Incidental Mutation 'R6848:Nrg1'
| ID |
534862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrg1
|
| Ensembl Gene |
ENSMUSG00000062991 |
| Gene Name |
neuregulin 1 |
| Synonyms |
NDF, Hgl, GGF, HRG, HGL, SMDF, heregulin, D230005F13Rik, HRGalpha, 6030402G23Rik, ARIA, GGFII |
| MMRRC Submission |
045022-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6848 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32308084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 655
(I655T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000208497]
[ENSMUST00000208598]
[ENSMUST00000208617]
[ENSMUST00000208819]
[ENSMUST00000209107]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073884
AA Change: I692T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: I692T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
232 |
N/A |
INTRINSIC |
|
EGF
|
236 |
277 |
7.88e-4 |
SMART |
|
Pfam:Neuregulin
|
295 |
688 |
5.3e-193 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207417
AA Change: I629T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207470
AA Change: I637T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208205
AA Change: I632T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208488
AA Change: I655T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209107
AA Change: I644T
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit heart defects, impaired development of Schwann cell precursors, cranial ganglia, and radial glia cells, and die at embryonic day 10.5-11.5. Heterozygotes are hyperactive with reduced NMDA receptors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
T |
C |
11: 69,775,487 (GRCm39) |
N290S |
probably damaging |
Het |
| Acox3 |
G |
T |
5: 35,749,528 (GRCm39) |
G218C |
probably damaging |
Het |
| Acsf3 |
G |
A |
8: 123,517,329 (GRCm39) |
G375D |
probably damaging |
Het |
| Adamts9 |
G |
T |
6: 92,840,335 (GRCm39) |
N568K |
possibly damaging |
Het |
| Akr1cl |
G |
A |
1: 65,063,928 (GRCm39) |
T87I |
probably damaging |
Het |
| Brcc3dc |
A |
T |
10: 108,535,451 (GRCm39) |
V168E |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Casp16 |
A |
T |
17: 23,770,053 (GRCm39) |
C175* |
probably null |
Het |
| Cast |
T |
C |
13: 74,844,052 (GRCm39) |
K694R |
possibly damaging |
Het |
| Cep70 |
G |
A |
9: 99,144,954 (GRCm39) |
R100H |
probably benign |
Het |
| Cep72 |
C |
T |
13: 74,186,395 (GRCm39) |
A259T |
possibly damaging |
Het |
| Chsy1 |
T |
A |
7: 65,820,785 (GRCm39) |
M340K |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,220,608 (GRCm39) |
S182P |
probably benign |
Het |
| Crlf2 |
A |
C |
5: 109,704,897 (GRCm39) |
F103V |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,159,632 (GRCm39) |
N652S |
probably benign |
Het |
| Ephx4 |
G |
A |
5: 107,574,784 (GRCm39) |
G274D |
probably damaging |
Het |
| Fer |
T |
A |
17: 64,298,601 (GRCm39) |
F517I |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,813,131 (GRCm39) |
H3150L |
probably benign |
Het |
| Gata3 |
T |
A |
2: 9,863,339 (GRCm39) |
N392Y |
possibly damaging |
Het |
| Gria4 |
C |
T |
9: 4,793,822 (GRCm39) |
V79M |
probably damaging |
Het |
| Grk3 |
A |
C |
5: 113,133,641 (GRCm39) |
N60K |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
G |
7: 67,653,927 (GRCm39) |
I155R |
probably damaging |
Het |
| Igsf9 |
T |
C |
1: 172,323,329 (GRCm39) |
L681P |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,648,685 (GRCm39) |
M789T |
probably benign |
Het |
| Kit |
A |
T |
5: 75,767,872 (GRCm39) |
Q85L |
probably benign |
Het |
| Klhdc2 |
T |
A |
12: 69,355,750 (GRCm39) |
C325* |
probably null |
Het |
| Mcidas |
A |
G |
13: 113,130,419 (GRCm39) |
E5G |
