Mutagenetix > Incidental Mutation

Incidental Mutation 'R8829:Igf1r'

673678

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

068731-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8829 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67952827-68233668 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68226021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 1244 (F1244I)

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: F1244I

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

SMART Domains

Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: F1244I

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	T	3: 60,031,819 (GRCm38)	I5F	probably benign	Het
Abca13	A	T	11: 9,621,881 (GRCm38)	D4814V	probably damaging	Het
Adgrl1	A	G	8: 83,938,829 (GRCm38)	N1382D		Het
Adh6b	T	C	3: 138,349,702 (GRCm38)	V71A	probably benign	Het
Aox4	A	T	1: 58,255,490 (GRCm38)	M953L	probably benign	Het
B3galt9	T	A	2: 34,838,622 (GRCm38)	N144K	probably benign	Het
Bach2	A	T	4: 32,562,028 (GRCm38)	E165V	probably damaging	Het
Bltp2	A	G	11: 78,267,238 (GRCm38)	K409E	probably benign	Het
Catsperg2	A	G	7: 29,697,844 (GRCm38)	V1078A	probably benign	Het
Ccno	A	G	13: 112,989,705 (GRCm38)	N236S	probably benign	Het
Ccpg1	A	T	9: 73,010,351 (GRCm38)	D255V	probably benign	Het
Cdhr2	A	T	13: 54,718,117 (GRCm38)	Y278F	probably damaging	Het
Cdk17	C	T	10: 93,207,058 (GRCm38)		probably benign	Het
Celsr3	A	G	9: 108,840,383 (GRCm38)	D2216G	probably benign	Het
Cenpu	T	C	8: 46,573,461 (GRCm38)	L294P	probably damaging	Het
Chct1	A	G	11: 85,171,211 (GRCm38)	D12G	probably damaging	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803 (GRCm38)		probably benign	Het
Ctnna2	G	A	6: 77,605,222 (GRCm38)	R352*	probably null	Het
D630003M21Rik	C	A	2: 158,216,936 (GRCm38)	C348F	probably damaging	Het
Dcdc2a	C	T	13: 25,110,068 (GRCm38)	Q236*	probably null	Het
Ddx60	T	G	8: 61,940,661 (GRCm38)	S44A	probably damaging	Het
Dennd2c	T	A	3: 103,152,404 (GRCm38)		probably null	Het
Drd5	G	A	5: 38,319,735 (GRCm38)	V24M	probably benign	Het
Dthd1	T	C	5: 62,814,265 (GRCm38)	S144P	probably benign	Het
Fcna	C	A	2: 25,626,133 (GRCm38)	R124L	possibly damaging	Het
Frem1	T	C	4: 83,000,194 (GRCm38)	R504G	probably damaging	Het
Gldc	C	G	19: 30,100,812 (GRCm38)	M928I	probably benign	Het
Gprc6a	A	C	10: 51,615,199 (GRCm38)	I818R	probably damaging	Het
Hcfc2	T	C	10: 82,738,345 (GRCm38)	Y118H	probably damaging	Het
Hmmr	G	A	11: 40,721,672 (GRCm38)	S206F	probably damaging	Het
Htr1d	A	T	4: 136,443,243 (GRCm38)	H261L	probably benign	Het
Hycc2	A	T	1: 58,548,673 (GRCm38)	I127N	possibly damaging	Het
Ighv1-63	A	G	12: 115,495,914 (GRCm38)	V21A	probably benign	Het
Kit	A	G	5: 75,639,131 (GRCm38)	N508D	probably benign	Het
Klk1b22	A	T	7: 44,114,853 (GRCm38)	E68D	probably benign	Het
