Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01396:Nrg2'

79467

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrg2

Ensembl Gene

ENSMUSG00000060275

Gene Name

neuregulin 2

Synonyms

Don1, NTAK

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL01396

Quality Score

Status

Chromosome

Chromosomal Location

36150705-36330433 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 36178905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115713]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115705

SMART Domains

Protein: ENSMUSP00000111370
Gene: ENSMUSG00000060275

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
IGc2	105	175	3.85e-14	SMART
EGF	201	239	3.76e-1	SMART
low complexity region	265	274	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115712

SMART Domains

Protein: ENSMUSP00000111377
Gene: ENSMUSG00000060275

Domain	Start	End	E-Value	Type
low complexity region	19	66	N/A	INTRINSIC
low complexity region	69	111	N/A	INTRINSIC
IGc2	259	329	3.85e-14	SMART
EGF	355	393	1.66e-2	SMART
Pfam:Neuregulin	403	834	1.7e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115713

SMART Domains

Protein: ENSMUSP00000111378
Gene: ENSMUSG00000060275

Domain	Start	End	E-Value	Type
low complexity region	19	66	N/A	INTRINSIC
low complexity region	69	111	N/A	INTRINSIC
IGc2	259	329	3.85e-14	SMART
EGF	355	393	3.76e-1	SMART
Pfam:Neuregulin	409	844	4.4e-170	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ERBB family of receptors, this protein induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1, another member of the neuregulin family of ligands. The products of these genes mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. This gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcript variants encoding distinct isoforms have been described. [provided by RefSeq, May 2010]
PHENOTYPE: About one third of mice homozygous for a knock-out allele die prior to weaning in the absence of cardiac defects or other morphological abnormalities. Homozygotes display an early but transient postnatal growth deficit and reduced reproductive capacity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,649 (GRCm39)	Y469N	probably benign	Het
Actl11	T	C	9: 107,805,964 (GRCm39)	S96P	possibly damaging	Het
Ankrd13b	T	A	11: 77,363,198 (GRCm39)		probably null	Het
Apobec4	T	A	1: 152,632,017 (GRCm39)	I15K	probably damaging	Het
Arhgef28	G	T	13: 98,090,401 (GRCm39)	D1039E	probably damaging	Het
Atp1a1	C	T	3: 101,498,769 (GRCm39)	G175R	probably damaging	Het
AU040320	T	A	4: 126,763,171 (GRCm39)		probably benign	Het
Bcl9l	G	A	9: 44,418,121 (GRCm39)	R653H	probably damaging	Het
Ccdc141	T	A	2: 76,958,669 (GRCm39)	I144L	possibly damaging	Het
Cdh20	C	T	1: 104,875,154 (GRCm39)	T312I	possibly damaging	Het
Cdh23	C	T	10: 60,220,848 (GRCm39)	V1297I	possibly damaging	Het
Cfap57	T	C	4: 118,467,792 (GRCm39)	Y315C	probably damaging	Het
Chd8	A	G	14: 52,442,044 (GRCm39)		probably benign	Het
Cog5	A	G	12: 31,944,095 (GRCm39)	D660G	probably benign	Het
Cps1	T	C	1: 67,196,945 (GRCm39)	I332T	probably damaging	Het
Csgalnact2	T	C	6: 118,103,288 (GRCm39)	T225A	probably damaging	Het
Dchs1	A	G	7: 105,421,490 (GRCm39)	L310P	probably damaging	Het
Dgki	T	C	6: 36,977,025 (GRCm39)	N695S	probably damaging	Het
Gas7	T	A	11: 67,543,740 (GRCm39)		probably null	Het
Gm21286	T	C	4: 60,794,323 (GRCm39)		noncoding transcript	Het
Gm4799	C	T	10: 82,790,518 (GRCm39)		noncoding transcript	Het
Hdac4	T	C	1: 91,887,196 (GRCm39)		probably benign	Het
Hif1a	T	A	12: 73,987,307 (GRCm39)	S467T	probably benign	Het
Ier5	A	G	1: 154,974,296 (GRCm39)	V294A	probably damaging	Het
Ifna11	T	C	4: 88,738,314 (GRCm39)	V40A	probably benign	Het
Itga9	T	C	9: 118,436,191 (GRCm39)		probably benign	Het
Lbx1	G	T	19: 45,222,670 (GRCm39)	Q118K	probably benign	Het
Lta	A	T	17: 35,423,061 (GRCm39)		probably null	Het
Matr3	A	G	18: 35,721,442 (GRCm39)	Y471C	probably damaging	Het
Or4c103	C	T	2: 88,513,575 (GRCm39)	C167Y	probably damaging	Het
Or4k51	T	C	2: 111,584,848 (GRCm39)	F85L	probably benign	Het
Or4k51	T	A	2: 111,584,948 (GRCm39)	M118K	probably damaging	Het
Or5l13	G	T	2: 87,780,207 (GRCm39)	F123L	probably damaging	Het
Patl1	A	G	19: 11,901,247 (GRCm39)	K299R	probably damaging	Het
Pdgfrb	A	G	18: 61,205,736 (GRCm39)	E574G	probably damaging	Het
Phf3	G	A	1: 30,843,386 (GRCm39)	Q1858*	probably null	Het
Prkca	T	C	11: 107,905,148 (GRCm39)	K197E	possibly damaging	Het
Psmc6	C	A	14: 45,581,124 (GRCm39)	Q307K	probably benign	Het
Rasa1	T	C	13: 85,406,561 (GRCm39)	I181V	probably benign	Het
Scel	A	G	14: 103,845,530 (GRCm39)		probably benign	Het
Scn5a	A	T	9: 119,363,770 (GRCm39)	S457T	probably damaging	Het
Sesn3	A	G	9: 14,232,374 (GRCm39)	T216A	probably benign	Het
Slc25a21	A	G	12: 57,205,974 (GRCm39)	V19A	probably benign	Het
Slc34a1	A	G	13: 55,550,546 (GRCm39)	T81A	probably damaging	Het
Slc35a5	A	G	16: 44,971,866 (GRCm39)	Y117H	probably damaging	Het
Sptbn4	A	G	7: 27,114,196 (GRCm39)	V569A	probably benign	Het
Sqle	A	G	15: 59,195,723 (GRCm39)	Y333C	probably damaging	Het
Svep1	T	C	4: 58,068,552 (GRCm39)	E3078G	possibly damaging	Het
Tacc2	T	A	7: 130,360,919 (GRCm39)	I2737N	probably damaging	Het
Tet3	A	T	6: 83,346,620 (GRCm39)	Y1272*	probably null	Het
Tnr	G	T	1: 159,724,594 (GRCm39)	R1095L	possibly damaging	Het
Vmn1r184	T	C	7: 25,966,862 (GRCm39)	S203P	probably damaging	Het
Vmn2r94	A	G	17: 18,477,301 (GRCm39)	L370P	probably damaging	Het
Xrcc5	A	G	1: 72,393,404 (GRCm39)	H559R	probably benign	Het

