Mutagenetix > Incidental Mutations

Incidental Mutation 'R5590:Nmnat2'

437398

Institutional Source

Beutler Lab

Gene Symbol

Nmnat2

Ensembl Gene

ENSMUSG00000042751

Gene Name

nicotinamide nucleotide adenylyltransferase 2

Synonyms

PNAT1, D030041I09Rik

MMRRC Submission

043143-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5590 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152954993-153119261 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 153094061 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 176 (G176V)

Ref Sequence

ENSEMBL: ENSMUSP00000140497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043313] [ENSMUST00000186368] [ENSMUST00000186621]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043313
AA Change: G200V

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

SMART Domains

Protein: ENSMUSP00000041110
Gene: ENSMUSG00000042751
AA Change: G200V

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_like	12	276	2e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186368
AA Change: G200V

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

SMART Domains

Protein: ENSMUSP00000140585
Gene: ENSMUSG00000042751
AA Change: G200V

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_2	12	275	2e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186621
AA Change: G176V

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

SMART Domains

Protein: ENSMUSP00000140497
Gene: ENSMUSG00000042751
AA Change: G176V

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_2	1	184	9e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190960

Meta Mutation Damage Score

0.9677

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (108/108)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap or transposon inserted allele exhibit perinatal lethality, distended bladders, atelectasis and loss of axon integrity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	C	12: 55,304,472	S189P	possibly damaging	Het
3100002H09Rik	T	G	4: 124,610,487	M91L	unknown	Het
A2m	C	T	6: 121,676,932	T1408M	probably damaging	Het
Abca16	C	T	7: 120,544,772	T1671M	probably damaging	Het
Adamts8	A	T	9: 30,951,336	N279I	probably damaging	Het
Adgre1	T	A	17: 57,445,034	I594N	probably damaging	Het
Aldh4a1	T	A	4: 139,642,104	V322E	probably damaging	Het
Atp12a	A	T	14: 56,373,380	Y327F	probably benign	Het
C4b	T	C	17: 34,740,335	T422A	probably damaging	Het
Cacna1c	A	T	6: 118,687,182	S668T	probably damaging	Het
Cchcr1	A	T	17: 35,526,680	E426D	probably damaging	Het
Ccr3	G	A	9: 124,028,793	G55D	probably damaging	Het
Cdipt	T	A	7: 126,979,532		probably null	Het
Cep19	A	G	16: 32,103,898		probably benign	Het
Cts6	T	A	13: 61,201,812	M56L	probably benign	Het
Cyp3a11	C	A	5: 145,865,977	M235I	probably benign	Het
Dnajc21	A	T	15: 10,462,277	D87E	possibly damaging	Het
Ell	A	C	8: 70,539,707	M1L	possibly damaging	Het
Esyt3	T	C	9: 99,358,413		probably benign	Het
Ets1	T	C	9: 32,728,798		probably benign	Het
Fam222b	T	A	11: 78,155,032	M473K	probably benign	Het
Fanca	T	C	8: 123,303,963		probably benign	Het
Fbrsl1	G	T	5: 110,381,618	A67D	probably damaging	Het
Fchsd1	G	A	18: 37,961,327	P622L	probably damaging	Het
Gal3st2c	T	G	1: 94,008,301		probably null	Het
Gins2	T	G	8: 120,581,747	H166P	possibly damaging	Het
Gm10118	A	T	10: 63,927,066		probably benign	Het
Gm9979	A	T	13: 40,705,813		noncoding transcript	Het
Hspbap1	A	G	16: 35,801,663	Y126C	probably damaging	Het
Hspd1	A	T	1: 55,084,769	I64N	probably damaging	Het
Igkv3-4	A	T	6: 70,672,283	S89C	probably damaging	Het
Il10ra	T	A	9: 45,265,626	K134*	probably null	Het
Il12rb1	G	A	8: 70,813,767	C252Y	possibly damaging	Het
Il24	A	T	1: 130,882,516	V201E	possibly damaging	Het
Inpp1	A	G	1: 52,794,661	I92T	probably damaging	Het
Kcnh5	T	C	12: 74,976,689	D535G	probably benign	Het
Kcnq4	T	A	4: 120,715,885	I240F	probably damaging	Het
Kctd17	G	A	15: 78,437,302		probably benign	Het
Leo1	T	A	9: 75,457,141	I521N	possibly damaging	Het
Mdga1	A	G	17: 29,839,867	L722P	probably damaging	Het
Met	G	T	6: 17,548,782	V942L	probably benign	Het
Mfn1	A	T	3: 32,563,847	T110S	probably benign	Het
Mrps15	T	C	4: 126,048,695	I79T	probably benign	Het
Mycbp2	A	C	14: 103,123,355	M4497R	probably damaging	Het
Mylk	T	A	16: 34,879,352	S362T	probably benign	Het
Mypn	A	G	10: 63,120,048	F1209L	probably benign	Het
Nab2	T	C	10: 127,664,657	S189G	probably damaging	Het
Naxe	A	C	3: 88,056,533		probably null	Het
Ncf1	A	G	5: 134,223,501	V232A	probably damaging	Het
Nell1	A	G	7: 50,279,611	Y422C	probably damaging	Het
Npr1	A	G	3: 90,454,842	S999P	probably damaging	Het
Nuak1	T	C	10: 84,375,255	D323G	probably benign	Het
Olfr1424	A	G	19: 12,059,278	V158A	probably benign	Het
Olfr191	A	G	16: 59,085,997	F162S	probably benign	Het
Olfr918	T	A	9: 38,672,965	T160S	probably damaging	Het
Osbpl8	T	C	10: 111,272,168	S342P	probably damaging	Het
Pag1	A	T	3: 9,699,422	Y224N	probably damaging	Het
Pald1	T	A	10: 61,343,710	H460L	probably damaging	Het
Per2	G	A	1: 91,427,856	Q727*	probably null	Het
Pex19	T	C	1: 172,133,212	V134A	probably benign	Het
Phlpp1	A	T	1: 106,392,927	I1551F	possibly damaging	Het
Ppef2	A	T	5: 92,239,139	V313D	probably damaging	Het
Pzp	A	C	6: 128,523,796	F153C	probably damaging	Het
Rasl11a	A	G	5: 146,845,242	H9R	probably benign	Het
Rfx3	A	T	19: 27,802,380		probably null	Het
Rmnd5b	A	T	11: 51,627,962	I68N	probably damaging	Het
Senp5	T	A	16: 31,989,513	S281C	probably damaging	Het
Sh3rf1	G	A	8: 61,361,732	E442K	probably benign	Het
Slc12a3	G	A	8: 94,345,788	V645M	probably damaging	Het
Slc22a16	T	C	10: 40,581,341	F193L	possibly damaging	Het
Slc35f1	A	T	10: 53,108,178	T345S	possibly damaging	Het
Slc9a1	G	A	4: 133,421,563	R704H	probably damaging	Het
Spta1	A	T	1: 174,175,770	Y89F	possibly damaging	Het
Sspo	A	G	6: 48,474,491	E2741G	probably damaging	Het
Strn4	G	A	7: 16,833,874		probably null	Het
Tanc2	A	G	11: 105,923,306	T1859A	probably damaging	Het
Tbc1d14	A	T	5: 36,525,045	Y3N	probably damaging	Het
Tdrd9	C	A	12: 112,051,980	R1278S	probably benign	Het
Tenm4	G	T	7: 96,797,400	A826S	possibly damaging	Het
Tenm4	C	A	7: 96,797,401	A826E	possibly damaging	Het
Tet2	C	T	3: 133,476,480		probably null	Het
Tfec	A	G	6: 16,834,200	L236P	probably benign	Het
Tjap1	A	G	17: 46,258,871	S388P	probably damaging	Het
Tle1	T	C	4: 72,124,971	T554A	possibly damaging	Het
Tmem17	G	A	11: 22,517,450	V83I	probably benign	Het
Tnrc6b	C	T	15: 80,876,502	H137Y	probably damaging	Het
Tomm5	T	C	4: 45,106,679		probably benign	Het
Top3b	T	A	16: 16,891,577		probably benign	Het
Tph1	T	C	7: 46,653,792	H254R	probably damaging	Het
Tpte	T	C	8: 22,351,452	Y487H	probably damaging	Het
Trappc13	T	A	13: 104,148,241	D241V	probably damaging	Het
Trrap	A	G	5: 144,782,265	I193V	probably benign	Het
Tspear	A	T	10: 77,870,365	H323L	probably benign	Het
Ttc39a	A	T	4: 109,432,987		probably null	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Tubg1	A	G	11: 101,124,032	D200G	probably damaging	Het
Ugdh	C	A	5: 65,422,874		probably benign	Het
Uso1	A	G	5: 92,180,608	N355D	probably benign	Het
Vamp4	T	C	1: 162,592,679		probably null	Het
Vmn2r5	T	C	3: 64,504,076	D357G	probably damaging	Het
Vps52	A	G	17: 33,961,221	T300A	probably benign	Het
Wt1	A	T	2: 105,127,284	H163L	probably damaging	Het
Xirp2	T	C	2: 67,514,035	S2207P	probably benign	Het
Xpo6	A	T	7: 126,107,078	I30N	probably damaging	Het
Zfp386	T	A	12: 116,059,727	I320K	probably benign	Het

