Mutagenetix > Incidental Mutation

Incidental Mutation 'R5444:Nnat'

427317

Institutional Source

Beutler Lab

Gene Symbol

Nnat

Ensembl Gene

ENSMUSG00000067786

Gene Name

neuronatin

Synonyms

Peg5, 5730414I02Rik

MMRRC Submission

043009-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5444 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

157401998-157404442 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 157403137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 26 (F26S)

Ref Sequence

ENSEMBL: ENSMUSP00000105152 (fasta)

Gene Model

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

AlphaFold

Q61979

Predicted Effect

probably benign
Transcript: ENSMUST00000088484

SMART Domains

Protein: ENSMUSP00000085836
Gene: ENSMUSG00000067786

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

possibly damaging
Transcript: ENSMUST00000109526
AA Change: F26S

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105152
Gene: ENSMUSG00000067786
AA Change: F26S

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: ENSMUST00000131902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152605

Predicted Effect

probably benign
Transcript: ENSMUST00000173595
AA Change: F26S

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133397
Gene: ENSMUSG00000067786
AA Change: F26S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173839
AA Change: F26S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133394
Gene: ENSMUSG00000067786
AA Change: F26S

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

Predicted Effect

silent
Transcript: ENSMUST00000173041

SMART Domains

Protein: ENSMUSP00000134109
Gene: ENSMUSG00000067786

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

Predicted Effect

silent
Transcript: ENSMUST00000173793

SMART Domains

Protein: ENSMUSP00000133487
Gene: ENSMUSG00000067786

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: ENSMUST00000153739

SMART Domains

Protein: ENSMUSP00000129821
Gene: ENSMUSG00000067786

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

Meta Mutation Damage Score

0.1372

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (66/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	G	5: 26,684,735 (GRCm39)		noncoding transcript	Het
Adam11	A	G	11: 102,663,674 (GRCm39)	Q284R	probably damaging	Het
Adamts17	T	A	7: 66,691,647 (GRCm39)	H610Q	probably benign	Het
Alg6	A	G	4: 99,629,816 (GRCm39)	Y131C	probably benign	Het
Apol9b	T	C	15: 77,619,963 (GRCm39)	I253T	probably damaging	Het
Asb4	T	A	6: 5,431,040 (GRCm39)	I425N	probably damaging	Het
Atic	T	C	1: 71,615,876 (GRCm39)	L474P	probably damaging	Het
B3glct	C	T	5: 149,669,985 (GRCm39)	T318I	probably damaging	Het
Bbs7	T	C	3: 36,666,199 (GRCm39)	K22E	possibly damaging	Het
Cdk17	T	G	10: 93,053,823 (GRCm39)		probably null	Het
Cemip	T	A	7: 83,631,499 (GRCm39)	T438S	probably damaging	Het
Chd2	T	C	7: 73,122,833 (GRCm39)	E967G	probably damaging	Het
Cyp2d26	G	T	15: 82,676,739 (GRCm39)	D202E	probably benign	Het
Dhdds	G	A	4: 133,698,447 (GRCm39)	R295*	probably null	Het
Eef2kmt	G	A	16: 5,066,959 (GRCm39)		probably benign	Het
