Mutagenetix > Incidental Mutation

Incidental Mutation 'R4788:Nyap2'

367216

Institutional Source

Beutler Lab

Gene Symbol

Nyap2

Ensembl Gene

ENSMUSG00000054976

Gene Name

neuronal tyrosine-phophorylated phosphoinositide 3-kinase adaptor 2

Synonyms

Jr6, 9430031J16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4788 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81076950-81341764 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81269397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 687 (M687L)

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 benign
Transcript: ENSMUST00000068275
AA Change: M687L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: M687L

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

SMART Domains

Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976

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 benign
Transcript: ENSMUST00000123285

SMART Domains

Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976

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

SMART Domains

Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976

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

SMART Domains

Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976

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: 98.8%
3x: 98.4%
10x: 96.9%
20x: 94.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	T	1: 37,631,475	I128K	probably damaging	Het
Abca4	G	A	3: 122,166,712	D815N	probably damaging	Het
Abcc9	A	T	6: 142,620,730	C1135*	probably null	Het
Ap3b1	G	A	13: 94,565,641	M1067I	unknown	Het
Arhgap15	T	C	2: 43,748,890	M1T	probably null	Het
Boc	T	C	16: 44,500,433	D288G	probably damaging	Het
Brsk1	G	T	7: 4,698,955		probably null	Het
Cabp1	T	C	5: 115,175,471	N226S	probably benign	Het
Capn13	A	T	17: 73,337,432	Y367*	probably null	Het
Ccdc191	A	G	16: 43,956,822	E632G	probably damaging	Het
Cit	T	C	5: 115,933,506	S591P	probably damaging	Het
Ckmt1	T	C	2: 121,359,946	V118A	possibly damaging	Het
Cndp2	T	C	18: 84,675,164	N157S	probably damaging	Het
Col6a3	A	G	1: 90,772,950		probably null	Het
Coq2	A	T	5: 100,657,909	V287E	probably damaging	Het
Cpa6	T	C	1: 10,408,277	K278R	possibly damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Cyp3a25	A	T	5: 145,985,082	Y347*	probably null	Het
Dcun1d4	G	T	5: 73,534,628	W160L	probably damaging	Het
Dennd4c	A	G	4: 86,819,963	T994A	probably benign	Het
Dhx57	T	C	17: 80,275,331	T229A	probably benign	Het
Dnah6	T	A	6: 73,129,530	R1741S	probably damaging	Het
Dock1	T	A	7: 135,145,484	V1508D	probably damaging	Het
Donson	T	C	16: 91,687,833	T117A	possibly damaging	Het
Dtnb	A	G	12: 3,772,699	D533G	probably damaging	Het
Fcrl5	A	G	3: 87,457,188	N470S	probably damaging	Het
Focad	T	A	4: 88,357,469	V1105E	unknown	Het
Fry	T	C	5: 150,399,636	V1084A	probably benign	Het
Gabra1	G	T	11: 42,147,153	R213S	probably damaging	Het
Gbp2b	A	C	3: 142,611,410	K509T	probably benign	Het
Gprc6a	T	C	10: 51,615,008	T811A	probably benign	Het
Hmgcs2	A	G	3: 98,291,084	D101G	probably damaging	Het
Ifna11	G	A	4: 88,820,008	W17*	probably null	Het
Ighv1-62-3	T	A	12: 115,461,052	M100L	probably benign	Het
Lgmn	T	A	12: 102,402,677	Y181F	probably benign	Het
Map4k4	T	C	1: 40,003,916	S644P	probably benign	Het
Med9	T	A	11: 59,948,440	N58K	probably benign	Het
Nav1	C	T	1: 135,469,723	A903T	probably benign	Het
Nop53	T	C	7: 15,942,315	E153G	possibly damaging	Het
Nop56	G	T	2: 130,278,900	V190L	probably benign	Het
Olfr1254	G	A	2: 89,789,136	S72F	probably damaging	Het
Olfr146	T	C	9: 39,018,921	T207A	probably benign	Het
Olfr943	A	G	9: 39,184,612	T145A	probably benign	Het
Osbp2	T	C	11: 3,863,320	K183R	probably benign	Het
Pappa2	A	G	1: 158,783,917	V1492A	possibly damaging	Het
Pax1	A	G	2: 147,366,204	Q244R	possibly damaging	Het
Pcdh9	C	A	14: 93,887,415	V317F	probably damaging	Het
Pkhd1l1	A	T	15: 44,498,021	Q489L	probably damaging	Het
Poln	A	T	5: 34,129,331	S164R	probably benign	Het
Ptf1a	T	C	2: 19,445,951	S31P	probably benign	Het
Rasal3	A	T	17: 32,399,338	D164E	probably benign	Het
Rnf170	A	G	8: 26,140,863	E168G	probably damaging	Het
Rubcn	A	G	16: 32,836,408		probably null	Het
Sec16b	A	T	1: 157,561,524	T830S	possibly damaging	Het
Sel1l3	A	G	5: 53,131,833	V882A	probably benign	Het
Sfpq	A	G	4: 127,025,998	E512G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,314,079	L187P	probably damaging	Het
Skint6	C	T	4: 113,238,336	G42D	possibly damaging	Het
Slc7a2	A	G	8: 40,913,986	I526V	probably benign	Het
Spata48	T	C	11: 11,488,652		probably null	Het
Ssh2	A	T	11: 77,429,798	N328Y	probably damaging	Het
Taok2	G	A	7: 126,868,132	S167L	possibly damaging	Het
Tcrg-V5	A	G	13: 19,192,554	K57R	probably benign	Het
Tom1l2	A	G	11: 60,249,018	L275P	probably damaging	Het
Tyrp1	C	T	4: 80,844,943	R356*	probably null	Het
Zan	A	G	5: 137,442,113	L1953P	unknown	Het
Zfhx3	T	C	8: 108,794,210	S655P	probably damaging	Het
Zmym1	T	C	4: 127,054,297	T94A	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
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'- TCCTCTAGAGAGCCAGTGAAAG -3'
(R):5'- CACCACCCCTAAATTGTGCG -3'

Sequencing Primer
(F):5'- ACCTGTGGTCACCAGCAGAATG -3'
(R):5'- CGATTTTCATAAATTGCAGTGGC -3'

Posted On

2015-12-29