Mutagenetix > Incidental Mutation

Incidental Mutation 'R7186:Nrg2'

559333

Institutional Source

Beutler Lab

Gene Symbol

Nrg2

Ensembl Gene

ENSMUSG00000060275

Gene Name

neuregulin 2

Synonyms

Don1, NTAK

MMRRC Submission

045271-MU

Accession Numbers

Essential gene?

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

Stock #

R7186 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36150705-36330433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36178973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 321 (V321A)

Ref Sequence

ENSEMBL: ENSMUSP00000111378 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000111377
Gene: ENSMUSG00000060275
AA Change: V141A

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: V321A

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000111378
Gene: ENSMUSG00000060275
AA Change: V321A

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

Meta Mutation Damage Score

0.1026

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	A	11: 48,910,100 (GRCm39)	I778F	possibly damaging	Het
Adam39	A	T	8: 41,279,349 (GRCm39)	N580I	probably damaging	Het
Adamts20	A	G	15: 94,220,689 (GRCm39)	S1415P	possibly damaging	Het
Adcy2	A	G	13: 68,816,758 (GRCm39)	Y743H	probably damaging	Het
Aldh1a3	A	G	7: 66,055,831 (GRCm39)	V320A	probably damaging	Het
Arid1a	TGCCGCCGCCGCCGCCGCCGCCG	TGCCGCCGCCGCCGCCGCCG	4: 133,480,544 (GRCm39)			Het
Art5	G	T	7: 101,746,536 (GRCm39)	R268S	probably benign	Het
Bfar	T	C	16: 13,510,371 (GRCm39)	V238A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cdc23	G	A	18: 34,770,175 (GRCm39)	T408I	probably damaging	Het
Cdh24	G	C	14: 54,870,949 (GRCm39)	P522A	probably benign	Het
Clk4	T	C	11: 51,159,607 (GRCm39)	V61A	probably benign	Het
Clrn2	T	C	5: 45,611,115 (GRCm39)		probably benign	Het
Cyp2j8	T	C	4: 96,363,787 (GRCm39)	D292G	probably benign	Het
Deaf1	T	C	7: 140,907,383 (GRCm39)	E34G	probably benign	Het
Elovl7	A	G	13: 108,408,382 (GRCm39)	E127G	probably damaging	Het
Flg	A	T	3: 93,187,252 (GRCm39)	R235*	probably null	Het
Gbp3	G	A	3: 142,269,923 (GRCm39)	V77M	probably damaging	Het
Gda	A	T	19: 21,372,569 (GRCm39)	F450I	probably benign	Het
Gipc1	A	G	8: 84,390,762 (GRCm39)	E289G	possibly damaging	Het
Gm4924	T	C	10: 82,214,778 (GRCm39)	Y859H	unknown	Het
Gpatch1	A	T	7: 34,994,738 (GRCm39)	D509E	possibly damaging	Het
Gpbp1	A	G	13: 111,577,233 (GRCm39)	V219A	possibly damaging	Het
Gpr107	A	T	2: 31,042,371 (GRCm39)	M1L	possibly damaging	Het
Heg1	T	C	16: 33,552,034 (GRCm39)	F1003L	probably damaging	Het
Hivep1	A	G	13: 42,309,814 (GRCm39)	T685A	probably benign	Het
Hpse	T	A	5: 100,843,395 (GRCm39)	D259V	probably damaging	Het
Ido2	A	T	8: 25,040,826 (GRCm39)		probably null	Het
Ighv14-1	T	C	12: 113,895,649 (GRCm39)	D92G	probably damaging	Het
