Mutagenetix > Incidental Mutation

Incidental Mutation 'R6848:Igf1r'

534859

Institutional Source

Beutler Lab

Gene Symbol

Igf1r

Ensembl Gene

ENSMUSG00000005533

Gene Name

insulin-like growth factor I receptor

Synonyms

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

MMRRC Submission

045022-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67952827-68233668 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 68004179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 155 (I155R)

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: I155R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: I155R

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (54/55)

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
Acap1	T	C	11: 69,884,661 (GRCm38)	N290S	probably damaging	Het
Acox3	G	T	5: 35,592,184 (GRCm38)	G218C	probably damaging	Het
Acsf3	G	A	8: 122,790,590 (GRCm38)	G375D	probably damaging	Het
Adamts9	G	T	6: 92,863,354 (GRCm38)	N568K	possibly damaging	Het
Akr1cl	G	A	1: 65,024,769 (GRCm38)	T87I	probably damaging	Het
Brcc3dc	A	T	10: 108,699,590 (GRCm38)	V168E	probably damaging	Het
Cacna1s	G	A	1: 136,092,694 (GRCm38)	R823Q	probably benign	Het
Casp16	A	T	17: 23,551,079 (GRCm38)	C175*	probably null	Het
Cast	T	C	13: 74,695,933 (GRCm38)	K694R	possibly damaging	Het
Cep70	G	A	9: 99,262,901 (GRCm38)	R100H	probably benign	Het
Cep72	C	T	13: 74,038,276 (GRCm38)	A259T	possibly damaging	Het
Chsy1	T	A	7: 66,171,037 (GRCm38)	M340K	probably damaging	Het
Col27a1	T	C	4: 63,302,371 (GRCm38)	S182P	probably benign	Het
Crlf2	A	C	5: 109,557,031 (GRCm38)	F103V	possibly damaging	Het
Dync2h1	T	C	9: 7,159,632 (GRCm38)	N652S	probably benign	Het
Ephx4	G	A	5: 107,426,918 (GRCm38)	G274D	probably damaging	Het
Fer	T	A	17: 63,991,606 (GRCm38)	F517I	probably damaging	Het
Fsip2	A	T	2: 82,982,787 (GRCm38)	H3150L	probably benign	Het
Gata3	T	A	2: 9,858,528 (GRCm38)	N392Y	possibly damaging	Het
Gria4	C	T	9: 4,793,822 (GRCm38)	V79M	probably damaging	Het
Grk3	A	C	5: 112,985,775 (GRCm38)	N60K	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331 (GRCm38)		probably benign	Het
Igsf9	T	C	1: 172,495,762 (GRCm38)	L681P	probably damaging	Het
Intu	T	C	3: 40,694,255 (GRCm38)	M789T	probably benign	Het
Kit	A	T	5: 75,607,212 (GRCm38)	Q85L	probably benign	Het
Klhdc2	T	A	12: 69,308,976 (GRCm38)	C325*	probably null	Het
Mcidas	A	G	13: 112,993,885 (GRCm38)	E5G	probably benign	Het
Mcm5	G	T	8: 75,127,290 (GRCm38)	R724L	possibly damaging	Het
Nrbp2	G	A	15: 76,091,483 (GRCm38)		probably benign	Het
Nrg1	A	G	8: 31,818,056 (GRCm38)	I655T	probably damaging	Het
Nsun4	T	C	4: 116,052,934 (GRCm38)	D143G	possibly damaging	Het
Opn3	C	T	1: 175,663,049 (GRCm38)	V349M	probably damaging	Het
Or51ag1	A	G	7: 103,506,457 (GRCm38)	V163A	possibly damaging	Het
Or5d47	A	T	2: 87,974,170 (GRCm38)	V165E	possibly damaging	Het
Or6d14	T	C	6: 116,556,775 (GRCm38)	S117P	probably damaging	Het
Pank2	C	A	2: 131,282,626 (GRCm38)	L297I	probably damaging	Het
Pcdh20	T	A	14: 88,467,254 (GRCm38)	E870V	probably benign	Het
Pdcd6	T	A	13: 74,309,840 (GRCm38)	M71L	possibly damaging	Het
Phkb	A	T	8: 86,029,617 (GRCm38)	I847F	probably damaging	Het
Psmb1	A	G	17: 15,477,247 (GRCm38)	F202S	probably benign	Het
Pwp2	C	G	10: 78,184,293 (GRCm38)		probably null	Het
Rbms3	A	G	9: 117,251,741 (GRCm38)	Y21H	probably damaging	Het
Rhbdl1	T	A	17: 25,836,184 (GRCm38)	K17*	probably null	Het
Rp1l1	C	A	14: 64,028,218 (GRCm38)	Q418K	possibly damaging	Het
Scpppq1	A	G	5: 104,074,737 (GRCm38)		probably benign	Het
Slc22a4	A	T	11: 54,007,789 (GRCm38)	V159E	possibly damaging	Het
Spata31d1a	T	C	13: 59,701,963 (GRCm38)	T784A	possibly damaging	Het
Tll1	A	G	8: 64,098,510 (GRCm38)	M279T	probably damaging	Het
Tmem163	A	T	1: 127,551,380 (GRCm38)	V134D	probably damaging	Het
Top2b	A	G	14: 16,409,958 (GRCm38)	N875S	possibly damaging	Het
Tpd52l1	T	C	10: 31,332,857 (GRCm38)	E205G	probably benign	Het
Tpsb2	T	A	17: 25,367,828 (GRCm38)	Y271*	probably null	Het
Ugt3a1	G	A	15: 9,280,052 (GRCm38)		probably null	Het
Vmn2r67	T	C	7: 85,152,632 (GRCm38)	M154V	probably benign	Het
Zfp740	T	G	15: 102,208,808 (GRCm38)	I89S	probably benign	Het

