Mutagenetix > Incidental Mutation

Incidental Mutation 'R7159:Nrg3'

557529

Institutional Source

Beutler Lab

Gene Symbol

Nrg3

Ensembl Gene

ENSMUSG00000041014

Gene Name

neuregulin 3

Synonyms

ska

MMRRC Submission

045259-MU

Accession Numbers

Essential gene?

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

Stock #

R7159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38090909-39195045 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 38092692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 647 (L647*)

Ref Sequence

ENSEMBL: ENSMUSP00000136884 (fasta)

Gene Model

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

AlphaFold

O35181

Predicted Effect

probably null
Transcript: ENSMUST00000166968
AA Change: L647*

SMART Domains

Protein: ENSMUSP00000136884
Gene: ENSMUSG00000041014
AA Change: L647*

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 null
Transcript: ENSMUST00000168810
AA Change: L631*

SMART Domains

Protein: ENSMUSP00000129783
Gene: ENSMUSG00000041014
AA Change: L631*

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 null
Transcript: ENSMUST00000173780
AA Change: L623*

SMART Domains

Protein: ENSMUSP00000134727
Gene: ENSMUSG00000041014
AA Change: L623*

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: 99.0%

Validation Efficiency

99% (70/71)

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
Akap13	T	A	7: 75,380,327 (GRCm39)	V500E	possibly damaging	Het
Ankrd34b	T	C	13: 92,575,970 (GRCm39)	S401P	probably benign	Het
Arfgef2	T	A	2: 166,668,848 (GRCm39)	D41E	probably benign	Het
Arid1a	T	C	4: 133,480,879 (GRCm39)	N15S	unknown	Het
Arsa	A	T	15: 89,358,921 (GRCm39)		probably null	Het
B3gnt9	C	A	8: 105,981,064 (GRCm39)	C108F	probably damaging	Het
Bbc3	C	A	7: 16,047,733 (GRCm39)	Y152*	probably null	Het
Btbd1	T	C	7: 81,467,957 (GRCm39)	M188V	probably benign	Het
Caln1	C	T	5: 130,851,838 (GRCm39)	T209I	probably benign	Het
Casp12	C	T	9: 5,353,763 (GRCm39)	P266S	possibly damaging	Het
Ccm2l	A	T	2: 152,912,787 (GRCm39)	I109F	probably damaging	Het
Chst15	A	C	7: 131,871,987 (GRCm39)	L98R	probably damaging	Het
Ctsq	A	G	13: 61,186,737 (GRCm39)	M89T	probably benign	Het
Ddx39b	T	C	17: 35,465,986 (GRCm39)	V169A	probably benign	Het
Fhad1	T	C	4: 141,678,927 (GRCm39)	H583R	probably benign	Het
Fndc1	T	A	17: 8,019,763 (GRCm39)	I139F	probably damaging	Het
Gm7145	C	G	1: 117,913,561 (GRCm39)	H148D	probably benign	Het
Gpr62	C	A	9: 106,342,641 (GRCm39)	A96S	probably damaging	Het
Gsap	T	A	5: 21,475,618 (GRCm39)		probably null	Het
Hdhd5	T	A	6: 120,500,432 (GRCm39)	T89S	probably damaging	Het
Kcna5	T	A	6: 126,510,592 (GRCm39)	Y512F	probably damaging	Het
Krt84	C	A	15: 101,438,044 (GRCm39)	E304*	probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lrp6	C	A	6: 134,484,514 (GRCm39)	V370L	probably benign	Het
Lrrc3c	G	A	11: 98,490,144 (GRCm39)	G167D	probably damaging	Het
Man2b1	C	T	8: 85,813,909 (GRCm39)	T291M	probably benign	Het
