Mutagenetix > Incidental Mutation

Incidental Mutation 'R2974:Nyap2'

255304

Institutional Source

Beutler Lab

Gene Symbol

Nyap2

Ensembl Gene

ENSMUSG00000054976

Gene Name

neuronal tyrosine-phophorylated phosphoinositide 3-kinase adaptor 2

Synonyms

Jr6, 9430031J16Rik

MMRRC Submission

040527-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81076950-81341764 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 81191770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 81 (R81*)

Ref Sequence

ENSEMBL: ENSMUSP00000120767 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000068275
AA Change: R81*

SMART Domains

Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: R81*

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 null
Transcript: ENSMUST00000113494
AA Change: R81*

SMART Domains

Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
AA Change: R81*

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 null
Transcript: ENSMUST00000123285
AA Change: R81*

SMART Domains

Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
AA Change: R81*

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 null
Transcript: ENSMUST00000123720
AA Change: R81*

SMART Domains

Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: R81*

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 null
Transcript: ENSMUST00000137862
AA Change: R81*

SMART Domains

Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: R81*

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

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

97% (38/39)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230104L09Rik	T	C	2: 148,850,786	D32G	probably benign	Het
Abca7	T	G	10: 80,008,967	F1508V	probably damaging	Het
BC048507	T	C	13: 67,863,630	I42T	probably benign	Het
Cop1	A	G	1: 159,324,929	H583R	possibly damaging	Het
Crnkl1	A	G	2: 145,932,261	L94P	probably benign	Het
Ctu1	A	G	7: 43,675,650		probably benign	Het
D930007J09Rik	C	T	13: 32,802,759		probably benign	Het
Depdc5	T	C	5: 32,934,017		probably null	Het
Dnah14	A	T	1: 181,755,241		probably null	Het
Doxl2	A	G	6: 48,976,424	T428A	probably benign	Het
Dpp10	A	G	1: 123,411,705		probably benign	Het
Gm13757	A	T	2: 88,446,574	C121*	probably null	Het
Gsdme	A	G	6: 50,229,324	C180R	probably damaging	Het
Gse1	C	A	8: 120,570,897		probably benign	Het
Med15	T	C	16: 17,652,711	Y744C	probably damaging	Het
Nlrp4d	A	G	7: 10,378,440		probably benign	Het
Olfr948	T	C	9: 39,318,996	N206S	probably damaging	Het
Phax	T	A	18: 56,573,062	M8K	probably benign	Het
Plec	C	G	15: 76,188,761	G631R	probably damaging	Het
Rgs3	A	T	4: 62,640,720	T476S	probably damaging	Het
Rogdi	G	T	16: 5,011,662	Q90K	probably damaging	Het
Rxrg	G	A	1: 167,639,146	R422H	probably damaging	Het
Serpinb9e	T	A	13: 33,255,143	V184E	probably benign	Het
Simc1	A	G	13: 54,550,461	D397G	probably damaging	Het
Slc25a27	T	C	17: 43,653,371	N203D	probably damaging	Het
Slit1	G	A	19: 41,611,016	P1032L	probably benign	Het
Sptlc3	A	G	2: 139,589,661	T368A	probably damaging	Het
Tnip1	C	T	11: 54,933,983		probably benign	Het
Tpgs1	A	G	10: 79,669,615	E69G	probably damaging	Het
Trpv5	T	C	6: 41,653,231	S642G	possibly damaging	Het
Ube2d2a	T	A	18: 35,800,172	D87E	possibly damaging	Het
Vmn2r117	A	G	17: 23,459,856	V798A	probably damaging	Het
Vmn2r77	T	C	7: 86,803,685	Y537H	probably benign	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
IGL02379:Nyap2	APN	1	81087430	missense	probably damaging	1.00
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
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
R9047:Nyap2	UTSW	1	81298088	missense	possibly damaging	0.95
R9056:Nyap2	UTSW	1	81336599	missense	probably benign	0.15
R9193:Nyap2	UTSW	1	81297997	missense	probably damaging	0.97
R9210:Nyap2	UTSW	1	81241327	missense	probably damaging	1.00
R9260:Nyap2	UTSW	1	81087118	intron	probably benign
X0067:Nyap2	UTSW	1	81269319	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TGCCATTTAAGACTGGTCTGAAC -3'
(R):5'- ACGAAGTGCTAAGCTTAGTGC -3'

Sequencing Primer
(F):5'- TTTAAGACTGGTCTGAACGCTAACCC -3'
(R):5'- CTTAGTGCTGGGGTCTCGC -3'

Posted On

2014-12-29