Mutagenetix > Incidental Mutation

Incidental Mutation 'R6658:Nrip2'

526717

Institutional Source

Beutler Lab

Gene Symbol

Nrip2

Ensembl Gene

ENSMUSG00000001520

Gene Name

nuclear receptor interacting protein 2

Synonyms

NIX1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R6658 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128374780-128386747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128385199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 210 (L210P)

Ref Sequence

ENSEMBL: ENSMUSP00000113317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001559] [ENSMUST00000001561] [ENSMUST00000120405] [ENSMUST00000123867] [ENSMUST00000142615] [ENSMUST00000204836] [ENSMUST00000203374] [ENSMUST00000204223] [ENSMUST00000203853]

AlphaFold

Q9JHR9

Predicted Effect

probably benign
Transcript: ENSMUST00000001559

SMART Domains

Protein: ENSMUSP00000001559
Gene: ENSMUSG00000001518

Domain	Start	End	E-Value	Type
Pfam:Itfg2	49	382	1e-158	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000001561

SMART Domains

Protein: ENSMUSP00000001561
Gene: ENSMUSG00000001520

Domain	Start	End	E-Value	Type
Pfam:Asp_protease	88	203	1.2e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120405
AA Change: L210P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113317
Gene: ENSMUSG00000001520
AA Change: L210P

Domain	Start	End	E-Value	Type
Pfam:Asp_protease	88	202	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123867

SMART Domains

Protein: ENSMUSP00000122558
Gene: ENSMUSG00000001520

Domain	Start	End	E-Value	Type
Pfam:Asp_protease	105	218	4.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136631

Predicted Effect

probably benign
Transcript: ENSMUST00000142615

SMART Domains

Protein: ENSMUSP00000145111
Gene: ENSMUSG00000001518

Domain	Start	End	E-Value	Type
Pfam:Itfg2	49	358	1e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147155

SMART Domains

Protein: ENSMUSP00000122305
Gene: ENSMUSG00000001520

Domain	Start	End	E-Value	Type
low complexity region	96	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204836

SMART Domains

Protein: ENSMUSP00000144750
Gene: ENSMUSG00000001520

Domain	Start	End	E-Value	Type
Pfam:Asp_protease	28	141	8.9e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203374

SMART Domains

Protein: ENSMUSP00000145323
Gene: ENSMUSG00000001518

Domain	Start	End	E-Value	Type
Pfam:Itfg2	21	350	1.3e-147	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204362

Predicted Effect

probably benign
Transcript: ENSMUST00000204223

SMART Domains

Protein: ENSMUSP00000145012
Gene: ENSMUSG00000108011

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	190	201	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203195

Predicted Effect

probably benign
Transcript: ENSMUST00000203984

Predicted Effect

probably benign
Transcript: ENSMUST00000203853

SMART Domains

Protein: ENSMUSP00000145282
Gene: ENSMUSG00000001518

Domain	Start	End	E-Value	Type
Pfam:Itfg2	49	85	3e-10	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,077,353 (GRCm39)	N1340S	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Antxr1	C	A	6: 87,261,291 (GRCm39)	R167L	probably damaging	Het
BC107364	T	C	3: 96,348,026 (GRCm39)	S88G	unknown	Het
Cfap100	T	G	6: 90,390,400 (GRCm39)	E80A	probably damaging	Het
Dhx8	C	A	11: 101,655,748 (GRCm39)	H1107Q	probably damaging	Het
Dip2c	G	A	13: 9,543,213 (GRCm39)		probably null	Het
Dpep2	A	T	8: 106,716,542 (GRCm39)	D212E	probably benign	Het
Dpep3	T	C	8: 106,705,728 (GRCm39)	T66A	probably benign	Het
Fat4	G	T	3: 38,997,077 (GRCm39)	M1765I	probably benign	Het
Gbgt1	G	A	2: 28,394,998 (GRCm39)	R212H	probably benign	Het
Gimap4	T	C	6: 48,668,338 (GRCm39)	S215P	possibly damaging	Het
Gpr161	A	T	1: 165,134,136 (GRCm39)	T133S	possibly damaging	Het
Grin2c	G	T	11: 115,149,108 (GRCm39)	S163R	possibly damaging	Het
Grip2	T	A	6: 91,763,472 (GRCm39)	N109Y	probably damaging	Het
H60c	G	A	10: 3,210,270 (GRCm39)	T93I	possibly damaging	Het
Hmgcl	A	G	4: 135,682,962 (GRCm39)	N138S	probably damaging	Het
Hoxa3	G	T	6: 52,147,058 (GRCm39)	Y398*	probably null	Het
Igkv1-132	A	G	6: 67,737,091 (GRCm39)	N19S	probably benign	Het
Ikbip	A	G	10: 90,932,181 (GRCm39)	N275S	probably benign	Het
Il7	T	A	3: 7,642,239 (GRCm39)	T33S	probably benign	Het
Iqgap2	A	T	13: 95,796,840 (GRCm39)	Y1105N	probably damaging	Het
Lmo7	A	G	14: 102,148,281 (GRCm39)	D934G	possibly damaging	Het
Mroh4	T	C	15: 74,492,978 (GRCm39)	Q310R	possibly damaging	Het
Mtmr14	C	A	6: 113,242,437 (GRCm39)	Y22*	probably null	Het
Muc5b	G	T	7: 141,422,244 (GRCm39)		probably null	Het
Naga	T	G	15: 82,214,975 (GRCm39)	K328Q	probably benign	Het
Neo1	G	A	9: 58,829,132 (GRCm39)	T589I	probably benign	Het
Nme5	A	C	18: 34,711,639 (GRCm39)	I34S	probably damaging	Het
Nup93	A	G	8: 95,030,807 (GRCm39)	D424G	probably benign	Het
Or12e9	T	C	2: 87,202,497 (GRCm39)	V207A	probably benign	Het
Or1e26	G	A	11: 73,479,874 (GRCm39)	S230F	probably damaging	Het
Papss1	T	A	3: 131,311,696 (GRCm39)	V308E	probably benign	Het
Pilrb1	T	A	5: 137,855,789 (GRCm39)	Y34F	probably benign	Het
Pira2	T	A	7: 3,845,300 (GRCm39)	E319D	probably benign	Het
Pkhd1	G	A	1: 20,682,929 (GRCm39)	T91M	probably damaging	Het
Prph2	A	G	17: 47,230,790 (GRCm39)	T228A	probably benign	Het
Ranbp17	G	T	11: 33,169,214 (GRCm39)	S1000*	probably null	Het
Rbm27	A	C	18: 42,457,178 (GRCm39)	H651P	probably damaging	Het
Scyl2	A	T	10: 89,476,835 (GRCm39)	D763E	probably benign	Het
Sltm	A	G	9: 70,488,644 (GRCm39)	Y598C	probably damaging	Het
Smc2	A	T	4: 52,451,322 (GRCm39)	K322I	probably benign	Het
Tcf4	G	A	18: 69,790,873 (GRCm39)	R271Q	probably null	Het
Tex36	C	T	7: 133,196,140 (GRCm39)	D87N	probably damaging	Het
Tex44	A	C	1: 86,354,751 (GRCm39)	H220P	probably benign	Het
Tjp1	T	C	7: 64,950,825 (GRCm39)	D1683G	possibly damaging	Het
Trav7-2	T	C	14: 53,628,573 (GRCm39)	S104P	probably damaging	Het
Trim55	C	T	3: 19,745,719 (GRCm39)	R532C	probably damaging	Het
Ube3c	T	A	5: 29,807,215 (GRCm39)	L338Q	probably damaging	Het
Ush2a	A	G	1: 188,546,556 (GRCm39)	H3444R	possibly damaging	Het
Vars1	A	G	17: 35,234,717 (GRCm39)	D1182G	probably benign	Het
Vit	T	A	17: 78,930,232 (GRCm39)	I399N	possibly damaging	Het
Vmn1r16	A	T	6: 57,300,091 (GRCm39)	L177*	probably null	Het

Other mutations in Nrip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02217:Nrip2	APN	6	128,383,502 (GRCm39)	missense	probably damaging	1.00
IGL03179:Nrip2	APN	6	128,381,938 (GRCm39)	missense	possibly damaging	0.51
R1301:Nrip2	UTSW	6	128,384,352 (GRCm39)	missense	probably benign	0.03
R1735:Nrip2	UTSW	6	128,382,037 (GRCm39)	missense	probably damaging	1.00
R1769:Nrip2	UTSW	6	128,385,231 (GRCm39)	missense	probably benign
R4926:Nrip2	UTSW	6	128,385,337 (GRCm39)	missense	probably benign	0.00
R5935:Nrip2	UTSW	6	128,385,361 (GRCm39)	missense	possibly damaging	0.96
R5990:Nrip2	UTSW	6	128,376,979 (GRCm39)	unclassified	probably benign
R6586:Nrip2	UTSW	6	128,381,911 (GRCm39)	nonsense	probably null
R7392:Nrip2	UTSW	6	128,381,913 (GRCm39)	missense	probably benign	0.00
R7573:Nrip2	UTSW	6	128,377,232 (GRCm39)	missense	probably benign	0.00
R8030:Nrip2	UTSW	6	128,383,484 (GRCm39)	missense	possibly damaging	0.93
R8352:Nrip2	UTSW	6	128,384,957 (GRCm39)	missense	probably damaging	1.00
R8452:Nrip2	UTSW	6	128,384,957 (GRCm39)	missense	probably damaging	1.00
R8963:Nrip2	UTSW	6	128,385,288 (GRCm39)	missense	possibly damaging	0.53
R9477:Nrip2	UTSW	6	128,377,145 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TACCAAGAACCTGGCCAGTG -3'
(R):5'- GGGCTGTACCTTCTAGACCAAG -3'

Sequencing Primer
(F):5'- AGTGACCACTGTCTCAGCCAG -3'
(R):5'- GTACCTTCTAGACCAAGTCCTAC -3'

Posted On

2018-07-23