Mutagenetix > Incidental Mutation

Incidental Mutation 'R5761:Igf1r'

501396

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

043363-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67602575-67883416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67857001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 988 (Y988N)

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: Y988N

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

SMART Domains

Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: Y988N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208871

Meta Mutation Damage Score

0.8221

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,100,927 (GRCm39)	V953D	probably damaging	Het
Abcb8	T	C	5: 24,610,879 (GRCm39)		probably benign	Het
Acad12	A	T	5: 121,742,243 (GRCm39)		probably benign	Het
Adam2	A	T	14: 66,283,595 (GRCm39)	C436S	probably damaging	Het
Aebp2	T	C	6: 140,569,943 (GRCm39)		probably benign	Het
Akap8	A	T	17: 32,536,159 (GRCm39)	C85S	possibly damaging	Het
Aldh1a3	C	A	7: 66,068,927 (GRCm39)	R19L	probably damaging	Het
Baz2a	A	G	10: 127,955,559 (GRCm39)	T848A	possibly damaging	Het
Bud13	C	T	9: 46,199,350 (GRCm39)	A237V	probably benign	Het
Cbarp	CGCCTCTGCTGCCTCT	CGCCTCT	10: 79,968,067 (GRCm39)		probably benign	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Ccz1	C	T	5: 143,929,328 (GRCm39)	G367R	probably damaging	Het
Cep104	T	C	4: 154,065,681 (GRCm39)	V56A	possibly damaging	Het
Chd6	C	A	2: 160,798,998 (GRCm39)	R2362S	probably damaging	Het
Chd6	C	T	2: 160,798,999 (GRCm39)	R2362K	probably damaging	Het
Cmc1	T	C	9: 117,944,443 (GRCm39)	E25G	probably benign	Het
Cntnap5b	T	C	1: 100,374,619 (GRCm39)	S1123P	probably damaging	Het
Col4a3	T	A	1: 82,693,778 (GRCm39)	L66*	probably null	Het
Crmp1	A	G	5: 37,440,212 (GRCm39)	T329A	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp3a16	A	G	5: 145,378,843 (GRCm39)	S393P	possibly damaging	Het
Cyp4f18	T	A	8: 72,749,975 (GRCm39)	I225F	probably damaging	Het
Ddhd2	A	G	8: 26,231,726 (GRCm39)	V432A	probably benign	Het
Ecpas	T	C	4: 58,853,131 (GRCm39)	I401M	probably damaging	Het
Foxq1	G	A	13: 31,743,314 (GRCm39)	A139T	probably damaging	Het
Gm10428	G	T	11: 62,644,169 (GRCm39)		probably benign	Het
Gpr89	A	G	3: 96,800,196 (GRCm39)	L134P	probably damaging	Het
Hjv	T	C	3: 96,435,938 (GRCm39)	S399P	probably benign	Het
Hrc	A	T	7: 44,986,025 (GRCm39)		probably null	Het
Igf2r	A	C	17: 12,917,239 (GRCm39)		probably null	Het
Itga2b	A	G	11: 102,357,100 (GRCm39)	F260S	probably benign	Het
Kif2a	T	A	13: 107,098,672 (GRCm39)	N698I	probably benign	Het
Lap3	A	C	5: 45,662,147 (GRCm39)	I316L	probably benign	Het
Map2k6	T	G	11: 110,290,197 (GRCm39)		probably benign	Het
Mtrex	T	A	13: 113,054,196 (GRCm39)	I146F	probably damaging	Het
Myh1	A	G	11: 67,110,078 (GRCm39)	E1422G	probably damaging	Het
Ncoa6	A	G	2: 155,250,061 (GRCm39)	V1081A	probably benign	Het
Nom1	A	G	5: 29,642,639 (GRCm39)	E380G	probably damaging	Het
Nwd2	A	T	5: 63,882,573 (GRCm39)	Y75F	probably damaging	Het
Or3a1b	T	A	11: 74,012,335 (GRCm39)	D73E	probably damaging	Het
Or51a24	G	A	7: 103,733,376 (GRCm39)	R304W	probably benign	Het
Pkd1l1	A	G	11: 8,866,301 (GRCm39)	V518A	probably damaging	Het
Ptgs2	A	G	1: 149,981,279 (GRCm39)	M521V	probably benign	Het
Qsox1	T	A	1: 155,655,274 (GRCm39)	M630L	probably benign	Het
Spty2d1	A	G	7: 46,648,032 (GRCm39)	L299P	probably damaging	Het
St6gal1	T	G	16: 23,139,805 (GRCm39)		probably benign	Het
Sult2a6	T	C	7: 13,984,283 (GRCm39)	Y149C	probably damaging	Het
Tlr3	G	A	8: 45,855,808 (GRCm39)	T124M	probably benign	Het
Tmem171	A	G	13: 98,829,019 (GRCm39)	Y44H	probably damaging	Het
Usp35	C	T	7: 96,961,558 (GRCm39)	V623I	probably benign	Het
Vangl2	T	A	1: 171,833,694 (GRCm39)	H463L	probably damaging	Het
Vmn1r175	A	C	7: 23,507,905 (GRCm39)	L241V	probably benign	Het
Vmn1r19	A	T	6: 57,382,338 (GRCm39)	K297I	unknown	Het
Vmn2r23	C	A	6: 123,689,718 (GRCm39)	T198K	probably benign	Het
Vmn2r-ps69	T	A	7: 84,953,223 (GRCm39)		noncoding transcript	Het
Xirp2	A	G	2: 67,341,311 (GRCm39)	Y1184C	probably benign	Het
Ythdc1	A	G	5: 86,983,810 (GRCm39)		probably benign	Het
Zbtb39	C	T	10: 127,578,515 (GRCm39)	A363V	probably damaging	Het
Zmiz1	T	A	14: 25,651,728 (GRCm39)	I527K	possibly damaging	Het
Zmiz1	C	A	14: 25,651,730 (GRCm39)	P534T	probably 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
R2179:Igf1r	UTSW	7	67,653,698 (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
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'- AAAGGAACCACTGTTGTTTGG -3'
(R):5'- AGGCCTCGTTGAGAAACTCG -3'

Sequencing Primer
(F):5'- AACCACTGTTGTTTGGTTTGATTTG -3'
(R):5'- GAGAAACTCGATTCTTTCACGC -3'

Posted On

2017-12-01