Mutagenetix > Incidental Mutation

Incidental Mutation 'R7194:Nrg3'

559812

Institutional Source

Beutler Lab

Gene Symbol

Nrg3

Ensembl Gene

ENSMUSG00000041014

Gene Name

neuregulin 3

Synonyms

ska

MMRRC Submission

045335-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R7194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38090909-39195045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39194435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 108 (M108K)

Ref Sequence

ENSEMBL: ENSMUSP00000136884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166968] [ENSMUST00000168810] [ENSMUST00000173780]

AlphaFold

O35181

Predicted Effect

probably benign
Transcript: ENSMUST00000166968
AA Change: M108K

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

SMART Domains

Protein: ENSMUSP00000136884
Gene: ENSMUSG00000041014
AA Change: M108K

Domain	Start	End	E-Value	Type
low complexity region	2	49	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
low complexity region	127	148	N/A	INTRINSIC
low complexity region	195	208	N/A	INTRINSIC
low complexity region	254	274	N/A	INTRINSIC
EGF	291	331	3.57e-2	SMART
Pfam:Neuregulin	355	480	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168810
AA Change: M108K

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

SMART Domains

Protein: ENSMUSP00000129783
Gene: ENSMUSG00000041014
AA Change: M108K

Domain	Start	End	E-Value	Type
low complexity region	2	49	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
low complexity region	127	148	N/A	INTRINSIC
low complexity region	195	208	N/A	INTRINSIC
low complexity region	254	274	N/A	INTRINSIC
EGF	291	331	3.57e-2	SMART
transmembrane domain	363	385	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173780
AA Change: M108K

