly damaging	0.67
Piroshka	UTSW	7	67,857,084 (GRCm39)	nonsense	probably null
Romanian	UTSW	7	67,653,885 (GRCm39)	missense	possibly damaging	0.94
Sublime	UTSW	7	67,653,927 (GRCm39)	missense	probably damaging	1.00
Toy	UTSW	7	67,653,720 (GRCm39)	missense	probably damaging	1.00
BB009:Igf1r	UTSW	7	67,861,802 (GRCm39)	missense	possibly damaging	0.88
BB019:Igf1r	UTSW	7	67,861,802 (GRCm39)	missense	possibly damaging	0.88
FR4548:Igf1r	UTSW	7	67,875,934 (GRCm39)	small insertion	probably benign
FR4737:Igf1r	UTSW	7	67,875,929 (GRCm39)	small insertion	probably benign
FR4976:Igf1r	UTSW	7	67,875,934 (GRCm39)	small insertion	probably benign
FR4976:Igf1r	UTSW	7	67,875,929 (GRCm39)	small insertion	probably benign
PIT4445001:Igf1r	UTSW	7	67,857,211 (GRCm39)	missense	probably damaging	1.00
R0003:Igf1r	UTSW	7	67,814,990 (GRCm39)	missense	probably damaging	1.00
R0184:Igf1r	UTSW	7	67,875,941 (GRCm39)	missense	possibly damaging	0.84
R0538:Igf1r	UTSW	7	67,857,574 (GRCm39)	missense	probably damaging	1.00
R0632:Igf1r	UTSW	7	67,814,903 (GRCm39)	missense	probably damaging	1.00
R0727:Igf1r	UTSW	7	67,861,906 (GRCm39)	critical splice donor site	probably null
R0750:Igf1r	UTSW	7	67,861,839 (GRCm39)	missense	probably damaging	0.99
R1104:Igf1r	UTSW	7	67,844,774 (GRCm39)	missense	possibly damaging	0.67
R1169:Igf1r	UTSW	7	67,814,875 (GRCm39)	missense	probably benign	0.00
R1348:Igf1r	UTSW	7	67,868,216 (GRCm39)	missense	probably damaging	1.00
R1471:Igf1r	UTSW	7	67,653,585 (GRCm39)	missense	probably damaging	0.98
R1580:Igf1r	UTSW	7	67,857,617 (GRCm39)	missense	probably benign
R1745:Igf1r	UTSW	7	67,819,661 (GRCm39)	missense	probably damaging	1.00
R1772:Igf1r	UTSW	7	67,844,822 (GRCm39)	missense	probably benign	0.03
R1789:Igf1r	UTSW	7	67,864,681 (GRCm39)	nonsense	probably null
R1823:Igf1r	UTSW	7	67,844,729 (GRCm39)	missense	possibly damaging	0.77
R1902:Igf1r	UTSW	7	67,850,997 (GRCm39)	missense	possibly damaging	0.93
R1962:Igf1r	UTSW	7	67,857,023 (GRCm39)	missense	probably damaging	0.99
R2215:Igf1r	UTSW	7	67,814,982 (GRCm39)	missense	probably benign
R2221:Igf1r	UTSW	7	67,851,710 (GRCm39)	missense	probably damaging	1.00
R2233:Igf1r	UTSW	7	67,861,828 (GRCm39)	missense	probably damaging	1.00
R2234:Igf1r	UTSW	7	67,861,828 (GRCm39)	missense	probably damaging	1.00
R2235:Igf1r	UTSW	7	67,861,828 (GRCm39)	missense	probably damaging	1.00
R3023:Igf1r	UTSW	7	67,833,147 (GRCm39)	missense	probably benign	0.00
R4044:Igf1r	UTSW	7	67,839,810 (GRCm39)	missense	possibly damaging	0.83
R4226:Igf1r	UTSW	7	67,844,826 (GRCm39)	nonsense	probably null
R4387:Igf1r	UTSW	7	67,819,757 (GRCm39)	missense	probably benign
R4388:Igf1r	UTSW	7	67,819,757 (GRCm39)	missense	probably benign
R4728:Igf1r	UTSW	7	67,839,372 (GRCm39)	missense	probably damaging	1.00
R4781:Igf1r	UTSW	7	67,814,947 (GRCm39)	missense	possibly damaging	0.75
R5254:Igf1r	UTSW	7	67,857,067 (GRCm39)	missense	probably damaging	0.99
R5278:Igf1r	UTSW	7	67,843,166 (GRCm39)	missense	possibly damaging	0.78
R5510:Igf1r	UTSW	7	67,843,107 (GRCm39)	missense	probably benign	0.19
R5522:Igf1r	UTSW	7	67,833,258 (GRCm39)	missense	probably damaging	0.96
R5527:Igf1r	UTSW	7	67,857,569 (GRCm39)	missense	probably damaging	1.00
R5761:Igf1r	UTSW	7	67,857,001 (GRCm39)	missense	probably damaging	1.00
R5849:Igf1r	UTSW	7	67,839,781 (GRCm39)	missense	probably benign