Other mutations in Igf1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Igf1r	APN	7	68,190,023 (GRCm38)	missense	probably benign
IGL00837:Igf1r	APN	7	68,201,352 (GRCm38)	splice site	probably benign
IGL01515:Igf1r	APN	7	68,207,452 (GRCm38)	missense	probably damaging	1.00
IGL01572:Igf1r	APN	7	68,193,441 (GRCm38)	missense	probably benign	0.01
IGL02100:Igf1r	APN	7	68,189,958 (GRCm38)	missense	probably benign	0.05
IGL02506:Igf1r	APN	7	68,193,396 (GRCm38)	missense	probably benign
IGL02672:Igf1r	APN	7	68,190,033 (GRCm38)	missense	probably benign	0.05
IGL02701:Igf1r	APN	7	68,201,249 (GRCm38)	missense	possibly damaging	0.93
IGL02742:Igf1r	APN	7	68,189,991 (GRCm38)	missense	possibly damaging	0.94
IGL03073:Igf1r	APN	7	68,215,043 (GRCm38)	missense	probably damaging	1.00
IGL03257:Igf1r	APN	7	68,214,940 (GRCm38)	missense	probably damaging	1.00
Frufru	UTSW	7	68,004,163 (GRCm38)	missense	probably damaging	1.00
Hungarian	UTSW	7	68,214,997 (GRCm38)	missense	probably damaging	1.00
Mimi	UTSW	7	68,195,026 (GRCm38)	missense	possibly damaging	0.67
Piroshka	UTSW	7	68,207,336 (GRCm38)	nonsense	probably null
Romanian	UTSW	7	68,004,137 (GRCm38)	missense	possibly damaging	0.94
Sublime	UTSW	7	68,004,179 (GRCm38)	missense	probably damaging	1.00
Toy	UTSW	7	68,003,972 (GRCm38)	missense	probably damaging	1.00
BB009:Igf1r	UTSW	7	68,212,054 (GRCm38)	missense	possibly damaging	0.88
BB019:Igf1r	UTSW	7	68,212,054 (GRCm38)	missense	possibly damaging	0.88
FR4548:Igf1r	UTSW	7	68,226,186 (GRCm38)	small insertion	probably benign
FR4737:Igf1r	UTSW	7	68,226,181 (GRCm38)	small insertion	probably benign
FR4976:Igf1r	UTSW	7	68,226,186 (GRCm38)	small insertion	probably benign
FR4976:Igf1r	UTSW	7	68,226,181 (GRCm38)	small insertion	probably benign
PIT4445001:Igf1r	UTSW	7	68,207,463 (GRCm38)	missense	probably damaging	1.00
R0003:Igf1r	UTSW	7	68,165,242 (GRCm38)	missense	probably damaging	1.00
R0184:Igf1r	UTSW	7	68,226,193 (GRCm38)	missense	possibly damaging	0.84
R0538:Igf1r	UTSW	7	68,207,826 (GRCm38)	missense	probably damaging	1.00
R0632:Igf1r	UTSW	7	68,165,155 (GRCm38)	missense	probably damaging	1.00
R0727:Igf1r	UTSW	7	68,212,158 (GRCm38)	critical splice donor site	probably null
R0750:Igf1r	UTSW	7	68,212,091 (GRCm38)	missense	probably damaging	0.99
R1104:Igf1r	UTSW	7	68,195,026 (GRCm38)	missense	possibly damaging	0.67
R1169:Igf1r	UTSW	7	68,165,127 (GRCm38)	missense	probably benign	0.00
R1348:Igf1r	UTSW	7	68,218,468 (GRCm38)	missense	probably damaging	1.00
R1471:Igf1r	UTSW	7	68,003,837 (GRCm38)	missense	probably damaging	0.98
