Mutagenetix > Incidental Mutation

Incidental Mutation 'R4444:Egfr'

329804

Institutional Source

Beutler Lab

Gene Symbol

Egfr

Ensembl Gene

ENSMUSG00000020122

Gene Name

epidermal growth factor receptor

Synonyms

9030024J15Rik, avian erythroblastic leukemia viral (v-erb-b) oncogene homolog, Wa5, Errb1, Erbb

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R4444 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16702203-16868158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16821027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 314 (D314G)

Ref Sequence

ENSEMBL: ENSMUSP00000099948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020329] [ENSMUST00000102884]

AlphaFold

Q01279

Predicted Effect

probably benign
Transcript: ENSMUST00000020329
AA Change: D314G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020329
Gene: ENSMUSG00000020122
AA Change: D314G

Domain	Start	End	E-Value	Type
low complexity region	5	25	N/A	INTRINSIC
Pfam:Recep_L_domain	57	168	1.4e-32	PFAM
low complexity region	182	195	N/A	INTRINSIC
FU	228	270	6.07e-4	SMART
Pfam:Recep_L_domain	361	481	1.8e-29	PFAM
FU	496	547	8.25e-6	SMART
FU	552	601	4.38e-10	SMART
FU	614	654	4.05e1	SMART
low complexity region	677	694	N/A	INTRINSIC
TyrKc	714	970	2.88e-129	SMART
low complexity region	1004	1017	N/A	INTRINSIC
low complexity region	1027	1048	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102884
AA Change: D314G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099948
Gene: ENSMUSG00000020122
AA Change: D314G

Domain	Start	End	E-Value	Type
low complexity region	5	25	N/A	INTRINSIC
Pfam:Recep_L_domain	57	168	5e-33	PFAM
low complexity region	182	195	N/A	INTRINSIC
FU	228	270	6.07e-4	SMART
Pfam:Recep_L_domain	361	481	2e-29	PFAM
FU	496	547	8.25e-6	SMART
FU	552	601	4.38e-10	SMART
FU	614	654	4.54e0	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	G	T	7: 45,785,618 (GRCm39)	T695N	probably benign	Het
Cdkl2	G	A	5: 92,168,168 (GRCm39)	T342I	probably benign	Het
Cntn5	C	A	9: 9,704,947 (GRCm39)	E822D	probably damaging	Het
Cysltr2	G	A	14: 73,267,333 (GRCm39)	H126Y	possibly damaging	Het
Dlg2	T	C	7: 91,737,801 (GRCm39)	S428P	probably damaging	Het
Ercc5	GAAAA	GAAAAA	1: 44,197,369 (GRCm39)		probably null	Het
Gemin4	A	G	11: 76,102,917 (GRCm39)	F615L	probably benign	Het
Ggn	A	G	7: 28,871,585 (GRCm39)	T322A	probably benign	Het
Hunk	C	T	16: 90,229,679 (GRCm39)	A180V	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Myo1b	A	T	1: 51,797,078 (GRCm39)	I988N	probably damaging	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Or2ag1b	T	A	7: 106,288,353 (GRCm39)	Y195F	possibly damaging	Het
Plb1	G	A	5: 32,487,909 (GRCm39)	V930I	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Retreg1	T	G	15: 25,968,530 (GRCm39)		probably null	Het
Rnf13	A	C	3: 57,728,010 (GRCm39)	K230T	probably damaging	Het
Rpl9-ps1	T	C	11: 83,536,207 (GRCm39)	I81V	possibly damaging	Het
Slco1c1	A	G	6: 141,492,417 (GRCm39)	T267A	possibly damaging	Het
Spc25	A	T	2: 69,035,220 (GRCm39)	M47K	probably benign	Het
Syne2	A	G	12: 76,069,804 (GRCm39)	E4377G	probably damaging	Het
Usp34	A	G	11: 23,385,998 (GRCm39)	T2142A	probably damaging	Het
Zc3h7a	A	G	16: 10,968,457 (GRCm39)		probably null	Het
Zfp169	T	A	13: 48,643,813 (GRCm39)	K438M	possibly damaging	Het

Other mutations in Egfr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Egfr	APN	11	16,813,020 (GRCm39)	missense	probably damaging	1.00
IGL01529:Egfr	APN	11	16,813,014 (GRCm39)	missense	probably benign
IGL01556:Egfr	APN	11	16,855,382 (GRCm39)	missense	probably damaging	1.00
IGL02627:Egfr	APN	11	16,819,346 (GRCm39)	missense	probably damaging	1.00
IGL02862:Egfr	APN	11	16,833,562 (GRCm39)	missense	probably benign	0.25
IGL02945:Egfr	APN	11	16,702,514 (GRCm39)	missense	probably damaging	1.00
IGL02994:Egfr	APN	11	16,861,811 (GRCm39)	missense	probably damaging	1.00
IGL03395:Egfr	APN	11	16,860,261 (GRCm39)	splice site	probably benign
set	UTSW	11	16,821,881 (GRCm39)	splice site	probably benign
Velvet	UTSW	11	16,854,399 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Egfr	UTSW	11	16,860,214 (GRCm39)	missense	probably benign	0.00
R0196:Egfr	UTSW	11	16,861,746 (GRCm39)	missense	probably benign	0.02
R0513:Egfr	UTSW	11	16,822,855 (GRCm39)	missense	probably damaging	1.00
R0567:Egfr	UTSW	11	16,822,873 (GRCm39)	missense	probably benign	0.01
R0629:Egfr	UTSW	11	16,819,333 (GRCm39)	missense	probably damaging	1.00
R0961:Egfr	UTSW	11	16,812,964 (GRCm39)	missense	probably damaging	1.00
R1163:Egfr	UTSW	11	16,833,546 (GRCm39)	missense	probably benign	0.02
R1454:Egfr	UTSW	11	16,839,920 (GRCm39)	missense	probably benign
R1456:Egfr	UTSW	11	16,813,065 (GRCm39)	missense	probably benign	0.00
R1503:Egfr	UTSW	11	16,819,301 (GRCm39)	missense	possibly damaging	0.86
R1577:Egfr	UTSW	11	16,819,241 (GRCm39)	missense	probably benign	0.04
R1595:Egfr	UTSW	11	16,856,847 (GRCm39)	missense	probably damaging	0.99
R1699:Egfr	UTSW	11	16,809,019 (GRCm39)	missense	probably benign	0.14
R2172:Egfr	UTSW	11	16,861,562 (GRCm39)	missense	probably benign	0.00
R3690:Egfr	UTSW	11	16,821,881 (GRCm39)	splice site	probably benign
R3922:Egfr	UTSW	11	16,831,495 (GRCm39)	missense	probably damaging	1.00
R4685:Egfr	UTSW	11	16,808,980 (GRCm39)	missense	probably damaging	1.00
R4737:Egfr	UTSW	11	16,819,231 (GRCm39)	missense	probably damaging	0.99
R4814:Egfr	UTSW	11	16,819,354 (GRCm39)	missense	probably damaging	1.00
R4841:Egfr	UTSW	11	16,861,607 (GRCm39)	missense	probably benign	0.05
R4842:Egfr	UTSW	11	16,861,607 (GRCm39)	missense	probably benign	0.05
R4903:Egfr	UTSW	11	16,858,949 (GRCm39)	missense	probably damaging	1.00
R4964:Egfr	UTSW	11	16,858,949 (GRCm39)	missense	probably damaging	1.00
R4985:Egfr	UTSW	11	16,809,029 (GRCm39)	nonsense	probably null
R4998:Egfr	UTSW	11	16,831,493 (GRCm39)	missense	possibly damaging	0.58
R5001:Egfr	UTSW	11	16,854,434 (GRCm39)	missense	probably damaging	0.98
R5304:Egfr	UTSW	11	16,834,260 (GRCm39)	missense	probably benign
