Mutagenetix > Incidental Mutation

Incidental Mutation 'R2090:Nrg2'

231746

Institutional Source

Beutler Lab

Gene Symbol

Nrg2

Ensembl Gene

ENSMUSG00000060275

Gene Name

neuregulin 2

Synonyms

Don1, NTAK

MMRRC Submission

040095-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R2090 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

36150705-36330433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36151496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 682 (D682G)

Ref Sequence

ENSEMBL: ENSMUSP00000111378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115713] [ENSMUST00000115716] [ENSMUST00000175734] [ENSMUST00000176472] [ENSMUST00000176873] [ENSMUST00000177432]

AlphaFold

no structure available at present

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
AA Change: D682G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000111378
Gene: ENSMUSG00000060275
AA Change: D682G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115716

SMART Domains

Protein: ENSMUSP00000111381
Gene: ENSMUSG00000024347

Domain	Start	End	E-Value	Type
low complexity region	153	169	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
Sec7	270	461	4.69e-56	SMART
PH	510	624	4.35e-14	SMART
Blast:Sec7	653	705	4e-24	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000175734

SMART Domains

Protein: ENSMUSP00000135795
Gene: ENSMUSG00000024347

Domain	Start	End	E-Value	Type
low complexity region	153	169	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
Sec7	270	462	4.1e-55	SMART
PH	511	625	1.9e-16	SMART
Blast:Sec7	654	706	4e-24	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000176472

SMART Domains

Protein: ENSMUSP00000135285
Gene: ENSMUSG00000024347

Domain	Start	End	E-Value	Type
low complexity region	153	169	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
Sec7	270	461	4.69e-56	SMART
Pfam:PH_9	511	553	4.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176873

SMART Domains

Protein: ENSMUSP00000135616
Gene: ENSMUSG00000024347

Domain	Start	End	E-Value	Type
low complexity region	153	169	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
Sec7	270	462	4.2e-55	SMART
PH	511	625	1.9e-16	SMART
Blast:Sec7	654	706	4e-24	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000177432

SMART Domains

Protein: ENSMUSP00000135431
Gene: ENSMUSG00000024347

Domain	Start	End	E-Value	Type
low complexity region	153	169	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
Sec7	270	461	4.69e-56	SMART
PH	510	621	5.36e-14	SMART
Blast:Sec7	650	702	4e-24	BLAST