R1580:Igf1r	UTSW	7	68,207,869 (GRCm38)	missense	probably benign
R1745:Igf1r	UTSW	7	68,169,913 (GRCm38)	missense	probably damaging	1.00
R1772:Igf1r	UTSW	7	68,195,074 (GRCm38)	missense	probably benign	0.03
R1789:Igf1r	UTSW	7	68,214,933 (GRCm38)	nonsense	probably null
R1823:Igf1r	UTSW	7	68,194,981 (GRCm38)	missense	possibly damaging	0.77
R1902:Igf1r	UTSW	7	68,201,249 (GRCm38)	missense	possibly damaging	0.93
R1962:Igf1r	UTSW	7	68,207,275 (GRCm38)	missense	probably damaging	0.99
R2179:Igf1r	UTSW	7	68,003,950 (GRCm38)	missense	probably damaging	0.99
R2215:Igf1r	UTSW	7	68,165,234 (GRCm38)	missense	probably benign
R2221:Igf1r	UTSW	7	68,201,962 (GRCm38)	missense	probably damaging	1.00
R2233:Igf1r	UTSW	7	68,212,080 (GRCm38)	missense	probably damaging	1.00
R2234:Igf1r	UTSW	7	68,212,080 (GRCm38)	missense	probably damaging	1.00
R2235:Igf1r	UTSW	7	68,212,080 (GRCm38)	missense	probably damaging	1.00
R3023:Igf1r	UTSW	7	68,183,399 (GRCm38)	missense	probably benign	0.00
R4044:Igf1r	UTSW	7	68,190,062 (GRCm38)	missense	possibly damaging	0.83
R4226:Igf1r	UTSW	7	68,195,078 (GRCm38)	nonsense	probably null
R4387:Igf1r	UTSW	7	68,170,009 (GRCm38)	missense	probably benign
R4388:Igf1r	UTSW	7	68,170,009 (GRCm38)	missense	probably benign
R4728:Igf1r	UTSW	7	68,189,624 (GRCm38)	missense	probably damaging	1.00
R4781:Igf1r	UTSW	7	68,165,199 (GRCm38)	missense	possibly damaging	0.75
R5254:Igf1r	UTSW	7	68,207,319 (GRCm38)	missense	probably damaging	0.99
R5278:Igf1r	UTSW	7	68,193,418 (GRCm38)	missense	possibly damaging	0.78
R5510:Igf1r	UTSW	7	68,193,359 (GRCm38)	missense	probably benign	0.19
R5522:Igf1r	UTSW	7	68,183,510 (GRCm38)	missense	probably damaging	0.96
R5527:Igf1r	UTSW	7	68,207,821 (GRCm38)	missense	probably damaging	1.00
R5761:Igf1r	UTSW	7	68,207,253 (GRCm38)	missense	probably damaging	1.00
R5849:Igf1r	UTSW	7	68,190,033 (GRCm38)	missense	probably benign
R6189:Igf1r	UTSW	7	68,207,336 (GRCm38)	nonsense	probably null
R6262:Igf1r	UTSW	7	68,003,972 (GRCm38)	missense	probably damaging	1.00
R6285:Igf1r	UTSW	7	68,004,137 (GRCm38)	missense	possibly damaging	0.94
R6318:Igf1r	UTSW	7	68,165,233 (GRCm38)	missense	probably benign	0.02
R6365:Igf1r	UTSW	7	68,190,050 (GRCm38)	missense	probably benign	0.26
R6377:Igf1r	UTSW	7	68,201,250 (GRCm38)	missense	probably benign	0.00
R6831:Igf1r	UTSW	7	68,207,319 (GRCm38)	missense	possibly damaging	0.75
R6902:Igf1r	UTSW	7	68,004,163 (GRCm38)	missense	probably damaging	1.00
R7193:Igf1r	UTSW	7	68,187,157 (GRCm38)	missense	probably damaging	1.00
R7373:Igf1r	UTSW	7	68,195,078 (GRCm38)	nonsense	probably null
R7442:Igf1r	UTSW	7	68,173,278 (GRCm38)	missense	probably damaging	1.00