Fn3krp	G	A	11: 121,312,430 (GRCm39)		probably null	Het
Gjc3	G	A	5: 137,955,809 (GRCm39)	L159F	probably damaging	Het
Gm28434	T	C	5: 88,127,147 (GRCm39)		probably benign	Het
Gp2	G	A	7: 119,053,821 (GRCm39)	P47S	possibly damaging	Het
Irf7	C	T	7: 140,844,732 (GRCm39)		probably benign	Het
Itgb8	T	C	12: 119,201,573 (GRCm39)		probably benign	Het
Kcnb2	A	T	1: 15,781,716 (GRCm39)	I863F	probably benign	Het
Lamb1	T	C	12: 31,348,908 (GRCm39)	F647L	possibly damaging	Het
Mccc1	T	A	3: 36,030,891 (GRCm39)	M392L	probably benign	Het
Mtmr10	T	C	7: 63,938,149 (GRCm39)		probably null	Het
Ncstn	A	C	1: 171,900,406 (GRCm39)	V223G	possibly damaging	Het
Neurl3	G	T	1: 36,308,571 (GRCm39)	F80L	probably damaging	Het
Nf1	T	C	11: 79,334,785 (GRCm39)	M869T	possibly damaging	Het
Nfatc2	A	G	2: 168,376,810 (GRCm39)		probably benign	Het
Nos1ap	T	C	1: 170,202,820 (GRCm39)	Y109C	probably damaging	Het
Nup205	T	A	6: 35,166,124 (GRCm39)	D194E	probably damaging	Het
Or10ak11	T	A	4: 118,687,308 (GRCm39)	I109L	probably benign	Het
Or3a4	T	C	11: 73,944,803 (GRCm39)	S261G	probably benign	Het
Or52k2	C	T	7: 102,254,076 (GRCm39)	R172*	probably null	Het
Or5b109	A	T	19: 13,212,322 (GRCm39)	Q236L	probably benign	Het
Or9g3	A	T	2: 85,590,263 (GRCm39)	F152L	probably benign	Het
Ostf1	A	G	19: 18,558,677 (GRCm39)	L202S	probably benign	Het
Pdzrn4	T	A	15: 92,668,806 (GRCm39)	M747K	probably damaging	Het
Plxnb1	A	G	9: 108,935,521 (GRCm39)	D1019G	probably benign	Het
Pnlip	A	G	19: 58,661,595 (GRCm39)	I95V	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppp1r13b	T	A	12: 111,805,122 (GRCm39)	T197S	probably benign	Het
Rasgrp3	A	T	17: 75,810,370 (GRCm39)	I357F	probably damaging	Het
Rbmxl2	G	C	7: 106,809,044 (GRCm39)	G110R	probably damaging	Het
Relch	C	T	1: 105,654,109 (GRCm39)	T826I	possibly damaging	Het
Rgs22	T	C	15: 36,015,773 (GRCm39)	D1037G	possibly damaging	Het
Rnf215	A	G	11: 4,085,843 (GRCm39)	I107M	probably benign	Het
Rybp	A	T	6: 100,264,231 (GRCm39)	M3K	probably damaging	Het
Sgo2b	T	C	8: 64,379,590 (GRCm39)	S1081G	possibly damaging	Het
Slfn10-ps	C	T	11: 82,926,113 (GRCm39)		noncoding transcript	Het
Spag17	T	C	3: 99,963,468 (GRCm39)	V1062A	probably benign	Het
Sult2a1	A	T	7: 13,569,944 (GRCm39)	I96K	possibly damaging	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Thbs3	T	C	3: 89,130,692 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,179,066 (GRCm39)	L255S	possibly damaging	Het
Trank1	T	A	9: 111,222,026 (GRCm39)	L2921Q	probably benign	Het
Trappc14	A	T	5: 138,259,260 (GRCm39)		probably null	Het
Tuba8	A	T	6: 121,203,060 (GRCm39)		probably benign	Het
Vmn2r25	T	C	6: 123,805,451 (GRCm39)	I469V	probably benign	Het
Zfp1007	A	T	5: 109,823,502 (GRCm39)	Y649*	probably null	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
R0045:Nnat	UTSW	2	157,402,408 (GRCm39)	intron	probably benign
R4885:Nnat	UTSW	2	157,403,678 (GRCm39)	missense	probably damaging	0.97
R9603:Nnat	UTSW	2	157,403,701 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- CCGAATTGGAAACACACTAGAG -3'
(R):5'- ACAGCTTGTCCACCAGTCAG -3'

Sequencing Primer
(F):5'- CCTTGCAGGACAAAAACGG -3'
(R):5'- TTGTCCACCAGTCAGGGCAG -3'

Posted On

2016-09-01