Mutagenetix > Incidental Mutation

Incidental Mutation 'R8231:Nyap2'

637127

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 #

R8231 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81076950-81341764 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81192131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 201 (Q201L)

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: Q201L

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

SMART Domains

Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976
AA Change: Q201L

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
AA Change: Q201L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: Q201L

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,219,027	Y1687H	probably benign	Het
4930548H24Rik	T	A	5: 31,486,207	C94S	probably benign	Het
Abcg8	C	T	17: 84,692,785	R258C	probably damaging	Het
Acsf2	C	G	11: 94,561,362	E451D	probably benign	Het
Adam34	A	T	8: 43,651,622	S329T	probably benign	Het
Adamts16	A	G	13: 70,777,480	I535T	probably damaging	Het
Atp6v0d2	A	G	4: 19,881,451	F214S	probably damaging	Het
Btg4	A	G	9: 51,116,568	T13A	possibly damaging	Het
Csmd1	A	T	8: 16,697,923	S271T	possibly damaging	Het
Cul9	T	C	17: 46,520,501	T1596A	probably damaging	Het
Cyp2a4	G	A	7: 26,312,937	D382N	probably benign	Het
Dbh	C	T	2: 27,170,543	R244C	probably benign	Het
Dnajc2	T	C	5: 21,761,691	K426R	probably benign	Het
Dock4	T	A	12: 40,702,951	M428K	possibly damaging	Het
Duox2	A	T	2: 122,289,563	M822K	possibly damaging	Het
E330009J07Rik	A	T	6: 40,418,612	H187Q	probably benign	Het
Golga5	T	C	12: 102,472,299	V91A	probably benign	Het
Gpatch2l	T	C	12: 86,244,189	S49P	probably damaging	Het
Ints7	T	A	1: 191,596,353	L246*	probably null	Het
Kntc1	A	G	5: 123,782,896	T926A	possibly damaging	Het
Kyat1	T	C	2: 30,191,966	T54A	probably benign	Het
Megf6	C	G	4: 154,252,518	C359W	probably damaging	Het
Mlh3	A	G	12: 85,260,798		probably null	Het
Neb	C	A	2: 52,235,479		probably null	Het
Pibf1	T	G	14: 99,186,561	H523Q	probably benign	Het
Piezo1	A	G	8: 122,506,097	S133P		Het
Pnmal2	T	C	7: 16,946,590	C500R	probably benign	Het
Ptpra	A	G	2: 130,537,603	N359S	probably damaging	Het
Rce1	A	T	19: 4,625,050	I112N	probably damaging	Het
Rmdn1	T	C	4: 19,586,853	Y104H	probably benign	Het
Snx22	A	T	9: 66,068,198	D96E	probably benign	Het
Sox5	G	T	6: 144,028,288	Q245K	probably damaging	Het
Stat6	A	G	10: 127,646,973	D21G	possibly damaging	Het
Tbc1d15	T	C	10: 115,229,140	Y180C	probably damaging	Het
Tdrd6	T	C	17: 43,622,135	T2058A	probably damaging	Het
Thbs4	A	T	13: 92,774,844	V277E	probably benign	Het
Tmem255b	A	G	8: 13,454,225	D139G	probably damaging	Het
Ttc27	C	A	17: 74,717,964	T18K	probably benign	Het
Zfp131	A	G	13: 119,775,812	F337L	probably 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
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
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'- CTGTGGATCACGAAGACAACC -3'
(R):5'- GTTTATACATTGCCTTGCCTGG -3'

Sequencing Primer
(F):5'- TGGATCACGAAGACAACCACCTC -3'
(R):5'- ATACATTGCCTTGCCTGGTTTTG -3'

Posted On

2020-07-13