Incidental Mutation 'R5091:Nrg2'
| ID |
387780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrg2
|
| Ensembl Gene |
ENSMUSG00000060275 |
| Gene Name |
neuregulin 2 |
| Synonyms |
Don1, NTAK |
| MMRRC Submission |
042680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R5091 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
36150705-36330433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36185838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 300
(N300K)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000111370
Gene: ENSMUSG00000060275
| 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 |
unknown
Transcript: ENSMUST00000115712
AA Change: N120K
|
| SMART Domains |
Protein: ENSMUSP00000111377
Gene: ENSMUSG00000060275
AA Change: N120K
| 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 damaging
Transcript: ENSMUST00000115713
AA Change: N300K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111378
Gene: ENSMUSG00000060275
AA Change: N300K
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
96% (67/70) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
G |
13: 54,701,057 (GRCm39) |
S174P |
probably damaging |
Het |
| 4931414P19Rik |
T |
C |
14: 54,823,168 (GRCm39) |
E343G |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,851,497 (GRCm39) |
V825A |
probably damaging |
Het |
| Abca8b |
G |
T |
11: 109,827,210 (GRCm39) |
T1466K |
possibly damaging |
Het |
| Adcy8 |
A |
G |
15: 64,678,553 (GRCm39) |
S467P |
probably damaging |
Het |
| Agbl4 |
T |
C |
4: 110,976,237 (GRCm39) |
V198A |
possibly damaging |
Het |
| Agpat4 |
A |
G |
17: 12,417,699 (GRCm39) |
K80R |
probably benign |
Het |
| Akap8 |
T |
C |
17: 32,535,208 (GRCm39) |
T269A |
probably benign |
Het |
| Ankhd1 |
A |
T |
18: 36,758,080 (GRCm39) |
I925F |
possibly damaging |
Het |
| Aste1 |
A |
G |
9: 105,282,203 (GRCm39) |
Y57C |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,247,980 (GRCm39) |
S7P |
possibly damaging |
Het |
| BC051019 |
T |
A |
7: 109,319,789 (GRCm39) |
R91S |
probably null |
Het |
| Cavin2 |
C |
A |
1: 51,340,398 (GRCm39) |
N358K |
probably benign |
Het |
| Cd2 |
T |
C |
3: 101,190,355 (GRCm39) |
N196S |
probably benign |
Het |
| Clca3a1 |
C |
T |
3: 144,436,483 (GRCm39) |
V867I |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,952,262 (GRCm39) |
K545N |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,268,679 (GRCm39) |
|
probably null |
Het |
| Cyp2c65 |
A |
T |
19: 39,076,009 (GRCm39) |
|
probably null |
Het |
| Dcaf6 |
T |
C |
1: 165,157,572 (GRCm39) |
D856G |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,949,580 (GRCm39) |
I181T |
probably damaging |
Het |
| Esrp2 |
A |
G |
8: 106,859,061 (GRCm39) |
S562P |
probably damaging |
Het |
| Fcgbpl1 |
A |
C |
7: 27,856,383 (GRCm39) |
I2057L |
probably benign |
Het |
| Ffar4 |
A |
G |
19: 38,085,627 (GRCm39) |
D18G |
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,296,347 (GRCm39) |
V337I |
probably damaging |
Het |
| Gimap8 |
C |
T |
6: 48,633,581 (GRCm39) |
P467S |
possibly damaging |
Het |
| Gnl3 |
T |
A |
14: 30,738,803 (GRCm39) |
H82L |
possibly damaging |
Het |
| Grid2 |
T |
C |
6: 64,053,862 (GRCm39) |
S354P |
probably benign |
Het |
| Ighmbp2 |
T |
A |
19: 3,315,084 (GRCm39) |
T779S |
possibly damaging |
Het |
| Ints15 |
C |
T |
5: 143,293,443 (GRCm39) |
E345K |
possibly damaging |
Het |
| Kif19a |
C |
A |
11: 114,673,923 (GRCm39) |
T348N |
probably damaging |
Het |
| Lrrc15 |
T |
A |
16: 30,092,172 (GRCm39) |
N389I |
probably damaging |
Het |
| Mrps26 |
A |
G |
2: 130,405,886 (GRCm39) |
Y63C |
probably damaging |
Het |
| Myd88 |
C |
A |
9: 119,166,889 (GRCm39) |
V223F |
possibly damaging |
Het |
| Nox4 |
T |
A |
7: 87,025,450 (GRCm39) |
W526R |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 24,950,464 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
A |
C |
2: 121,954,283 (GRCm39) |
H429Q |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,568,907 (GRCm39) |
K18* |
probably null |
Het |
| Peg10 |
T |
A |
6: 4,754,511 (GRCm39) |
D97E |
probably benign |
Het |
| Runx1t1 |
C |
T |
4: 13,846,830 (GRCm39) |
Q205* |
probably null |
Het |
| Selenon |
T |
C |
4: 134,275,284 (GRCm39) |
K138R |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,262,000 (GRCm39) |
E369G |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,248,190 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
A |
T |
7: 27,068,816 (GRCm39) |
M499K |
probably damaging |
Het |
| Sra1 |
A |
T |
18: 36,803,012 (GRCm39) |
|
probably benign |
Het |
| Stra6 |
T |
C |
9: 58,048,429 (GRCm39) |
L174P |
probably damaging |
Het |
| Syngr1 |
T |
C |
15: 80,000,086 (GRCm39) |
Y66H |
probably damaging |
Het |
| Synpo |
G |
T |
18: 60,735,831 (GRCm39) |
S466* |
probably null |
Het |
| Tenm3 |
T |
A |
8: 48,795,343 (GRCm39) |
M595L |
probably benign |
Het |
| Tnks |
T |
C |
8: 35,308,963 (GRCm39) |
T1099A |
probably benign |
Het |
| Tram1l1 |
G |
T |
3: 124,115,400 (GRCm39) |
V187F |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,965,639 (GRCm39) |
E529G |
probably benign |
Het |
| Usp17la |
T |
C |
7: 104,510,139 (GRCm39) |
V248A |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,519,392 (GRCm39) |
Y880H |
probably benign |
Het |
| Vmn1r214 |
C |
T |
13: 23,219,571 (GRCm39) |
T355I |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,205 (GRCm39) |
K784R |
possibly damaging |
Het |
| Wrap53 |
C |
T |
11: 69,453,273 (GRCm39) |
W389* |
probably null |
Het |
| Zfp748 |
A |
G |
13: 67,689,638 (GRCm39) |
S541P |
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 |
|
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 |
|
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'- GTCCATGGTGTGCAATCTCAGG -3'
(R):5'- ACTGGCACTGTTCTCACCAC -3'
Sequencing Primer
(F):5'- TGTGCAATCTCAGGGCAGG -3'
(R):5'- GACACTCACTTACCTGCCTTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation