Mutagenetix > Incidental Mutation

Incidental Mutation 'R6710:Nit2'

529104

Institutional Source

Beutler Lab

Gene Symbol

Nit2

Ensembl Gene

ENSMUSG00000022751

Gene Name

nitrilase family, member 2

Synonyms

1190017B19Rik, D16Ertd502e

MMRRC Submission

044828-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.582) question?

Stock #

R6710 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56977028-56987695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56980493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 95 (V95A)

Ref Sequence

ENSEMBL: ENSMUSP00000156334 (fasta)

Gene Model

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

AlphaFold

Q9JHW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023432
AA Change: V174A

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023432
Gene: ENSMUSG00000022751
AA Change: V174A

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

possibly damaging
Transcript: ENSMUST00000231423
AA Change: V95A

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000231733
AA Change: V94A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231901

Predicted Effect

probably benign
Transcript: ENSMUST00000231934
AA Change: C63R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232662

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	G	T	10: 87,061,923 (GRCm39)	E124D	probably benign	Het
Aph1c	T	C	9: 66,741,802 (GRCm39)	T27A	probably benign	Het
Ash2l	T	C	8: 26,309,740 (GRCm39)	I507V	possibly damaging	Het
Cela2a	C	A	4: 141,549,554 (GRCm39)	A74S	probably damaging	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Drc1	A	G	5: 30,520,429 (GRCm39)	D590G	possibly damaging	Het
Epn1	A	G	7: 5,100,303 (GRCm39)	E472G	probably damaging	Het
Erfe	A	G	1: 91,300,128 (GRCm39)	D318G	probably damaging	Het
Ifnar2	T	C	16: 91,190,771 (GRCm39)	C227R	probably damaging	Het
Marchf11	A	G	15: 26,387,949 (GRCm39)	Y268C	probably damaging	Het
Muc16	A	T	9: 18,553,366 (GRCm39)	I4309N	possibly damaging	Het
Nup205	T	G	6: 35,224,308 (GRCm39)	I2049S	probably benign	Het
Or2h1	T	G	17: 37,404,638 (GRCm39)	I43L	probably damaging	Het
Or7e175	C	T	9: 20,049,378 (GRCm39)	A322V	probably benign	Het
Pcdhb17	T	C	18: 37,618,452 (GRCm39)	S81P	probably damaging	Het
Plcg2	A	G	8: 118,284,086 (GRCm39)	I128V	probably benign	Het
Sem1	C	A	6: 6,578,497 (GRCm39)	E20*	probably null	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Tmem26	T	C	10: 68,559,884 (GRCm39)	L52P	probably damaging	Het
Utp3	T	C	5: 88,703,823 (GRCm39)	Y451H	probably damaging	Het
Vmn2r103	T	A	17: 20,032,239 (GRCm39)	I671N	probably damaging	Het
Zbtb39	T	A	10: 127,579,505 (GRCm39)	I693N	probably damaging	Het
Zfp174	A	G	16: 3,665,921 (GRCm39)	E62G	probably damaging	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
R5882:Nit2	UTSW	16	56,979,829 (GRCm39)	missense	probably benign	0.01
R8765:Nit2	UTSW	16	56,979,832 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACAGTACCTAGCAGAGCTCTC -3'
(R):5'- TTGACATCAGCCATCCACTG -3'

Sequencing Primer
(F):5'- GTGCAGAGTCATCCTTTCTAAGTGC -3'
(R):5'- ACTGCACTTTTCTTGTGGTCG -3'

Posted On

2018-07-24