Mutagenetix > Incidental Mutation

Incidental Mutation 'R9108:Nms'

692052

Institutional Source

Beutler Lab

Gene Symbol

Nms

Ensembl Gene

ENSMUSG00000067604

Gene Name

neuromedin S

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R9108 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38978230-38989357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38985147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 91 (V91A)

Ref Sequence

ENSEMBL: ENSMUSP00000085346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088029] [ENSMUST00000160214]

AlphaFold

Q5H8A1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088029
AA Change: V91A

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000085346
Gene: ENSMUSG00000067604
AA Change: V91A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160214
AA Change: V83A

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125166
Gene: ENSMUSG00000067604
AA Change: V83A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	96	107	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: This gene encodes a member of the neuromedin family of neuropeptides. The encoded protein is a precursor that is proteolytically processed to generate a biologically active neuropeptide that plays a role in the regulation of circadian rhythm, anorexigenic action, antidiuretic action, cardiovascular function and stimulation of oxytocin and vasopressin release. Mice lacking the encoded neuropeptide exhibit decreased heart rate without any accompanying changes in blood pressure. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature peptide. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	A	18: 6,638,794 (GRCm39)	V398M	probably benign	Het
4930568D16Rik	G	A	2: 35,244,942 (GRCm39)	P137S	probably damaging	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Abcg8	A	C	17: 85,000,243 (GRCm39)	I268L	probably benign	Het
Acvrl1	A	G	15: 101,039,038 (GRCm39)	Q445R	probably damaging	Het
Adam17	T	C	12: 21,380,132 (GRCm39)	N625D	probably benign	Het
Adamts9	C	T	6: 92,857,721 (GRCm39)	V856M	probably damaging	Het
Adar	T	C	3: 89,643,474 (GRCm39)	C452R	probably damaging	Het
Adgra3	G	T	5: 50,136,295 (GRCm39)	A730D	probably damaging	Het
Adnp2	C	T	18: 80,185,925 (GRCm39)	R16Q	probably damaging	Het
Aox1	T	C	1: 58,321,851 (GRCm39)	C48R	probably damaging	Het
Cabin1	T	C	10: 75,492,973 (GRCm39)	E1774G	possibly damaging	Het
Capsl	A	T	15: 9,465,910 (GRCm39)	I199F	possibly damaging	Het
Ccdc191	T	A	16: 43,718,512 (GRCm39)	D36E	possibly damaging	Het
Cep170	T	A	1: 176,616,051 (GRCm39)	K86*	probably null	Het
Cnnm1	T	C	19: 43,464,649 (GRCm39)	F736S	possibly damaging	Het
Col11a2	T	A	17: 34,276,634 (GRCm39)	V532E	probably benign	Het
Dnmt3l	T	C	10: 77,892,756 (GRCm39)		probably null	Het
Dync1h1	T	A	12: 110,622,706 (GRCm39)		probably benign	Het
Dzank1	C	A	2: 144,364,391 (GRCm39)	V69L	probably benign	Het
Epor	T	G	9: 21,870,875 (GRCm39)	E335A	probably damaging	Het
Fbxo46	A	T	7: 18,870,308 (GRCm39)	Y309F	probably damaging	Het
Fra10ac1	A	T	19: 38,202,779 (GRCm39)		probably benign	Het
Gid8	G	T	2: 180,352,132 (GRCm39)		probably benign	Het
Gm57858	T	G	3: 36,080,036 (GRCm39)	*240C	probably null	Het
Gnptab	C	T	10: 88,269,400 (GRCm39)	S701L		Het
Ifnl3	T	C	7: 28,223,704 (GRCm39)	L180P	probably benign	Het
Ikzf2	T	A	1: 69,577,956 (GRCm39)	I518F	probably damaging	Het
Ildr1	A	G	16: 36,535,919 (GRCm39)	T145A	probably benign	Het
Kiss1r	A	T	10: 79,754,336 (GRCm39)		probably benign	Het
Lhpp	A	G	7: 132,252,018 (GRCm39)	D219G	probably damaging	Het
Lrp1	A	T	10: 127,390,206 (GRCm39)	M3071K	probably damaging	Het
Map6	T	C	7: 98,986,103 (GRCm39)	L872P	probably damaging	Het
Mgst2	T	A	3: 51,589,233 (GRCm39)	L82Q	probably damaging	Het
Mier2	A	T	10: 79,377,756 (GRCm39)	V399E	probably benign	Het
Nt5dc2	T	A	14: 30,857,016 (GRCm39)	Y145*	probably null	Het
Olfml2a	A	T	2: 38,831,753 (GRCm39)	M111L	probably benign	Het
Or5p63	T	C	7: 107,810,846 (GRCm39)	N297D	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,779 (GRCm39)	L172Q	unknown	Het
Plod3	T	C	5: 137,018,017 (GRCm39)	I221T	probably damaging	Het
Polm	T	C	11: 5,779,872 (GRCm39)	Q342R	probably benign	Het
Ppp2r5c	A	T	12: 110,521,303 (GRCm39)	L275F	probably damaging	Het
Prdm12	C	T	2: 31,533,929 (GRCm39)	T182M	possibly damaging	Het
Rasgrp2	G	A	19: 6,458,890 (GRCm39)	V440M	probably damaging	Het
Rnf111	C	T	9: 70,336,846 (GRCm39)	G947D	probably damaging	Het
Runx3	A	T	4: 134,882,692 (GRCm39)	M143L	probably damaging	Het
Samd9l	T	C	6: 3,373,104 (GRCm39)	S1386G	possibly damaging	Het
Saxo2	C	T	7: 82,284,082 (GRCm39)	V259I	probably benign	Het
Shroom3	T	C	5: 93,087,975 (GRCm39)	S242P	probably damaging	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Spata31d1a	A	G	13: 59,850,982 (GRCm39)	V382A	probably benign	Het
Tanc2	T	A	11: 105,810,580 (GRCm39)		probably benign	Het
Tenm3	A	T	8: 48,766,271 (GRCm39)		probably null	Het
Trip10	C	T	17: 57,560,519 (GRCm39)	A123V	probably damaging	Het
Trmt13	A	G	3: 116,375,129 (GRCm39)	S460P	probably damaging	Het
Trpd52l3	A	G	19: 29,981,329 (GRCm39)	N28S	probably benign	Het
Tubb4a	A	G	17: 57,388,232 (GRCm39)	F265L	probably benign	Het
Uba6	A	T	5: 86,282,934 (GRCm39)	C581S	possibly damaging	Het
Uckl1	A	G	2: 181,211,293 (GRCm39)	V512A	probably damaging	Het
Usp34	A	T	11: 23,320,528 (GRCm39)	M957L		Het
Vmn2r57	T	C	7: 41,078,192 (GRCm39)	I89V	possibly damaging	Het
Zfp1005	T	A	2: 150,109,969 (GRCm39)	C220S	possibly damaging	Het
Zfp322a	T	C	13: 23,541,437 (GRCm39)	I102V	probably benign	Het
Zzef1	A	G	11: 72,790,604 (GRCm39)	D2186G	probably benign	Het