R6189:Igf1r	UTSW	7	67,857,084 (GRCm39)	nonsense	probably null
R6262:Igf1r	UTSW	7	67,653,720 (GRCm39)	missense	probably damaging	1.00
R6285:Igf1r	UTSW	7	67,653,885 (GRCm39)	missense	possibly damaging	0.94
R6318:Igf1r	UTSW	7	67,814,981 (GRCm39)	missense	probably benign	0.02
R6365:Igf1r	UTSW	7	67,839,798 (GRCm39)	missense	probably benign	0.26
R6377:Igf1r	UTSW	7	67,850,998 (GRCm39)	missense	probably benign	0.00
R6831:Igf1r	UTSW	7	67,857,067 (GRCm39)	missense	possibly damaging	0.75
R6848:Igf1r	UTSW	7	67,653,927 (GRCm39)	missense	probably damaging	1.00
R6902:Igf1r	UTSW	7	67,653,911 (GRCm39)	missense	probably damaging	1.00
R7193:Igf1r	UTSW	7	67,836,905 (GRCm39)	missense	probably damaging	1.00
R7373:Igf1r	UTSW	7	67,844,826 (GRCm39)	nonsense	probably null
R7442:Igf1r	UTSW	7	67,823,026 (GRCm39)	missense	probably damaging	1.00
R7903:Igf1r	UTSW	7	67,834,500 (GRCm39)	missense	probably damaging	1.00
R7923:Igf1r	UTSW	7	67,839,849 (GRCm39)	missense	probably damaging	1.00
R7932:Igf1r	UTSW	7	67,861,802 (GRCm39)	missense	possibly damaging	0.88
R8368:Igf1r	UTSW	7	67,836,796 (GRCm39)	missense	probably benign	0.03
R8458:Igf1r	UTSW	7	67,845,377 (GRCm39)	missense	probably benign
R8539:Igf1r	UTSW	7	67,653,596 (GRCm39)	missense	probably benign	0.06
R8704:Igf1r	UTSW	7	67,819,802 (GRCm39)	splice site	probably benign
R8746:Igf1r	UTSW	7	67,864,745 (GRCm39)	missense	probably damaging	1.00
R8829:Igf1r	UTSW	7	67,875,769 (GRCm39)	missense	probably damaging	1.00
R8832:Igf1r	UTSW	7	67,875,769 (GRCm39)	missense	probably damaging	1.00
R8859:Igf1r	UTSW	7	67,833,211 (GRCm39)	missense	possibly damaging	0.75
R9057:Igf1r	UTSW	7	67,833,186 (GRCm39)	missense	probably damaging	1.00
R9243:Igf1r	UTSW	7	67,861,775 (GRCm39)	missense	probably benign	0.11
R9342:Igf1r	UTSW	7	67,844,746 (GRCm39)	missense	probably benign	0.00
R9412:Igf1r	UTSW	7	67,857,001 (GRCm39)	missense	probably damaging	1.00
R9525:Igf1r	UTSW	7	67,864,682 (GRCm39)	missense	probably damaging	1.00
R9727:Igf1r	UTSW	7	67,857,554 (GRCm39)	missense	probably damaging	1.00
R9730:Igf1r	UTSW	7	67,839,423 (GRCm39)	missense	probably damaging	1.00
R9779:Igf1r	UTSW	7	67,654,065 (GRCm39)	missense	probably damaging	1.00
RF025:Igf1r	UTSW	7	67,875,927 (GRCm39)	small insertion	probably benign
RF032:Igf1r	UTSW	7	67,875,927 (GRCm39)	small insertion	probably benign
RF034:Igf1r	UTSW	7	67,875,924 (GRCm39)	small insertion	probably benign
RF037:Igf1r	UTSW	7	67,875,924 (GRCm39)	small insertion	probably benign
RF039:Igf1r	UTSW	7	67,875,924 (GRCm39)	small insertion	probably benign
RF044:Igf1r	UTSW	7	67,875,927 (GRCm39)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	67,875,916 (GRCm39)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	67,875,930 (GRCm39)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	67,875,928 (GRCm39)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	67,875,922 (GRCm39)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	67,875,917 (GRCm39)	small insertion	probably benign
Z1191:Igf1r	UTSW	7	67,875,918 (GRCm39)	small insertion	probably benign
Z1191:Igf1r	UTSW	7	67,875,917 (GRCm39)	small insertion	probably benign
Z1191:Igf1r	UTSW	7	67,875,921 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AACCATATGCCCCGCTTTG -3'
(R):5'- CGCATCCAAGATGAGAGACCAG -3'

Sequencing Primer
(F):5'- ATATGCCCCGCTTTGCCCTC -3'
(R):5'- AACAGAGGTCGGCGTTCTTCTC -3'

Posted On

2014-10-02