Mutagenetix > Incidental Mutation

Incidental Mutation 'R6449:Aadacl2fm2'

519284

Institutional Source

Beutler Lab

Gene Symbol

Aadacl2fm2

Ensembl Gene

ENSMUSG00000090527

Gene Name

AADACL2 family member 2

Synonyms

Gm5538

MMRRC Submission

044585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6449 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59637211-59659754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59652972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 137 (D137V)

Ref Sequence

ENSEMBL: ENSMUSP00000128877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168156]

AlphaFold

W4VSP6

Predicted Effect

probably damaging
Transcript: ENSMUST00000168156
AA Change: D137V

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

SMART Domains

Protein: ENSMUSP00000128877
Gene: ENSMUSG00000090527
AA Change: D137V

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
Pfam:DUF2424	70	214	9.3e-9	PFAM
Pfam:COesterase	91	236	5.4e-10	PFAM
Pfam:Abhydrolase_3	107	287	6.6e-36	PFAM
Pfam:Abhydrolase_3	271	375	1.4e-13	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,298 (GRCm39)	Q334*	probably null	Het
Adam28	T	C	14: 68,868,116 (GRCm39)	T410A	probably benign	Het
Ano10	T	C	9: 122,030,754 (GRCm39)		probably benign	Het
Bmpr2	T	A	1: 59,906,596 (GRCm39)	V563E	probably damaging	Het
Ccdc47	A	G	11: 106,095,811 (GRCm39)	L295P	probably damaging	Het
Cdhr1	T	C	14: 36,812,554 (GRCm39)	T210A	probably benign	Het
Col16a1	G	A	4: 129,960,486 (GRCm39)	A408T	unknown	Het
Csnk1g2	A	G	10: 80,475,906 (GRCm39)	K415R	probably damaging	Het
Cyp2c29	G	T	19: 39,279,311 (GRCm39)	A103S	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsg1b	A	T	18: 20,527,498 (GRCm39)	I210F	possibly damaging	Het
Fhod1	T	A	8: 106,056,869 (GRCm39)	D1002V	probably damaging	Het
Gm5592	G	A	7: 40,938,010 (GRCm39)	V431I	probably benign	Het
Gtpbp4	A	T	13: 9,040,773 (GRCm39)	C174*	probably null	Het
Il2ra	A	G	2: 11,685,173 (GRCm39)	K170E	probably benign	Het
Itch	T	C	2: 155,005,315 (GRCm39)		probably benign	Het
Jazf1	A	C	6: 52,754,640 (GRCm39)	D145E	probably damaging	Het
Kank2	G	T	9: 21,691,858 (GRCm39)	A469E	possibly damaging	Het
Kirrel3	A	G	9: 34,902,269 (GRCm39)	I125V	probably benign	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Krtap27-1	C	T	16: 88,467,941 (GRCm39)	S201N	probably benign	Het
Map3k20	T	C	2: 72,228,758 (GRCm39)	S326P	probably damaging	Het
Mkks	C	A	2: 136,716,206 (GRCm39)	V565F	probably damaging	Het
Ntaq1	T	G	15: 58,013,994 (GRCm39)		probably null	Het
Or5c1	A	G	2: 37,221,837 (GRCm39)	D26G	possibly damaging	Het
Or5k8	A	T	16: 58,644,889 (GRCm39)	I61N	probably damaging	Het
Or5w11	T	C	2: 87,459,493 (GRCm39)	S229P	possibly damaging	Het
Pacsin3	A	T	2: 91,090,514 (GRCm39)		probably null	Het
Pdcd7	A	G	9: 65,264,057 (GRCm39)	E434G	probably damaging	Het
Plekhb2	T	C	1: 34,903,564 (GRCm39)	F102L	probably benign	Het
Ppp1r9a	A	G	6: 5,057,458 (GRCm39)	D191G	probably benign	Het
Psmd3	A	G	11: 98,576,466 (GRCm39)	T123A	probably benign	Het
Ptprq	C	T	10: 107,541,444 (GRCm39)	V361M	probably benign	Het
Raver2	A	G	4: 100,990,869 (GRCm39)	D414G	probably benign	Het
Rnf123	G	A	9: 107,933,252 (GRCm39)	H1162Y	probably benign	Het
Sema4f	A	G	6: 82,894,851 (GRCm39)	V448A	probably benign	Het
Tcf12	A	T	9: 71,775,550 (GRCm39)	M400K	probably damaging	Het
Tcl1b2	G	T	12: 105,119,261 (GRCm39)	E50*	probably null	Het
Thada	A	C	17: 84,736,601 (GRCm39)	D893E	probably benign	Het
Trim24	G	A	6: 37,880,587 (GRCm39)		probably null	Het
Ttll5	T	C	12: 86,071,050 (GRCm39)	S1308P	probably benign	Het
Ubtfl1	T	A	9: 18,320,925 (GRCm39)	I151N	possibly damaging	Het
Vmn2r70	A	T	7: 85,214,157 (GRCm39)	F332I	probably damaging	Het
Zfhx4	A	G	3: 5,307,488 (GRCm39)	D238G	probably damaging	Het
Zfp639	A	G	3: 32,573,810 (GRCm39)	H145R	possibly damaging	Het

