Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02379:Nyap2'

291296

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nyap2

Ensembl Gene

ENSMUSG00000054976

Gene Name

neuronal tyrosine-phophorylated phosphoinositide 3-kinase adaptor 2

Synonyms

Jr6, 9430031J16Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02379

Quality Score

Status

Chromosome

Chromosomal Location

81076950-81341764 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81087430 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 53 (T53I)

Ref Sequence

ENSEMBL: ENSMUSP00000065468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068275] [ENSMUST00000113494] [ENSMUST00000123285] [ENSMUST00000123720] [ENSMUST00000137862]

Predicted Effect

probably damaging
Transcript: ENSMUST00000068275
AA Change: T53I

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

SMART Domains

Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: T53I

Domain	Start	End	E-Value	Type
Pfam:NYAP_N	44	447	1.5e-139	PFAM
Pfam:NYAP_C	496	709	5.2e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113494
AA Change: T53I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
AA Change: T53I

Domain	Start	End	E-Value	Type
Pfam:NYAP_N	43	416	1.4e-134	PFAM
Pfam:NYAP_C	420	647	7.7e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000123285
AA Change: T53I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
AA Change: T53I

Domain	Start	End	E-Value	Type
Pfam:NYAP_N	43	416	1.9e-134	PFAM
Pfam:NYAP_C	420	716	6.3e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000123720
AA Change: T53I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: T53I

Domain	Start	End	E-Value	Type
Pfam:NYAP_N	43	448	1.9e-127	PFAM
low complexity region	489	510	N/A	INTRINSIC
low complexity region	549	564	N/A	INTRINSIC
low complexity region	649	662	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000137862
AA Change: T53I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: T53I

Domain	Start	End	E-Value	Type
Pfam:NYAP_N	43	416	1.4e-134	PFAM
Pfam:NYAP_C	420	647	7.7e-17	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Triple KO of Nyap1, Nyap2 and Myo16 results in decreased brain weight and cortex and striatum size and reduced neurite length in cortical neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,622,043	I996F	probably damaging	Het
Adamts9	T	A	6: 92,797,033	D1133V	probably damaging	Het
Adi1	T	A	12: 28,679,467	D106E	probably damaging	Het
Agl	A	G	3: 116,779,091	F837S	probably damaging	Het
Alb	T	A	5: 90,465,879	D207E	probably benign	Het
Alms1	T	G	6: 85,629,633	V2286G	probably damaging	Het
Alpl	G	A	4: 137,742,558	A485V	probably damaging	Het
Antxrl	C	A	14: 34,056,535		probably null	Het
Apc	C	T	18: 34,298,745	T417I	probably benign	Het
Ash2l	T	C	8: 25,822,771	D390G	probably damaging	Het
Asph	G	A	4: 9,474,980	P582S	probably damaging	Het
Bcr	T	A	10: 75,157,148	L825Q	probably benign	Het
Bhlha15	T	A	5: 144,191,341	N90K	probably damaging	Het
Cgnl1	T	A	9: 71,645,553	Y1043F	possibly damaging	Het
Chek1	T	C	9: 36,723,946	D47G	probably benign	Het
Clca4b	T	A	3: 144,921,858	M451L	probably benign	Het
Csnk1g3	T	C	18: 53,933,492	S346P	probably benign	Het
Cspg4	G	T	9: 56,892,609		probably benign	Het
Ctr9	A	G	7: 111,051,519	K884E	probably damaging	Het
Cyld	T	A	8: 88,744,928	C813*	probably null	Het
Fn3k	A	T	11: 121,435,124	T46S	probably benign	Het
Foxred1	T	C	9: 35,209,986	R89G	probably benign	Het
Gpr174	T	C	X: 107,293,478	F299L	probably damaging	Het
Hdac7	T	C	15: 97,808,385	D312G	probably damaging	Het
Il1f8	A	G	2: 24,154,638	S17G	probably benign	Het
Kcna5	G	T	6: 126,534,509	P219T	probably damaging	Het
Kcnh2	A	C	5: 24,326,638	V425G	probably damaging	Het
Klk5	A	G	7: 43,850,822	N278S	probably damaging	Het
Mars2	T	A	1: 55,238,053	W272R	probably damaging	Het
Msl3l2	C	A	10: 56,115,921	S247R	possibly damaging	Het
Myh7	T	C	14: 54,979,468	E1144G	probably damaging	Het
Nefm	T	C	14: 68,120,239		probably benign	Het
Nwd2	A	G	5: 63,805,301	K743E	probably damaging	Het
Olfr1124	T	C	2: 87,435,324	V279A	probably benign	Het
Olfr617	T	C	7: 103,584,892	V290A	possibly damaging	Het
Peli2	A	G	14: 48,168,298	H60R	probably damaging	Het
Pias2	T	A	18: 77,145,148		probably benign	Het
Pik3c2b	A	G	1: 133,094,791	D1157G	probably damaging	Het
Pip4k2a	C	T	2: 18,866,111		probably null	Het
Raf1	A	T	6: 115,644,548	D23E	probably benign	Het
Rhox10	G	A	X: 38,066,856	R87H	probably benign	Het
Rpgrip1	A	G	14: 52,138,888	T449A	possibly damaging	Het
Serpina3a	T	A	12: 104,118,660	S105T	probably benign	Het
Slc12a9	T	G	5: 137,321,429	Q608P	probably damaging	Het
Smg6	C	A	11: 75,053,925	P167T	probably damaging	Het
Spata7	C	T	12: 98,634,260	T44I	probably damaging	Het
Spink12	C	T	18: 44,106,508		probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stag2	C	T	X: 42,250,597	T754I	probably benign	Het
Supt6	C	T	11: 78,225,369	V723M	possibly damaging	Het
Ttc25	A	T	11: 100,566,983	N471Y	possibly damaging	Het
Ubr3	A	G	2: 69,948,488	D614G	possibly damaging	Het
Vps39	T	A	2: 120,323,608	K624N	probably benign	Het
Vwa5b1	A	T	4: 138,612,859	L29Q	probably damaging	Het
Wtap	G	A	17: 12,969,449	A188V	probably benign	Het
Zc3hc1	A	G	6: 30,390,975	F5L	probably benign	Het
Zfp655	C	T	5: 145,243,955	P208S	probably benign	Het
Zswim3	A	T	2: 164,820,682		probably null	Het

