Mutagenetix > Incidental Mutation

Incidental Mutation 'R5270:Nit2'

400241

Institutional Source

Beutler Lab

Gene Symbol

Nit2

Ensembl Gene

ENSMUSG00000022751

Gene Name

nitrilase family, member 2

Synonyms

1190017B19Rik, D16Ertd502e

MMRRC Submission

042835-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.582) question?

Stock #

R5270 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56977028-56987695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56977494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 179 (P179S)

Ref Sequence

ENSEMBL: ENSMUSP00000155971 (fasta)

Gene Model

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

AlphaFold

Q9JHW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023432
AA Change: P259S

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

SMART Domains

Protein: ENSMUSP00000023432
Gene: ENSMUSG00000022751
AA Change: P259S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231733
AA Change: P179S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231901

Predicted Effect

probably benign
Transcript: ENSMUST00000231934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232662

Meta Mutation Damage Score

0.6632

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,282,650 (GRCm39)	V585A	possibly damaging	Het
Adam6a	A	T	12: 113,507,747 (GRCm39)	H40L	possibly damaging	Het
Adamts20	G	A	15: 94,180,400 (GRCm39)	P1752S	probably benign	Het
Atp5if1	A	G	4: 132,260,611 (GRCm39)	F27L	probably damaging	Het
B230104I21Rik	A	G	4: 154,434,050 (GRCm39)		probably benign	Het
Ciz1	C	A	2: 32,264,511 (GRCm39)		probably null	Het
Crb1	T	A	1: 139,164,602 (GRCm39)	Y1174F	probably damaging	Het
Csf2rb2	A	T	15: 78,176,182 (GRCm39)		probably null	Het
Cyp3a25	A	T	5: 145,918,312 (GRCm39)	M433K	probably benign	Het
Dock4	A	G	12: 40,783,270 (GRCm39)	I735V	probably benign	Het
Dpp6	C	T	5: 27,839,532 (GRCm39)	S349L	probably damaging	Het
Epg5	T	A	18: 78,026,778 (GRCm39)	N1256K	possibly damaging	Het
Epha4	A	G	1: 77,483,244 (GRCm39)	V255A	probably damaging	Het
Gabrb1	A	T	5: 72,265,669 (GRCm39)	D155V	probably damaging	Het
Gpr35	A	T	1: 92,910,299 (GRCm39)	T4S	probably benign	Het
Hcrt	T	C	11: 100,652,823 (GRCm39)	T64A	probably damaging	Het
Henmt1	G	A	3: 108,867,530 (GRCm39)	R355H	probably benign	Het
Hrh1	C	A	6: 114,458,179 (GRCm39)	R487S	possibly damaging	Het
Ints2	T	C	11: 86,106,621 (GRCm39)	S930G	probably damaging	Het
Irs2	G	A	8: 11,056,678 (GRCm39)	Q585*	probably null	Het
Kcns1	C	A	2: 164,010,249 (GRCm39)	R170L	probably benign	Het
Kdm3b	T	C	18: 34,960,467 (GRCm39)	S1351P	probably damaging	Het
Ly9	T	C	1: 171,428,730 (GRCm39)	T297A	probably damaging	Het
M6pr	G	A	6: 122,292,048 (GRCm39)	D127N	possibly damaging	Het
Macir	T	C	1: 97,573,720 (GRCm39)	Q115R	probably damaging	Het
Nhsl3	T	C	4: 129,118,005 (GRCm39)	T208A	possibly damaging	Het
Per1	T	C	11: 68,994,424 (GRCm39)	M516T	probably benign	Het
Pkdrej	A	T	15: 85,702,528 (GRCm39)	I1136N	probably damaging	Het
Pramel27	A	G	4: 143,578,468 (GRCm39)	M243V	probably damaging	Het
Prdm9	G	T	17: 15,773,625 (GRCm39)	T257K	probably benign	Het
Prkdc	T	C	16: 15,552,819 (GRCm39)	L2085P	probably damaging	Het
Rasgrf1	A	C	9: 89,908,747 (GRCm39)	E1240D	probably benign	Het
Rrh	T	C	3: 129,606,998 (GRCm39)	I142V	probably benign	Het
Saal1	G	T	7: 46,351,157 (GRCm39)		probably benign	Het
Sdcbp2	A	G	2: 151,426,812 (GRCm39)	I70V	probably benign	Het
Skida1	C	A	2: 18,052,460 (GRCm39)	A231S	probably benign	Het
Smtnl2	T	A	11: 72,290,743 (GRCm39)	T401S	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Spag4	G	T	2: 155,907,853 (GRCm39)		probably benign	Het
Tbc1d9	A	G	8: 83,960,283 (GRCm39)	M179V	probably benign	Het
Tm9sf1	G	T	14: 55,873,938 (GRCm39)	T520N	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Vmn1r47	A	T	6: 89,999,525 (GRCm39)	Q219L	probably damaging	Het
Vmn2r104	A	T	17: 20,258,528 (GRCm39)	C539S	probably damaging	Het
Wdr17	G	T	8: 55,096,221 (GRCm39)	S1024R	probably benign	Het
Zc3h4	A	G	7: 16,168,440 (GRCm39)	T850A	unknown	Het
Zfa-ps	A	G	10: 52,419,552 (GRCm39)		noncoding transcript	Het
Zfp146	G	T	7: 29,861,900 (GRCm39)	N47K	probably benign	Het
Zfp353-ps	G	T	8: 42,534,572 (GRCm39)		noncoding transcript	Het
Zfp607a	A	T	7: 27,577,730 (GRCm39)	K267*	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
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
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'- GACCTTGTGGCACAGATCATTG -3'
(R):5'- CTGGGGCTTTGTCTCACTAG -3'

Sequencing Primer
(F):5'- GATAGAATTAACATGAAATGGCCCTG -3'
(R):5'- GTTTAGTTTGAACTGACCCAGGACC -3'

Posted On

2016-07-06