Mutagenetix > Incidental Mutation

Incidental Mutation 'R8720:Nps'

670071

Institutional Source

Beutler Lab

Gene Symbol

Nps

Ensembl Gene

ENSMUSG00000073804

Gene Name

neuropeptide S

Synonyms

ENSMUSG00000073804

MMRRC Submission

068571-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8720 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134870348-134874671 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134874045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 72 (R72C)

Ref Sequence

ENSEMBL: ENSMUSP00000095597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097983] [ENSMUST00000210697] [ENSMUST00000210907]

AlphaFold

P0C0P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000097983
AA Change: R72C

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

SMART Domains

Protein: ENSMUSP00000095597
Gene: ENSMUSG00000073804
AA Change: R72C

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Neuropeptide_S	24	88	1.3e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000210697
AA Change: R55C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210907
AA Change: R55C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	T	C	11: 61,104,305 (GRCm39)	V64A	probably benign	Het
Anln	T	C	9: 22,284,573 (GRCm39)	H379R	probably benign	Het
Asb2	A	G	12: 103,291,680 (GRCm39)	Y416H	probably damaging	Het
Atp2b4	TTCTTC	TTCTTCGTCTTC	1: 133,629,465 (GRCm39)		probably benign	Het
Chsy1	T	A	7: 65,821,088 (GRCm39)	M441K	possibly damaging	Het
Cmas	A	G	6: 142,716,929 (GRCm39)	K274E	probably damaging	Het
Cmip	A	G	8: 118,138,010 (GRCm39)	Y75C	probably damaging	Het
Col17a1	T	A	19: 47,637,531 (GRCm39)		probably benign	Het
Col3a1	A	G	1: 45,386,893 (GRCm39)	Y1368C	unknown	Het
Cracdl	A	G	1: 37,652,522 (GRCm39)	F1095S	possibly damaging	Het
Cspg4	C	T	9: 56,794,797 (GRCm39)	T844I	probably benign	Het
Dnai7	G	T	6: 145,150,983 (GRCm39)	R30S	unknown	Het
Ect2	A	T	3: 27,169,647 (GRCm39)	N766K	probably damaging	Het
Fanci	C	A	7: 79,089,425 (GRCm39)	Q954K	possibly damaging	Het
Gm30083	A	G	14: 33,736,895 (GRCm39)	S21P	probably benign	Het
Gulo	C	T	14: 66,225,074 (GRCm39)	E422K	probably benign	Het
Helq	A	G	5: 100,914,561 (GRCm39)	V977A	probably damaging	Het
Herc1	A	G	9: 66,389,105 (GRCm39)	D3874G	probably benign	Het
Hsf4	G	T	8: 105,996,605 (GRCm39)	D34Y	probably damaging	Het
Il18	G	A	9: 50,476,684 (GRCm39)		probably benign	Het
Il22ra2	A	T	10: 19,508,599 (GRCm39)	E209V	probably damaging	Het
Ino80	A	T	2: 119,232,868 (GRCm39)	L1150Q	probably damaging	Het
Kif16b	A	G	2: 142,691,792 (GRCm39)	F231L	probably damaging	Het
Krtap19-4	A	G	16: 88,681,846 (GRCm39)	Y37H	unknown	Het
Lama4	A	T	10: 38,971,079 (GRCm39)	D1548V	probably damaging	Het
Lrig2	C	T	3: 104,418,998 (GRCm39)	A4T	probably damaging	Het
Lrp4	A	T	2: 91,324,459 (GRCm39)	I1265F	probably damaging	Het
Muc16	T	A	9: 18,552,896 (GRCm39)	T4466S	probably benign	Het
Myo1e	A	G	9: 70,204,570 (GRCm39)	I57V	possibly damaging	Het
Naip2	A	T	13: 100,298,630 (GRCm39)	Y469N	probably benign	Het
Nav1	G	A	1: 135,388,464 (GRCm39)	R1065C	unknown	Het
Nup210l	G	A	3: 90,117,681 (GRCm39)	V1796I	probably benign	Het
Pdzd7	T	C	19: 45,024,667 (GRCm39)	K451E	probably benign	Het
Pigv	A	T	4: 133,392,968 (GRCm39)	D67E	probably damaging	Het
Pik3cg	A	T	12: 32,243,688 (GRCm39)	F928I	probably benign	Het
Pkn3	A	G	2: 29,975,196 (GRCm39)	N486D	probably benign	Het
Ppp2r3d	A	G	9: 101,089,084 (GRCm39)	L413P	probably damaging	Het
Rbm45	G	T	2: 76,210,711 (GRCm39)	R414L	probably damaging	Het
Sap30l	A	T	11: 57,698,875 (GRCm39)	N116I	probably damaging	Het
Slc17a5	A	T	9: 78,485,945 (GRCm39)	F47I	probably damaging	Het
Slco1a7	A	T	6: 141,668,852 (GRCm39)	S527T	probably benign	Het
Srbd1	A	T	17: 86,358,571 (GRCm39)	D659E	probably damaging	Het
Sycp3	A	G	10: 88,298,394 (GRCm39)	Q40R	probably benign	Het
Trip13	T	C	13: 74,063,590 (GRCm39)	S374G	probably benign	Het
Ubr4	T	C	4: 139,208,149 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,090,715 (GRCm39)	V449I	probably benign	Het
Vmn1r211	A	T	13: 23,036,031 (GRCm39)	V212D	probably damaging	Het
Vmn2r111	T	A	17: 22,792,194 (GRCm39)	I21F	possibly damaging	Het
Zmiz2	A	T	11: 6,349,904 (GRCm39)	I491F	possibly damaging	Het

Other mutations in Nps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01998:Nps	APN	7	134,870,481 (GRCm39)	splice site	probably benign
IGL03164:Nps	APN	7	134,874,039 (GRCm39)	missense	probably damaging	1.00
R3157:Nps	UTSW	7	134,873,989 (GRCm39)	missense	probably benign	0.21
R4785:Nps	UTSW	7	134,870,517 (GRCm39)	missense	probably damaging	1.00
R5426:Nps	UTSW	7	134,870,376 (GRCm39)	critical splice donor site	probably null
R7205:Nps	UTSW	7	134,870,510 (GRCm39)	missense	probably damaging	1.00
R7588:Nps	UTSW	7	134,870,508 (GRCm39)	missense	probably benign	0.00
R8364:Nps	UTSW	7	134,870,543 (GRCm39)	missense	probably benign	0.01
R8507:Nps	UTSW	7	134,874,079 (GRCm39)	missense	probably damaging	1.00
R8510:Nps	UTSW	7	134,874,079 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCGAGTGGATAGCCTTGAG -3'
(R):5'- ATTTACTCTGAGCCCGTTAGG -3'

Sequencing Primer
(F):5'- CTGGGAAGCCTGATTACT -3'
(R):5'- ATTTACTCTGAGCCCGTTAGGAGAAG -3'

Posted On

2021-04-30