Mutagenetix > Incidental Mutation

Incidental Mutation 'R9557:Aadacl2fm2'

720786

Institutional Source

Beutler Lab

Gene Symbol

Aadacl2fm2

Ensembl Gene

ENSMUSG00000090527

Gene Name

AADACL2 family member 2

Synonyms

Gm5538

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9557 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59637211-59659754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59659160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 204 (N204K)

Ref Sequence

ENSEMBL: ENSMUSP00000128877 (fasta)

Gene Model

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

AlphaFold

W4VSP6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168156
AA Change: N204K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128877
Gene: ENSMUSG00000090527
AA Change: N204K

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	G	3: 59,784,654 (GRCm39)	F376V	possibly damaging	Het
Abca5	A	G	11: 110,197,109 (GRCm39)	L523P	probably damaging	Het
Adcy5	T	C	16: 35,091,327 (GRCm39)	V590A	probably damaging	Het
Alg1	A	T	16: 5,057,820 (GRCm39)	D238V	probably damaging	Het
Ankrd55	C	A	13: 112,485,347 (GRCm39)	P187H	probably damaging	Het
Aox4	G	T	1: 58,285,095 (GRCm39)	V616F	probably benign	Het
Apc	C	A	18: 34,451,412 (GRCm39)	H2769Q	probably damaging	Het
Bach1	C	G	16: 87,516,603 (GRCm39)	S381R	probably benign	Het
C2cd2l	G	A	9: 44,231,127 (GRCm39)	A20V	probably benign	Het
Catsperg1	T	C	7: 28,904,223 (GRCm39)	D266G	probably damaging	Het
Ces4a	A	G	8: 105,869,527 (GRCm39)	S233G	possibly damaging	Het
Comp	T	A	8: 70,829,854 (GRCm39)	D359E	probably benign	Het
Cyp2b13	A	C	7: 25,780,123 (GRCm39)	N91T	probably benign	Het
Dhx9	A	C	1: 153,333,292 (GRCm39)	M1151R	probably benign	Het
Dync2i2	G	A	2: 29,922,534 (GRCm39)	A366V	possibly damaging	Het
E2f5	G	T	3: 14,653,311 (GRCm39)	L142F	probably benign	Het
Egflam	G	T	15: 7,241,656 (GRCm39)	N917K	probably damaging	Het
Ercc6l2	C	T	13: 63,989,936 (GRCm39)	R254C	probably damaging	Het
Erh	G	A	12: 80,689,571 (GRCm39)	P18S	probably benign	Het
Fam110b	T	C	4: 5,799,064 (GRCm39)	S161P	probably damaging	Het
Fam210a	TAAAATGTTCCAAA	TAAA	18: 68,408,848 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,180,458 (GRCm39)	I1775V	probably damaging	Het
Fry	C	A	5: 150,389,781 (GRCm39)	Q137K		Het
Gm4787	A	T	12: 81,426,074 (GRCm39)	L28*	probably null	Het
Gpr179	A	G	11: 97,235,029 (GRCm39)	F434L	probably damaging	Het
Grik2	T	C	10: 49,404,105 (GRCm39)	Y252C	probably damaging	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hectd4	A	G	5: 121,459,617 (GRCm39)	T829A	possibly damaging	Het
Ing4	A	G	6: 125,025,354 (GRCm39)	E245G	probably benign	Het
Lgr4	C	T	2: 109,827,084 (GRCm39)	A196V	probably damaging	Het
Lrrc51	T	A	7: 101,562,329 (GRCm39)	K176N	probably benign	Het
Lrrc9	T	A	12: 72,532,981 (GRCm39)	M950K	probably benign	Het
Lrrd1	A	T	5: 3,901,432 (GRCm39)	D579V	probably damaging	Het
Magi3	C	T	3: 103,922,473 (GRCm39)	A1415T	probably benign	Het
Magi3	A	C	3: 103,924,933 (GRCm39)	I1072S	probably damaging	Het
Mast1	G	A	8: 85,657,474 (GRCm39)	T101I	probably damaging	Het
Mccc1	A	T	3: 36,049,976 (GRCm39)	V72E	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Megf8	A	T	7: 25,058,511 (GRCm39)	Q2169L	possibly damaging	Het
Mllt6	A	G	11: 97,564,310 (GRCm39)	D342G	probably benign	Het
Mycbp2	T	A	14: 103,372,697 (GRCm39)	T4050S	probably benign	Het
Nbeal1	A	G	1: 60,274,509 (GRCm39)	T307A	probably benign	Het
Or11g27	A	G	14: 50,771,552 (GRCm39)	T228A	probably benign	Het
Or52d3	T	C	7: 104,229,768 (GRCm39)	I305T	probably damaging	Het
Plat	T	C	8: 23,262,669 (GRCm39)	F125L	probably benign	Het
Ppm1b	T	A	17: 85,301,501 (GRCm39)	M127K	probably benign	Het
Ppp4r1	C	A	17: 66,110,258 (GRCm39)	D52E	probably benign	Het
Rasgrp3	T	G	17: 75,807,139 (GRCm39)	I201S	probably damaging	Het
Rfpl4b	T	A	10: 38,696,870 (GRCm39)	M244L	probably benign	Het
Rhbdl3	A	T	11: 80,244,277 (GRCm39)	H328L	probably benign	Het
Rsad2	T	A	12: 26,495,521 (GRCm39)	I325F	probably damaging	Het
Shank2	T	C	7: 143,963,847 (GRCm39)	V485A	probably benign	Het
Slc6a5	A	G	7: 49,561,474 (GRCm39)	N2S	probably benign	Het
Sox4	G	T	13: 29,136,913 (GRCm39)	A31E	probably damaging	Het
Suv39h2	A	T	2: 3,475,451 (GRCm39)	C2S		Het
Tet2	A	G	3: 133,191,566 (GRCm39)	I956T	probably benign	Het
Topaz1	A	G	9: 122,578,530 (GRCm39)	D480G	possibly damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ugt1a6b	G	T	1: 88,034,820 (GRCm39)	G53*	probably null	Het
Vmn1r173	T	C	7: 23,402,209 (GRCm39)	V148A	probably damaging	Het
Vnn1	G	A	10: 23,776,723 (GRCm39)	C358Y	probably damaging	Het
Wdr89	A	G	12: 75,679,666 (GRCm39)	V196A	probably damaging	Het
Wfdc6a	T	A	2: 164,425,758 (GRCm39)	D71V	possibly damaging	Het
Zc3h3	T	C	15: 75,711,145 (GRCm39)	K439E	probably damaging	Het
Zfp367	T	C	13: 64,300,586 (GRCm39)	H73R	probably damaging	Het
Zfp955a	G	A	17: 33,461,107 (GRCm39)	R342*	probably null	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
R6449:Aadacl2fm2	UTSW	3	59,652,972 (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
Z1176:Aadacl2fm2	UTSW	3	59,654,615 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- ATACTGTGAATAACTGCATGGGTAG -3'
(R):5'- TAGCCTGGACCAATGCTGTATC -3'

Sequencing Primer
(F):5'- CTGCATGGGTAGGAGAGTATATAC -3'
(R):5'- TGGACCAATGCTGTATCTTCAG -3'

Posted On

2022-08-09