Mutagenetix > Incidental Mutation

Incidental Mutation 'R7210:Nyap1'

560992

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

045239-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R7210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137729144-137739430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 137736244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 81 (R81L)

Ref Sequence

ENSEMBL: ENSMUSP00000113397 (fasta)

Gene Model

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

AlphaFold

Q6PFX7

Predicted Effect

probably damaging
Transcript: ENSMUST00000061789
AA Change: R81L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058217
Gene: ENSMUSG00000045348
AA Change: R81L

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: R81L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113397
Gene: ENSMUSG00000045348
AA Change: R81L

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: ENSMUST00000149512
AA Change: R81L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114694
Gene: ENSMUSG00000045348
AA Change: R81L

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: R81L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	G	A	11: 94,264,767 (GRCm39)	P194S	probably benign	Het
Ackr2	C	T	9: 121,737,943 (GRCm39)	A106V	possibly damaging	Het
Alg3	G	A	16: 20,424,644 (GRCm39)	P112L	unknown	Het
Areg	T	A	5: 91,288,764 (GRCm39)	Y23*	probably null	Het
Aspn	A	G	13: 49,719,967 (GRCm39)	T328A	probably benign	Het
B020011L13Rik	A	T	1: 117,729,241 (GRCm39)	E249D	possibly damaging	Het
Bptf	G	A	11: 106,945,290 (GRCm39)	Q2650*	probably null	Het
Btbd3	A	T	2: 138,125,664 (GRCm39)	R283W	probably damaging	Het
Cep131	T	C	11: 119,955,615 (GRCm39)	H1035R	probably damaging	Het
Cfap57	A	T	4: 118,433,900 (GRCm39)	Y959*	probably null	Het
Cnot1	T	C	8: 96,515,286 (GRCm39)	Y25C	probably damaging	Het
Crebbp	G	A	16: 3,902,121 (GRCm39)	H2373Y	possibly damaging	Het
Ctnna3	T	C	10: 64,086,547 (GRCm39)	L373P	probably damaging	Het
Cyp8b1	T	A	9: 121,744,246 (GRCm39)	D362V	probably damaging	Het
D630003M21Rik	T	A	2: 158,057,932 (GRCm39)		probably null	Het
Dpp6	T	C	5: 27,803,801 (GRCm39)	I249T	probably damaging	Het
Fam149b	T	G	14: 20,428,540 (GRCm39)	I475M	probably damaging	Het
Fat1	A	G	8: 45,476,540 (GRCm39)	Y1862C	probably damaging	Het
Fcrl5	A	T	3: 87,353,719 (GRCm39)	N355Y	possibly damaging	Het
Fgd6	C	T	10: 93,969,954 (GRCm39)	T1201I	probably damaging	Het
Fndc8	A	T	11: 82,788,692 (GRCm39)	D174V	probably damaging	Het
Gatb	A	G	3: 85,481,527 (GRCm39)	H26R	probably benign	Het
Gm37240	T	A	3: 84,405,114 (GRCm39)	T230S	probably benign	Het
Gria4	T	C	9: 4,464,135 (GRCm39)	Q609R	probably damaging	Het
Gse1	C	A	8: 120,957,441 (GRCm39)	T644K	unknown	Het
Ifit1bl1	T	G	19: 34,571,564 (GRCm39)	I298L	probably benign	Het
Il31ra	T	C	13: 112,686,034 (GRCm39)	D85G	possibly damaging	Het
Katnip	T	C	7: 125,471,411 (GRCm39)	V1504A	probably damaging	Het
Lyst	T	C	13: 13,831,568 (GRCm39)	L1664P	probably damaging	Het
Mrpl35	A	G	6: 71,794,722 (GRCm39)	L82S	possibly damaging	Het
Myo7b	G	A	18: 32,140,155 (GRCm39)	R212C	probably damaging	Het
Myom2	T	C	8: 15,154,114 (GRCm39)	V684A	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nop58	G	T	1: 59,749,539 (GRCm39)		probably null	Het
Nudt13	T	A	14: 20,359,852 (GRCm39)	I193N	possibly damaging	Het
Or1e28-ps1	T	C	11: 73,615,699 (GRCm39)	I50M	possibly damaging	Het
Oxct2b	A	C	4: 123,010,069 (GRCm39)		probably benign	Het
Pcf11	C	T	7: 92,312,684 (GRCm39)	A230T	probably benign	Het
Phactr4	A	T	4: 132,085,582 (GRCm39)	*695R	probably null	Het
Pkd1	T	C	17: 24,794,840 (GRCm39)	S2176P	probably damaging	Het
Plch2	C	A	4: 155,093,543 (GRCm39)	R133L	probably damaging	Het
Ptprq	G	T	10: 107,521,032 (GRCm39)	N713K	probably damaging	Het
Ptrh2	A	T	11: 86,580,793 (GRCm39)	T137S	probably benign	Het
R3hdm1	A	G	1: 128,138,945 (GRCm39)	Y718C	possibly damaging	Het
Rftn1	T	A	17: 50,301,335 (GRCm39)	R505*	probably null	Het
Rps15a	A	G	7: 117,708,334 (GRCm39)	F128L	probably benign	Het
Slc25a25	A	T	2: 32,310,408 (GRCm39)	M177K	possibly damaging	Het
Smgc	C	A	15: 91,744,492 (GRCm39)	P631Q	probably damaging	Het
Sox2	T	C	3: 34,705,306 (GRCm39)	S248P	probably damaging	Het
Sycp1	T	C	3: 102,760,808 (GRCm39)	K702E	probably damaging	Het
Tes	G	T	6: 17,104,761 (GRCm39)	C414F	probably damaging	Het
Tet1	A	T	10: 62,650,280 (GRCm39)	C14S	probably null	Het
Tle3	C	T	9: 61,319,587 (GRCm39)	P452S	probably damaging	Het
Tmc6	A	C	11: 117,666,670 (GRCm39)	L131R	possibly damaging	Het
Tnip3	C	T	6: 65,570,495 (GRCm39)	R30*	probably null	Het
Tnrc6b	G	T	15: 80,813,486 (GRCm39)	G1748W	probably damaging	Het
Ugt2b38	T	G	5: 87,558,284 (GRCm39)	D459A	probably damaging	Het
Zdhhc2	A	T	8: 40,920,480 (GRCm39)	R246S	probably damaging	Het
Zscan22	T	A	7: 12,640,748 (GRCm39)	C331S	probably damaging	Het

Other mutations in Nyap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Nyap1	APN	5	137,736,346 (GRCm39)	missense	probably damaging	1.00
IGL02211:Nyap1	APN	5	137,737,937 (GRCm39)	missense	probably damaging	0.99
IGL02658:Nyap1	APN	5	137,733,746 (GRCm39)	missense	probably damaging	0.99
IGL03493:Nyap1	APN	5	137,733,278 (GRCm39)	missense	probably damaging	1.00
R0180:Nyap1	UTSW	5	137,736,283 (GRCm39)	missense	probably damaging	1.00
R0731:Nyap1	UTSW	5	137,733,560 (GRCm39)	missense	probably damaging	1.00
R1215:Nyap1	UTSW	5	137,733,395 (GRCm39)	nonsense	probably null
R1741:Nyap1	UTSW	5	137,731,387 (GRCm39)	missense	probably damaging	1.00
R1953:Nyap1	UTSW	5	137,733,294 (GRCm39)	missense	probably benign	0.01
R2006:Nyap1	UTSW	5	137,733,953 (GRCm39)	missense	possibly damaging	0.81
R2131:Nyap1	UTSW	5	137,731,943 (GRCm39)	intron	probably null
R2244:Nyap1	UTSW	5	137,733,576 (GRCm39)	missense	probably damaging	1.00
R4581:Nyap1	UTSW	5	137,734,284 (GRCm39)	missense	probably damaging	1.00
R4857:Nyap1	UTSW	5	137,733,840 (GRCm39)	missense	probably damaging	0.98
R5151:Nyap1	UTSW	5	137,734,376 (GRCm39)	missense	probably damaging	0.99
R5533:Nyap1	UTSW	5	137,733,726 (GRCm39)	missense	probably benign	0.15
R5695:Nyap1	UTSW	5	137,733,246 (GRCm39)	missense	probably damaging	1.00
R7201:Nyap1	UTSW	5	137,734,524 (GRCm39)	missense	probably damaging	1.00
R7374:Nyap1	UTSW	5	137,733,791 (GRCm39)	missense	probably damaging	1.00
R7434:Nyap1	UTSW	5	137,734,530 (GRCm39)	missense	probably damaging	1.00
R7658:Nyap1	UTSW	5	137,731,236 (GRCm39)	missense	probably benign
R7870:Nyap1	UTSW	5	137,733,658 (GRCm39)	nonsense	probably null
R7913:Nyap1	UTSW	5	137,733,231 (GRCm39)	missense	probably damaging	1.00
R8278:Nyap1	UTSW	5	137,730,077 (GRCm39)	missense	probably damaging	1.00
R8422:Nyap1	UTSW	5	137,734,083 (GRCm39)	missense	probably benign	0.01
R9145:Nyap1	UTSW	5	137,736,175 (GRCm39)	missense	probably benign
R9367:Nyap1	UTSW	5	137,734,248 (GRCm39)	missense	probably damaging	1.00
R9441:Nyap1	UTSW	5	137,733,194 (GRCm39)	missense	probably benign	0.02
R9568:Nyap1	UTSW	5	137,733,394 (GRCm39)	nonsense	probably null
R9680:Nyap1	UTSW	5	137,733,840 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACCTGCTTTCTTACTTGGAGG -3'
(R):5'- CAAGGTAGAGGCTTGCCTTC -3'

Sequencing Primer
(F):5'- ACTTGGAGGTGTCTCTGCCC -3'
(R):5'- AAGGTAGAGGCTTGCCTTCTAACTTC -3'

Posted On

2019-06-26