Meta Mutation Damage Score

0.0649

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 25,391,456 (GRCm39)		probably null	Het
Adcy7	A	T	8: 89,042,485 (GRCm39)	T451S	probably damaging	Het
Adgrg3	A	T	8: 95,766,558 (GRCm39)	T410S	possibly damaging	Het
Alg11	G	T	8: 22,555,646 (GRCm39)	L302F	possibly damaging	Het
Ankrd17	A	G	5: 90,445,905 (GRCm39)	V310A	possibly damaging	Het
Atg16l2	C	T	7: 100,942,575 (GRCm39)		probably null	Het
B3gnt2	A	G	11: 22,786,291 (GRCm39)	V299A	probably benign	Het
Birc6	A	G	17: 74,969,791 (GRCm39)	N4258S	probably benign	Het
C2cd4d	A	G	3: 94,271,321 (GRCm39)	K196E	probably benign	Het
Calhm6	A	G	10: 34,002,358 (GRCm39)	S242P	probably damaging	Het
Cdr2l	A	G	11: 115,281,827 (GRCm39)	K111E	probably damaging	Het
Crtam	T	C	9: 40,895,612 (GRCm39)	Q41R	possibly damaging	Het
Cspp1	A	G	1: 10,160,493 (GRCm39)	K560R	possibly damaging	Het
Dcaf15	A	T	8: 84,824,400 (GRCm39)	Y571*	probably null	Het
Defa39	A	T	8: 22,192,805 (GRCm39)	W64R	possibly damaging	Het
Dpy19l4	T	C	4: 11,304,344 (GRCm39)	Y99C	probably benign	Het
Edem3	C	T	1: 151,680,577 (GRCm39)		probably benign	Het
Enpp6	A	T	8: 47,518,405 (GRCm39)		probably null	Het
Foxf2	T	A	13: 31,810,824 (GRCm39)	D254E	probably benign	Het
Gjb5	T	C	4: 127,249,794 (GRCm39)	N117D	probably benign	Het
Glmn	G	A	5: 107,709,794 (GRCm39)	L337F	probably damaging	Het
Gsdmc2	T	A	15: 63,698,675 (GRCm39)	Y307F	probably benign	Het
Gsdmc3	T	A	15: 63,738,631 (GRCm39)	M144L	probably benign	Het
Ibtk	A	G	9: 85,603,046 (GRCm39)	I653T	probably benign	Het
Il24	T	G	1: 130,812,574 (GRCm39)	D99A	possibly damaging	Het
Intu	A	G	3: 40,637,966 (GRCm39)	Q484R	probably benign	Het
Iqca1l	A	G	5: 24,755,674 (GRCm39)	S283P	probably benign	Het
Lsp1	T	C	7: 142,045,544 (GRCm39)		probably benign	Het
Mad1l1	A	G	5: 139,995,011 (GRCm39)	S672P	probably benign	Het
Man2a2	A	T	7: 80,013,858 (GRCm39)		probably benign	Het
Morc3	C	A	16: 93,663,341 (GRCm39)	H515N	probably benign	Het
Nav1	T	C	1: 135,534,903 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,230 (GRCm39)	L247P	probably damaging	Het
Nfkbiz	A	T	16: 55,636,818 (GRCm39)	F494L	probably benign	Het
Nr1d1	G	A	11: 98,661,436 (GRCm39)	P277S	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Oasl1	G	A	5: 115,073,993 (GRCm39)	D301N	probably damaging	Het
Or10ag56	A	T	2: 87,139,762 (GRCm39)	I230F	probably benign	Het
Or14a258	A	T	7: 86,035,289 (GRCm39)	I193N	probably benign	Het
Or5h26	A	G	16: 58,988,503 (GRCm39)	M1T	probably null	Het
Palmd	A	G	3: 116,721,083 (GRCm39)	S123P	probably damaging	Het
Patj	A	G	4: 98,325,560 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,655 (GRCm39)	D162G	probably benign	Het
Plppr5	A	G	3: 117,369,520 (GRCm39)	D59G	possibly damaging	Het
Pmvk	A	C	3: 89,369,189 (GRCm39)	R11S	possibly damaging	Het
Pnliprp1	A	G	19: 58,728,901 (GRCm39)	T363A	probably benign	Het
Poll	A	T	19: 45,547,277 (GRCm39)	I65N	probably benign	Het
Prox1	T	A	1: 189,893,009 (GRCm39)	S479C	probably damaging	Het
Prss50	A	T	9: 110,691,361 (GRCm39)	S222C	probably damaging	Het
Rasa3	A	C	8: 13,632,381 (GRCm39)		probably benign	Het
Sec14l3	T	C	11: 4,025,481 (GRCm39)	V335A	probably benign	Het
Setbp1	C	T	18: 78,899,935 (GRCm39)	S1244N	probably benign	Het
Sgcg	A	T	14: 61,483,213 (GRCm39)	F63I	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc2a13	T	A	15: 91,400,695 (GRCm39)	I176F	probably benign	Het
Smc6	A	G	12: 11,339,987 (GRCm39)	T432A	probably benign	Het
Snx25	G	A	8: 46,509,150 (GRCm39)	P478L	probably damaging	Het
Taf2	A	T	15: 54,879,882 (GRCm39)	H1151Q	probably damaging	Het
Thsd1	A	G	8: 22,749,673 (GRCm39)	K795R	possibly damaging	Het
Tmem108	G	A	9: 103,361,976 (GRCm39)	L537F	possibly damaging	Het
Ubr3	T	C	2: 69,766,361 (GRCm39)	Y410H	probably damaging	Het
Vav3	T	C	3: 109,555,055 (GRCm39)		probably null	Het
Vmn1r224	T	C	17: 20,639,524 (GRCm39)	Y34H	probably benign	Het
Zeb1	T	C	18: 5,766,458 (GRCm39)	V323A	possibly damaging	Het
Zfp652	A	G	11: 95,644,834 (GRCm39)	D240G	probably benign	Het
Zfp963	A	T	8: 70,195,996 (GRCm39)	C152*	probably null	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
IGL01396:Nrg2	APN	18	36,178,905 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AACCGCTGCTCAATGACAGC -3'
(R):5'- CTGGTTGGAATCTCTGGTGAACAC -3'

Sequencing Primer
(F):5'- GCCAACCCGTTGAGCCG -3'
(R):5'- ACAGGTACGTGTCAGCCTTG -3'

Posted On

2014-09-18