Mutagenetix > Incidental Mutation

Incidental Mutation 'R8261:Nrg2'

639959

Institutional Source

Beutler Lab

Gene Symbol

Nrg2

Ensembl Gene

ENSMUSG00000060275

Gene Name

neuregulin 2

Synonyms

Don1, NTAK

MMRRC Submission

067686-MU

Accession Numbers

Essential gene?

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

Stock #

R8261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36150705-36330433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36165428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 395 (K395E)

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
AA Change: K241E

SMART Domains

Protein: ENSMUSP00000111370
Gene: ENSMUSG00000060275
AA Change: K241E

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
AA Change: K395E

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000111378
Gene: ENSMUSG00000060275
AA Change: K395E

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (76/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,888,425 (GRCm39)	E5G	probably benign	Het
Adam23	T	C	1: 63,567,957 (GRCm39)	V202A	noncoding transcript	Het
Adamtsl1	A	C	4: 86,195,120 (GRCm39)	E512D	probably damaging	Het
Ahnak	A	T	19: 8,982,817 (GRCm39)	D1367V	probably damaging	Het
Angpt4	A	T	2: 151,769,084 (GRCm39)	Q198L	probably benign	Het
Apcdd1	T	A	18: 63,066,974 (GRCm39)	H29Q	possibly damaging	Het
Cdh16	T	A	8: 105,341,811 (GRCm39)	K755*	probably null	Het
Cdk6	T	G	5: 3,440,685 (GRCm39)	F80V	probably benign	Het
Chd1	T	C	17: 17,607,804 (GRCm39)	S451P	probably benign	Het
Chd6	A	G	2: 160,799,002 (GRCm39)	L2361P	probably damaging	Het
Chst8	A	G	7: 34,447,579 (GRCm39)	M13T	possibly damaging	Het
Cntnap2	T	C	6: 47,072,627 (GRCm39)	L1065P	probably damaging	Het
Dctn4	T	C	18: 60,659,343 (GRCm39)	V14A	possibly damaging	Het
Dicer1	A	T	12: 104,657,865 (GRCm39)	V1903D	probably damaging	Het
E2f2	A	G	4: 135,911,791 (GRCm39)		silent	Het
Eif4g3	T	A	4: 137,898,429 (GRCm39)	S902T	possibly damaging	Het
Emid1	G	T	11: 5,084,353 (GRCm39)	A152D	probably benign	Het
Fer1l6	T	A	15: 58,432,345 (GRCm39)	N297K	possibly damaging	Het
Fes	T	C	7: 80,032,902 (GRCm39)	D281G	probably null	Het
Frmpd2	T	C	14: 33,224,934 (GRCm39)	V133A	probably benign	Het
Fry	A	G	5: 150,369,372 (GRCm39)	Y2282C	probably damaging	Het
Gm10377	C	T	14: 42,616,664 (GRCm39)		probably null	Het
Gm1527	A	G	3: 28,974,749 (GRCm39)	T521A	probably damaging	Het
Gpr141	T	A	13: 19,936,013 (GRCm39)	H254L	probably benign	Het
Gpr160	A	G	3: 30,950,096 (GRCm39)	E56G	probably benign	Het
Grid2ip	T	G	5: 143,367,695 (GRCm39)		probably null	Het
Grin2a	A	G	16: 9,481,382 (GRCm39)	F473S	probably damaging	Het
Igkv1-131	T	C	6: 67,743,102 (GRCm39)	T94A	probably damaging	Het
Inava	T	A	1: 136,153,215 (GRCm39)	N226Y	probably damaging	Het
Iqgap2	A	G	13: 95,772,078 (GRCm39)	L1367P	probably damaging	Het
Kdm5d	T	A	Y: 936,929 (GRCm39)	M856K	probably damaging	Het
Kirrel1	T	C	3: 86,995,309 (GRCm39)		probably benign	Het
Lad1	T	C	1: 135,755,500 (GRCm39)	S259P	probably damaging	Het
