Incidental Mutation 'R2009:Nrg3'
| ID |
219387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrg3
|
| Ensembl Gene |
ENSMUSG00000041014 |
| Gene Name |
neuregulin 3 |
| Synonyms |
ska |
| MMRRC Submission |
040018-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R2009 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
38090909-39195045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38092771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 605
(S605P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166968]
[ENSMUST00000168810]
[ENSMUST00000173780]
|
| AlphaFold |
O35181 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166968
AA Change: S621P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136884
Gene: ENSMUSG00000041014
AA Change: S621P
| 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 damaging
Transcript: ENSMUST00000168810
AA Change: S605P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129783
Gene: ENSMUSG00000041014
AA Change: S605P
| 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 damaging
Transcript: ENSMUST00000173780
AA Change: S597P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134727
Gene: ENSMUSG00000041014
AA Change: S597P
| 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 |
|
| Meta Mutation Damage Score |
0.4062 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
T |
A |
9: 30,833,433 (GRCm39) |
D34V |
probably benign |
Het |
| Adgrf1 |
A |
T |
17: 43,632,112 (GRCm39) |
R884* |
probably null |
Het |
| Adgrg7 |
T |
C |
16: 56,582,236 (GRCm39) |
T301A |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,530,988 (GRCm39) |
I1366T |
probably damaging |
Het |
| C1s2 |
A |
T |
6: 124,612,048 (GRCm39) |
L112H |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,042,391 (GRCm39) |
|
noncoding transcript |
Het |
| Cfap74 |
G |
A |
4: 155,504,724 (GRCm39) |
R103H |
possibly damaging |
Het |
| Col7a1 |
A |
T |
9: 108,797,943 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
A |
G |
5: 104,360,706 (GRCm39) |
S461G |
probably damaging |
Het |
| Eif4g2 |
A |
T |
7: 110,673,405 (GRCm39) |
D753E |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etv4 |
T |
C |
11: 101,665,063 (GRCm39) |
D130G |
probably damaging |
Het |
| Gabbr2 |
A |
T |
4: 46,734,119 (GRCm39) |
I533N |
probably damaging |
Het |
| Gne |
T |
C |
4: 44,055,273 (GRCm39) |
E234G |
probably benign |
Het |
| Itga6 |
C |
A |
2: 71,647,025 (GRCm39) |
N78K |
probably benign |
Het |
| Lap3 |
C |
T |
5: 45,650,899 (GRCm39) |
T33M |
probably benign |
Het |
| Limd1 |
A |
G |
9: 123,308,564 (GRCm39) |
S88G |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,380,385 (GRCm39) |
T3922K |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,971,517 (GRCm39) |
|
probably benign |
Het |
| Mib1 |
T |
C |
18: 10,812,118 (GRCm39) |
L263S |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,216,427 (GRCm39) |
S1474G |
probably benign |
Het |
| Nkapl |
A |
C |
13: 21,651,607 (GRCm39) |
S335R |
probably damaging |
Het |
| Or10x4 |
G |
T |
1: 174,218,995 (GRCm39) |
R120L |
possibly damaging |
Het |
| Or52b3 |
A |
G |
7: 102,204,151 (GRCm39) |
Y220C |
probably damaging |
Het |
| Patj |
G |
A |
4: 98,344,406 (GRCm39) |
D577N |
probably damaging |
Het |
| Pfpl |
A |
C |
19: 12,407,319 (GRCm39) |
K523N |
possibly damaging |
Het |
| Pik3c2a |
A |
C |
7: 115,963,738 (GRCm39) |
L924R |
probably damaging |
Het |
| Pkd2l1 |
C |
A |
19: 44,144,403 (GRCm39) |
R278L |
probably benign |
Het |
| Prss2 |
A |
T |
6: 41,500,910 (GRCm39) |
I108F |
probably damaging |
Het |
| Rnase2b |
A |
G |
14: 51,400,347 (GRCm39) |
T143A |
possibly damaging |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Sphk2 |
A |
T |
7: 45,360,437 (GRCm39) |
H522Q |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,235,261 (GRCm39) |
|
probably null |
Het |
| Tmem88 |
C |
A |
11: 69,288,602 (GRCm39) |
A106S |
probably damaging |
Het |
| Trappc14 |
C |
A |
5: 138,259,191 (GRCm39) |
C434F |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,574,646 (GRCm39) |
L252S |
possibly damaging |
Het |
| Trim60 |
T |
A |
8: 65,453,975 (GRCm39) |
E91D |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,641,475 (GRCm39) |
I145T |
possibly damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,729 (GRCm39) |
M761L |
probably benign |
Het |
| Wdr4 |
G |
A |
17: 31,719,584 (GRCm39) |
|
probably benign |
Het |
| Wfs1 |
A |
T |
5: 37,125,653 (GRCm39) |
S413T |
probably damaging |
Het |
| Wnt2 |
A |
T |
6: 18,030,208 (GRCm39) |
W27R |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,651,158 (GRCm39) |
H687Q |
probably damaging |
Het |
| Zfp750 |
G |
A |
11: 121,403,951 (GRCm39) |
P308L |
possibly 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 |
|
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 |
|
|
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'- AAAGGCTGTGTTTTCGCTCG -3'
(R):5'- TGTGTCCAATGGCTTAAGAACC -3'
Sequencing Primer
(F):5'- GCTCGCACTGTCCTCAG -3'
(R):5'- TATGCAACTGCCTTCAAGAGAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation