Mutagenetix > Incidental Mutation

Incidental Mutation 'R1573:Auts2'

170959

Institutional Source

Beutler Lab

Gene Symbol

Auts2

Ensembl Gene

ENSMUSG00000029673

Gene Name

autism susceptibility candidate 2

Synonyms

D830032G16Rik, A730011F23Rik, 2700063G02Rik

MMRRC Submission

039612-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131466171-132572059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131469325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 664 (K664R)

Ref Sequence

ENSEMBL: ENSMUSP00000139759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161374] [ENSMUST00000161804] [ENSMUST00000187544]

AlphaFold

A0A087WPF7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160071

SMART Domains

Protein: ENSMUSP00000125349
Gene: ENSMUSG00000029673

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	67	84	N/A	INTRINSIC
low complexity region	92	105	N/A	INTRINSIC
Pfam:Auts2	194	406	2.3e-108	PFAM
low complexity region	433	446	N/A	INTRINSIC
low complexity region	555	565	N/A	INTRINSIC
low complexity region	621	636	N/A	INTRINSIC
low complexity region	763	779	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161226

SMART Domains

Protein: ENSMUSP00000124900
Gene: ENSMUSG00000029673

Domain	Start	End	E-Value	Type
low complexity region	11	45	N/A	INTRINSIC
low complexity region	62	82	N/A	INTRINSIC
low complexity region	133	150	N/A	INTRINSIC
low complexity region	199	214	N/A	INTRINSIC
low complexity region	297	315	N/A	INTRINSIC
low complexity region	330	355	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161374
AA Change: K440R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124730
Gene: ENSMUSG00000029673
AA Change: K440R

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	67	84	N/A	INTRINSIC
low complexity region	92	105	N/A	INTRINSIC
Pfam:Auts2	172	384	1.5e-112	PFAM
low complexity region	411	424	N/A	INTRINSIC
low complexity region	533	543	N/A	INTRINSIC
low complexity region	599	614	N/A	INTRINSIC
low complexity region	741	757	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161804
AA Change: K455R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124027
Gene: ENSMUSG00000029673
AA Change: K455R

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	67	84	N/A	INTRINSIC
low complexity region	92	105	N/A	INTRINSIC
Pfam:Auts2	187	399	3.9e-113	PFAM
low complexity region	426	439	N/A	INTRINSIC
low complexity region	548	558	N/A	INTRINSIC
low complexity region	614	629	N/A	INTRINSIC
low complexity region	756	772	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182575

Predicted Effect

probably damaging
Transcript: ENSMUST00000187544
AA Change: K664R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139759
Gene: ENSMUSG00000029673
AA Change: K664R

Domain	Start	End	E-Value	Type
low complexity region	50	68	N/A	INTRINSIC
low complexity region	83	125	N/A	INTRINSIC
low complexity region	127	161	N/A	INTRINSIC
low complexity region	168	183	N/A	INTRINSIC
low complexity region	212	224	N/A	INTRINSIC
low complexity region	276	293	N/A	INTRINSIC
low complexity region	301	314	N/A	INTRINSIC
Pfam:Auts2	396	608	4.3e-109	PFAM
low complexity region	635	648	N/A	INTRINSIC
low complexity region	757	767	N/A	INTRINSIC
low complexity region	823	838	N/A	INTRINSIC
low complexity region	965	981	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182974

Meta Mutation Damage Score

0.0948

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.1%

Validation Efficiency

98% (90/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a brain-specific knockout are smaller than controls, and exhibit behavioral defects such as less vocalizations, impairments in righting response and geotaxis, and decreased food intake. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,004,445 (GRCm39)		probably benign	Het
Add1	C	G	5: 34,758,740 (GRCm39)	A18G	possibly damaging	Het
Alk	T	C	17: 72,910,113 (GRCm39)	K198E	possibly damaging	Het
Angptl1	T	A	1: 156,684,740 (GRCm39)	L303Q	possibly damaging	Het
Aox1	A	T	1: 58,348,186 (GRCm39)	I635L	probably benign	Het
Atp5mk	T	A	19: 47,074,634 (GRCm39)	Q9L	possibly damaging	Het
Atp8a2	G	T	14: 60,097,655 (GRCm39)	T791K	probably benign	Het
Birc6	T	A	17: 74,967,685 (GRCm39)		probably benign	Het
Cacna1i	C	A	15: 80,277,869 (GRCm39)		probably null	Het
Cacna2d1	T	C	5: 16,575,625 (GRCm39)	F1077L	probably damaging	Het
Camkk1	C	T	11: 72,918,307 (GRCm39)	R52C	probably damaging	Het
Camkmt	T	A	17: 85,403,958 (GRCm39)	V60E	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cbr2	A	T	11: 120,622,791 (GRCm39)	L3Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,434 (GRCm39)	D920E	unknown	Het
Cdc20b	A	G	13: 113,192,478 (GRCm39)	N57S	probably benign	Het
Cep83	G	A	10: 94,624,525 (GRCm39)	E601K	probably damaging	Het
Cldn10	A	T	14: 119,111,080 (GRCm39)	I176L	probably benign	Het
Cpeb2	T	C	5: 43,441,273 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,265,344 (GRCm39)	S25P	probably damaging	Het
Cyp3a59	A	T	5: 146,039,684 (GRCm39)	Y319F	probably damaging	Het
Dst	C	T	1: 34,240,312 (GRCm39)	S1561F	probably damaging	Het
Dxo	C	T	17: 35,057,270 (GRCm39)	R221C	probably damaging	Het
Dynlt4	A	T	4: 116,985,191 (GRCm39)	T5S	probably benign	Het
Epc2	A	G	2: 49,439,984 (GRCm39)	T801A	possibly damaging	Het
Fndc3a	C	A	14: 72,806,384 (GRCm39)	C373F	probably damaging	Het
Frmpd1	T	C	4: 45,283,932 (GRCm39)	S918P	probably benign	Het
Fuca2	A	G	10: 13,381,587 (GRCm39)	T84A	possibly damaging	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Gmeb1	A	T	4: 131,979,051 (GRCm39)	N21K	probably benign	Het
Htt	T	C	5: 35,021,718 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,880,863 (GRCm39)	R251G	possibly damaging	Het
Itih4	A	T	14: 30,619,504 (GRCm39)	H720L	probably benign	Het
Kank4	A	T	4: 98,663,073 (GRCm39)	L705*	probably null	Het
Krt34	A	T	11: 99,931,854 (GRCm39)	S122T	probably benign	Het
L1td1	A	G	4: 98,625,517 (GRCm39)	T571A	probably benign	Het
Lag3	T	C	6: 124,886,210 (GRCm39)	T248A	possibly damaging	Het
Lgi1	T	A	19: 38,272,629 (GRCm39)	H133Q	probably benign	Het
