Mutagenetix > Incidental Mutation

Incidental Mutation 'R8078:Nyap2'

629115

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8078 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81076950-81341764 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81241057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 265 (S265G)

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

possibly damaging
Transcript: ENSMUST00000068275
AA Change: S265G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: S265G

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 benign
Transcript: ENSMUST00000113494
AA Change: S233G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
AA Change: S233G

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

possibly damaging
Transcript: ENSMUST00000123285
AA Change: S233G

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
AA Change: S233G

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 benign
Transcript: ENSMUST00000123720
AA Change: S265G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: S265G

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 benign
Transcript: ENSMUST00000137862
AA Change: S233G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: S233G

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: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.9%

Validation Efficiency

100% (63/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,301,279	V2884I	probably benign	Het
Actl10	T	A	2: 154,552,570	N147K	probably benign	Het
Agpat2	C	A	2: 26,604,101	C37F	possibly damaging	Het
Alb	G	C	5: 90,467,355	R242P	probably damaging	Het
Ankrd26	T	A	6: 118,517,893		probably null	Het
Bcas1	T	C	2: 170,418,612	E49G	possibly damaging	Het
Birc3	A	G	9: 7,858,741	V331A	probably damaging	Het
Cadm3	A	G	1: 173,341,059	V314A	probably damaging	Het
Cep290	T	C	10: 100,572,887	V2407A	probably benign	Het
Chd5	C	A	4: 152,360,991	N446K	possibly damaging	Het
Clec9a	A	G	6: 129,409,033	S27G	probably benign	Het
Coro1c	G	T	5: 113,882,103	A17E	probably damaging	Het
Cspg4	T	C	9: 56,890,259	S1336P	possibly damaging	Het
Ddx55	G	A	5: 124,566,388	V353M	probably damaging	Het
Farp1	T	A	14: 121,276,300	S836T	probably benign	Het
Fbll1	G	T	11: 35,797,901	D178E	probably benign	Het
Flg2	T	G	3: 93,200,275	D22E	probably damaging	Het
Glis1	T	A	4: 107,567,902	C237S	probably damaging	Het
Gm5519	T	C	19: 33,822,957	V17A	possibly damaging	Het
Gucy2c	C	A	6: 136,697,921	G1055C	probably damaging	Het
Hspg2	T	C	4: 137,508,022	Y123H	probably damaging	Het
Idh1	T	A	1: 65,161,066	I380F	probably damaging	Het
Il23r	A	T	6: 67,423,593	N584K	probably damaging	Het
Lama1	A	T	17: 67,791,294	T1829S		Het
Ldlrad1	G	A	4: 107,209,491	A8T	probably benign	Het
Luzp2	T	A	7: 55,052,762	Y24*	probably null	Het
Masp2	A	T	4: 148,613,778	T439S	probably benign	Het
Meioc	G	A	11: 102,668,400	W49*	probably null	Het
Mrvi1	T	C	7: 110,899,735	E363G	probably damaging	Het
Mtor	T	G	4: 148,468,287	I749S	probably benign	Het
Myo16	T	A	8: 10,562,078	V1241D	unknown	Het
Ncam2	G	T	16: 81,443,248	R199L	possibly damaging	Het
Olfr1309	T	A	2: 111,983,270	D268V	probably damaging	Het
Parp8	A	T	13: 116,924,983	F175I	probably damaging	Het
Pcnx	A	G	12: 81,975,280	T823A		Het
Phc2	T	A	4: 128,711,062	I197N	probably damaging	Het
Pla2g16	C	T	19: 7,579,161	T109I	probably benign	Het
Pot1a	T	C	6: 25,750,108	I518M	probably benign	Het
Prg2	T	A	2: 84,982,260	C105S	probably benign	Het
Rab39	A	G	9: 53,705,955	L54P	possibly damaging	Het
Rell1	T	A	5: 63,939,721		probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Slc4a4	T	C	5: 89,179,707	Y668H	probably benign	Het
Sncg	C	A	14: 34,374,770		probably benign	Het
Spata31d1b	A	G	13: 59,715,449	D137G	probably damaging	Het
Tas1r1	C	T	4: 152,028,346	G750D	probably damaging	Het
Tcea3	A	T	4: 136,254,514	D61V	probably damaging	Het
Tfap2c	T	A	2: 172,551,472	H102Q	probably damaging	Het
Tmem150a	T	A	6: 72,358,323	L95H	probably damaging	Het
Tnfrsf11a	A	T	1: 105,817,684	D149V	probably damaging	Het
Tsc22d2	C	A	3: 58,416,032	A115E	probably benign	Het
Vmn2r101	T	A	17: 19,590,245	F431Y	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r85	C	A	10: 130,429,495	E40*	probably null	Het
Zfp606	G	A	7: 12,481,015	A57T	possibly damaging	Het
Zfp760	T	C	17: 21,723,455	V537A	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
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
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'- TCAGTGTCTGCCAAGCCAAG -3'
(R):5'- TGACAAAGTCCAGGTCAGGC -3'

Sequencing Primer
(F):5'- AGACCCCACAGTGATGAATATTC -3'
(R):5'- CGAAGAGCAACTGTGATGATC -3'

Posted On

2020-06-30