Other mutations in Nrg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Nrg2	APN	18	36,154,271 (GRCm39)	missense	probably benign	0.00
R0179:Nrg2	UTSW	18	36,155,468 (GRCm39)	missense	probably benign	0.13
R0976:Nrg2	UTSW	18	36,154,144 (GRCm39)	missense	probably benign	0.21
R1387:Nrg2	UTSW	18	36,329,792 (GRCm39)	missense	probably damaging	1.00
R1487:Nrg2	UTSW	18	36,185,965 (GRCm39)	missense	possibly damaging	0.69
R1746:Nrg2	UTSW	18	36,154,975 (GRCm39)	missense	probably damaging	1.00
R1882:Nrg2	UTSW	18	36,154,150 (GRCm39)	missense	probably damaging	1.00
R1940:Nrg2	UTSW	18	36,329,897 (GRCm39)	unclassified	probably benign
R2090:Nrg2	UTSW	18	36,151,496 (GRCm39)	missense	probably benign	0.00
R2183:Nrg2	UTSW	18	36,329,804 (GRCm39)	missense	probably benign	0.11
R4664:Nrg2	UTSW	18	36,185,948 (GRCm39)	missense	possibly damaging	0.87
R4677:Nrg2	UTSW	18	36,154,152 (GRCm39)	missense	possibly damaging	0.92
R4860:Nrg2	UTSW	18	36,329,600 (GRCm39)	missense	probably damaging	1.00
R4860:Nrg2	UTSW	18	36,329,600 (GRCm39)	missense	probably damaging	1.00
R5091:Nrg2	UTSW	18	36,185,838 (GRCm39)	missense	probably damaging	1.00
R6657:Nrg2	UTSW	18	36,329,642 (GRCm39)	missense	probably damaging	0.98
R6968:Nrg2	UTSW	18	36,329,499 (GRCm39)	missense	probably benign	0.01
R7186:Nrg2	UTSW	18	36,178,973 (GRCm39)	missense	probably benign	0.17
R7304:Nrg2	UTSW	18	36,178,994 (GRCm39)	missense	probably benign	0.24
R7467:Nrg2	UTSW	18	36,155,459 (GRCm39)	missense	probably benign	0.00
R7564:Nrg2	UTSW	18	36,157,449 (GRCm39)	missense	probably damaging	1.00
R7876:Nrg2	UTSW	18	36,330,140 (GRCm39)	missense	unknown
R8113:Nrg2	UTSW	18	36,154,156 (GRCm39)	missense	probably damaging	1.00
R8133:Nrg2	UTSW	18	36,165,430 (GRCm39)	missense	probably benign	0.00
R8214:Nrg2	UTSW	18	36,329,729 (GRCm39)	missense	probably benign	0.02
R8261:Nrg2	UTSW	18	36,165,428 (GRCm39)	missense	probably benign	0.11
R9000:Nrg2	UTSW	18	36,151,682 (GRCm39)	missense	probably damaging	1.00
R9131:Nrg2	UTSW	18	36,157,396 (GRCm39)	missense	probably damaging	1.00
R9484:Nrg2	UTSW	18	36,157,401 (GRCm39)	missense	probably null
R9512:Nrg2	UTSW	18	36,179,010 (GRCm39)	missense	probably benign	0.11
R9667:Nrg2	UTSW	18	36,165,430 (GRCm39)	missense	probably benign	0.09
Z1176:Nrg2	UTSW	18	36,151,523 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-11-05