Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Aar2'

216222

Institutional Source

Beutler Lab

Gene Symbol

Aar2

Ensembl Gene

ENSMUSG00000027628

Gene Name

AAR2 splicing factor homolog

Synonyms

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R0709 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

156547584-156568972 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 156567010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 378 (P378L)

Ref Sequence

ENSEMBL: ENSMUSP00000105198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029158] [ENSMUST00000109570]

AlphaFold

Q9D2V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000029158
AA Change: P378L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029158
Gene: ENSMUSG00000027628
AA Change: P378L

Domain	Start	End	E-Value	Type
Pfam:AAR2	6	367	4.5e-100	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109570
AA Change: P378L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105198
Gene: ENSMUSG00000027628
AA Change: P378L

Domain	Start	End	E-Value	Type
Pfam:AAR2	17	364	3.8e-108	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144818

Meta Mutation Damage Score

0.2334

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494 (GRCm38)	D137V	probably damaging	Het
Abcc5	A	T	16: 20,376,592 (GRCm38)	H718Q	possibly damaging	Het
Ace	G	T	11: 105,981,538 (GRCm38)	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514 (GRCm38)	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103 (GRCm38)	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654 (GRCm38)	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425 (GRCm38)	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970 (GRCm38)	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,067,662 (GRCm38)	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646 (GRCm38)	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978 (GRCm38)	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548 (GRCm38)		probably benign	Het
Copb2	A	T	9: 98,563,167 (GRCm38)		probably benign	Het
Csrnp3	C	T	2: 66,022,563 (GRCm38)	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671 (GRCm38)	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928 (GRCm38)	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255 (GRCm38)	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265 (GRCm38)		probably benign	Het
Eif4a1	C	A	11: 69,670,252 (GRCm38)	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251 (GRCm38)	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313 (GRCm38)	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359 (GRCm38)	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346 (GRCm38)	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234 (GRCm38)		probably benign	Het
Gprc5a	T	A	6: 135,078,950 (GRCm38)	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730 (GRCm38)	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508 (GRCm38)	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127 (GRCm38)	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800 (GRCm38)	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904 (GRCm38)		probably benign	Het
Irx3	A	G	8: 91,799,420 (GRCm38)	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554 (GRCm38)	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454 (GRCm38)		probably benign	Het
Loxhd1	G	A	18: 77,404,969 (GRCm38)	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596 (GRCm38)	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188 (GRCm38)	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733 (GRCm38)	D461V	unknown	Het
Nek6	T	A	2: 38,557,846 (GRCm38)	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506 (GRCm38)	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990 (GRCm38)	F192L	probably damaging	Het
Olfr1202	C	T	2: 88,817,882 (GRCm38)	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126 (GRCm38)	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404 (GRCm38)	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104 (GRCm38)	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520 (GRCm38)	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778 (GRCm38)		probably null	Het
Polg2	C	T	11: 106,768,413 (GRCm38)	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332 (GRCm38)		probably null	Het
Reg1	G	A	6: 78,428,118 (GRCm38)	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798 (GRCm38)	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777 (GRCm38)	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159 (GRCm38)	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148 (GRCm38)	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470 (GRCm38)		probably benign	Het
Sorcs3	G	A	19: 48,487,406 (GRCm38)	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281 (GRCm38)	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855 (GRCm38)	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294 (GRCm38)	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453 (GRCm38)	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574 (GRCm38)	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941 (GRCm38)	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354 (GRCm38)	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607 (GRCm38)	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644 (GRCm38)	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146 (GRCm38)	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403 (GRCm38)		probably benign	Het
Ttr	A	T	18: 20,669,977 (GRCm38)		probably null	Het
Ubp1	A	G	9: 113,944,931 (GRCm38)	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619 (GRCm38)	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904 (GRCm38)	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772 (GRCm38)	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937 (GRCm38)	T97I	probably damaging	Het

Other mutations in Aar2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0238:Aar2	UTSW	2	156,550,973 (GRCm38)	missense	probably benign
R0238:Aar2	UTSW	2	156,550,973 (GRCm38)	missense	probably benign
R4238:Aar2	UTSW	2	156,551,144 (GRCm38)	missense	possibly damaging	0.85
R7421:Aar2	UTSW	2	156,555,995 (GRCm38)	missense	possibly damaging	0.71
R7806:Aar2	UTSW	2	156,551,111 (GRCm38)	missense	possibly damaging	0.87
R8017:Aar2	UTSW	2	156,555,956 (GRCm38)	missense	probably benign
R8525:Aar2	UTSW	2	156,555,917 (GRCm38)	missense	probably benign	0.00
R9302:Aar2	UTSW	2	156,551,036 (GRCm38)	missense	probably damaging	1.00
R9339:Aar2	UTSW	2	156,550,973 (GRCm38)	missense	probably benign
R9729:Aar2	UTSW	2	156,551,441 (GRCm38)	missense	probably benign	0.02
R9789:Aar2	UTSW	2	156,550,825 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTACTGCCCCAGAGAGCTGAAC -3'
(R):5'- CGTATTATGGTGAGCACAGGCTCC -3'

Sequencing Primer
(F):5'- GGAAAATTCCACAGCTTTTTTGGC -3'
(R):5'- AGCACAGGCTCCAGCTC -3'

Posted On

2014-07-31