Mutagenetix > Incidental Mutation

Incidental Mutation 'R0045:Nnat'

32742

Institutional Source

Beutler Lab

Gene Symbol

Nnat

Ensembl Gene

ENSMUSG00000067786

Gene Name

neuronatin

Synonyms

Peg5, 5730414I02Rik

MMRRC Submission

038339-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0045 (G1)

Quality Score

132

Status

Validated

Chromosome

Chromosomal Location

157401998-157404442 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 157402408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088484] [ENSMUST00000088494] [ENSMUST00000109526] [ENSMUST00000109528] [ENSMUST00000173041] [ENSMUST00000173793] [ENSMUST00000172487] [ENSMUST00000173378] [ENSMUST00000173839] [ENSMUST00000153739] [ENSMUST00000173595]

AlphaFold

Q61979

Predicted Effect

unknown
Transcript: ENSMUST00000088484
AA Change: D38V

SMART Domains

Protein: ENSMUSP00000085836
Gene: ENSMUSG00000067786
AA Change: D38V

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
low complexity region	71	80	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088494

SMART Domains

Protein: ENSMUSP00000085849
Gene: ENSMUSG00000067787

Domain	Start	End	E-Value	Type
Pfam:BC10	1	65	2.7e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104797

Predicted Effect

probably benign
Transcript: ENSMUST00000109526

SMART Domains

Protein: ENSMUSP00000105152
Gene: ENSMUSG00000067786

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109528

SMART Domains

Protein: ENSMUSP00000105154
Gene: ENSMUSG00000067787

Domain	Start	End	E-Value	Type
Pfam:BC10	1	65	2.7e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134513

Predicted Effect

unknown
Transcript: ENSMUST00000173041
AA Change: D38V

SMART Domains

Protein: ENSMUSP00000134109
Gene: ENSMUSG00000067786
AA Change: D38V

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152605

Predicted Effect

unknown
Transcript: ENSMUST00000173793
AA Change: D38V

SMART Domains

Protein: ENSMUSP00000133487
Gene: ENSMUSG00000067786
AA Change: D38V

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172487

SMART Domains

Protein: ENSMUSP00000134415
Gene: ENSMUSG00000067786

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
low complexity region	56	73	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173378