Mapkbp1	A	G	2: 119,855,613 (GRCm39)	E1438G	possibly damaging	Het
Med12l	A	G	3: 59,183,438 (GRCm39)	T1947A	probably benign	Het
Myh15	A	T	16: 48,881,937 (GRCm39)	T60S	probably damaging	Het
Myo5a	A	T	9: 75,078,845 (GRCm39)	I868F	probably benign	Het
Myom3	A	T	4: 135,536,162 (GRCm39)	I1278F	probably damaging	Het
Nbn	G	T	4: 15,983,677 (GRCm39)		probably null	Het
Ncam2	G	T	16: 81,287,262 (GRCm39)	S392I	probably damaging	Het
Or10j7	A	T	1: 173,011,890 (GRCm39)	L37Q	possibly damaging	Het
Or2t35	T	C	14: 14,407,251 (GRCm38)	S8P	possibly damaging	Het
Or2y1g	A	T	11: 49,171,185 (GRCm39)	D70V	probably damaging	Het
Or8j3c	T	A	2: 86,253,956 (GRCm39)		probably null	Het
Pcdhb9	A	G	18: 37,534,545 (GRCm39)	N180D	possibly damaging	Het
Pcdhga4	A	G	18: 37,819,972 (GRCm39)	N507S	probably damaging	Het
Pdilt	A	G	7: 119,087,174 (GRCm39)	V492A	probably benign	Het
Phf12	A	G	11: 77,914,366 (GRCm39)	T603A	possibly damaging	Het
Phox2b	T	A	5: 67,254,928 (GRCm39)	I174F	probably benign	Het
Polq	A	T	16: 36,883,215 (GRCm39)	Q1793L	possibly damaging	Het
Prmt9	T	C	8: 78,282,393 (GRCm39)	F97L	probably benign	Het
Prpsap1	T	C	11: 116,384,870 (GRCm39)	E13G	probably benign	Het
Ptpru	A	G	4: 131,546,851 (GRCm39)	L280P	probably damaging	Het
Pygl	A	T	12: 70,244,180 (GRCm39)	M587K	probably benign	Het
Rc3h2	T	C	2: 37,299,659 (GRCm39)	S124G	probably benign	Het
Rdh5	A	G	10: 128,754,184 (GRCm39)	I83T	possibly damaging	Het
Rigi	A	G	4: 40,213,804 (GRCm39)	V618A	probably benign	Het
Ryr2	T	G	13: 11,825,794 (GRCm39)	R561S	probably damaging	Het
Scara3	A	G	14: 66,158,229 (GRCm39)	L593P	probably damaging	Het
Scfd2	T	C	5: 74,692,004 (GRCm39)	I93V	probably benign	Het
Sema4f	C	A	6: 82,894,864 (GRCm39)	V444L	possibly damaging	Het
Slco1a7	T	A	6: 141,719,504 (GRCm39)	M1L	probably damaging	Het
Spata33	T	C	8: 123,941,134 (GRCm39)	L61P	unknown	Het
Stard10	A	T	7: 100,992,343 (GRCm39)		probably null	Het
Stub1	T	C	17: 26,051,038 (GRCm39)	I115V	probably benign	Het
Tlcd3b	T	C	7: 126,426,667 (GRCm39)	F80S	probably damaging	Het
Tmem247	C	T	17: 87,225,710 (GRCm39)	T50I	probably benign	Het
Tnrc6b	A	G	15: 80,771,223 (GRCm39)	M1103V	possibly damaging	Het
Trim61	T	C	8: 65,466,526 (GRCm39)	Y245C	probably benign	Het
Trip13	T	C	13: 74,068,130 (GRCm39)	I284V	probably benign	Het
Trpm4	T	C	7: 44,976,692 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,740,092 (GRCm39)	L3528F	unknown	Het
Ttn	A	G	2: 76,560,918 (GRCm39)	L29161S	probably damaging	Het
Ube2v2	G	A	16: 15,398,948 (GRCm39)	T47I	probably benign	Het
Vwa5b1	C	T	4: 138,302,733 (GRCm39)	A921T	possibly damaging	Het
Xylt1	T	A	7: 117,236,829 (GRCm39)	F526Y	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
R7194:Nrg3	UTSW	14	39,194,435 (GRCm39)	missense	probably benign	0.17
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'- TTTCCAGTCACTTGGTTAGCAC -3'
(R):5'- TTATCCCCAAGGGCCAATTCTG -3'

Sequencing Primer
(F):5'- CAGTCACTTGGTTAGCACAGAGTC -3'
(R):5'- GGCCAATTCTGTGCCCATC -3'

Posted On

2019-06-26