Mutagenetix > Incidental Mutation

Incidental Mutation 'R5882:Nit2'

454489

Institutional Source

Beutler Lab

Gene Symbol

Nit2

Ensembl Gene

ENSMUSG00000022751

Gene Name

nitrilase family, member 2

Synonyms

1190017B19Rik, D16Ertd502e

MMRRC Submission

043236-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.582) question?

Stock #

R5882 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56977028-56987695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56979829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 132 (D132G)

Ref Sequence

ENSEMBL: ENSMUSP00000155971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023432] [ENSMUST00000166897] [ENSMUST00000231423] [ENSMUST00000231733] [ENSMUST00000231934]

AlphaFold

Q9JHW2

Predicted Effect

probably benign
Transcript: ENSMUST00000023432
AA Change: D212G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023432
Gene: ENSMUSG00000022751
AA Change: D212G

Domain	Start	End	E-Value	Type
Pfam:CN_hydrolase	5	256	3.5e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166897

SMART Domains

Protein: ENSMUSP00000129186
Gene: ENSMUSG00000022752

Domain	Start	End	E-Value	Type
low complexity region	2	37	N/A	INTRINSIC
low complexity region	45	61	N/A	INTRINSIC
low complexity region	64	75	N/A	INTRINSIC
low complexity region	98	108	N/A	INTRINSIC
TPR	117	150	1.04e-7	SMART
TPR	156	189	1.97e-3	SMART
TPR	190	223	1.6e1	SMART
low complexity region	278	291	N/A	INTRINSIC
TPR	332	365	1.17e1	SMART
TPR	370	403	3.5e0	SMART
TPR	404	437	3.32e-1	SMART
TPR	445	478	7.49e1	SMART
TPR	479	512	9.39e-1	SMART
TPR	513	547	9.48e1	SMART
TPR	548	581	4.03e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000231423
AA Change: D133G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000231733
AA Change: D132G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231901

Predicted Effect

probably benign
Transcript: ENSMUST00000231934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232662

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.5%
20x: 86.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7e	T	A	15: 77,602,447 (GRCm39)	H348Q	probably benign	Het
Cacna1g	T	A	11: 94,350,645 (GRCm39)	E400V	probably damaging	Het
Cyp2j6	T	A	4: 96,423,839 (GRCm39)	K176N	probably benign	Het
Dcaf4	T	C	12: 83,586,203 (GRCm39)	V377A	probably damaging	Het
Dennd1a	A	G	2: 37,851,675 (GRCm39)	L71P	probably damaging	Het
Dmbx1	G	T	4: 115,777,498 (GRCm39)	R117S	probably damaging	Het
Ep400	A	G	5: 110,903,453 (GRCm39)	V382A	probably benign	Het
Kars1	G	A	8: 112,730,057 (GRCm39)	R107*	probably null	Het
Kif16b	C	T	2: 142,549,178 (GRCm39)		probably null	Het
Lrrc69	A	G	4: 14,708,690 (GRCm39)	F218S	probably damaging	Het
Myo15b	A	G	11: 115,760,422 (GRCm39)	Y1158C	probably damaging	Het
Myom1	G	C	17: 71,417,717 (GRCm39)	A1307P	probably damaging	Het
Nacad	C	T	11: 6,548,568 (GRCm39)	V1389I	possibly damaging	Het
Nln	G	T	13: 104,196,006 (GRCm39)	D60E	probably benign	Het
Oas1f	G	A	5: 120,986,316 (GRCm39)	E90K	probably damaging	Het
Obox3	A	G	7: 15,360,893 (GRCm39)	V82A	probably benign	Het
Or4k35	A	T	2: 111,100,484 (GRCm39)	V76E	probably damaging	Het
Or8b12	C	T	9: 37,657,928 (GRCm39)	T166I	probably benign	Het
Pcdhb1	A	T	18: 37,400,230 (GRCm39)	Q727L	probably benign	Het
Phactr1	G	T	13: 42,863,327 (GRCm39)		probably null	Het
Prkg1	A	T	19: 31,563,097 (GRCm39)	N116K	probably damaging	Het
Scnn1g	A	T	7: 121,366,581 (GRCm39)	S593C	possibly damaging	Het
Serpina6	T	C	12: 103,620,494 (GRCm39)	N85S	probably benign	Het
Spock3	A	G	8: 63,596,965 (GRCm39)	T93A	probably benign	Het
St7	T	C	6: 17,846,248 (GRCm39)	L121P	probably damaging	Het
Stoml2	G	C	4: 43,031,003 (GRCm39)	R57G	probably damaging	Het
Tdrd1	C	T	19: 56,837,371 (GRCm39)	R532C	probably damaging	Het
Tmc5	A	G	7: 118,254,142 (GRCm39)	N660S	probably damaging	Het
Tmem38a	A	G	8: 73,339,731 (GRCm39)	H233R	probably damaging	Het
Trp53bp2	T	C	1: 182,269,777 (GRCm39)	V304A	possibly damaging	Het
Ush1g	C	A	11: 115,209,368 (GRCm39)	M275I	probably damaging	Het
Zfp882	A	T	8: 72,667,303 (GRCm39)		probably null	Het
Zim1	A	T	7: 6,685,737 (GRCm39)		probably null	Het

Other mutations in Nit2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02438:Nit2	APN	16	56,981,511 (GRCm39)	nonsense	probably null
R1911:Nit2	UTSW	16	56,982,046 (GRCm39)	intron	probably benign
R2128:Nit2	UTSW	16	56,981,559 (GRCm39)	missense	possibly damaging	0.54
R4235:Nit2	UTSW	16	56,977,523 (GRCm39)	missense	probably benign	0.00
R5270:Nit2	UTSW	16	56,977,494 (GRCm39)	missense	probably damaging	1.00
R5806:Nit2	UTSW	16	56,982,056 (GRCm39)	missense	possibly damaging	0.88
R6710:Nit2	UTSW	16	56,980,493 (GRCm39)	missense	possibly damaging	0.49
R8765:Nit2	UTSW	16	56,979,832 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACACTTGAGCAAGCAGGATC -3'
(R):5'- TCTTGCTCATTCCAATGTACAGAG -3'

Sequencing Primer
(F):5'- AGCAAGCAGGATCCGCTTTC -3'
(R):5'- CAATGTACAGAGGCCTTTTCG -3'

Posted On

2017-02-10