Mutagenetix > Incidental Mutation

Incidental Mutation 'R8869:Rnase2a'

676155

Institutional Source

Beutler Lab

Gene Symbol

Rnase2a

Ensembl Gene

ENSMUSG00000047222

Gene Name

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

Synonyms

Ear11

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R8869 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51492719-51493569 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51493101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 88 (N88I)

Ref Sequence

ENSEMBL: ENSMUSP00000056418 (fasta)

Gene Model

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

AlphaFold

Q8K196

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061936
AA Change: N88I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056418
Gene: ENSMUSG00000047222
AA Change: N88I

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	G	A	19: 55,266,523 (GRCm39)	R114Q	possibly damaging	Het
Atp1a4	C	T	1: 172,054,690 (GRCm39)	V980I	probably benign	Het
Bltp1	T	A	3: 37,013,007 (GRCm39)	C1895S	probably damaging	Het
Brd1	A	T	15: 88,614,729 (GRCm39)	D55E	probably benign	Het
Cachd1	A	G	4: 100,809,280 (GRCm39)	D255G	probably benign	Het
Ccdc168	A	T	1: 44,097,425 (GRCm39)	D1224E	possibly damaging	Het
Ces2f	C	A	8: 105,676,704 (GRCm39)	P133T	probably damaging	Het
Cfap251	A	T	5: 123,460,505 (GRCm39)	M1156L	possibly damaging	Het
Clock	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	5: 76,374,889 (GRCm39)		probably benign	Het
Cyp4f37	A	T	17: 32,844,096 (GRCm39)	I67F	probably benign	Het
Dbf4	T	C	5: 8,448,656 (GRCm39)	I84V		Het
Dcc	T	C	18: 71,511,755 (GRCm39)	T887A	probably benign	Het
Dhdh	G	T	7: 45,137,536 (GRCm39)	N50K	probably benign	Het
Dnah7c	A	T	1: 46,671,504 (GRCm39)	E1631V	probably damaging	Het
Dusp23	A	G	1: 172,460,293 (GRCm39)	C53R	possibly damaging	Het
Efcab6	G	A	15: 83,928,432 (GRCm39)	S54L	probably damaging	Het
Fcamr	T	C	1: 130,739,335 (GRCm39)	F212L	probably damaging	Het
Gfap	G	C	11: 102,787,810 (GRCm39)	A45G	probably benign	Het
Grm8	C	T	6: 27,363,752 (GRCm39)	V588M	probably benign	Het
H1f8	A	G	6: 115,926,911 (GRCm39)	T263A	probably benign	Het
Hoatz	T	A	9: 50,992,832 (GRCm39)		probably null	Het
Inhca	T	C	9: 103,149,831 (GRCm39)	Y242C	probably damaging	Het
Malrd1	T	A	2: 15,570,368 (GRCm39)		probably null	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Myh15	T	C	16: 48,997,366 (GRCm39)	V1728A	probably benign	Het
Nxph2	T	A	2: 23,290,071 (GRCm39)	V141D	probably damaging	Het
Or11l3	T	C	11: 58,515,994 (GRCm39)	E106G	unknown	Het
Or2t26	A	T	11: 49,039,483 (GRCm39)	Y133F	probably damaging	Het
Or4f6	A	T	2: 111,838,596 (GRCm39)	S312T	possibly damaging	Het
Or5b121	A	T	19: 13,507,892 (GRCm39)	N329I	probably damaging	Het
Or5d36	T	A	2: 87,901,753 (GRCm39)		probably null	Het
Or5h25	A	G	16: 58,930,121 (GRCm39)	V284A		Het
Or5w10	A	T	2: 87,375,753 (GRCm39)	M45K	probably damaging	Het
Or8c10	A	G	9: 38,279,142 (GRCm39)	N90S	possibly damaging	Het
Otof	T	A	5: 30,578,325 (GRCm39)	I108F	probably benign	Het
Pcdha4	A	T	18: 37,086,011 (GRCm39)	R65*	probably null	Het
Pde11a	T	C	2: 76,041,434 (GRCm39)	H412R	probably benign	Het
Peli3	C	T	19: 4,982,541 (GRCm39)	G375S	probably damaging	Het
Ppp6r3	A	G	19: 3,561,927 (GRCm39)		probably null	Het
Prcp	T	C	7: 92,559,518 (GRCm39)	V194A	possibly damaging	Het
Prkce	T	C	17: 86,476,370 (GRCm39)		probably null	Het
Prss23	A	T	7: 89,159,887 (GRCm39)	S61T	probably benign	Het
Ptprq	C	T	10: 107,535,469 (GRCm39)	R432H	probably damaging	Het
Rspry1	G	T	8: 95,359,780 (GRCm39)	L230F	probably damaging	Het
Slco1a8	A	G	6: 141,927,810 (GRCm39)	V548A	probably damaging	Het
Smpd2	A	G	10: 41,365,301 (GRCm39)	L65P	probably benign	Het
Sorl1	A	G	9: 41,933,722 (GRCm39)	Y1083H	probably benign	Het
Tjp1	A	G	7: 64,986,386 (GRCm39)	S241P	probably damaging	Het
Tmed6	A	C	8: 107,792,164 (GRCm39)	L27R	probably damaging	Het
Tmem52	G	A	4: 155,553,788 (GRCm39)	C32Y	probably damaging	Het
Tmprss15	C	A	16: 78,750,834 (GRCm39)	G1022*	probably null	Het
Ttn	T	C	2: 76,730,345 (GRCm39)	S5085G	unknown	Het
Vmn2r37	C	T	7: 9,209,854 (GRCm39)	V553M	possibly damaging	Het
Wdr70	A	T	15: 8,123,210 (GRCm39)	M42K	probably benign	Het
Zfp735	T	A	11: 73,602,510 (GRCm39)	C485S	possibly damaging	Het

Other mutations in Rnase2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03390:Rnase2a	APN	14	51,492,945 (GRCm39)	missense	probably damaging	0.97
R2024:Rnase2a	UTSW	14	51,493,245 (GRCm39)	missense	probably damaging	0.99
R4487:Rnase2a	UTSW	14	51,493,302 (GRCm39)	missense	unknown
R4774:Rnase2a	UTSW	14	51,493,201 (GRCm39)	missense	probably damaging	1.00
R5431:Rnase2a	UTSW	14	51,493,020 (GRCm39)	missense	possibly damaging	0.64
R6210:Rnase2a	UTSW	14	51,493,131 (GRCm39)	missense	possibly damaging	0.94
R7104:Rnase2a	UTSW	14	51,492,988 (GRCm39)	missense	probably benign
R7699:Rnase2a	UTSW	14	51,493,248 (GRCm39)	missense	probably damaging	1.00
R7700:Rnase2a	UTSW	14	51,493,248 (GRCm39)	missense	probably damaging	1.00
R8295:Rnase2a	UTSW	14	51,493,096 (GRCm39)	missense	probably benign	0.36
R9640:Rnase2a	UTSW	14	51,493,117 (GRCm39)	missense	probably damaging	0.99
X0023:Rnase2a	UTSW	14	51,493,161 (GRCm39)	missense	probably damaging	1.00
Z1176:Rnase2a	UTSW	14	51,493,286 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGTGAACTGGAACCACTGG -3'
(R):5'- ATGTCCTAATGCTTGCCTCATG -3'

Sequencing Primer
(F):5'- GATACATGGGACTGTCCTGAG -3'
(R):5'- AATGCTTGCCTCATGCCAGC -3'

Posted On

2021-07-15