Mutagenetix > Incidental Mutation

Incidental Mutation 'R6902:Igf1r'

538592

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

045032-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6902 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67952827-68233668 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68004163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 150 (C150S)

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: C150S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: C150S

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

0.9703

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

98% (50/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	G	13: 119,488,144 (GRCm38)		probably benign	Het
9530053A07Rik	C	T	7: 28,137,213 (GRCm38)	R186C	probably damaging	Het
Abcc9	T	A	6: 142,679,227 (GRCm38)	S481C	probably damaging	Het
Adgrl3	C	A	5: 81,689,587 (GRCm38)	S773R	probably damaging	Het
Alkbh5	G	A	11: 60,538,555 (GRCm38)	A45T	probably benign	Het
Ankrd6	C	A	4: 32,806,419 (GRCm38)	Q576H	probably damaging	Het
Ankrd6	T	A	4: 32,806,420 (GRCm38)	Q576L	probably damaging	Het
Carmil1	T	C	13: 24,115,545 (GRCm38)	N332S	possibly damaging	Het
Cc2d2b	A	G	19: 40,816,289 (GRCm38)	Q1250R	possibly damaging	Het
Chd9	A	C	8: 91,042,951 (GRCm38)	N2539T	probably damaging	Het
Clec4b2	C	T	6: 123,201,028 (GRCm38)	Q101*	probably null	Het
Clstn2	A	T	9: 97,469,822 (GRCm38)	F517I	probably damaging	Het
Cog2	A	G	8: 124,546,691 (GRCm38)	K590E	probably damaging	Het
Coq9	G	A	8: 94,850,552 (GRCm38)	E182K	probably benign	Het
Focad	C	T	4: 88,230,476 (GRCm38)	R477C	unknown	Het
Gja10	G	T	4: 32,601,905 (GRCm38)	H160N	probably damaging	Het
Gm1673	G	A	5: 33,983,579 (GRCm38)		probably benign	Het
Gpr132	T	A	12: 112,852,210 (GRCm38)	Y332F	probably benign	Het
Herc2	A	G	7: 56,135,486 (GRCm38)	T1495A	probably benign	Het
Hivep3	T	A	4: 120,095,995 (GRCm38)	S503T	possibly damaging	Het
Ifi44	A	T	3: 151,745,899 (GRCm38)	I190N	possibly damaging	Het
Ighv1-42	T	A	12: 114,937,535 (GRCm38)	N4Y	possibly damaging	Het
Klra9	T	A	6: 130,179,040 (GRCm38)	I251F	probably benign	Het
Krt79	T	C	15: 101,931,879 (GRCm38)	N294S	probably benign	Het
Lama2	T	G	10: 26,981,629 (GRCm38)	T3075P	probably damaging	Het
Lrfn1	T	G	7: 28,459,813 (GRCm38)	C386G	probably benign	Het
Lrp2	T	C	2: 69,459,503 (GRCm38)	D3664G	probably damaging	Het
Mfsd3	T	A	15: 76,703,149 (GRCm38)	M344K	probably damaging	Het
Mier2	C	A	10: 79,540,839 (GRCm38)		probably benign	Het
Mmp2	G	A	8: 92,836,917 (GRCm38)	V340M	probably damaging	Het
Mrgprb3	T	A	7: 48,643,699 (GRCm38)	I35F	probably benign	Het
Myo5b	A	T	18: 74,676,685 (GRCm38)	I613F	possibly damaging	Het
Olfr299	T	A	7: 86,465,787 (GRCm38)	C125*	probably null	Het
Olfr585	A	T	7: 103,098,355 (GRCm38)	I205F	probably benign	Het
Olfr867	A	T	9: 20,055,374 (GRCm38)	L30M	possibly damaging	Het
Olfr948	C	A	9: 39,319,019 (GRCm38)	L198F	probably damaging	Het
Pan2	A	G	10: 128,315,637 (GRCm38)	T867A	probably benign	Het
Papolb	T	A	5: 142,528,151 (GRCm38)	H579L	probably benign	Het
Pcf11	C	A	7: 92,658,299 (GRCm38)	G887V	probably damaging	Het
Pdzd8	A	G	19: 59,301,397 (GRCm38)	S524P	possibly damaging	Het
Pole3	T	C	4: 62,524,063 (GRCm38)		probably benign	Het
Prdm14	C	T	1: 13,122,421 (GRCm38)	V365I	probably benign	Het
Shank1	T	A	7: 44,356,815 (GRCm38)	F1985L	probably benign	Het
Slc13a1	T	C	6: 24,097,666 (GRCm38)	I421V	possibly damaging	Het
Slc2a6	C	T	2: 27,023,160 (GRCm38)	V374M	probably benign	Het
Spata1	A	T	3: 146,475,323 (GRCm38)	N293K	possibly damaging	Het
Stk40	T	A	4: 126,137,812 (GRCm38)	D366E	probably benign	Het
Tas2r117	T	C	6: 132,803,325 (GRCm38)	L142S	probably damaging	Het
Tcrg-V1	T	C	13: 19,340,020 (GRCm38)	L2P	probably benign	Het
Tomm70a	T	C	16: 57,138,081 (GRCm38)	S266P	probably damaging	Het
Vipr2	A	T	12: 116,139,199 (GRCm38)	T310S	possibly damaging	Het
Vti1a	A	T	19: 55,499,241 (GRCm38)		probably null	Het
Zfp961	A	G	8: 71,968,678 (GRCm38)	K345R	probably damaging	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
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'- AAGCTCACCGTCATCACTG -3'
(R):5'- AGCGATTTGTGGTCCAGCAG -3'

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

Posted On

2018-11-06