Mutagenetix > Incidental Mutation

Incidental Mutation 'R8251:Ear2'

640255

Institutional Source

Beutler Lab

Gene Symbol

Ear2

Ensembl Gene

ENSMUSG00000072596

Gene Name

eosinophil-associated, ribonuclease A family, member 2

Synonyms

Rnase2, eosinophil-derived neurotoxin, liver

MMRRC Submission

067677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R8251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44340111-44340988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44340477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 45 (L45P)

Ref Sequence

ENSEMBL: ENSMUSP00000074386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074839]

AlphaFold

P97425

Predicted Effect

probably benign
Transcript: ENSMUST00000074839
AA Change: L45P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074386
Gene: ENSMUSG00000072596
AA Change: L45P

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
RNAse_Pc	27	156	1.09e-57	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	T	9: 103,968,906 (GRCm39)	D463V	possibly damaging	Het
Adamtsl4	C	T	3: 95,591,884 (GRCm39)	R68Q	probably damaging	Het
Ankrd12	A	T	17: 66,291,554 (GRCm39)	M1293K	possibly damaging	Het
Arhgap21	T	C	2: 20,854,221 (GRCm39)	T1724A	probably benign	Het
C1qtnf12	T	C	4: 156,050,916 (GRCm39)	I295T	probably damaging	Het
Cacna1s	G	T	1: 136,014,461 (GRCm39)	G623W	probably damaging	Het
Cemip2	T	C	19: 21,784,765 (GRCm39)	V416A	possibly damaging	Het
Cenpe	T	A	3: 134,957,445 (GRCm39)		probably null	Het
Cep85l	A	T	10: 53,157,450 (GRCm39)	I751N	probably damaging	Het
Corin	T	A	5: 72,514,269 (GRCm39)	D468V	probably damaging	Het
Ctsr	A	G	13: 61,310,592 (GRCm39)	V51A	probably damaging	Het
Dnah14	A	C	1: 181,492,430 (GRCm39)	E1630A	probably damaging	Het
Dsg4	C	A	18: 20,604,221 (GRCm39)	A896E	probably damaging	Het
Fshr	T	G	17: 89,507,913 (GRCm39)	D43A	probably benign	Het
Gata6	G	A	18: 11,054,670 (GRCm39)	G200S	probably benign	Het
Gnaq	T	A	19: 16,312,419 (GRCm39)	M227K	probably damaging	Het
Ifit1bl1	T	C	19: 34,572,232 (GRCm39)	Q75R	possibly damaging	Het
Impg2	A	G	16: 56,079,960 (GRCm39)	E479G	possibly damaging	Het
Ints7	C	T	1: 191,353,545 (GRCm39)	P957L	unknown	Het
Jmjd1c	T	C	10: 67,075,068 (GRCm39)	V73A	noncoding transcript	Het
Kansl1	A	G	11: 104,315,186 (GRCm39)	I284T	probably benign	Het
Kcnj9	A	G	1: 172,154,089 (GRCm39)	S12P	probably benign	Het
Krt16	A	G	11: 100,139,196 (GRCm39)		probably null	Het
Lrguk	A	T	6: 34,093,374 (GRCm39)	T632S	probably benign	Het
Man2b1	G	A	8: 85,821,758 (GRCm39)	V687M	probably damaging	Het
Mroh5	T	C	15: 73,655,002 (GRCm39)	E653G	probably benign	Het
Nabp1	A	T	1: 51,516,737 (GRCm39)	S44T	probably benign	Het
Nt5dc3	C	A	10: 86,656,091 (GRCm39)	H256Q	probably damaging	Het
Or1j15	A	C	2: 36,459,467 (GRCm39)	N286H	probably damaging	Het
Or4a81	A	T	2: 89,619,567 (GRCm39)	I43N	probably damaging	Het
Or5p50	A	G	7: 107,421,776 (GRCm39)	I300T	probably damaging	Het
Pkd2	T	C	5: 104,646,353 (GRCm39)	V720A	probably benign	Het
Pnpla6	T	A	8: 3,582,399 (GRCm39)	N706K	probably benign	Het
Polr1b	C	A	2: 128,965,086 (GRCm39)	P724Q	probably damaging	Het
Rbpjl	A	G	2: 164,255,854 (GRCm39)	E366G	probably damaging	Het
Runx1t1	A	G	4: 13,846,947 (GRCm39)	T244A	possibly damaging	Het
Slitrk3	C	T	3: 72,956,729 (GRCm39)	R681H	possibly damaging	Het
Slu7	A	G	11: 43,330,128 (GRCm39)	Y185C	probably damaging	Het
Snupn	T	A	9: 56,888,137 (GRCm39)	F231L	probably damaging	Het
Srpk2	G	A	5: 23,729,266 (GRCm39)	P458S	probably benign	Het
St3gal5	T	A	6: 72,126,144 (GRCm39)	F330I	probably benign	Het
Taf3	T	C	2: 9,922,962 (GRCm39)	D878G	possibly damaging	Het
Tex44	A	G	1: 86,354,936 (GRCm39)	N282D	probably benign	Het
Tmem126a	T	C	7: 90,100,094 (GRCm39)	I150V	probably benign	Het
Trbv21	A	G	6: 41,179,540 (GRCm39)		probably benign	Het
Vmn2r70	A	T	7: 85,215,186 (GRCm39)	L116*	probably null	Het
Vps36	A	G	8: 22,682,932 (GRCm39)	T16A	probably benign	Het
Wdr17	C	A	8: 55,110,267 (GRCm39)	G837W	probably damaging	Het
Zfp397	T	C	18: 24,093,361 (GRCm39)	V282A	probably benign	Het

Other mutations in Ear2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Ear2	APN	14	44,340,716 (GRCm39)	nonsense	probably null
IGL01729:Ear2	APN	14	44,340,701 (GRCm39)	nonsense	probably null
R0346:Ear2	UTSW	14	44,340,363 (GRCm39)	missense	probably damaging	1.00
R0458:Ear2	UTSW	14	44,340,705 (GRCm39)	missense	probably damaging	1.00
R1035:Ear2	UTSW	14	44,340,344 (GRCm39)	start codon destroyed	possibly damaging	0.59
R4920:Ear2	UTSW	14	44,340,582 (GRCm39)	missense	probably damaging	0.97
R5845:Ear2	UTSW	14	44,340,618 (GRCm39)	missense	probably benign	0.00
R6008:Ear2	UTSW	14	44,340,546 (GRCm39)	missense	probably damaging	1.00
R6432:Ear2	UTSW	14	44,340,660 (GRCm39)	missense	probably damaging	1.00
R6720:Ear2	UTSW	14	44,340,416 (GRCm39)	missense	probably damaging	0.99
R7721:Ear2	UTSW	14	44,340,495 (GRCm39)	missense	probably damaging	1.00
R8719:Ear2	UTSW	14	44,340,734 (GRCm39)	missense	possibly damaging	0.94
R9659:Ear2	UTSW	14	44,340,705 (GRCm39)	missense	probably damaging	1.00
R9776:Ear2	UTSW	14	44,340,729 (GRCm39)	missense	probably benign	0.02
R9788:Ear2	UTSW	14	44,340,705 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCTTCAGGAAGACATAGG -3'
(R):5'- CCGACTGGTGATGTTACAGAC -3'

Sequencing Primer
(F):5'- CCTTCAGGAAGACATAGGGAAAACTG -3'
(R):5'- GTTACAGACAGTTATACGTACCCGAG -3'

Posted On

2020-07-28