Lalba	A	T	15: 98,379,992 (GRCm39)	F86Y	possibly damaging	Het
Lrfn5	G	A	12: 61,886,323 (GRCm39)	C37Y	probably damaging	Het
Man2c1	A	G	9: 57,046,942 (GRCm39)	T665A	probably benign	Het
Ms4a20	T	A	19: 11,087,707 (GRCm39)	S75C	probably damaging	Het
Myh11	T	C	16: 14,041,867 (GRCm39)	I719V		Het
Nbl1	A	T	4: 138,812,832 (GRCm39)	C34S	probably damaging	Het
Ncapg	T	A	5: 45,844,730 (GRCm39)	I575N	possibly damaging	Het
Nlgn1	T	C	3: 25,487,816 (GRCm39)	T840A	possibly damaging	Het
Nrdc	T	C	4: 108,873,876 (GRCm39)	S231P	possibly damaging	Het
Nrip1	A	T	16: 76,088,949 (GRCm39)	N869K	possibly damaging	Het
Or2a14	T	A	6: 43,130,242 (GRCm39)	M1K	probably null	Het
Or4c12	A	G	2: 89,773,716 (GRCm39)	F248L	probably benign	Het
Or8s16	A	T	15: 98,210,546 (GRCm39)	M295K	probably benign	Het
Otub2	G	T	12: 103,369,161 (GRCm39)		probably null	Het
Paxbp1	T	C	16: 90,834,303 (GRCm39)	D161G	probably benign	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Per2	T	A	1: 91,361,170 (GRCm39)	Q495L	possibly damaging	Het
Plxna2	T	A	1: 194,431,724 (GRCm39)	V571E	probably damaging	Het
Prr7	C	A	13: 55,620,735 (GRCm39)	P248T	possibly damaging	Het
Ptprr	A	T	10: 116,073,169 (GRCm39)	T464S	possibly damaging	Het
Rapgef2	A	G	3: 78,993,325 (GRCm39)	V721A	probably benign	Het
Rfx1	A	T	8: 84,819,479 (GRCm39)	Y625F	probably benign	Het
Rps6kb2	G	T	19: 4,211,195 (GRCm39)	A110D	possibly damaging	Het
Setdb2	A	T	14: 59,651,141 (GRCm39)		probably benign	Het
Slc25a31	T	C	3: 40,679,351 (GRCm39)	I272T	probably damaging	Het
Smpd1	T	C	7: 105,204,520 (GRCm39)	V133A	probably benign	Het
Sorl1	T	C	9: 41,925,777 (GRCm39)	D1185G	probably damaging	Het
Spag6	T	A	2: 18,750,301 (GRCm39)	L449H	probably benign	Het
Sptb	C	A	12: 76,668,036 (GRCm39)	R687L	probably benign	Het
Sptbn5	A	T	2: 119,877,616 (GRCm39)	V1012E	noncoding transcript	Het
Tmem192	A	G	8: 65,416,972 (GRCm39)	I188V	probably benign	Het
Tmem253	G	A	14: 52,256,708 (GRCm39)	V194M	probably benign	Het
Tph1	A	G	7: 46,303,173 (GRCm39)		silent	Het
Trak1	A	G	9: 121,280,733 (GRCm39)	E374G	probably damaging	Het
Trpv1	A	T	11: 73,145,593 (GRCm39)		probably null	Het
Trub2	T	C	2: 29,667,725 (GRCm39)	H305R	probably benign	Het
Ttn	A	G	2: 76,747,768 (GRCm39)	V4427A	probably benign	Het
Vasn	A	G	16: 4,466,160 (GRCm39)	T36A	probably damaging	Het
Vmn1r8	A	T	6: 57,013,158 (GRCm39)	I70F	probably benign	Het
Vps13c	A	T	9: 67,862,262 (GRCm39)	I2960L	probably damaging	Het
Zdhhc4	C	A	5: 143,307,588 (GRCm39)	M144I	probably benign	Het
Zfp273	T	A	13: 67,974,070 (GRCm39)	N399K	probably benign	Het
Zfp976	T	A	7: 42,262,125 (GRCm39)	T572S	unknown	Het
Zmym4	A	G	4: 126,798,360 (GRCm39)	C756R	probably damaging	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
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
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'- TCTAAACCCAAGGATTAGGCC -3'
(R):5'- TAAGGAGATGACAGAGCCCTC -3'

Sequencing Primer
(F):5'- GCAAAACAAAAACAAAACAAAAGAAC -3'
(R):5'- CAGTTCCCCGGCTCCAG -3'

Posted On

2020-07-28