Incidental Mutation 'R7200:Acvr1c'
| ID |
560218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acvr1c
|
| Ensembl Gene |
ENSMUSG00000026834 |
| Gene Name |
activin A receptor, type IC |
| Synonyms |
Alk-7, ALK7 |
| MMRRC Submission |
045278-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7200 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
58157465-58247907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58205867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 31
(V31E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028178]
[ENSMUST00000100085]
[ENSMUST00000112607]
[ENSMUST00000112608]
[ENSMUST00000154453]
|
| AlphaFold |
Q8K348 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028178
AA Change: V81E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028178
Gene: ENSMUSG00000026834
AA Change: V81E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Activin_recp
|
26 |
100 |
3.1e-13 |
PFAM |
|
transmembrane domain
|
114 |
136 |
N/A |
INTRINSIC |
|
GS
|
165 |
195 |
1.07e-13 |
SMART |
|
Blast:TyrKc
|
201 |
472 |
3e-28 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100085
AA Change: V31E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000097663
Gene: ENSMUSG00000026834
AA Change: V31E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
1 |
50 |
1.1e-7 |
PFAM |
|
Pfam:TGF_beta_GS
|
51 |
63 |
2.6e-7 |
PFAM |
|
Pfam:Pkinase
|
65 |
352 |
5.6e-51 |
PFAM |
|
Pfam:Pkinase_Tyr
|
65 |
352 |
4e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112607
AA Change: V81E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108226
Gene: ENSMUSG00000026834
AA Change: V81E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Activin_recp
|
26 |
100 |
3.5e-15 |
PFAM |
|
Pfam:Pkinase
|
51 |
325 |
9.5e-37 |
PFAM |
|
Pfam:Pkinase_Tyr
|
92 |
325 |
4.8e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112608
AA Change: V81E
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108227
Gene: ENSMUSG00000026834
AA Change: V81E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Activin_recp
|
26 |
100 |
4.9e-15 |
PFAM |
|
Pfam:TGF_beta_GS
|
101 |
113 |
1.2e-8 |
PFAM |
|
Pfam:Pkinase
|
115 |
402 |
2.3e-51 |
PFAM |
|
Pfam:Pkinase_Tyr
|
115 |
402 |
1.6e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154453
AA Change: V31E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119776
Gene: ENSMUSG00000026834
AA Change: V31E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
1 |
50 |
2.7e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and overtly normal with no apparent left-right patterning abnormalities or organogenesis defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
G |
11: 65,043,836 (GRCm39) |
M75T |
unknown |
Het |
| 2700049A03Rik |
T |
G |
12: 71,187,680 (GRCm39) |
N105K |
probably damaging |
Het |
| Adra1d |
T |
A |
2: 131,403,170 (GRCm39) |
T307S |
probably benign |
Het |
| Akr1c14 |
T |
C |
13: 4,131,051 (GRCm39) |
Y248H |
probably benign |
Het |
| Ankub1 |
T |
C |
3: 57,580,406 (GRCm39) |
T84A |
probably benign |
Het |
| Asb3 |
C |
A |
11: 30,948,348 (GRCm39) |
S8* |
probably null |
Het |
| AU041133 |
G |
A |
10: 81,986,935 (GRCm39) |
G196D |
possibly damaging |
Het |
| B4galt7 |
T |
C |
13: 55,756,155 (GRCm39) |
C214R |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,254,921 (GRCm39) |
S140P |
possibly damaging |
Het |
| Ciz1 |
T |
C |
2: 32,254,299 (GRCm39) |
L80P |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,949,448 (GRCm39) |
P729L |
possibly damaging |
Het |
| Cr2 |
A |
G |
1: 194,845,557 (GRCm39) |
C133R |
probably damaging |
Het |
| Dmgdh |
T |
C |
13: 93,828,393 (GRCm39) |
L178P |
probably damaging |
Het |
| Dock5 |
C |
A |
14: 68,009,151 (GRCm39) |
E1448* |
probably null |
Het |
| Elavl1 |
A |
G |
8: 4,361,767 (GRCm39) |
S2P |
probably benign |
Het |
| Flywch1 |
T |
C |
17: 23,980,033 (GRCm39) |
H247R |
possibly damaging |
Het |
| Gabpb1 |
A |
T |
2: 126,481,222 (GRCm39) |
I309N |
possibly damaging |
Het |
| Glrx3 |
T |
C |
7: 137,066,165 (GRCm39) |
F298L |
possibly damaging |
Het |
| Gpc6 |
G |
A |
14: 118,202,268 (GRCm39) |
V493I |
probably benign |
Het |
| H2-T13 |
A |
T |
17: 36,391,938 (GRCm39) |
I45N |
possibly damaging |
Het |
| Hadha |
C |
T |
5: 30,350,315 (GRCm39) |
E78K |
probably benign |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
G |
T |
2: 101,943,903 (GRCm39) |
F56L |
probably damaging |
Het |
| Ldlrad3 |
A |
G |
2: 101,943,905 (GRCm39) |
F56L |
probably damaging |
Het |
| Mapk4 |
A |
T |
18: 74,063,990 (GRCm39) |
S411T |
possibly damaging |
Het |
| Mcm9 |
A |
G |
10: 53,492,019 (GRCm39) |
M382T |
|
Het |
| Muc21 |
TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT |
TCCTGAGGCAGTGCTGGAT |
17: 35,933,525 (GRCm39) |
|
probably benign |
Het |
| Or2t6 |
A |
T |
14: 14,175,477 (GRCm38) |
C202S |
probably damaging |
Het |
| Or5b104 |
T |
C |
19: 13,072,596 (GRCm39) |
T139A |
probably benign |
Het |
| Pacs1 |
A |