Krt87	A	T	15: 101,385,083 (GRCm39)		probably null	Het
Lsp1	T	C	7: 142,044,089 (GRCm39)	V278A	probably damaging	Het
Lurap1l	C	A	4: 80,829,747 (GRCm39)	S52R	possibly damaging	Het
Luzp2	A	G	7: 54,485,577 (GRCm39)		probably benign	Het
Micall1	A	G	15: 79,009,575 (GRCm39)	E399G	unknown	Het
Ncapd2	A	G	6: 125,163,119 (GRCm39)	S130P	possibly damaging	Het
Nuf2	T	C	1: 169,352,954 (GRCm39)	H17R	probably damaging	Het
Numb	A	G	12: 83,842,920 (GRCm39)	W419R	probably damaging	Het
Or4d2b	G	A	11: 87,780,591 (GRCm39)	L44F	possibly damaging	Het
Or4f62	T	A	2: 111,986,507 (GRCm39)	D70E	probably damaging	Het
Or56a3b	A	G	7: 104,771,473 (GRCm39)	R270G	probably benign	Het
Pde6a	T	A	18: 61,353,678 (GRCm39)	M1K	probably null	Het
Pknox1	C	T	17: 31,822,172 (GRCm39)	A313V	probably damaging	Het
Ppp2ca	T	A	11: 52,010,080 (GRCm39)	N229K	possibly damaging	Het
Ptgdr	A	T	14: 45,096,401 (GRCm39)	C104S	probably damaging	Het
Ralgapa2	C	A	2: 146,230,406 (GRCm39)		probably null	Het
Rfx5	G	T	3: 94,865,659 (GRCm39)	K319N	probably benign	Het
Rnase10	A	T	14: 51,247,242 (GRCm39)	T207S	probably damaging	Het
Rreb1	A	G	13: 38,125,608 (GRCm39)	T1305A	probably benign	Het
Rrp12	C	A	19: 41,859,744 (GRCm39)		probably null	Het
Rubcnl	A	C	14: 75,269,453 (GRCm39)	D37A	possibly damaging	Het
Saxo5	T	C	8: 3,529,049 (GRCm39)	F208S	probably damaging	Het
Scn9a	T	C	2: 66,364,567 (GRCm39)	Y802C	probably damaging	Het
Sec16a	A	T	2: 26,330,715 (GRCm39)	Y433*	probably null	Het
Sgk3	T	A	1: 9,956,227 (GRCm39)	V331D	probably benign	Het
Sirt7	C	T	11: 120,511,311 (GRCm39)	R280H	probably benign	Het
Snx13	G	C	12: 35,142,912 (GRCm39)	R252S	probably damaging	Het
Stk32b	G	T	5: 37,624,125 (GRCm39)	D207E	probably damaging	Het
Sult2a7	C	T	7: 14,203,978 (GRCm39)	V262I	not run	Het
Tcstv7b	C	T	13: 120,702,587 (GRCm39)	L128F	probably damaging	Het
Tent5b	T	A	4: 133,213,518 (GRCm39)	F130I	probably damaging	Het
Tmem33	G	C	5: 67,421,130 (GRCm39)	V35L	possibly damaging	Het
Uba1y	A	G	Y: 825,537 (GRCm39)	I300V	probably benign	Het
Usp32	A	T	11: 84,942,060 (GRCm39)	V344E	probably benign	Het
Usp50	C	T	2: 126,625,218 (GRCm39)		probably benign	Het
Vmn1r238	A	C	18: 3,122,661 (GRCm39)	F251C	probably damaging	Het
Vmn2r74	A	T	7: 85,601,150 (GRCm39)	Y829*	probably null	Het
Wars1	A	G	12: 108,846,982 (GRCm39)	F141L	probably damaging	Het
Zfp879	A	G	11: 50,724,621 (GRCm39)	V145A	probably benign	Het
Zfp934	A	T	13: 62,640,204 (GRCm39)	V56D	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
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
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
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'- TGCATTTCTCTGATTCAGCTGAG -3'
(R):5'- TGAGGGACCTTCTTCTCACC -3'

Sequencing Primer
(F):5'- AGATCTTGGGTTTGATATGCAGCAAC -3'
(R):5'- GGGACCTTCTTCTCACCCAACC -3'

Posted On

2019-06-26