Mutagenetix > Incidental Mutation

Incidental Mutation 'R1911:Nit2'

210312

Institutional Source

Beutler Lab

Gene Symbol

Nit2

Ensembl Gene

ENSMUSG00000022751

Gene Name

nitrilase family, member 2

Synonyms

D16Ertd502e, 1190017B19Rik

MMRRC Submission

039929-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.487) question?

Stock #

R1911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57156665-57167341 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 57161683 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156191 (fasta)

Gene Model

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

AlphaFold

Q9JHW2

Predicted Effect

probably benign
Transcript: ENSMUST00000023432

SMART Domains

Protein: ENSMUSP00000023432
Gene: ENSMUSG00000022751

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 benign
Transcript: ENSMUST00000231733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231855

Predicted Effect

probably benign
Transcript: ENSMUST00000231934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232662

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.2%

Validation Efficiency

99% (99/100)

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,019 (GRCm38)	W144C	probably benign	Het
4930590J08Rik	T	A	6: 91,950,069 (GRCm38)		probably benign	Het
5430419D17Rik	T	C	7: 131,238,089 (GRCm38)	V580A	probably damaging	Het
Abca7	T	C	10: 80,006,634 (GRCm38)	V1134A	probably benign	Het
Acaa2	A	G	18: 74,792,412 (GRCm38)	E82G	probably benign	Het
Acap1	T	C	11: 69,881,722 (GRCm38)	D521G	probably damaging	Het
Adam19	T	C	11: 46,121,454 (GRCm38)	V259A	probably damaging	Het
Adssl1	T	C	12: 112,633,009 (GRCm38)	V140A	probably benign	Het
Aif1	G	A	17: 35,172,151 (GRCm38)	P44L	probably benign	Het
Aldh3b1	T	G	19: 3,921,187 (GRCm38)	D159A	probably damaging	Het
Ank1	T	C	8: 23,099,650 (GRCm38)	V589A	probably damaging	Het
Ano2	G	A	6: 126,013,691 (GRCm38)	D803N	probably benign	Het
Arid1b	A	G	17: 5,342,966 (GRCm38)	E2257G	probably damaging	Het
Asb17	T	C	3: 153,844,501 (GRCm38)	Y57H	probably benign	Het
Asph	T	C	4: 9,453,335 (GRCm38)	E646G	probably damaging	Het
Aspm	T	A	1: 139,478,094 (GRCm38)	I1573K	probably benign	Het
Bcas1	C	A	2: 170,387,943 (GRCm38)	D236Y	probably damaging	Het
Bcas2	G	T	3: 103,171,797 (GRCm38)	G9*	probably null	Het
Btaf1	A	G	19: 36,986,630 (GRCm38)	Q867R	probably benign	Het
C87499	T	C	4: 88,630,072 (GRCm38)	Q32R	possibly damaging	Het
Calhm3	C	T	19: 47,155,469 (GRCm38)	V132I	possibly damaging	Het
Ccer1	A	T	10: 97,694,677 (GRCm38)	I401F	possibly damaging	Het
Cecr2	T	A	6: 120,762,565 (GRCm38)		probably benign	Het
Cep104	G	A	4: 154,006,798 (GRCm38)	R925Q	possibly damaging	Het
Cep164	T	A	9: 45,770,806 (GRCm38)	M1900L	probably benign	Het
Crybg1	A	G	10: 43,997,677 (GRCm38)	V1145A	possibly damaging	Het
Cyp2a4	T	A	7: 26,308,974 (GRCm38)	N180K	possibly damaging	Het
Dennd4a	T	C	9: 64,889,086 (GRCm38)	L798P	probably damaging	Het
Dmxl1	T	C	18: 49,878,163 (GRCm38)	I1129T	probably benign	Het
Dnah2	T	C	11: 69,515,752 (GRCm38)	N555D	possibly damaging	Het
Dock1	T	A	7: 134,999,300 (GRCm38)	M988K	probably damaging	Het
Elp4	T	A	2: 105,702,743 (GRCm38)	H419L	probably damaging	Het
Endov	T	C	11: 119,502,351 (GRCm38)	V109A	possibly damaging	Het
Epha8	T	C	4: 136,936,314 (GRCm38)	Y477C	probably damaging	Het
Erlin1	A	G	19: 44,049,122 (GRCm38)	M188T	probably damaging	Het
Fam160a1	T	A	3: 85,661,218 (GRCm38)	D998V	probably benign	Het
Fhod3	A	T	18: 25,112,586 (GRCm38)	D1231V	possibly damaging	Het
Gimap3	T	A	6: 48,765,712 (GRCm38)	I95F	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm38)	F205C	probably damaging	Het
Grk1	C	A	8: 13,407,923 (GRCm38)	D274E	probably damaging	Het
Gsdmc2	G	A	15: 63,827,772 (GRCm38)	A269V	probably benign	Het
Krt33a	T	A	11: 100,012,349 (GRCm38)	Q289L	probably benign	Het
Krt76	T	A	15: 101,888,165 (GRCm38)	K403*	probably null	Het
Lcn4	T	C	2: 26,670,595 (GRCm38)		probably benign	Het
Mab21l1	T	C	3: 55,783,627 (GRCm38)	S212P	possibly damaging	Het
Mapk8ip3	A	C	17: 24,904,051 (GRCm38)	D610E	probably benign	Het
Mastl	G	T	2: 23,132,680 (GRCm38)	S677*	probably null	Het
Mfap3	T	C	11: 57,529,736 (GRCm38)	F181S	probably damaging	Het
Mlkl	T	C	8: 111,312,100 (GRCm38)		probably benign	Het
Mov10	G	A	3: 104,801,560 (GRCm38)		probably benign	Het
Muc5ac	T	C	7: 141,796,304 (GRCm38)	F595L	probably benign	Het
Nbas	T	A	12: 13,566,144 (GRCm38)	C2228S	probably benign	Het
Nod1	C	T	6: 54,944,440 (GRCm38)	V298M	probably damaging	Het
Olfr1216	A	G	2: 89,013,221 (GRCm38)	L281P	probably damaging	Het
Olfr399	C	A	11: 74,054,384 (GRCm38)	R125L	probably damaging	Het
Olfr690	T	A	7: 105,329,383 (GRCm38)	I270F	probably benign	Het
Olfr800	A	T	10: 129,660,112 (GRCm38)	D102V	probably benign	Het
Olfr834	T	C	9: 18,988,900 (GRCm38)	L304P	probably damaging	Het
Osbpl5	C	A	7: 143,689,925 (GRCm38)	R864L	probably benign	Het
Pcnt	G	A	10: 76,368,816 (GRCm38)	T2585M	possibly damaging	Het
Pepd	C	T	7: 34,934,749 (GRCm38)		probably benign	Het
Pou6f2	T	C	13: 18,151,963 (GRCm38)	I341V	probably damaging	Het
Prune2	T	A	19: 17,113,674 (GRCm38)	F281I	probably benign	Het
Psg19	T	G	7: 18,794,268 (GRCm38)	Q183H	probably damaging	Het
Psme4	T	G	11: 30,815,658 (GRCm38)	S587A	probably benign	Het
Ptpro	T	C	6: 137,400,619 (GRCm38)		probably benign	Het
Rasgrp4	T	C	7: 29,138,877 (GRCm38)	V92A	probably damaging	Het
Rem1	G	A	2: 152,634,535 (GRCm38)	V238M	probably damaging	Het
Rexo5	C	T	7: 119,799,644 (GRCm38)	A68V	probably damaging	Het
Robo2	A	T	16: 73,958,325 (GRCm38)	N769K	probably damaging	Het
Sfrp5	C	T	19: 42,198,798 (GRCm38)	V278I	probably benign	Het
Sidt1	A	G	16: 44,281,871 (GRCm38)	S309P	possibly damaging	Het
Slc22a6	A	C	19: 8,621,882 (GRCm38)	Q292H	probably benign	Het
Slc4a3	G	A	1: 75,553,723 (GRCm38)	R690H	probably damaging	Het
Snx7	A	T	3: 117,829,668 (GRCm38)		probably null	Het
Spag6	T	A	2: 18,715,805 (GRCm38)	Y129*	probably null	Het
Srcap	T	C	7: 127,534,822 (GRCm38)	I905T	probably damaging	Het
St6gal1	T	G	16: 23,321,633 (GRCm38)	S185A	probably damaging	Het
Sult6b1	G	A	17: 78,888,964 (GRCm38)	H250Y	possibly damaging	Het
Tdrd6	T	G	17: 43,627,088 (GRCm38)	N1023T	probably benign	Het
Tecta	C	T	9: 42,337,936 (GRCm38)	E1877K	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm38)	R637Q	probably benign	Het
Tex14	T	A	11: 87,495,035 (GRCm38)	D240E	probably damaging	Het
Tex47	T	C	5: 7,305,022 (GRCm38)	Y68H	probably damaging	Het
Thbs2	A	G	17: 14,689,842 (GRCm38)	V165A	probably benign	Het
Tmem126b	T	A	7: 90,469,159 (GRCm38)	Y171F	possibly damaging	Het
Tpsg1	G	T	17: 25,373,400 (GRCm38)	M46I	probably benign	Het
Trmt2a	A	G	16: 18,251,206 (GRCm38)	K304R	probably benign	Het
Ttc28	G	T	5: 111,280,750 (GRCm38)	R1845L	possibly damaging	Het
Umodl1	A	T	17: 30,992,154 (GRCm38)	T884S	possibly damaging	Het
Vmn2r77	A	G	7: 86,811,793 (GRCm38)	K776E	probably damaging	Het
Vmn2r88	T	C	14: 51,418,214 (GRCm38)	S627P	probably damaging	Het
Vrk1	T	C	12: 106,057,977 (GRCm38)		probably null	Het
Zfp644	A	G	5: 106,635,271 (GRCm38)	M1079T	possibly damaging	Het
Znrf1	T	C	8: 111,621,601 (GRCm38)	*41Q	probably null	Het
Znrf1	T	C	8: 111,621,612 (GRCm38)	F183L	possibly damaging	Het

Other mutations in Nit2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02438:Nit2	APN	16	57,161,148 (GRCm38)	nonsense	probably null
R2128:Nit2	UTSW	16	57,161,196 (GRCm38)	missense	possibly damaging	0.54
R4235:Nit2	UTSW	16	57,157,160 (GRCm38)	missense	probably benign	0.00
R5270:Nit2	UTSW	16	57,157,131 (GRCm38)	missense	probably damaging	1.00
R5806:Nit2	UTSW	16	57,161,693 (GRCm38)	missense	possibly damaging	0.88
R5882:Nit2	UTSW	16	57,159,466 (GRCm38)	missense	probably benign	0.01
R6710:Nit2	UTSW	16	57,160,130 (GRCm38)	missense	possibly damaging	0.49
R8765:Nit2	UTSW	16	57,159,469 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TATGTCAAAATCCCAGGGTTCC -3'
(R):5'- TATGGCCAAAACTGGGGATG -3'

Sequencing Primer
(F):5'- AAAATCCCAGGGTTCCATTCTC -3'
(R):5'- GCTGTCAATCTTAGAGCATGTC -3'

Posted On

2014-06-30