Other mutations in Aadacl2fm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Aadacl2fm2	APN	3	59,659,542 (GRCm39)	missense	possibly damaging	0.91
IGL00934:Aadacl2fm2	APN	3	59,659,474 (GRCm39)	missense	probably benign	0.00
IGL02335:Aadacl2fm2	APN	3	59,651,026 (GRCm39)	missense	probably benign
IGL02709:Aadacl2fm2	APN	3	59,654,619 (GRCm39)	missense	probably damaging	1.00
IGL03114:Aadacl2fm2	APN	3	59,651,144 (GRCm39)	missense	possibly damaging	0.55
R0107:Aadacl2fm2	UTSW	3	59,659,737 (GRCm39)	missense	possibly damaging	0.78
R0591:Aadacl2fm2	UTSW	3	59,659,550 (GRCm39)	nonsense	probably null
R0850:Aadacl2fm2	UTSW	3	59,659,669 (GRCm39)	missense	possibly damaging	0.80
R1127:Aadacl2fm2	UTSW	3	59,659,314 (GRCm39)	missense	probably benign	0.00
R1916:Aadacl2fm2	UTSW	3	59,652,924 (GRCm39)	missense	possibly damaging	0.48
R3008:Aadacl2fm2	UTSW	3	59,652,930 (GRCm39)	missense	possibly damaging	0.93
R3921:Aadacl2fm2	UTSW	3	59,659,498 (GRCm39)	missense	probably damaging	0.98
R4368:Aadacl2fm2	UTSW	3	59,659,387 (GRCm39)	missense	probably damaging	1.00
R5240:Aadacl2fm2	UTSW	3	59,659,449 (GRCm39)	missense	probably damaging	0.99
R5268:Aadacl2fm2	UTSW	3	59,659,444 (GRCm39)	missense	probably damaging	0.99
R5511:Aadacl2fm2	UTSW	3	59,654,685 (GRCm39)	missense	probably damaging	1.00
R5564:Aadacl2fm2	UTSW	3	59,659,513 (GRCm39)	missense	probably benign
R5812:Aadacl2fm2	UTSW	3	59,654,693 (GRCm39)	missense	probably damaging	1.00
R5981:Aadacl2fm2	UTSW	3	59,659,299 (GRCm39)	missense	probably benign
R6049:Aadacl2fm2	UTSW	3	59,659,570 (GRCm39)	missense	probably damaging	1.00
R6195:Aadacl2fm2	UTSW	3	59,659,623 (GRCm39)	missense	probably damaging	0.98
R6353:Aadacl2fm2	UTSW	3	59,659,529 (GRCm39)	missense	probably damaging	1.00
R6845:Aadacl2fm2	UTSW	3	59,659,539 (GRCm39)	missense	probably damaging	1.00
R7382:Aadacl2fm2	UTSW	3	59,651,037 (GRCm39)	missense	probably benign	0.18
R7585:Aadacl2fm2	UTSW	3	59,651,143 (GRCm39)	missense	possibly damaging	0.94
R7827:Aadacl2fm2	UTSW	3	59,651,112 (GRCm39)	missense	probably damaging	0.99
R7844:Aadacl2fm2	UTSW	3	59,637,318 (GRCm39)	missense	probably benign	0.32
R8308:Aadacl2fm2	UTSW	3	59,659,570 (GRCm39)	missense	probably damaging	1.00
R8830:Aadacl2fm2	UTSW	3	59,654,744 (GRCm39)	missense	probably benign	0.03
R9447:Aadacl2fm2	UTSW	3	59,651,051 (GRCm39)	missense	probably damaging	0.96
R9557:Aadacl2fm2	UTSW	3	59,659,160 (GRCm39)	missense	possibly damaging	0.89
Z1176:Aadacl2fm2	UTSW	3	59,654,615 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGTGACCAACCAGATTTTGCC -3'
(R):5'- GTAGAAAAGTCTGGCCAATGTC -3'

Sequencing Primer
(F):5'- CCAACCAGATTTTGCCTAACTATAG -3'
(R):5'- CTGGAAGGGCTATGATCA -3'

Posted On

2018-05-24