R5309:Egfr	UTSW	11	16,861,703 (GRCm39)	missense	probably benign	0.00
R5653:Egfr	UTSW	11	16,861,617 (GRCm39)	missense	probably benign	0.04
R5905:Egfr	UTSW	11	16,861,494 (GRCm39)	missense	probably damaging	1.00
R6051:Egfr	UTSW	11	16,833,607 (GRCm39)	missense	possibly damaging	0.87
R6052:Egfr	UTSW	11	16,861,554 (GRCm39)	missense	probably benign	0.16
R6114:Egfr	UTSW	11	16,854,374 (GRCm39)	missense	possibly damaging	0.46
R6261:Egfr	UTSW	11	16,839,964 (GRCm39)	missense	probably benign	0.11
R6434:Egfr	UTSW	11	16,819,294 (GRCm39)	missense	probably benign	0.25
R6475:Egfr	UTSW	11	16,841,259 (GRCm39)	missense	probably benign
R6799:Egfr	UTSW	11	16,846,952 (GRCm39)	missense	probably damaging	1.00
R7143:Egfr	UTSW	11	16,821,627 (GRCm39)	missense	probably benign	0.20
R7195:Egfr	UTSW	11	16,818,162 (GRCm39)	missense	probably damaging	1.00
R7459:Egfr	UTSW	11	16,846,967 (GRCm39)	missense	probably damaging	1.00
R7612:Egfr	UTSW	11	16,809,025 (GRCm39)	missense	possibly damaging	0.74
R7757:Egfr	UTSW	11	16,839,966 (GRCm39)	missense	possibly damaging	0.64
R7763:Egfr	UTSW	11	16,841,266 (GRCm39)	missense	probably damaging	1.00
R8315:Egfr	UTSW	11	16,825,027 (GRCm39)	missense	probably benign	0.08
R8320:Egfr	UTSW	11	16,841,251 (GRCm39)	missense	probably damaging	1.00
R8324:Egfr	UTSW	11	16,858,885 (GRCm39)	missense	probably damaging	0.98
R8324:Egfr	UTSW	11	16,808,971 (GRCm39)	missense	probably damaging	0.99
R8347:Egfr	UTSW	11	16,828,174 (GRCm39)	missense	probably damaging	1.00
R8440:Egfr	UTSW	11	16,859,831 (GRCm39)	missense	probably damaging	1.00
R8511:Egfr	UTSW	11	16,846,949 (GRCm39)	missense	probably damaging	1.00
R8708:Egfr	UTSW	11	16,817,300 (GRCm39)	critical splice donor site	probably benign
R8804:Egfr	UTSW	11	16,819,339 (GRCm39)	missense	probably benign	0.09
R8853:Egfr	UTSW	11	16,858,885 (GRCm39)	missense	possibly damaging	0.93
R8906:Egfr	UTSW	11	16,861,635 (GRCm39)	missense	probably damaging	1.00
R9177:Egfr	UTSW	11	16,855,410 (GRCm39)	missense	probably damaging	1.00
R9268:Egfr	UTSW	11	16,855,410 (GRCm39)	missense	probably damaging	1.00
R9335:Egfr	UTSW	11	16,820,991 (GRCm39)	missense	probably damaging	1.00
R9417:Egfr	UTSW	11	16,825,067 (GRCm39)	nonsense	probably null
R9454:Egfr	UTSW	11	16,837,155 (GRCm39)	missense	probably damaging	1.00
Z1177:Egfr	UTSW	11	16,819,319 (GRCm39)	missense	probably damaging	1.00
Z1177:Egfr	UTSW	11	16,812,954 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGTCAGTCTTTCTCCTCAAAGAG -3'
(R):5'- CCTCCACCATGCAATTTGGC -3'

Sequencing Primer
(F):5'- GAAGTCAACCAAACTAAGAGGGACC -3'
(R):5'- GCAATTTGGCTTTGCAAGTTTACC -3'

Posted On

2015-07-21