Mutagenetix > Incidental Mutation

Incidental Mutation 'R9193:Nyap2'

697779

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 #

R9193 (G1)

Quality Score

183.009

Status

Validated

Chromosome

Chromosomal Location

81076950-81341764 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81297997 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 619 (S619P)

Ref Sequence

ENSEMBL: ENSMUSP00000120767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113494] [ENSMUST00000123285] [ENSMUST00000123720] [ENSMUST00000137862]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000113494
AA Change: S619P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109122
Gene: ENSMUSG00000054976
AA Change: S619P

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 damaging
Transcript: ENSMUST00000123285
AA Change: S619P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122935
Gene: ENSMUSG00000054976
AA Change: S619P

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 damaging
Transcript: ENSMUST00000123720
AA Change: S651P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117661
Gene: ENSMUSG00000054976
AA Change: S651P

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 damaging
Transcript: ENSMUST00000137862
AA Change: S619P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120767
Gene: ENSMUSG00000054976
AA Change: S619P

Domain	Start	End	E-Value	Type
Pfam:NYAP_N	43	416	1.4e-134	PFAM
Pfam:NYAP_C	420	647	7.7e-17	PFAM

Meta Mutation Damage Score

0.1194

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,519	D284G	probably benign	Het
Ak1	A	T	2: 32,630,379	K79M	probably benign	Het
Amy1	T	C	3: 113,562,629	K293E	probably benign	Het
Bcl2l10	A	G	9: 75,348,051	Q50R	probably benign	Het
Bpifa6	G	A	2: 153,984,820	G35D	probably benign	Het
Cachd1	C	A	4: 100,777,142	P5Q	unknown	Het
Capn13	A	T	17: 73,345,196	I266N	probably damaging	Het
Ccdc144b	G	T	3: 36,035,279	N165K	probably benign	Het
Chil3	A	G	3: 106,155,765	S170P	possibly damaging	Het
Ckap4	A	G	10: 84,527,486	I571T	probably damaging	Het
Col14a1	A	G	15: 55,379,568	M371V	unknown	Het
Dag1	A	G	9: 108,208,268	L558P	possibly damaging	Het
Edem3	G	A	1: 151,818,519	E868K	probably benign	Het
Eif3k	T	C	7: 28,974,199	Y150C	probably damaging	Het
Farp1	T	C	14: 121,280,869	I988T	probably benign	Het
Fat3	A	G	9: 15,998,952	M1918T	probably benign	Het
Gba2	A	G	4: 43,578,112	I79T	probably benign	Het
Gbp8	T	C	5: 105,031,303	D110G	probably damaging	Het
H2-Bl	A	G	17: 36,081,064	V39A	possibly damaging	Het
H2-M2	T	A	17: 37,482,537	M193L	probably benign	Het
Ighv7-1	T	A	12: 113,896,490	D94V	probably damaging	Het
Il2ra	T	C	2: 11,684,391	F244L	possibly damaging	Het
Jag1	A	T	2: 137,089,844	H602Q	probably null	Het
Kidins220	A	T	12: 24,986,967	I16F	possibly damaging	Het
Klb	A	G	5: 65,372,025	T299A	possibly damaging	Het
Lama4	A	G	10: 39,075,448	K1063R	probably benign	Het
Lrit2	A	G	14: 37,072,593	E538G	possibly damaging	Het
Lrrc7	A	T	3: 158,353,374	L32*	probably null	Het
Lrrtm3	A	T	10: 63,930,104	I568N	probably damaging	Het
Myom1	A	G	17: 71,036,300	D164G	probably damaging	Het
Naaladl2	T	C	3: 23,846,578	D696G	probably damaging	Het
Nalcn	A	T	14: 123,308,380	L1073*	probably null	Het
Nid2	T	C	14: 19,803,210	S1166P	probably damaging	Het
Nlrp4c	T	C	7: 6,092,622	V833A	probably benign	Het
Olfr1008	C	A	2: 85,690,300	Y290*	probably null	Het
Olfr1243	A	G	2: 89,527,643	Y256H	probably damaging	Het
Olfr434	A	T	6: 43,217,152	T80S	probably benign	Het
Olfr976	T	C	9: 39,956,582	M118V	probably damaging	Het
P3h2	T	C	16: 26,105,241	N148S	probably benign	Het
P4htm	A	G	9: 108,582,882	M231T	probably damaging	Het
Pank1	T	A	19: 34,827,234	K349I	possibly damaging	Het
Pgam5	A	G	5: 110,265,600	Y210H	probably benign	Het
Prl2a1	T	A	13: 27,808,552	C220S	probably damaging	Het
Prpmp5	T	C	6: 132,312,033	H276R	unknown	Het
Psca	C	T	15: 74,716,083	Q39*	probably null	Het
Rgs20	A	T	1: 5,020,844	M121K	possibly damaging	Het
S100z	C	T	13: 95,477,375	V76M	possibly damaging	Het
Slc30a10	T	C	1: 185,462,837	I282T	probably damaging	Het
Slc30a3	T	C	5: 31,088,744	Y214C	probably damaging	Het
Sox5	C	T	6: 143,844,844	E497K	probably benign	Het
Sptbn1	C	T	11: 30,137,551	E963K	possibly damaging	Het
Srl	T	C	16: 4,493,859	E465G	possibly damaging	Het
Tacc2	T	C	7: 130,626,574	M1663T	probably benign	Het
Tas2r119	T	G	15: 32,177,786	V166G	probably benign	Het
Tcf7l1	A	G	6: 72,634,222	V191A	probably damaging	Het
Thap7	A	T	16: 17,529,037	I92K	probably damaging	Het
Tnfsf10	A	G	3: 27,317,258	T38A	possibly damaging	Het
Trav7-5	C	G	14: 53,531,158	A61G	probably benign	Het
Trim30c	C	T	7: 104,382,346	V421I	probably benign	Het
Ugt2b38	A	T	5: 87,423,870	M101K	probably benign	Het
Vmn1r44	T	A	6: 89,893,583	C104S	probably damaging	Het
Wdr74	T	A	19: 8,737,876	V133E	probably damaging	Het
Zfp735	A	T	11: 73,689,774	Y33F	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
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
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'- GACTGAAGTGCCTTGGAGAACG -3'
(R):5'- ATGTGGAACTCCTCCCAGAC -3'

Sequencing Primer
(F):5'- GCCTTGGAGAACGAGTAGTTATG -3'
(R):5'- GGAACTCCTCCCAGACCCATAC -3'

Posted On

2022-02-07