Predicted Effect

probably benign
Transcript: ENSMUST00000173839

SMART Domains

Protein: ENSMUSP00000133394
Gene: ENSMUSG00000067786

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153739

SMART Domains

Protein: ENSMUSP00000129821
Gene: ENSMUSG00000067786

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173595

SMART Domains

Protein: ENSMUSP00000133397
Gene: ENSMUSG00000067786

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	67	76	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous mice for a targeted mutation do not exhibit a detected mutant phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,220,148 (GRCm39)	N299S	probably damaging	Het
Abi3	A	G	11: 95,723,541 (GRCm39)	*368R	probably null	Het
Agbl1	T	C	7: 76,348,588 (GRCm39)		probably null	Het
Ap3b2	T	C	7: 81,115,941 (GRCm39)	D650G	possibly damaging	Het
Arhgap30	A	G	1: 171,235,998 (GRCm39)	S791G	probably benign	Het
Arvcf	T	A	16: 18,222,208 (GRCm39)	L722Q	probably benign	Het
Ascc3	C	T	10: 50,594,498 (GRCm39)	R1198*	probably null	Het
Atf2	G	T	2: 73,660,200 (GRCm39)	T189N	probably benign	Het
Atf7ip	A	G	6: 136,536,814 (GRCm39)	K16E	probably damaging	Het
Atg9b	G	T	5: 24,592,396 (GRCm39)	Q621K	probably damaging	Het
Atp12a	G	A	14: 56,610,330 (GRCm39)	E234K	probably damaging	Het
C8a	T	C	4: 104,684,012 (GRCm39)	K368E	probably benign	Het
Ccdc168	T	C	1: 44,096,365 (GRCm39)	K1578E	probably benign	Het
Cdh23	T	C	10: 60,366,757 (GRCm39)	Y241C	probably damaging	Het
Cdon	G	A	9: 35,398,103 (GRCm39)	S940N	probably benign	Het
Cds2	G	T	2: 132,147,075 (GRCm39)	G402V	possibly damaging	Het
Cog6	T	C	3: 52,900,171 (GRCm39)		probably null	Het
Commd10	T	C	18: 47,100,903 (GRCm39)	S114P	possibly damaging	Het
Dram2	T	C	3: 106,478,133 (GRCm39)	V155A	possibly damaging	Het
Egr2	T	A	10: 67,376,310 (GRCm39)	V252E	probably benign	Het
Exoc3l	C	T	8: 106,020,317 (GRCm39)	V203M	probably damaging	Het
Fsip1	C	A	2: 118,078,773 (GRCm39)		probably null	Het
Gm10840	C	A	11: 106,051,926 (GRCm39)		probably benign	Het
Gpr37l1	A	G	1: 135,088,883 (GRCm39)	L394P	probably damaging	Het
Gsap	T	C	5: 21,431,830 (GRCm39)	M243T	possibly damaging	Het
Hsd3b5	T	A	3: 98,526,460 (GRCm39)	I329F	probably benign	Het
Htra1	T	A	7: 130,563,262 (GRCm39)	S164R	probably damaging	Het
Il17b	G	A	18: 61,823,315 (GRCm39)	V50M	probably damaging	Het
Itga4	A	T	2: 79,131,375 (GRCm39)	Y581F	probably damaging	Het
Jmjd8	A	G	17: 26,048,255 (GRCm39)	E92G	probably damaging	Het
Kcnq4	T	A	4: 120,555,152 (GRCm39)	D677V	probably damaging	Het
Klhl42	A	G	6: 146,993,666 (GRCm39)	T213A	probably benign	Het
Lcn5	T	C	2: 25,550,710 (GRCm39)	S133P	probably damaging	Het
Liph	T	C	16: 21,786,803 (GRCm39)	Y271C	probably damaging	Het
Lpcat3	T	C	6: 124,678,437 (GRCm39)	I228T	probably benign	Het
Lrrd1	A	G	5: 3,916,418 (GRCm39)	K812E	possibly damaging	Het
Ltbp2	T	C	12: 84,860,062 (GRCm39)	T631A	probably damaging	Het
Ltbp2	G	A	12: 84,856,361 (GRCm39)	T701I	probably damaging	Het
Mavs	G	A	2: 131,080,751 (GRCm39)	R13Q	probably damaging	Het
Mtor	C	G	4: 148,549,406 (GRCm39)	H597D	probably benign	Het
Muc5b	T	A	7: 141,410,555 (GRCm39)	H1309Q	unknown	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Or14c40	T	C	7: 86,313,548 (GRCm39)	L226S	possibly damaging	Het
Or2ag19	T	A	7: 106,444,596 (GRCm39)	Y259*	probably null	Het
Or5h17	G	A	16: 58,820,854 (GRCm39)	D269N	probably benign	Het
Or7e175	A	T	9: 20,048,487 (GRCm39)	Q25L	probably benign	Het
Pclo	C	T	5: 14,589,485 (GRCm39)	A595V	unknown	Het
Pcsk6	T	A	7: 65,612,676 (GRCm39)	C315S	probably damaging	Het
Pkd2	T	A	5: 104,603,671 (GRCm39)		probably benign	Het
Ppp2r3c	T	A	12: 55,340,606 (GRCm39)	I155F	probably damaging	Het
Rapgef4	A	G	2: 72,029,122 (GRCm39)	H398R	possibly damaging	Het
Ripor2	A	G	13: 24,878,209 (GRCm39)	D328G	probably damaging	Het
Rpgrip1	A	T	14: 52,378,601 (GRCm39)	T509S	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,622 (GRCm39)	I1032T	probably damaging	Het
Slc25a13	A	T	6: 6,109,277 (GRCm39)	S362T	probably benign	Het
Stk35	A	T	2: 129,642,488 (GRCm39)	R10*	probably null	Het
Tal1	A	G	4: 114,925,762 (GRCm39)	D277G	probably damaging	Het
Tecta	G	A	9: 42,286,487 (GRCm39)	T723I	probably damaging	Het
Trp53bp1	A	C	2: 121,034,978 (GRCm39)	V103G	probably benign	Het
Trpv4	A	G	5: 114,774,518 (GRCm39)	S189P	probably benign	Het
Ttll5	T	G	12: 85,926,133 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,584,143 (GRCm39)	T451A	probably benign	Het
Vac14	G	A	8: 111,363,584 (GRCm39)	D340N	probably benign	Het
Vars1	C	A	17: 35,217,042 (GRCm39)	A471S	probably benign	Het
Vars1	A	T	17: 35,229,595 (GRCm39)	H404L	probably damaging	Het
Vmn2r70	T	C	7: 85,215,252 (GRCm39)	N94S	probably damaging	Het
Vpreb1b	T	C	16: 17,798,631 (GRCm39)	L39P	probably damaging	Het
Vps13a	A	T	19: 16,618,174 (GRCm39)	L693*	probably null	Het
Wapl	A	G	14: 34,455,751 (GRCm39)	I176V	probably benign	Het
Wdr31	G	T	4: 62,382,270 (GRCm39)	L4I	possibly damaging	Het

Other mutations in Nnat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02481:Nnat	APN	2	157,403,167 (GRCm39)	missense	possibly damaging	0.59
R4885:Nnat	UTSW	2	157,403,678 (GRCm39)	missense	probably damaging	0.97
R5444:Nnat	UTSW	2	157,403,137 (GRCm39)	missense	possibly damaging	0.77
R9603:Nnat	UTSW	2	157,403,701 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TCGGCAGAACTGCTCATCATCG -3'
(R):5'- TCCTAGTAAGTGCCTTTGTCTGGCT -3'

Sequencing Primer
(F):5'- GGCTGGTACATCTTCCGC -3'
(R):5'- CTGAGGAGTGCCATTTTCTAAC -3'

Posted On

2013-05-09