Mutagenetix > Incidental Mutation

Incidental Mutation 'R5431:Rnase2a'

428067

Institutional Source

Beutler Lab

Gene Symbol

Rnase2a

Ensembl Gene

ENSMUSG00000047222

Gene Name

ribonuclease, RNase A family, 2A (liver, eosinophil-derived neurotoxin)

Synonyms

Ear11

MMRRC Submission

042847-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5431 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51255262-51256112 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51255563 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 115 (Y115C)

Ref Sequence

ENSEMBL: ENSMUSP00000056418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061936]

AlphaFold

Q8K196

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061936
AA Change: Y115C

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000056418
Gene: ENSMUSG00000047222
AA Change: Y115C

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
RNAse_Pc	27	155	1.79e-53	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,707,538 (GRCm38)	S124G	possibly damaging	Het
4921539E11Rik	T	C	4: 103,270,848 (GRCm38)	T27A	probably benign	Het
Aspg	T	A	12: 112,123,412 (GRCm38)	N461K	probably benign	Het
B4galnt3	T	A	6: 120,218,967 (GRCm38)	T300S	probably damaging	Het
BC035044	A	G	6: 128,885,007 (GRCm38)		probably benign	Het
Bmp5	C	T	9: 75,893,709 (GRCm38)	P374S	probably damaging	Het
C330018D20Rik	A	T	18: 56,957,856 (GRCm38)	F78L	probably benign	Het
Cds2	T	A	2: 132,302,170 (GRCm38)	S289T	probably benign	Het
Cerkl	C	T	2: 79,341,335 (GRCm38)	C393Y	probably damaging	Het
Ciita	C	T	16: 10,523,792 (GRCm38)	R1020C	probably damaging	Het
Dcaf13	C	A	15: 39,123,224 (GRCm38)	D130E	probably benign	Het
Dnal4	C	T	15: 79,762,447 (GRCm38)	G50R	probably damaging	Het
Elfn1	A	G	5: 139,971,568 (GRCm38)	N109S	probably damaging	Het
Ep400	A	G	5: 110,676,554 (GRCm38)	V2435A	unknown	Het
Fam178b	T	C	1: 36,632,485 (GRCm38)	E185G	probably damaging	Het
Fam227b	C	A	2: 126,126,931 (GRCm38)	L74F	probably benign	Het
Fam92b	C	A	8: 120,167,303 (GRCm38)		probably null	Het
Fgfr4	G	A	13: 55,156,651 (GRCm38)	V138I	probably benign	Het
Flnc	A	G	6: 29,456,384 (GRCm38)	I2161V	possibly damaging	Het
Frmd5	T	C	2: 121,562,909 (GRCm38)	N235S	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147 (GRCm38)		noncoding transcript	Het
Ggt6	A	G	11: 72,437,738 (GRCm38)	T355A	possibly damaging	Het
Gm14393	G	A	2: 175,063,876 (GRCm38)	T41I	probably damaging	Het
Gpr151	A	C	18: 42,578,867 (GRCm38)	S249A	probably damaging	Het
Gpr152	T	A	19: 4,143,747 (GRCm38)	V429D	probably benign	Het
Grm7	G	A	6: 111,358,426 (GRCm38)	M599I	probably benign	Het
Hdac4	T	A	1: 91,972,790 (GRCm38)	R54*	probably null	Het
Ice1	A	G	13: 70,592,650 (GRCm38)	L2146S	probably damaging	Het
Igfbpl1	C	T	4: 45,815,588 (GRCm38)	V183I	probably benign	Het
Kel	G	A	6: 41,698,420 (GRCm38)	S299F	probably benign	Het
Kif14	T	C	1: 136,496,695 (GRCm38)	I1016T	possibly damaging	Het
Lhx3	T	C	2: 26,201,118 (GRCm38)	D395G	probably damaging	Het
Micu1	T	C	10: 59,750,521 (GRCm38)	Y140H	possibly damaging	Het
Myt1l	G	A	12: 29,832,332 (GRCm38)	G509R	unknown	Het
Nbn	C	T	4: 15,986,593 (GRCm38)	H665Y	probably benign	Het
Pkhd1	G	T	1: 20,117,836 (GRCm38)	T3416K	probably benign	Het
Plxnb1	T	C	9: 109,100,772 (GRCm38)	F232S	probably damaging	Het
Pus7l	T	C	15: 94,529,486 (GRCm38)	N472D	probably damaging	Het
Rfx1	C	T	8: 84,082,720 (GRCm38)	Q225*	probably null	Het
Ryr1	T	A	7: 29,109,812 (GRCm38)	D386V	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384 (GRCm38)		probably benign	Homo
Sgcz	T	A	8: 37,639,984 (GRCm38)	T125S	probably damaging	Het
Sntb1	C	G	15: 55,642,795 (GRCm38)	G461R	probably damaging	Het
Syt2	A	G	1: 134,740,957 (GRCm38)	S36G	probably benign	Het
Tcaf3	A	G	6: 42,597,185 (GRCm38)	L31P	probably damaging	Het
Tenm3	C	A	8: 48,367,377 (GRCm38)	E142*	probably null	Het
Tgfbr2	G	T	9: 116,131,601 (GRCm38)	S94R	probably damaging	Het
Vmn2r12	A	G	5: 109,091,818 (GRCm38)	I293T	probably damaging	Het
Wrap73	G	A	4: 154,145,274 (GRCm38)	R34Q	probably damaging	Het
Zc3h14	A	G	12: 98,780,065 (GRCm38)	D511G	possibly damaging	Het
Zcchc11	T	A	4: 108,491,412 (GRCm38)	I297N	probably damaging	Het

Other mutations in Rnase2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03390:Rnase2a	APN	14	51,255,488 (GRCm38)	missense	probably damaging	0.97
R2024:Rnase2a	UTSW	14	51,255,788 (GRCm38)	missense	probably damaging	0.99
R4487:Rnase2a	UTSW	14	51,255,845 (GRCm38)	missense	unknown
R4774:Rnase2a	UTSW	14	51,255,744 (GRCm38)	missense	probably damaging	1.00
R6210:Rnase2a	UTSW	14	51,255,674 (GRCm38)	missense	possibly damaging	0.94
R7104:Rnase2a	UTSW	14	51,255,531 (GRCm38)	missense	probably benign
R7699:Rnase2a	UTSW	14	51,255,791 (GRCm38)	missense	probably damaging	1.00
R7700:Rnase2a	UTSW	14	51,255,791 (GRCm38)	missense	probably damaging	1.00
R8295:Rnase2a	UTSW	14	51,255,639 (GRCm38)	missense	probably benign	0.36
R8869:Rnase2a	UTSW	14	51,255,644 (GRCm38)	missense	possibly damaging	0.93
R9640:Rnase2a	UTSW	14	51,255,660 (GRCm38)	missense	probably damaging	0.99
X0023:Rnase2a	UTSW	14	51,255,704 (GRCm38)	missense	probably damaging	1.00
Z1176:Rnase2a	UTSW	14	51,255,829 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGTGCAAACAGAGGACTC -3'
(R):5'- CGGGCCGTTAACAGTTACAC -3'

Sequencing Primer
(F):5'- CCAACTATGATCTTGGCAGTAGC -3'
(R):5'- GCCGTTAACAGTTACACAGGAG -3'

Posted On

2016-09-01