Other mutations in Nmnat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Nmnat2	APN	1	153094117	splice site	probably null
IGL01447:Nmnat2	APN	1	153112443	missense	possibly damaging	0.50
IGL01686:Nmnat2	APN	1	153076997	splice site	probably benign
IGL01916:Nmnat2	APN	1	153094046	missense	probably damaging	0.99
R0309:Nmnat2	UTSW	1	153077001	splice site	probably benign
R1245:Nmnat2	UTSW	1	153112203	missense	probably benign	0.12
R1475:Nmnat2	UTSW	1	153074695	missense	probably damaging	1.00
R1780:Nmnat2	UTSW	1	153112440	nonsense	probably null
R2860:Nmnat2	UTSW	1	153112425	missense	probably benign
R2861:Nmnat2	UTSW	1	153112425	missense	probably benign
R2862:Nmnat2	UTSW	1	153112425	missense	probably benign
R2939:Nmnat2	UTSW	1	153074728	missense	probably damaging	1.00
R6056:Nmnat2	UTSW	1	153074734	nonsense	probably null
R6267:Nmnat2	UTSW	1	153076971	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACTATGGATACCCTGGGG -3'
(R):5'- GAACTTTCCTCCATGGTCATGTG -3'

Sequencing Primer
(F):5'- GTGGTGTTGTCAAGGCGACC -3'
(R):5'- CCATGGTCATGTGAATGAATTGCCC -3'

Posted On

2016-10-26