Map1a	A	T	2: 121,134,607 (GRCm39)	T1808S	probably benign	Het
Mcm9	T	C	10: 53,424,752 (GRCm39)	T613A	probably damaging	Het
Meaf6	A	G	4: 124,983,931 (GRCm39)	I111V	probably benign	Het
Mki67	G	A	7: 135,296,845 (GRCm39)	P2730S	possibly damaging	Het
Mlc1	A	C	15: 88,842,350 (GRCm39)	C337G	probably damaging	Het
Mrc2	T	A	11: 105,227,482 (GRCm39)	Y572N	probably damaging	Het
Mterf3	T	C	13: 67,070,967 (GRCm39)	N172S	possibly damaging	Het
Or3a1c	T	A	11: 74,046,196 (GRCm39)	M72K	probably benign	Het
Or4b1	A	T	2: 89,979,068 (GRCm39)		probably benign	Het
Or4c115	T	A	2: 88,928,064 (GRCm39)	D69V	probably damaging	Het
Or5ak4	A	T	2: 85,161,687 (GRCm39)	L185H	probably damaging	Het
Or6c6c	T	C	10: 129,541,487 (GRCm39)	S247P	probably damaging	Het
Padi4	T	G	4: 140,484,881 (GRCm39)	T327P	possibly damaging	Het
Pga5	T	A	19: 10,651,201 (GRCm39)	I151F	probably benign	Het
Pkdrej	G	T	15: 85,702,275 (GRCm39)	D1220E	probably benign	Het
Prokr2	T	A	2: 132,215,684 (GRCm39)	Q259L	probably damaging	Het
Ptbp2	C	A	3: 119,546,754 (GRCm39)	D43Y	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgps2	C	T	1: 156,660,500 (GRCm39)	R237Q	possibly damaging	Het
Rap1gds1	C	A	3: 138,671,624 (GRCm39)		probably null	Het
Saa2	T	A	7: 46,401,716 (GRCm39)	M1K	probably null	Het
Samd9l	T	C	6: 3,375,426 (GRCm39)	I612V	probably damaging	Het
Scn10a	C	T	9: 119,442,692 (GRCm39)	V1518I	probably benign	Het
Serpina6	T	C	12: 103,618,012 (GRCm39)	D267G	probably damaging	Het
Sh2d4b	A	G	14: 40,564,329 (GRCm39)		probably null	Het
Sh3bp2	T	C	5: 34,718,034 (GRCm39)	V505A	probably benign	Het
Smad2	A	G	18: 76,395,657 (GRCm39)	E32G	possibly damaging	Het
Smn1	T	G	13: 100,263,118 (GRCm39)	D32E	probably damaging	Het
Spata31d1c	T	C	13: 65,182,883 (GRCm39)	S142P	possibly damaging	Het
Stk39	A	T	2: 68,221,293 (GRCm39)	I210N	probably damaging	Het
Tcte2	A	G	17: 13,937,899 (GRCm39)		probably benign	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Tenm2	A	T	11: 35,937,896 (GRCm39)	H1592Q	probably damaging	Het
Tescl	A	G	7: 24,032,668 (GRCm39)	V219A	probably damaging	Het
Tgm6	C	T	2: 129,993,660 (GRCm39)	S633L	probably benign	Het
Tmcc1	C	T	6: 116,110,924 (GRCm39)	S123N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ulk2	G	A	11: 61,670,581 (GRCm39)	R992C	probably damaging	Het
Vwa5b1	G	A	4: 138,332,184 (GRCm39)	H278Y	probably damaging	Het
Wwp2	C	T	8: 108,275,121 (GRCm39)	R373W	probably damaging	Het
Zfp24	A	T	18: 24,150,399 (GRCm39)	D170E	possibly damaging	Het
Zfp808	T	C	13: 62,319,311 (GRCm39)	I180T	possibly damaging	Het
Zfp820	T	A	17: 22,037,737 (GRCm39)	Q530H	probably benign	Het
Zfp975	A	T	7: 42,311,507 (GRCm39)	Y369N	probably benign	Het

