Mutagenetix > Incidental Mutation

Incidental Mutation 'R5305:Areg'

404491

Institutional Source

Beutler Lab

Gene Symbol

Areg

Ensembl Gene

ENSMUSG00000029378

Gene Name

amphiregulin

Synonyms

Mcub, Sdgf, AR

MMRRC Submission

042888-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91287458-91296291 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91292308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 203 (A203S)

Ref Sequence

ENSEMBL: ENSMUSP00000031325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031325]

AlphaFold

P31955

Predicted Effect

probably damaging
Transcript: ENSMUST00000031325
AA Change: A203S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031325
Gene: ENSMUSG00000029378
AA Change: A203S

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
EGF	138	175	7.41e0	SMART
transmembrane domain	193	215	N/A	INTRINSIC
low complexity region	222	240	N/A	INTRINSIC

Meta Mutation Damage Score

0.2133

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: This gene encodes a member of the epidermal growth factor (EGF) family and preproprotein that is proteolytically processed to generate a mature protein product. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and has been shown to play a role in immunity, inflammation, tissue repair, and lung and mammary gland development. Homozygous knockout mice for this gene exhibit impaired immune system regulation in the skin and gene expression changes characteristic of chronic liver damage. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired development of mammary gland ducts in pubescent females. Mutant ducts show retarded elongation with few terminal end buds. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 81,943,420 (GRCm39)	V11M	possibly damaging	Het
Acot8	A	G	2: 164,637,685 (GRCm39)	V179A	probably benign	Het
Actb	A	G	5: 142,889,985 (GRCm39)	I194T	probably benign	Het
Ap1g2	A	G	14: 55,336,533 (GRCm39)	V787A	probably benign	Het
Asb13	A	T	13: 3,693,479 (GRCm39)	D79V	probably damaging	Het
Atad2b	C	T	12: 5,015,855 (GRCm39)	T527I	probably damaging	Het
Auts2	T	G	5: 131,472,632 (GRCm39)		probably benign	Het
Ceacam3	T	A	7: 16,885,501 (GRCm39)	S35T	probably damaging	Het
Crebzf	T	C	7: 90,093,342 (GRCm39)		probably benign	Het
Cttnbp2	G	T	6: 18,381,097 (GRCm39)	N1366K	probably benign	Het
Cubn	C	A	2: 13,393,750 (GRCm39)	C1417F	probably damaging	Het
Dot1l	C	T	10: 80,626,627 (GRCm39)	P162S	probably benign	Het
Epc1	G	A	18: 6,490,690 (GRCm39)		probably benign	Het
Eps8l1	A	G	7: 4,480,895 (GRCm39)	S613G	possibly damaging	Het
Erich6	T	G	3: 58,532,537 (GRCm39)	I357L	probably benign	Het
Foxj3	T	A	4: 119,477,155 (GRCm39)	S288T	possibly damaging	Het
Gls2	T	G	10: 128,040,578 (GRCm39)	Y326*	probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm7535	T	C	17: 18,132,061 (GRCm39)		probably benign	Het
Gxylt2	T	G	6: 100,764,179 (GRCm39)	L288R	probably damaging	Het
Kdm4a	T	C	4: 118,017,698 (GRCm39)	Y456C	probably damaging	Het
Mgat4c	T	A	10: 102,225,140 (GRCm39)	F451L	possibly damaging	Het
Mrpl20	G	A	4: 155,888,162 (GRCm39)	R17H	probably damaging	Het
Mtf2	A	G	5: 108,252,365 (GRCm39)	T465A	possibly damaging	Het
Mycbp2	A	C	14: 103,583,757 (GRCm39)	L66R	probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nr2e1	A	T	10: 42,447,483 (GRCm39)	Y176*	probably null	Het
Obscn	T	C	11: 58,903,541 (GRCm39)	T7628A	possibly damaging	Het
Or7a37	A	T	10: 78,806,390 (GRCm39)	K302N	possibly damaging	Het
Pitx2	T	G	3: 129,009,489 (GRCm39)	V129G	probably damaging	Het
Polr2e	A	G	10: 79,873,897 (GRCm39)		probably benign	Het
Ppard	A	G	17: 28,517,832 (GRCm39)	D300G	probably damaging	Het
Ppp1r27	A	G	11: 120,441,743 (GRCm39)	V46A	probably benign	Het
Prex2	T	A	1: 11,177,902 (GRCm39)	V332E	probably damaging	Het
Prss30	T	G	17: 24,191,750 (GRCm39)	Y257S	probably benign	Het
Ptprd	T	C	4: 75,900,863 (GRCm39)	E1082G	probably damaging	Het
Rab3c	T	A	13: 110,317,611 (GRCm39)	R89S	probably damaging	Het
Rimbp2	A	G	5: 128,874,445 (GRCm39)	V389A	possibly damaging	Het
Rims1	T	A	1: 22,635,623 (GRCm39)	R119S	probably damaging	Het
Sema3b	T	C	9: 107,480,536 (GRCm39)	H137R	probably null	Het
Sf3b4	G	C	3: 96,080,958 (GRCm39)	A89P	probably damaging	Het
Sgta	T	A	10: 80,882,081 (GRCm39)	Q298L	probably damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sry	T	A	Y: 2,662,982 (GRCm39)	D226V	unknown	Het
Sv2a	A	G	3: 96,092,774 (GRCm39)	E158G	possibly damaging	Het
Sytl2	A	G	7: 90,031,071 (GRCm39)		probably benign	Het
Thbs3	T	A	3: 89,125,283 (GRCm39)		probably benign	Het
Top3a	A	T	11: 60,653,365 (GRCm39)	N56K	possibly damaging	Het
Tyk2	T	C	9: 21,020,677 (GRCm39)	D918G	probably damaging	Het
Uqcrh	A	G	4: 115,924,481 (GRCm39)		probably benign	Het
Vmn1r61	A	G	7: 5,613,814 (GRCm39)	S167P	probably damaging	Het
Wdr25	C	A	12: 108,992,366 (GRCm39)	H74N	probably damaging	Het
Zfp458	T	C	13: 67,404,382 (GRCm39)	N686D	probably benign	Het
Zfp574	T	A	7: 24,780,515 (GRCm39)	H512Q		Het
Zfp976	A	T	7: 42,262,902 (GRCm39)	Y312N	probably benign	Het
Zscan4c	G	A	7: 10,743,462 (GRCm39)	V354I	probably benign	Het