Other mutations in Nyap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00466:Nyap2	APN	1	81191980	missense	probably damaging	0.99
IGL01660:Nyap2	APN	1	81191927	missense	probably damaging	0.99
IGL02652:Nyap2	APN	1	81241720	missense	probably damaging	1.00
IGL03217:Nyap2	APN	1	81087322	missense	probably damaging	1.00
IGL03410:Nyap2	APN	1	81241441	missense	possibly damaging	0.95
R0001:Nyap2	UTSW	1	81192107	missense	probably benign	0.03
R0014:Nyap2	UTSW	1	81241951	missense	probably damaging	0.99
R0506:Nyap2	UTSW	1	81087312	missense	probably damaging	0.99
R1512:Nyap2	UTSW	1	81241851	missense	probably damaging	0.98
R1914:Nyap2	UTSW	1	81191887	missense	probably damaging	1.00
R2018:Nyap2	UTSW	1	81191872	missense	probably benign	0.03
R2078:Nyap2	UTSW	1	81191981	missense	probably damaging	1.00
R2139:Nyap2	UTSW	1	81241268	missense	probably damaging	1.00
R2915:Nyap2	UTSW	1	81087471	nonsense	probably null
R2972:Nyap2	UTSW	1	81191770	nonsense	probably null
R2974:Nyap2	UTSW	1	81191770	nonsense	probably null
R3076:Nyap2	UTSW	1	81241971	critical splice donor site	probably null
R4066:Nyap2	UTSW	1	81241835	missense	probably damaging	1.00
R4134:Nyap2	UTSW	1	81241193	missense	probably damaging	0.99
R4298:Nyap2	UTSW	1	81241096	missense	probably damaging	1.00
R4652:Nyap2	UTSW	1	81336729	missense	probably damaging	0.98
R4788:Nyap2	UTSW	1	81269397	missense	probably benign
R4816:Nyap2	UTSW	1	81241313	missense	probably damaging	1.00
R5211:Nyap2	UTSW	1	81087274	start codon destroyed	probably null	0.77
R5327:Nyap2	UTSW	1	81192041	missense	possibly damaging	0.77
R5453:Nyap2	UTSW	1	81192142	missense	probably benign	0.01
R7337:Nyap2	UTSW	1	81336515	missense	possibly damaging	0.50
R7558:Nyap2	UTSW	1	81269373	missense	probably benign	0.01
R8078:Nyap2	UTSW	1	81241057	missense	possibly damaging	0.95
R8231:Nyap2	UTSW	1	81192131	missense	probably benign
R8482:Nyap2	UTSW	1	81241637	missense	probably damaging	1.00
X0067:Nyap2	UTSW	1	81269319	missense	possibly damaging	0.93

Posted On

2015-04-16