Other mutations in Auts2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Auts2	APN	5	131,469,056 (GRCm39)	missense	probably benign	0.00
IGL01751:Auts2	APN	5	131,501,198 (GRCm39)	missense	probably damaging	0.99
IGL02070:Auts2	APN	5	131,499,259 (GRCm39)	missense	probably damaging	1.00
R0032:Auts2	UTSW	5	131,468,931 (GRCm39)	missense	probably damaging	1.00
R0033:Auts2	UTSW	5	131,468,931 (GRCm39)	missense	probably damaging	1.00
R0046:Auts2	UTSW	5	131,799,624 (GRCm39)	exon	noncoding transcript
R0399:Auts2	UTSW	5	131,469,362 (GRCm39)	missense	probably benign	0.37
R0412:Auts2	UTSW	5	131,475,669 (GRCm39)	missense	probably benign	0.02
R0551:Auts2	UTSW	5	131,469,307 (GRCm39)	missense	possibly damaging	0.75
R1536:Auts2	UTSW	5	131,516,302 (GRCm39)	intron	probably benign
R1789:Auts2	UTSW	5	131,501,288 (GRCm39)	missense	probably damaging	1.00
R1912:Auts2	UTSW	5	131,472,412 (GRCm39)	missense	probably damaging	1.00
R2431:Auts2	UTSW	5	132,287,887 (GRCm39)	nonsense	probably null
R3745:Auts2	UTSW	5	131,505,425 (GRCm39)	utr 5 prime	probably benign
R4290:Auts2	UTSW	5	131,503,809 (GRCm39)	missense	probably damaging	1.00
R4575:Auts2	UTSW	5	132,287,773 (GRCm39)	missense	probably benign	0.17
R4576:Auts2	UTSW	5	132,287,773 (GRCm39)	missense	probably benign	0.17
R4578:Auts2	UTSW	5	132,287,773 (GRCm39)	missense	probably benign	0.17
R4623:Auts2	UTSW	5	131,469,221 (GRCm39)	missense	probably benign	0.25
R4632:Auts2	UTSW	5	131,501,113 (GRCm39)	missense	probably damaging	1.00
R4663:Auts2	UTSW	5	131,468,476 (GRCm39)	missense	probably damaging	1.00
R4835:Auts2	UTSW	5	131,494,931 (GRCm39)	missense	probably damaging	1.00
R4881:Auts2	UTSW	5	131,501,288 (GRCm39)	missense	probably damaging	1.00
R5030:Auts2	UTSW	5	131,472,336 (GRCm39)	missense	probably benign	0.00
R5032:Auts2	UTSW	5	131,505,730 (GRCm39)	utr 5 prime	probably benign
R5078:Auts2	UTSW	5	132,287,786 (GRCm39)	missense	possibly damaging	0.85
R5093:Auts2	UTSW	5	131,468,296 (GRCm39)	missense	probably damaging	0.99
R5182:Auts2	UTSW	5	131,503,919 (GRCm39)	missense	probably null	0.01
R5305:Auts2	UTSW	5	131,472,632 (GRCm39)	intron	probably benign
R5429:Auts2	UTSW	5	131,501,173 (GRCm39)	missense	probably damaging	1.00
R5601:Auts2	UTSW	5	131,505,662 (GRCm39)	utr 5 prime	probably benign
R5725:Auts2	UTSW	5	131,468,584 (GRCm39)	missense	probably benign	0.35
R5990:Auts2	UTSW	5	131,505,734 (GRCm39)	utr 5 prime	probably benign
R6074:Auts2	UTSW	5	131,505,828 (GRCm39)	utr 5 prime	probably benign
R6130:Auts2	UTSW	5	131,469,061 (GRCm39)	missense	probably damaging	1.00
R6321:Auts2	UTSW	5	131,494,953 (GRCm39)	missense	probably damaging	1.00
R6974:Auts2	UTSW	5	131,469,437 (GRCm39)	missense	probably benign	0.01
R7000:Auts2	UTSW	5	131,469,056 (GRCm39)	missense	probably benign	0.01
R7014:Auts2	UTSW	5	131,494,961 (GRCm39)	missense	probably damaging	1.00
R7154:Auts2	UTSW	5	131,480,731 (GRCm39)	missense
R7812:Auts2	UTSW	5	131,501,284 (GRCm39)	missense
R7922:Auts2	UTSW	5	131,469,211 (GRCm39)	missense
R8159:Auts2	UTSW	5	131,488,963 (GRCm39)	critical splice donor site	probably null
R8553:Auts2	UTSW	5	131,468,981 (GRCm39)	missense	probably benign	0.00
R8873:Auts2	UTSW	5	131,472,502 (GRCm39)	missense
R8970:Auts2	UTSW	5	132,287,791 (GRCm39)	missense	possibly damaging	0.52
R9348:Auts2	UTSW	5	131,490,155 (GRCm39)	missense
R9500:Auts2	UTSW	5	131,505,620 (GRCm39)	missense	unknown
Z1088:Auts2	UTSW	5	131,505,392 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCCCGACTAGAGGTGCTGTTAGG -3'
(R):5'- AGCTAAAGCTGTCCCAAGAAGCTG -3'

Sequencing Primer
(F):5'- GCCTGGTGCTATCCACG -3'
(R):5'- AAGGCAGGTCCCTAAGTCTC -3'

Posted On

2014-04-13