Knstrn	C	T	2: 118,823,741 (GRCm38)	Q211*	probably null	Het
Krtap2-4	A	T	11: 99,614,420 (GRCm38)	C122S	unknown	Het
Map3k1	T	G	13: 111,752,481 (GRCm38)	H1314P	possibly damaging	Het
Mgat4c	A	T	10: 102,378,223 (GRCm38)	K22N	probably damaging	Het
Mpo	T	A	11: 87,803,424 (GRCm38)	F660Y	probably damaging	Het
Myb	A	T	10: 21,145,231 (GRCm38)	L433H	probably damaging	Het
Myo1c	G	A	11: 75,670,246 (GRCm38)	V793I	probably benign	Het
Nckap1l	T	A	15: 103,478,815 (GRCm38)	S706T	probably benign	Het
Ncoa3	A	G	2: 166,050,148 (GRCm38)	Y148C	probably damaging	Het
Nktr	T	A	9: 121,754,264 (GRCm38)	S1432T	unknown	Het
Odf2l	C	T	3: 145,128,059 (GRCm38)	S160L	probably benign	Het
Or10j7	C	T	1: 173,183,891 (GRCm38)	R181H	probably benign	Het
Or56b34	T	C	7: 105,288,228 (GRCm38)	L45P	possibly damaging	Het
Or6x1	T	A	9: 40,187,913 (GRCm38)	F266Y	probably benign	Het
Or8d23	G	T	9: 38,930,894 (GRCm38)	C241F	probably damaging	Het
Pclo	T	C	5: 14,788,450 (GRCm38)	W1424R		Het
Pcx	A	G	19: 4,601,940 (GRCm38)	D72G	probably damaging	Het
Pebp4	A	G	14: 70,048,467 (GRCm38)	D193G	probably benign	Het
Pi4kb	C	T	3: 94,993,033 (GRCm38)	T326M	probably damaging	Het
Piezo1	A	C	8: 122,491,014 (GRCm38)	M1265R		Het
Pip4k2c	A	T	10: 127,201,168 (GRCm38)	H177Q	probably damaging	Het
Pramel48	G	T	5: 95,483,080 (GRCm38)	C272F	possibly damaging	Het
Prpf40a	T	C	2: 53,157,915 (GRCm38)	M197V	probably benign	Het
Ptger3	A	G	3: 157,567,786 (GRCm38)	T257A	probably damaging	Het
Relt	T	A	7: 100,850,272 (GRCm38)	S147C	probably damaging	Het
Scap	A	G	9: 110,380,203 (GRCm38)	Y648C	probably damaging	Het
Scn9a	T	A	2: 66,483,617 (GRCm38)	D1919V	probably benign	Het
Septin8	G	A	11: 53,532,038 (GRCm38)	V25I	probably damaging	Het
Serpinb2	A	G	1: 107,515,527 (GRCm38)	I19V	probably benign	Het
Slc16a6	A	G	11: 109,455,106 (GRCm38)	Y444H	probably benign	Het
Syne1	T	C	10: 5,108,685 (GRCm38)	E7276G	probably benign	Het
Syt1	C	A	10: 108,642,332 (GRCm38)	C77F	probably benign	Het
Tcf20	T	A	15: 82,855,714 (GRCm38)	K512M	probably damaging	Het
Tomm7	T	C	5: 23,844,049 (GRCm38)	K9E	possibly damaging	Het
Trank1	T	C	9: 111,347,523 (GRCm38)	S288P	probably benign	Het
Trem3	T	C	17: 48,249,837 (GRCm38)	V112A	probably benign	Het
Ttbk1	C	A	17: 46,446,895 (GRCm38)	G938W	probably damaging	Het
Vmn1r178	G	A	7: 23,893,839 (GRCm38)	C104Y	probably damaging	Het
Zpr1	T	A	9: 46,281,046 (GRCm38)	Y418*	probably null	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
R6848:Igf1r	UTSW	7	68,004,179 (GRCm38)	missense	probably damaging	1.00
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
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'- TGAACCAAGACTTGAAGTGAGTC -3'
(R):5'- AGTGTCTTTCAGGCAGAGGC -3'

Sequencing Primer
(F):5'- AAGTGAGTCTGGGCTTGGCAC -3'
(R):5'- GGGACGCTCTCCATGTTCTCAG -3'

Posted On

2021-07-15