Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Nyap1'

67546

Institutional Source

Beutler Lab

Gene Symbol

Nyap1

Ensembl Gene

ENSMUSG00000045348

Gene Name

neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1

Synonyms

6430598A04Rik, Nyap1

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R0731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137729899-137741607 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137735298 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 491 (V491A)

Ref Sequence

ENSEMBL: ENSMUSP00000148318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061789] [ENSMUST00000118326] [ENSMUST00000149512] [ENSMUST00000212152]

AlphaFold

Q6PFX7

Predicted Effect

probably damaging
Transcript: ENSMUST00000061789
AA Change: V491A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058217
Gene: ENSMUSG00000045348
AA Change: V491A

Domain	Start	End	E-Value	Type
Pfam:NYAP_N	15	411	1.5e-127	PFAM
low complexity region	431	452	N/A	INTRINSIC
Pfam:NYAP_C	528	833	1.7e-180	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118326
AA Change: V491A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113397
Gene: ENSMUSG00000045348
AA Change: V491A

Domain	Start	End	E-Value	Type
Pfam:NYAP_N	15	411	1.5e-127	PFAM
low complexity region	431	452	N/A	INTRINSIC
Pfam:NYAP_C	528	833	1.7e-180	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119498
AA Change: V491A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112894
Gene: ENSMUSG00000045348
AA Change: V491A

Domain	Start	End	E-Value	Type
Pfam:NYAP_N	1	410	1.2e-104	PFAM
low complexity region	431	452	N/A	INTRINSIC
Pfam:NYAP_C	571	833	4e-115	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000149512
AA Change: V491A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114694
Gene: ENSMUSG00000045348
AA Change: V491A

Domain	Start	End	E-Value	Type
Pfam:NYAP_N	15	411	7.1e-128	PFAM
low complexity region	431	452	N/A	INTRINSIC
Pfam:NYAP_C	528	771	1.9e-121	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212152
AA Change: V491A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.1000

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Acsm3	A	T	7: 119,768,024	R27*	probably null	Het
Actg1	A	G	11: 120,346,949	F255S	probably damaging	Het
Ahdc1	T	A	4: 133,062,951	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766		probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264		probably benign	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mkrn2	A	T	6: 115,614,651	N312Y	probably damaging	Het
Mrvi1	T	C	7: 110,876,900	S615G	probably benign	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr518	A	T	7: 108,881,533	N24K	probably damaging	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcerg1	C	T	18: 42,571,840	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	Het

Other mutations in Nyap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Nyap1	APN	5	137738084	missense	probably damaging	1.00
IGL02211:Nyap1	APN	5	137739675	missense	probably damaging	0.99
IGL02658:Nyap1	APN	5	137735484	missense	probably damaging	0.99
IGL03493:Nyap1	APN	5	137735016	missense	probably damaging	1.00
R0180:Nyap1	UTSW	5	137738021	missense	probably damaging	1.00
R1215:Nyap1	UTSW	5	137735133	nonsense	probably null
R1741:Nyap1	UTSW	5	137733125	missense	probably damaging	1.00
R1953:Nyap1	UTSW	5	137735032	missense	probably benign	0.01
R2006:Nyap1	UTSW	5	137735691	missense	possibly damaging	0.81
R2131:Nyap1	UTSW	5	137733681	intron	probably null
R2244:Nyap1	UTSW	5	137735314	missense	probably damaging	1.00
R4581:Nyap1	UTSW	5	137736022	missense	probably damaging	1.00
R4857:Nyap1	UTSW	5	137735578	missense	probably damaging	0.98
R5151:Nyap1	UTSW	5	137736114	missense	probably damaging	0.99
R5533:Nyap1	UTSW	5	137735464	missense	probably benign	0.15
R5695:Nyap1	UTSW	5	137734984	missense	probably damaging	1.00
R7201:Nyap1	UTSW	5	137736262	missense	probably damaging	1.00
R7210:Nyap1	UTSW	5	137737982	missense	probably damaging	1.00
R7374:Nyap1	UTSW	5	137735529	missense	probably damaging	1.00
R7434:Nyap1	UTSW	5	137736268	missense	probably damaging	1.00
R7658:Nyap1	UTSW	5	137732974	missense	probably benign
R7870:Nyap1	UTSW	5	137735396	nonsense	probably null
R7913:Nyap1	UTSW	5	137734969	missense	probably damaging	1.00
R8278:Nyap1	UTSW	5	137731815	missense	probably damaging	1.00
R8422:Nyap1	UTSW	5	137735821	missense	probably benign	0.01
R9145:Nyap1	UTSW	5	137737913	missense	probably benign
R9367:Nyap1	UTSW	5	137735986	missense	probably damaging	1.00
R9441:Nyap1	UTSW	5	137734932	missense	probably benign	0.02
R9568:Nyap1	UTSW	5	137735132	nonsense	probably null
R9680:Nyap1	UTSW	5	137735578	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTGGCAATGACATGGGCACAG -3'
(R):5'- TCTCACAGCATGATCTGCCCCAAG -3'

Sequencing Primer
(F):5'- TGAGGCTGTCATAGGCAGG -3'
(R):5'- CCGTGTCGTACACTATGGTGTA -3'

Posted On

2013-09-03