probably benign |
Het |
| Mcm5 |
G |
T |
8: 75,853,918 (GRCm39) |
R724L |
possibly damaging |
Het |
| Nrbp2 |
G |
A |
15: 75,963,332 (GRCm39) |
|
probably benign |
Het |
| Nsun4 |
T |
C |
4: 115,910,131 (GRCm39) |
D143G |
possibly damaging |
Het |
| Opn3 |
C |
T |
1: 175,490,615 (GRCm39) |
V349M |
probably damaging |
Het |
| Or51ag1 |
A |
G |
7: 103,155,664 (GRCm39) |
V163A |
possibly damaging |
Het |
| Or5d47 |
A |
T |
2: 87,804,514 (GRCm39) |
V165E |
possibly damaging |
Het |
| Or6d14 |
T |
C |
6: 116,533,736 (GRCm39) |
S117P |
probably damaging |
Het |
| Pank2 |
C |
A |
2: 131,124,546 (GRCm39) |
L297I |
probably damaging |
Het |
| Pcdh20 |
T |
A |
14: 88,704,690 (GRCm39) |
E870V |
probably benign |
Het |
| Pdcd6 |
T |
A |
13: 74,457,959 (GRCm39) |
M71L |
possibly damaging |
Het |
| Phkb |
A |
T |
8: 86,756,246 (GRCm39) |
I847F |
probably damaging |
Het |
| Psmb1 |
A |
G |
17: 15,697,509 (GRCm39) |
F202S |
probably benign |
Het |
| Pwp2 |
C |
G |
10: 78,020,127 (GRCm39) |
|
probably null |
Het |
| Rbms3 |
A |
G |
9: 117,080,809 (GRCm39) |
Y21H |
probably damaging |
Het |
| Rhbdl1 |
T |
A |
17: 26,055,158 (GRCm39) |
K17* |
probably null |
Het |
| Rp1l1 |
C |
A |
14: 64,265,667 (GRCm39) |
Q418K |
possibly damaging |
Het |
| Scpppq1 |
A |
G |
5: 104,222,603 (GRCm39) |
|
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,898,615 (GRCm39) |
V159E |
possibly damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,849,777 (GRCm39) |
T784A |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,551,544 (GRCm39) |
M279T |
probably damaging |
Het |
| Tmem163 |
A |
T |
1: 127,479,117 (GRCm39) |
V134D |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,409,958 (GRCm38) |
N875S |
possibly damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,208,853 (GRCm39) |
E205G |
probably benign |
Het |
| Tpsb2 |
T |
A |
17: 25,586,802 (GRCm39) |
Y271* |
probably null |
Het |
| Ugt3a1 |
G |
A |
15: 9,280,138 (GRCm39) |
|
probably null |
Het |
| Vmn2r67 |
T |
C |
7: 84,801,840 (GRCm39) |
M154V |
probably benign |
Het |
| Zfp740 |
T |
G |
15: 102,117,243 (GRCm39) |
I89S |
probably benign |
Het |
|
| Other mutations in Nrg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Nrg1
|
APN |
8 |
32,308,117 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00500:Nrg1
|
APN |
8 |
32,312,342 (GRCm39) |
splice site |
probably null |
|
|
IGL01150:Nrg1
|
APN |
8 |
32,407,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01998:Nrg1
|
APN |
8 |
32,408,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02010:Nrg1
|
APN |
8 |
32,408,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02501:Nrg1
|
APN |
8 |
32,308,291 (GRCm39) |
splice site |
probably null |
|
|
IGL02741:Nrg1
|
APN |
8 |
32,312,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02754:Nrg1
|
APN |
8 |
32,316,391 (GRCm39) |
splice site |
probably benign |
|
|
IGL03056:Nrg1
|
APN |
8 |
32,311,451 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03121:Nrg1
|
APN |
8 |
32,314,608 (GRCm39) |
splice site |
probably benign |
|
|
R6805_Nrg1_535
|
UTSW |
8 |
32,311,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Nrg1
|
UTSW |
8 |
32,321,273 (GRCm39) |
splice site |
probably null |
|
|
R1170:Nrg1
|
UTSW |
8 |
32,327,695 (GRCm39) |
splice site |
probably benign |
|
|
R1405:Nrg1
|
UTSW |
8 |
32,407,855 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1405:Nrg1
|
UTSW |
8 |
32,407,855 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1486:Nrg1
|
UTSW |
8 |
32,308,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1642:Nrg1
|
UTSW |
8 |
32,314,536 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1653:Nrg1
|
UTSW |
