Mutagenetix > Incidental Mutation

Incidental Mutation 'R1914:Nyap2'

214645

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

039932-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81076950-81341764 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81191887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 120 (S120P)

Ref Sequence

ENSEMBL: ENSMUSP00000065468 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000068275
AA Change: S120P

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

SMART Domains

Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: S120P

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

possibly damaging
Transcript: ENSMUST00000113494
AA Change: S120P

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
AA Change: S120P

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: S120P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
AA Change: S120P

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

possibly damaging
Transcript: ENSMUST00000123720
AA Change: S120P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: S120P

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

possibly damaging
Transcript: ENSMUST00000137862
AA Change: S120P

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: S120P

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

0.5093

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,485,850	V618E	possibly damaging	Het
Abca6	T	C	11: 110,212,210	R852G	probably benign	Het
Akap12	G	A	10: 4,356,685	R1165H	probably benign	Het
Asxl1	T	C	2: 153,401,906	S1459P	probably damaging	Het
Bahcc1	C	T	11: 120,285,399	R1957C	probably damaging	Het
Bcar1	A	G	8: 111,715,398	V270A	probably damaging	Het
Camsap3	C	T	8: 3,604,708	R782C	probably damaging	Het
Capn15	C	A	17: 25,964,863	A215S	probably benign	Het
Casz1	T	C	4: 148,932,958	F235L	probably damaging	Het
Ccdc57	A	T	11: 120,903,308		probably benign	Het
Cdh23	A	G	10: 60,323,570	V2142A	probably damaging	Het
Cdx1	A	G	18: 61,019,898	V212A	probably benign	Het
Cep104	T	C	4: 153,989,839	L516P	possibly damaging	Het
Cep95	C	T	11: 106,814,638	T483I	probably damaging	Het
Cfap100	T	C	6: 90,412,347		probably benign	Het
Chia1	T	A	3: 106,128,559	N238K	probably benign	Het
Cntrl	T	C	2: 35,162,861	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333	F8S	probably benign	Het
Cpeb3	C	T	19: 37,054,265	R579Q	probably damaging	Het
Dbh	A	G	2: 27,168,222	D134G	probably damaging	Het
Diaph3	A	C	14: 86,656,485	N29K	probably damaging	Het
Dnajc2	A	G	5: 21,781,319		probably null	Het
Ephb1	C	T	9: 101,929,378	C819Y	probably damaging	Het
Eps8l2	G	A	7: 141,361,852	V650M	probably damaging	Het
Erlin1	T	C	19: 44,059,065	Y139C	probably damaging	Het
Fezf2	A	T	14: 12,343,988	V301E	probably damaging	Het
Fnbp4	T	C	2: 90,779,193		probably benign	Het
Gal3st4	T	A	5: 138,265,410	K442N	probably benign	Het
Gas6	T	C	8: 13,477,152	T199A	probably benign	Het
Gm10644	G	A	8: 83,933,850		probably benign	Het
Gpr88	G	T	3: 116,252,424	S79R	possibly damaging	Het
Grm4	A	T	17: 27,434,712	C755S	probably damaging	Het
Hdgfl2	A	G	17: 56,096,978	D278G	probably damaging	Het
Heatr5a	G	T	12: 51,905,467	A1130E	probably damaging	Het
Heatr9	T	G	11: 83,518,209	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,322,294	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,193,521	T21A	probably damaging	Het
Ing1	T	A	8: 11,561,577	V63E	probably damaging	Het
Irf4	A	T	13: 30,761,462	Q397L	probably benign	Het
Itgae	T	A	11: 73,118,643		probably benign	Het
Jrkl	A	T	9: 13,245,604	D17E	possibly damaging	Het
Kcnh6	T	A	11: 106,017,444	Y295*	probably null	Het
Klf5	T	C	14: 99,301,921	S177P	probably benign	Het
Lats1	T	A	10: 7,710,457		probably benign	Het
Lilrb4a	A	G	10: 51,491,949	I53M	probably benign	Het
Lrrc2	T	A	9: 110,980,939	Y348N	probably damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Med25	A	G	7: 44,884,622	S245P	probably benign	Het
Mlh3	T	C	12: 85,261,668	Y1115C	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myh10	T	C	11: 68,790,208	L1025P	probably damaging	Het
Myof	T	A	19: 37,977,693	N393I	probably damaging	Het
Naip6	T	A	13: 100,299,428	E862D	probably benign	Het
Ncald	C	T	15: 37,397,080	A119T	probably benign	Het
Nipbl	T	C	15: 8,343,630	E1044G	possibly damaging	Het
Oas1a	A	T	5: 120,905,813	N85K	possibly damaging	Het
Olfr870	T	C	9: 20,171,028	Y181C	probably benign	Het
Pappa2	A	T	1: 158,750,563	D1721E	probably damaging	Het
Pcid2	A	T	8: 13,094,141		probably null	Het
Pou2f2	C	T	7: 25,100,156	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,693,068	L212P	probably damaging	Het
Ptbp3	A	T	4: 59,517,635	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,302,322	Q145L	probably benign	Het
Pudp	T	C	18: 50,568,207	N152D	probably benign	Het
Rabggta	A	T	14: 55,721,189	F62L	possibly damaging	Het
Rasal3	G	A	17: 32,396,350	Q505*	probably null	Het
Rbm20	T	A	19: 53,864,087	L1166Q	probably damaging	Het
Rictor	T	G	15: 6,759,572	I223R	probably damaging	Het
Ripor1	A	T	8: 105,616,886	E270D	probably damaging	Het
Rorc	T	C	3: 94,391,173	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,232,924	D1116G	probably benign	Het
Rsph4a	A	T	10: 33,913,072	N638Y	probably damaging	Het
Scn9a	A	G	2: 66,566,250	F100L	probably damaging	Het
Siglece	A	G	7: 43,657,795	V256A	probably benign	Het
Slc23a2	A	T	2: 132,056,766	L617Q	probably damaging	Het
Snx9	T	C	17: 5,928,256	I567T	possibly damaging	Het
Sptan1	C	G	2: 30,011,036	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,147,705	V81I	probably benign	Het
Sugp2	T	A	8: 70,253,660	I790K	probably damaging	Het
Syde2	T	G	3: 146,014,316	Y764*	probably null	Het
Tbl1xr1	T	C	3: 22,190,910		probably benign	Het
Tmem130	A	G	5: 144,737,856	F353S	probably damaging	Het
Tmem131	T	A	1: 36,796,266	K1591N	probably damaging	Het
Trim43c	T	A	9: 88,840,617	D105E	probably benign	Het
Urb2	C	A	8: 124,029,798	T748K	possibly damaging	Het
Vmn2r18	T	C	5: 151,575,821	N393D	probably benign	Het
Zfp292	G	A	4: 34,805,100	S2648F	possibly damaging	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
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
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'- CTGCGTTTCTCCTCACAAGTGG -3'
(R):5'- GGTGTCCTGAAGTTGAAGCC -3'

Sequencing Primer
(F):5'- CACAAGTGGTCTTTGCTTTGTC -3'
(R):5'- CAGGAACGGTGAATTTACCTTCTGC -3'

Posted On

2014-07-14