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

SMART Domains

Protein: ENSMUSP00000134727
Gene: ENSMUSG00000041014
AA Change: M108K

Domain	Start	End	E-Value	Type
low complexity region	2	49	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
low complexity region	127	148	N/A	INTRINSIC
low complexity region	195	208	N/A	INTRINSIC
low complexity region	254	274	N/A	INTRINSIC
EGF	291	331	3.57e-2	SMART
transmembrane domain	363	385	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mutations in this gene result in abnormal, genetic background specific, mammary gland development. [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
Aadat	A	G	8: 60,979,656 (GRCm39)	I173V	probably benign	Het
Abi3bp	C	T	16: 56,382,734 (GRCm39)	R115C	probably damaging	Het
Adam18	A	G	8: 25,141,868 (GRCm39)	S234P	possibly damaging	Het
Adam20	A	G	8: 41,249,449 (GRCm39)	R520G	probably benign	Het
Angel2	C	G	1: 190,677,194 (GRCm39)	T514R	probably damaging	Het
Ankar	A	T	1: 72,698,192 (GRCm39)	I954N	probably benign	Het
Ankrd7	A	T	6: 18,879,342 (GRCm39)	Y262F	probably benign	Het
Ano8	C	A	8: 71,935,007 (GRCm39)	L398F	possibly damaging	Het
App	C	T	16: 84,822,319 (GRCm39)	V356I	probably benign	Het
Atp1a2	C	A	1: 172,108,194 (GRCm39)	E636*	probably null	Het
Cckbr	G	A	7: 105,084,552 (GRCm39)	E429K	possibly damaging	Het
Cfi	T	G	3: 129,648,708 (GRCm39)	S197R	probably damaging	Het
Chn2	A	G	6: 54,263,162 (GRCm39)		probably null	Het
Col3a1	C	A	1: 45,370,860 (GRCm39)	A405D	unknown	Het
Colec12	A	T	18: 9,848,248 (GRCm39)	N142I	probably benign	Het
Copa	T	C	1: 171,947,511 (GRCm39)	L1109P	probably damaging	Het
Cpeb3	T	A	19: 37,152,152 (GRCm39)	M75L	probably benign	Het
Cyp2d11	T	C	15: 82,275,969 (GRCm39)	Y204C	probably benign	Het
Defa17	A	G	8: 22,146,613 (GRCm39)	T80A	probably benign	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dppa5a	C	T	9: 78,275,002 (GRCm39)		probably null	Het
Fat4	G	T	3: 38,943,033 (GRCm39)	S642I	probably damaging	Het
Fat4	T	A	3: 39,038,044 (GRCm39)	C3899S	probably damaging	Het
Fn1	A	G	1: 71,641,482 (GRCm39)	V1869A	probably damaging	Het
Gm10308	A	T	17: 91,396,389 (GRCm39)	I104L	unknown	Het
Gpr139	C	T	7: 118,743,896 (GRCm39)	A230T	possibly damaging	Het
Grm8	T	C	6: 27,618,486 (GRCm39)	N452S	probably benign	Het
Hmox1	T	C	8: 75,823,551 (GRCm39)	V73A	probably benign	Het
Hspa4	A	G	11: 53,156,765 (GRCm39)	F641L	probably damaging	Het
Ifi207	T	G	1: 173,557,490 (GRCm39)	H416P	possibly damaging	Het
Igkv10-96	G	T	6: 68,609,028 (GRCm39)	T89K	possibly damaging	Het
Kmt2d	A	C	15: 98,741,714 (GRCm39)	V4482G	unknown	Het
Krt28	T	A	11: 99,265,230 (GRCm39)	K146*	probably null	Het
Krt82	T	C	15: 101,451,191 (GRCm39)	N406S	probably damaging	Het
Marveld3	A	T	8: 110,686,477 (GRCm39)		probably null	Het
Mllt6	C	T	11: 97,564,394 (GRCm39)	S370L	probably benign	Het
Muc16	A	G	9: 18,585,750 (GRCm39)	L26S	unknown	Het
Mup12	T	A	4: 60,696,734 (GRCm39)	E48V	probably benign	Het
Myh1	G	A	11: 67,102,183 (GRCm39)	V825I	probably benign	Het
Nipal3	G	A	4: 135,201,732 (GRCm39)	T152I	probably benign	Het
Nup50l	T	G	6: 96,141,756 (GRCm39)	E429D	probably benign	Het
Oog3	A	T	4: 143,889,169 (GRCm39)	I3N	probably damaging	Het
Or10d4c	G	A	9: 39,558,387 (GRCm39)	V122I	probably benign	Het
Pira13	A	G	7: 3,827,792 (GRCm39)	W122R		Het
Pkhd1l1	T	C	15: 44,392,512 (GRCm39)	C1616R	probably damaging	Het
Ppa2	T	A	3: 133,053,953 (GRCm39)		probably null	Het
Ppfibp2	T	A	7: 107,322,187 (GRCm39)		probably null	Het
Ppp4c	T	C	7: 126,385,653 (GRCm39)	N229D	probably damaging	Het
Ptpn9	T	C	9: 56,929,570 (GRCm39)	F96L	probably damaging	Het
Pygl	A	G	12: 70,241,094 (GRCm39)	V742A	probably benign	Het
Ranbp2	A	G	10: 58,312,591 (GRCm39)	T1104A	probably benign	Het
Rasal1	G	A	5: 120,813,557 (GRCm39)	A644T	probably benign	Het
Rcor3	T	A	1: 191,810,261 (GRCm39)	T139S	possibly damaging	Het
Rfx5	T	A	3: 94,862,454 (GRCm39)	I37N	probably damaging	Het
Rnf112	C	T	11: 61,341,683 (GRCm39)	G374R	probably damaging	Het
Rrp12	T	C	19: 41,859,979 (GRCm39)	I1034V	probably benign	Het
Sacs	T	A	14: 61,447,538 (GRCm39)	Y3195N	possibly damaging	Het
Scn4a	A	G	11: 106,215,062 (GRCm39)	I1243T	probably benign	Het
Sirt7	A	T	11: 120,509,799 (GRCm39)	C362S	probably benign	Het
Slc17a6	T	A	7: 51,276,640 (GRCm39)	S130T	probably damaging	Het
Snrnp48	A	C	13: 38,393,875 (GRCm39)	Y60S	probably damaging	Het
Syne1	T	C	10: 5,060,859 (GRCm39)	E7260G	probably damaging	Het
Trbv15	C	T	6: 41,118,529 (GRCm39)	T95I	probably benign	Het
Trip12	A	T	1: 84,771,943 (GRCm39)	N68K	probably benign	Het
Ugcg	A	G	4: 59,213,210 (GRCm39)	Y132C	probably damaging	Het
Usp9y	A	T	Y: 1,304,672 (GRCm39)	C2391S	probably damaging	Het
Vmn1r103	C	A	7: 20,244,438 (GRCm39)	V8L	probably benign	Het
Vmn2r15	T	A	5: 109,440,649 (GRCm39)	N403I	probably damaging	Het
Zbtb11	T	C	16: 55,827,551 (GRCm39)	S1006P	probably damaging	Het

