Mutagenetix > Incidental Mutation

Incidental Mutation 'R5211:Nyap2'

403116

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

042785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81076950-81341764 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 81087274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000122935 (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: M1K

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: M1K

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: M1K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
AA Change: M1K

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: M1K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
AA Change: M1K

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: M1K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: M1K

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: M1K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: M1K

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

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	G	14: 70,156,784	S181P	probably benign	Het
Adgrf5	A	T	17: 43,422,620	T112S	probably benign	Het
Ascc2	T	C	11: 4,673,399	V545A	possibly damaging	Het
Bmp2	A	T	2: 133,554,630	S69C	probably damaging	Het
Btaf1	T	A	19: 36,996,562	I1378K	probably benign	Het
Ces2b	C	T	8: 104,835,063	T263I	possibly damaging	Het
Cntn5	A	T	9: 9,704,889	V635D	possibly damaging	Het
Dock6	T	C	9: 21,820,352	E1218G	probably benign	Het
Eml6	T	C	11: 29,854,145	I319V	probably benign	Het
Esd	T	C	14: 74,741,192	S65P	probably damaging	Het
Fam71f2	A	T	6: 29,286,099	K128*	probably null	Het
Fstl3	A	T	10: 79,780,178	Q166L	probably benign	Het
Gcn1l1	T	A	5: 115,619,312	S2445T	probably benign	Het
Gfy	C	A	7: 45,177,858	L271F	possibly damaging	Het
Gjc2	A	G	11: 59,177,458	V66A	possibly damaging	Het
Gm7271	C	A	5: 76,516,403	T113K	possibly damaging	Het
Hist1h3d	G	T	13: 23,575,841	G14C	possibly damaging	Het
Itm2c	T	A	1: 85,906,528	V188E	probably damaging	Het
Jmjd1c	C	G	10: 67,232,016	S1766C	probably damaging	Het
Kcnn3	A	G	3: 89,521,231	T255A	probably benign	Het
Kdm4d	A	C	9: 14,463,104	V486G	probably benign	Het
Krt18	T	G	15: 102,031,453	I362S	probably damaging	Het
Lrrc8d	G	A	5: 105,813,740	R672Q	probably damaging	Het
Ly6f	G	A	15: 75,271,803	V120M	probably damaging	Het
Map3k4	A	G	17: 12,232,434	V1524A	possibly damaging	Het
Mrgprh	T	C	17: 12,877,002	V43A	probably benign	Het
Mx2	A	T	16: 97,547,433	M269L	probably damaging	Het
Myrfl	C	T	10: 116,798,630	V620I	probably benign	Het
Nlrp9b	G	A	7: 20,049,456	C908Y	probably damaging	Het
Olfml3	A	T	3: 103,737,199	H51Q	probably benign	Het
Olfr745	C	T	14: 50,643,253	T324I	possibly damaging	Het
Pcdhb1	G	A	18: 37,266,651	V552I	probably benign	Het
Pm20d1	T	A	1: 131,806,909	I353N	possibly damaging	Het
Sbk2	A	G	7: 4,962,967	F73L	possibly damaging	Het
Scn10a	A	C	9: 119,661,232	L548R	possibly damaging	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Slmap	T	C	14: 26,482,962	Y68C	probably damaging	Het
Syde2	T	C	3: 146,001,338	V611A	probably benign	Het
Sympk	A	G	7: 19,035,889	M164V	probably benign	Het
Syt17	T	C	7: 118,442,403	S43G	probably benign	Het
Ubr1	T	C	2: 120,893,170	T1303A	possibly damaging	Het
Vmn2r100	A	G	17: 19,525,995	Y535C	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
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
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'- GTGTAGGACTATATGGAGATGACC -3'
(R):5'- CTCCTTCAAGTAAGCCAGGTTTGTC -3'

Sequencing Primer
(F):5'- CCACCTGATGAATTCTGGGAC -3'
(R):5'- CAAGTAAGCCAGGTTTGTCTCATTTC -3'

Posted On

2016-07-22