Mutagenetix > Incidental Mutation

Incidental Mutation 'R9260:Nyap2'

726263

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 #

R9260 (G1)

Quality Score

130.008

Status

Validated

Chromosome

Chromosomal Location

81076950-81341764 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 81087118 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120767 (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

SMART Domains

Protein: ENSMUSP00000065468
Gene: ENSMUSG00000054976

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	T	13: 66,431,316	H369Q	unknown	Het
Atp1a4	A	G	1: 172,246,792	I298T	probably damaging	Het
Bmper	T	A	9: 23,406,720	L545H	probably benign	Het
Cacnb3	A	G	15: 98,639,557	S39G	probably benign	Het
Casr	T	C	16: 36,509,964	K336R	probably benign	Het
Ccdc141	C	A	2: 77,014,451	G1424V	probably damaging	Het
Cd101	A	T	3: 101,013,283	D437E	probably benign	Het
Chadl	A	G	15: 81,693,857	S524P	probably damaging	Het
Clec4a4	C	T	6: 123,023,936	R203*	probably null	Het
Cntnap4	A	G	8: 112,773,644	I523V	probably benign	Het
Cpb1	T	A	3: 20,262,474	Y304F	probably damaging	Het
Dnajc14	T	G	10: 128,806,897	S229R	possibly damaging	Het
Dnajc15	A	G	14: 77,844,399	V101A	possibly damaging	Het
Dpyd	A	T	3: 119,314,798	Y830F	possibly damaging	Het
Ehbp1l1	A	G	19: 5,719,250	V675A	probably benign	Het
F10	G	A	8: 13,055,638	C413Y	probably damaging	Het
Fam47e	C	T	5: 92,587,525	L206F	probably damaging	Het
Fpr1	A	T	17: 17,877,744		probably benign	Het
Frem2	G	C	3: 53,652,783	S1434R	probably damaging	Het
Gli3	G	T	13: 15,725,090	V1021F	probably damaging	Het
Gm7168	A	T	17: 13,949,226	N285I	probably benign	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
Herc1	T	A	9: 66,418,409	C1388*	probably null	Het
Hfe2	T	A	3: 96,528,263	I279N	probably damaging	Het
Hikeshi	T	C	7: 89,930,568		probably benign	Het
Igfn1	T	C	1: 135,979,956	E217G	probably benign	Het
Ighv1-59	T	C	12: 115,335,117	T106A	probably benign	Het
Igkv6-23	T	A	6: 70,260,473	I95F	probably damaging	Het
Il31ra	A	T	13: 112,531,668	S456T	probably damaging	Het
Ints3	T	C	3: 90,401,161	D610G	probably damaging	Het
Iqcg	G	A	16: 33,035,603	Q201*	probably null	Het
Kat14	T	A	2: 144,393,521	D300E	probably benign	Het
Kbtbd13	T	C	9: 65,391,570	H28R	possibly damaging	Het
Kcnh2	A	T	5: 24,323,071	D866E	probably damaging	Het
Kdm4b	A	G	17: 56,394,775	T595A	probably benign	Het
Lct	C	T	1: 128,299,967	W1263*	probably null	Het
Lexm	T	C	4: 106,615,437	K84E	probably benign	Het
Micall2	T	A	5: 139,709,698	M905L	unknown	Het
Mkrn1	T	C	6: 39,405,596		probably benign	Het
Mobp	A	G	9: 120,168,506	T164A	unknown	Het
Mtrr	T	C	13: 68,580,555	E42G	possibly damaging	Het
Muc5b	T	A	7: 141,851,518	W888R	unknown	Het
Myh7	G	A	14: 54,987,385	A575V	probably damaging	Het
Nbea	A	C	3: 55,983,812	L1612W	possibly damaging	Het
Notch3	A	G	17: 32,143,242		probably null	Het
Nsun4	T	C	4: 116,044,810	Y153C	probably damaging	Het
Nup210	A	G	6: 91,062,803	I690T	probably benign	Het
Oaz1	T	A	10: 80,826,769	S4T	possibly damaging	Het
Olfr1293-ps	T	A	2: 111,527,926	V222E		Het
Olfr19	A	T	16: 16,673,473	C169*	probably null	Het
Olfr201	T	C	16: 59,269,314	M118V	probably damaging	Het
Olfr266	A	G	3: 106,822,194	S122P	probably damaging	Het
Olfr813	G	A	10: 129,856,589	V24M	probably benign	Het
Optn	C	T	2: 5,040,265	C222Y	probably benign	Het
Osmr	T	A	15: 6,852,552	H37L	probably benign	Het
Pccb	G	T	9: 100,995,590	P287Q	probably benign	Het
Pclo	T	A	5: 14,714,273	D4253E	unknown	Het
Pdcd6ip	A	T	9: 113,697,504		probably null	Het
Pde9a	T	C	17: 31,459,163		probably null	Het
Pdk2	C	A	11: 95,039,434	V59F	probably damaging	Het
Pgm2	T	A	4: 99,969,989	V362E	probably damaging	Het
Pmepa1	CCGGCGGCGGCGGCGGCGG	CCGGCGGCGGCGGCGG	2: 173,276,150		probably benign	Het
Pold4	T	C	19: 4,232,850	F97S	possibly damaging	Het
Ppp5c	C	T	7: 17,006,961	V361I	probably benign	Het
Prrt1	A	G	17: 34,631,146	Y178C	probably damaging	Het
Psmb11	A	T	14: 54,625,576	I84F	probably damaging	Het
Smg7	A	G	1: 152,861,798	S131P	probably damaging	Het
Snrnp200	T	A	2: 127,236,508	L1728Q	probably damaging	Het
Stbd1	A	T	5: 92,605,597	E315D	probably damaging	Het
Tcaf1	C	T	6: 42,686,620	G109R	possibly damaging	Het
Thap12	C	T	7: 98,707,073	R56*	probably null	Het
Ttn	T	C	2: 76,815,575	E12848G	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Uqcrfs1	G	A	13: 30,541,125	A144V	probably damaging	Het
Usp13	T	A	3: 32,901,760		probably benign	Het
Wdr19	T	A	5: 65,206,446	D67E	possibly damaging	Het
Zkscan3	A	T	13: 21,394,040	W226R	probably damaging	Het
Zmym5	A	C	14: 56,804,184	F154C	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
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
X0067:Nyap2	UTSW	1	81269319	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGCTTCACTCAAGGGAACAGAG -3'
(R):5'- CATCTTGGATGGTATCATGGAGACAG -3'

Sequencing Primer
(F):5'- GCTCTTACTCACCATAACTTAAATGC -3'
(R):5'- GGAGACAGGATGCTTTCTGC -3'

Posted On

2022-09-14