C |
19: 5,206,441 (GRCm39) |
I248S |
possibly damaging |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,906,810 (GRCm39) |
S631P |
|
Het |
| Rars2 |
A |
T |
4: 34,645,747 (GRCm39) |
K221N |
probably benign |
Het |
| Retsat |
T |
C |
6: 72,583,002 (GRCm39) |
S388P |
possibly damaging |
Het |
| Rft1 |
G |
A |
14: 30,404,814 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
A |
G |
1: 153,660,945 (GRCm39) |
V345A |
probably benign |
Het |
| Rnf38 |
A |
T |
4: 44,137,620 (GRCm39) |
S320R |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,301,451 (GRCm39) |
Y722F |
probably benign |
Het |
| Slc13a4 |
T |
C |
6: 35,264,285 (GRCm39) |
E194G |
possibly damaging |
Het |
| Spata17 |
G |
A |
1: 186,844,700 (GRCm39) |
R300C |
probably benign |
Het |
| Tacc1 |
G |
A |
8: 25,731,656 (GRCm39) |
|
probably benign |
Het |
| Tc2n |
T |
G |
12: 101,655,314 (GRCm39) |
I214L |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,192,953 (GRCm39) |
S494G |
probably benign |
Het |
| Tmco5b |
A |
T |
2: 113,121,722 (GRCm39) |
I179L |
probably damaging |
Het |
| Triobp |
AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA |
AGGGACAA |
15: 78,851,042 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,130,412 (GRCm39) |
T173A |
probably damaging |
Het |
| Vmn2r56 |
C |
T |
7: 12,444,259 (GRCm39) |
G458R |
probably damaging |
Het |
| Vmn2r81 |
T |
G |
10: 79,106,570 (GRCm39) |
|
probably null |
Het |
| Wfdc15b |
T |
A |
2: 164,057,037 (GRCm39) |
E80D |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,812,376 (GRCm39) |
D423E |
probably benign |
Het |
| Zfp775 |
T |
A |
6: 48,597,415 (GRCm39) |
C430S |
possibly damaging |
Het |
|
| Other mutations in Acvr1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00480:Acvr1c
|
APN |
2 |
58,205,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00543:Acvr1c
|
APN |
2 |
58,205,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01287:Acvr1c
|
APN |
2 |
58,170,254 (GRCm39) |
nonsense |
probably null |
|
|
IGL01313:Acvr1c
|
APN |
2 |
58,205,986 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01722:Acvr1c
|
APN |
2 |
58,173,561 (GRCm39) |
splice site |
probably benign |
|
|
R0035:Acvr1c
|
UTSW |
2 |
58,205,791 (GRCm39) |
splice site |
probably benign |
|
|
R0035:Acvr1c
|
UTSW |
2 |
58,205,791 (GRCm39) |
splice site |
probably benign |
|
|
R0329:Acvr1c
|
UTSW |
2 |
58,174,850 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0330:Acvr1c
|
UTSW |
2 |
58,174,850 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1311:Acvr1c
|
UTSW |
2 |
58,170,261 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1465:Acvr1c
|
UTSW |
2 |
58,174,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Acvr1c
|
UTSW |
2 |
58,174,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Acvr1c
|
UTSW |
2 |
58,177,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1813:Acvr1c
|
UTSW |
2 |
58,170,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1896:Acvr1c
|
UTSW |
2 |
58,170,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Acvr1c
|
UTSW |
2 |
58,173,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1939:Acvr1c
|
UTSW |
2 |
58,173,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Acvr1c
|
UTSW |
2 |
58,173,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Acvr1c
|
UTSW |
2 |
58,205,987 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2002:Acvr1c
|
UTSW |
2 |
58,205,987 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2305:Acvr1c
|
UTSW |
2 |
58,171,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Acvr1c
|
UTSW |
2 |
58,170,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Acvr1c
|
UTSW |
2 |
58,205,987 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5121:Acvr1c
|
UTSW |
2 |
58,171,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Acvr1c
|
UTSW |
2 |
58,173,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5381:Acvr1c
|
UTSW |
2 |
58,177,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5383:Acvr1c
|
UTSW |
2 |
58,177,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5647:Acvr1c
|
UTSW |
2 |
58,185,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Acvr1c
|
UTSW |
2 |
58,205,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Acvr1c
|
UTSW |
2 |
58,177,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7137:Acvr1c
|
UTSW |
2 |
58,173,399 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7278:Acvr1c
|
UTSW |
2 |
58,174,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Acvr1c
|
UTSW |
2 |
58,186,129 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8504:Acvr1c
|
UTSW |
2 |
58,173,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9718:Acvr1c
|
UTSW |
2 |
58,206,007 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTAGAGAATTCCACCAGCTG -3'
(R):5'- CCTCTTTCCAGGACTGAAGTG -3'
Sequencing Primer
(F):5'- TAGAGAATTCCACCAGCTGAAAACG -3'
(R):5'- CCAGGACTGAAGTGTGTGTGTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation