Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02303:Nhlrc2'

287478

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nhlrc2

Ensembl Gene

ENSMUSG00000025078

Gene Name

NHL repeat containing 2

Synonyms

1200003G01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02303

Quality Score

Status

Chromosome

Chromosomal Location

56536693-56591935 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56563280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 293 (V293E)

Ref Sequence

ENSEMBL: ENSMUSP00000071370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071423]

AlphaFold

Q8BZW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000071423
AA Change: V293E

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

SMART Domains

Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: V293E

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin_8	78	174	2.7e-14	PFAM
LY	216	258	8.44e0	SMART
Pfam:NHL	278	304	2.3e-9	PFAM
low complexity region	321	331	N/A	INTRINSIC
Blast:LY	402	446	5e-8	BLAST
LY	467	509	1.91e0	SMART
Pfam:NHL	530	558	1.2e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,045,376 (GRCm39)	F319S	probably damaging	Het
Ap3b1	A	G	13: 94,664,827 (GRCm39)	D922G	unknown	Het
Bhlhe41	A	T	6: 145,809,882 (GRCm39)	H107Q	probably damaging	Het
Csmd2	C	A	4: 128,262,801 (GRCm39)	H662Q	probably benign	Het
Dnah8	T	C	17: 30,932,021 (GRCm39)	V1463A	probably benign	Het
Ebf3	A	T	7: 136,911,094 (GRCm39)	V140E	probably benign	Het
Havcr2	T	A	11: 46,370,108 (GRCm39)		probably benign	Het
Hexb	G	A	13: 97,313,401 (GRCm39)	A485V	probably damaging	Het
Igkv5-37	T	A	6: 69,940,473 (GRCm39)	Q57L	probably damaging	Het
Ipo5	T	A	14: 121,154,795 (GRCm39)	S40T	probably benign	Het
Kcnj8	A	G	6: 142,515,837 (GRCm39)	M90T	probably benign	Het
Kif21b	T	A	1: 136,087,495 (GRCm39)	L937Q	probably damaging	Het
Kmt2c	A	C	5: 25,515,155 (GRCm39)	L2896R	probably damaging	Het
Ldlrap1	A	T	4: 134,484,706 (GRCm39)	I96N	probably damaging	Het
Leo1	A	G	9: 75,353,281 (GRCm39)		probably benign	Het
Mbnl2	T	C	14: 120,642,059 (GRCm39)	M341T	probably benign	Het
Nfatc2	G	A	2: 168,348,821 (GRCm39)	R669*	probably null	Het
Or1e17	T	C	11: 73,831,276 (GRCm39)	F68S	possibly damaging	Het
Or2at1	A	G	7: 99,417,179 (GRCm39)	D270G	possibly damaging	Het
Or51ag1	A	T	7: 103,155,295 (GRCm39)	M286K	probably benign	Het
Or51ai2	A	G	7: 103,586,770 (GRCm39)	Q61R	possibly damaging	Het
Otoa	T	A	7: 120,732,147 (GRCm39)		probably null	Het
Pcnt	T	C	10: 76,278,393 (GRCm39)		probably benign	Het
Recql4	G	T	15: 76,592,771 (GRCm39)	Q307K	possibly damaging	Het
Sp140	T	A	1: 85,570,730 (GRCm39)	Y453*	probably null	Het
Sspo	G	A	6: 48,461,639 (GRCm39)	V3600I	possibly damaging	Het
Sybu	T	C	15: 44,536,619 (GRCm39)	E441G	probably benign	Het
Syne3	A	T	12: 104,929,553 (GRCm39)	H222Q	probably damaging	Het
Tef	T	C	15: 81,705,496 (GRCm39)	V173A	probably benign	Het
Tlcd1	A	G	11: 78,071,160 (GRCm39)		probably null	Het
Tmod4	C	A	3: 95,032,953 (GRCm39)	Q30K	probably benign	Het
Tpgs1	T	C	10: 79,511,322 (GRCm39)	Y155H	probably damaging	Het
Trib3	G	A	2: 152,185,070 (GRCm39)	P60S	probably benign	Het
Ttn	T	A	2: 76,560,550 (GRCm39)	T20957S	probably damaging	Het
Vars1	T	C	17: 35,234,460 (GRCm39)		probably benign	Het
Vps13c	T	C	9: 67,852,763 (GRCm39)		probably benign	Het
Zc3h4	T	C	7: 16,168,002 (GRCm39)	S704P	unknown	Het
Zfp644	G	A	5: 106,785,180 (GRCm39)	R456W	probably damaging	Het

Other mutations in Nhlrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Nhlrc2	APN	19	56,540,231 (GRCm39)	nonsense	probably null
IGL01524:Nhlrc2	APN	19	56,564,587 (GRCm39)	missense	probably benign	0.39
IGL01570:Nhlrc2	APN	19	56,563,219 (GRCm39)	missense	possibly damaging	0.87
IGL01653:Nhlrc2	APN	19	56,559,282 (GRCm39)	missense	probably benign	0.25
IGL02256:Nhlrc2	APN	19	56,585,793 (GRCm39)	missense	probably benign	0.10
IGL02349:Nhlrc2	APN	19	56,580,151 (GRCm39)	missense	possibly damaging	0.94
IGL02501:Nhlrc2	APN	19	56,559,086 (GRCm39)	nonsense	probably null
R0270:Nhlrc2	UTSW	19	56,540,302 (GRCm39)	missense	probably damaging	1.00
R0454:Nhlrc2	UTSW	19	56,558,959 (GRCm39)	missense	probably damaging	1.00
R2022:Nhlrc2	UTSW	19	56,585,710 (GRCm39)	missense	probably benign	0.06
R3854:Nhlrc2	UTSW	19	56,576,703 (GRCm39)	critical splice donor site	probably null
R3855:Nhlrc2	UTSW	19	56,576,703 (GRCm39)	critical splice donor site	probably null
R3856:Nhlrc2	UTSW	19	56,576,703 (GRCm39)	critical splice donor site	probably null
R4659:Nhlrc2	UTSW	19	56,564,699 (GRCm39)	missense	possibly damaging	0.86
R4767:Nhlrc2	UTSW	19	56,558,898 (GRCm39)	missense	probably benign	0.03
R4992:Nhlrc2	UTSW	19	56,558,966 (GRCm39)	missense	probably benign	0.00
R5877:Nhlrc2	UTSW	19	56,559,016 (GRCm39)	missense	probably damaging	1.00
R6191:Nhlrc2	UTSW	19	56,559,291 (GRCm39)	missense	probably benign	0.00
R6755:Nhlrc2	UTSW	19	56,580,216 (GRCm39)	missense	probably benign	0.12
R7164:Nhlrc2	UTSW	19	56,580,931 (GRCm39)	missense	probably damaging	1.00
R7507:Nhlrc2	UTSW	19	56,585,810 (GRCm39)	missense	not run
R7609:Nhlrc2	UTSW	19	56,583,328 (GRCm39)	missense	probably benign
R8811:Nhlrc2	UTSW	19	56,583,344 (GRCm39)	missense	probably benign	0.03
R8849:Nhlrc2	UTSW	19	56,580,184 (GRCm39)	missense	possibly damaging	0.72

Posted On

2015-04-16