Other mutations in Areg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Areg	APN	5	91,288,954 (GRCm39)	missense	probably damaging	0.99
IGL01929:Areg	APN	5	91,292,312 (GRCm39)	missense	probably benign
IGL01971:Areg	APN	5	91,288,870 (GRCm39)	missense	probably benign	0.03
IGL02250:Areg	APN	5	91,288,967 (GRCm39)	missense	possibly damaging	0.83
R1436:Areg	UTSW	5	91,287,664 (GRCm39)	start gained	probably benign
R1674:Areg	UTSW	5	91,291,485 (GRCm39)	missense	probably damaging	0.96
R1699:Areg	UTSW	5	91,291,357 (GRCm39)	missense	probably damaging	1.00
R4239:Areg	UTSW	5	91,291,375 (GRCm39)	missense	probably damaging	1.00
R4240:Areg	UTSW	5	91,291,375 (GRCm39)	missense	probably damaging	1.00
R4613:Areg	UTSW	5	91,291,363 (GRCm39)	missense	probably benign	0.34
R4738:Areg	UTSW	5	91,294,583 (GRCm39)	missense	possibly damaging	0.91
R5040:Areg	UTSW	5	91,292,198 (GRCm39)	missense	possibly damaging	0.94
R5987:Areg	UTSW	5	91,294,577 (GRCm39)	missense	possibly damaging	0.83
R6075:Areg	UTSW	5	91,291,456 (GRCm39)	missense	probably damaging	0.99
R7210:Areg	UTSW	5	91,288,764 (GRCm39)	nonsense	probably null
R8165:Areg	UTSW	5	91,291,492 (GRCm39)	missense	probably damaging	0.97
R9054:Areg	UTSW	5	91,292,217 (GRCm39)	missense	probably damaging	1.00
R9498:Areg	UTSW	5	91,294,553 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGGCGTGACCTCTCTATGTTC -3'
(R):5'- GTCAAAGGAATGCAAGGTTTGATTC -3'

Sequencing Primer
(F):5'- AGTGACCGTATCATTAGGTAGTATG -3'
(R):5'- GATTCTATTCTGCTCAGGGGTCAC -3'

Posted On

2016-07-22