R7903:Igf1r	UTSW	7	68,184,752 (GRCm38)	missense	probably damaging	1.00
R7923:Igf1r	UTSW	7	68,190,101 (GRCm38)	missense	probably damaging	1.00
R7932:Igf1r	UTSW	7	68,212,054 (GRCm38)	missense	possibly damaging	0.88
R8368:Igf1r	UTSW	7	68,187,048 (GRCm38)	missense	probably benign	0.03
R8458:Igf1r	UTSW	7	68,195,629 (GRCm38)	missense	probably benign
R8539:Igf1r	UTSW	7	68,003,848 (GRCm38)	missense	probably benign	0.06
R8704:Igf1r	UTSW	7	68,170,054 (GRCm38)	splice site	probably benign
R8746:Igf1r	UTSW	7	68,214,997 (GRCm38)	missense	probably damaging	1.00
R8829:Igf1r	UTSW	7	68,226,021 (GRCm38)	missense	probably damaging	1.00
R8832:Igf1r	UTSW	7	68,226,021 (GRCm38)	missense	probably damaging	1.00
R8859:Igf1r	UTSW	7	68,183,463 (GRCm38)	missense	possibly damaging	0.75
R9057:Igf1r	UTSW	7	68,183,438 (GRCm38)	missense	probably damaging	1.00
R9243:Igf1r	UTSW	7	68,212,027 (GRCm38)	missense	probably benign	0.11
R9342:Igf1r	UTSW	7	68,194,998 (GRCm38)	missense	probably benign	0.00
R9412:Igf1r	UTSW	7	68,207,253 (GRCm38)	missense	probably damaging	1.00
R9525:Igf1r	UTSW	7	68,214,934 (GRCm38)	missense	probably damaging	1.00
R9727:Igf1r	UTSW	7	68,207,806 (GRCm38)	missense	probably damaging	1.00
R9730:Igf1r	UTSW	7	68,189,675 (GRCm38)	missense	probably damaging	1.00
R9779:Igf1r	UTSW	7	68,004,317 (GRCm38)	missense	probably damaging	1.00
RF025:Igf1r	UTSW	7	68,226,179 (GRCm38)	small insertion	probably benign
RF032:Igf1r	UTSW	7	68,226,179 (GRCm38)	small insertion	probably benign
RF034:Igf1r	UTSW	7	68,226,176 (GRCm38)	small insertion	probably benign
RF037:Igf1r	UTSW	7	68,226,176 (GRCm38)	small insertion	probably benign
RF039:Igf1r	UTSW	7	68,226,176 (GRCm38)	small insertion	probably benign
RF044:Igf1r	UTSW	7	68,226,179 (GRCm38)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	68,226,168 (GRCm38)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	68,226,182 (GRCm38)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	68,226,180 (GRCm38)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	68,226,174 (GRCm38)	small insertion	probably benign
Z1186:Igf1r	UTSW	7	68,226,169 (GRCm38)	small insertion	probably benign
Z1191:Igf1r	UTSW	7	68,226,170 (GRCm38)	small insertion	probably benign
Z1191:Igf1r	UTSW	7	68,226,169 (GRCm38)	small insertion	probably benign
Z1191:Igf1r	UTSW	7	68,226,173 (GRCm38)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTCACCGTCATCACTGAG -3'
(R):5'- AGCGATTTGTGGTCCAGCAG -3'

Sequencing Primer
(F):5'- ACCGTCATCACTGAGTACTTG -3'
(R):5'- TCCAGCAGCGGTAGTTGTACTC -3'

Posted On

2018-09-12