Other mutations in Nms

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:Nms	APN	1	38,985,192 (GRCm39)	missense	possibly damaging	0.92
IGL01959:Nms	APN	1	38,981,006 (GRCm39)	splice site	probably benign
IGL02088:Nms	APN	1	38,978,358 (GRCm39)	utr 5 prime	probably benign
IGL02810:Nms	APN	1	38,987,725 (GRCm39)	missense	possibly damaging	0.94
IGL03001:Nms	APN	1	38,980,993 (GRCm39)	missense	probably benign	0.12
alacrity	UTSW	1	38,980,976 (GRCm39)	missense	probably benign	0.04
R1087:Nms	UTSW	1	38,983,192 (GRCm39)	critical splice donor site	probably null
R3689:Nms	UTSW	1	38,986,075 (GRCm39)	splice site	probably benign
R4426:Nms	UTSW	1	38,978,377 (GRCm39)	missense	probably benign
R6910:Nms	UTSW	1	38,980,976 (GRCm39)	missense	probably benign	0.04
R7258:Nms	UTSW	1	38,986,051 (GRCm39)	missense	probably benign	0.01
R8848:Nms	UTSW	1	38,978,391 (GRCm39)	missense	probably benign
R9493:Nms	UTSW	1	38,980,982 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATAAACATTTCGAGCTTGGGC -3'
(R):5'- CTGGCAAAGTTAAACGACCAGTG -3'

Sequencing Primer
(F):5'- GGGCTCCGGAATTAATTTTAGTC -3'
(R):5'- AGTTAAACGACCAGTGTTTCTGCC -3'

Posted On

2021-12-30