Other mutations in Nrg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00703:Nrg3	APN	14	38,092,758 (GRCm39)	missense	probably damaging	0.99
IGL01994:Nrg3	APN	14	38,734,043 (GRCm39)	missense	probably damaging	1.00
IGL02002:Nrg3	APN	14	38,092,724 (GRCm39)	nonsense	probably null
IGL02247:Nrg3	APN	14	38,093,269 (GRCm39)	missense	probably damaging	0.98
IGL02967:Nrg3	APN	14	38,390,256 (GRCm39)	splice site	probably benign
R6803_Nrg3_459	UTSW	14	38,733,957 (GRCm39)	nonsense	probably null
FR4304:Nrg3	UTSW	14	38,119,230 (GRCm39)	small insertion	probably benign
FR4449:Nrg3	UTSW	14	38,119,228 (GRCm39)	small insertion	probably benign
FR4548:Nrg3	UTSW	14	38,119,228 (GRCm39)	small insertion	probably benign
FR4589:Nrg3	UTSW	14	38,119,223 (GRCm39)	small insertion	probably benign
R0178:Nrg3	UTSW	14	38,098,413 (GRCm39)	missense	probably damaging	1.00
R0825:Nrg3	UTSW	14	39,194,348 (GRCm39)	missense	possibly damaging	0.67
R1545:Nrg3	UTSW	14	38,129,111 (GRCm39)	missense	probably benign	0.03
R2009:Nrg3	UTSW	14	38,092,771 (GRCm39)	missense	probably damaging	0.99
R2022:Nrg3	UTSW	14	38,098,309 (GRCm39)	missense	probably damaging	0.98
R2264:Nrg3	UTSW	14	38,103,659 (GRCm39)	missense	probably damaging	1.00
R2937:Nrg3	UTSW	14	38,092,965 (GRCm39)	missense	possibly damaging	0.94
R2958:Nrg3	UTSW	14	39,194,669 (GRCm39)	missense	unknown
R3085:Nrg3	UTSW	14	38,092,906 (GRCm39)	missense	probably damaging	0.99
R3801:Nrg3	UTSW	14	38,098,391 (GRCm39)	missense	probably damaging	0.96
R3803:Nrg3	UTSW	14	38,098,391 (GRCm39)	missense	probably damaging	0.96
R4246:Nrg3	UTSW	14	39,194,198 (GRCm39)	missense	possibly damaging	0.58
R5584:Nrg3	UTSW	14	39,194,654 (GRCm39)	small deletion	probably benign
R5625:Nrg3	UTSW	14	38,092,950 (GRCm39)	missense	probably damaging	0.99
R5870:Nrg3	UTSW	14	39,194,586 (GRCm39)	missense	possibly damaging	0.95
R6007:Nrg3	UTSW	14	39,194,409 (GRCm39)	nonsense	probably null
R6047:Nrg3	UTSW	14	38,119,309 (GRCm39)	critical splice acceptor site	probably null
R6294:Nrg3	UTSW	14	38,119,196 (GRCm39)	missense	probably benign	0.00
R6803:Nrg3	UTSW	14	38,733,957 (GRCm39)	nonsense	probably null
R7023:Nrg3	UTSW	14	38,098,333 (GRCm39)	missense	probably damaging	1.00
R7159:Nrg3	UTSW	14	38,092,692 (GRCm39)	nonsense	probably null
R7297:Nrg3	UTSW	14	38,092,896 (GRCm39)	missense	probably benign	0.10
R7413:Nrg3	UTSW	14	38,092,669 (GRCm39)	missense	probably damaging	0.99
R7474:Nrg3	UTSW	14	38,733,956 (GRCm39)	missense	probably damaging	0.98
R7684:Nrg3	UTSW	14	39,194,522 (GRCm39)	missense	probably damaging	1.00
R7848:Nrg3	UTSW	14	38,390,240 (GRCm39)	missense	probably damaging	1.00
R8342:Nrg3	UTSW	14	38,734,053 (GRCm39)	missense	probably damaging	1.00
R8435:Nrg3	UTSW	14	39,194,654 (GRCm39)	small deletion	probably benign
R8797:Nrg3	UTSW	14	38,093,243 (GRCm39)	missense	probably benign	0.20
R9060:Nrg3	UTSW	14	38,734,052 (GRCm39)	missense	probably damaging	1.00
R9136:Nrg3	UTSW	14	38,119,262 (GRCm39)	missense	possibly damaging	0.65
R9435:Nrg3	UTSW	14	39,194,556 (GRCm39)	missense	possibly damaging	0.95
X0020:Nrg3	UTSW	14	38,119,198 (GRCm39)	missense	probably benign	0.01
Z1176:Nrg3	UTSW	14	39,194,490 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TGCTACTGAAGAAAGGGGCC -3'
(R):5'- AGATCGGCTCCTAGGATGAGTG -3'

Sequencing Primer
(F):5'- CAGCAGTGTTCCGTGCTG -3'
(R):5'- CTCCTAGGATGAGTGAAGGGGC -3'

Posted On

2019-06-26