8 |
32,308,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Nrg1
|
UTSW |
8 |
32,312,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1951:Nrg1
|
UTSW |
8 |
32,408,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Nrg1
|
UTSW |
8 |
32,408,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2912:Nrg1
|
UTSW |
8 |
32,308,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3786:Nrg1
|
UTSW |
8 |
32,311,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4513:Nrg1
|
UTSW |
8 |
32,967,105 (GRCm39) |
intron |
probably benign |
|
|
R4569:Nrg1
|
UTSW |
8 |
32,407,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4760:Nrg1
|
UTSW |
8 |
32,408,228 (GRCm39) |
nonsense |
probably null |
|
|
R4769:Nrg1
|
UTSW |
8 |
32,408,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Nrg1
|
UTSW |
8 |
32,407,747 (GRCm39) |
missense |
probably benign |
|
|
R5058:Nrg1
|
UTSW |
8 |
32,314,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Nrg1
|
UTSW |
8 |
32,308,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5443:Nrg1
|
UTSW |
8 |
32,339,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5479:Nrg1
|
UTSW |
8 |
32,308,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5940:Nrg1
|
UTSW |
8 |
32,339,372 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6010:Nrg1
|
UTSW |
8 |
32,308,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Nrg1
|
UTSW |
8 |
32,308,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Nrg1
|
UTSW |
8 |
33,373,749 (GRCm39) |
start gained |
probably benign |
|
|
R6460:Nrg1
|
UTSW |
8 |
32,308,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6750:Nrg1
|
UTSW |
8 |
32,308,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Nrg1
|
UTSW |
8 |
32,407,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6802:Nrg1
|
UTSW |
8 |
32,311,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:Nrg1
|
UTSW |
8 |
32,311,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6805:Nrg1
|
UTSW |
8 |
32,311,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Nrg1
|
UTSW |
8 |
32,308,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6963:Nrg1
|
UTSW |
8 |
32,407,690 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7070:Nrg1
|
UTSW |
8 |
32,339,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7176:Nrg1
|
UTSW |
8 |
32,458,064 (GRCm39) |
nonsense |
probably null |
|
|
R7490:Nrg1
|
UTSW |
8 |
32,308,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7526:Nrg1
|
UTSW |
8 |
32,308,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7664:Nrg1
|
UTSW |
8 |
32,499,169 (GRCm39) |
splice site |
probably null |
|
|
R7881:Nrg1
|
UTSW |
8 |
32,328,352 (GRCm39) |
nonsense |
probably null |
|
|
R8013:Nrg1
|
UTSW |
8 |
32,439,951 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8342:Nrg1
|
UTSW |
8 |
32,312,334 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8759:Nrg1
|
UTSW |
8 |
32,308,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Nrg1
|
UTSW |
8 |
32,448,629 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9319:Nrg1
|
UTSW |
8 |
32,323,204 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9429:Nrg1
|
UTSW |
8 |
32,308,592 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9535:Nrg1
|
UTSW |
8 |
32,439,995 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9632:Nrg1
|
UTSW |
8 |
32,407,621 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1088:Nrg1
|
UTSW |
8 |
32,408,033 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACCATTGATATCTTTCTCG -3'
(R):5'- AAGTTCTGTGAGCAGTAACTCAG -3'
Sequencing Primer
(F):5'- TTCTATTTGCAGAACTGCT -3'
(R):5'- TTCTGTGAGCAGTAACTCAGAAAGTG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation