Incidental Mutation 'R1813:Acvr1c'
ID 202527
Institutional Source Beutler Lab
Gene Symbol Acvr1c
Ensembl Gene ENSMUSG00000026834
Gene Name activin A receptor, type IC
Synonyms Alk-7, ALK7
MMRRC Submission 039841-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1813 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 58157465-58247907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 58170306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 277 (V277G)
Ref Sequence ENSEMBL: ENSMUSP00000108226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028178] [ENSMUST00000100085] [ENSMUST00000112607] [ENSMUST00000112608]
AlphaFold Q8K348
Predicted Effect probably damaging
Transcript: ENSMUST00000028178
AA Change: V434G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028178
Gene: ENSMUSG00000026834
AA Change: V434G

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000100085
AA Change: V304G
SMART Domains Protein: ENSMUSP00000097663
Gene: ENSMUSG00000026834
AA Change: V304G

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000112607
AA Change: V277G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108226
Gene: ENSMUSG00000026834
AA Change: V277G

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000112608
AA Change: V354G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108227
Gene: ENSMUSG00000026834
AA Change: V354G

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000131189
Meta Mutation Damage Score 0.8211 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.8%
  • 20x: 90.3%
Validation Efficiency 96% (79/82)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,543,236 (GRCm39) N595Y probably benign Het
Abca6 A G 11: 110,124,671 (GRCm39) probably benign Het
Abo C A 2: 26,733,609 (GRCm39) D199Y probably damaging Het
Adam23 G A 1: 63,584,731 (GRCm39) A380T probably benign Het
Art2b A G 7: 101,229,236 (GRCm39) V221A probably benign Het
Bcam A G 7: 19,500,640 (GRCm39) S153P probably damaging Het
Brip1 T C 11: 86,077,906 (GRCm39) H174R possibly damaging Het
Ccdc186 T C 19: 56,788,601 (GRCm39) D536G probably benign Het
Cd109 A G 9: 78,524,287 (GRCm39) N67S probably benign Het
Cd8a G T 6: 71,350,947 (GRCm39) M137I possibly damaging Het
Ces2g T C 8: 105,693,569 (GRCm39) F417L probably benign Het
Clec2g A G 6: 128,925,660 (GRCm39) N23S unknown Het
Cntnap2 T C 6: 46,507,567 (GRCm39) Y61C probably damaging Het
Cog3 T A 14: 75,979,784 (GRCm39) E182D probably benign Het
Dbpht2 A G 12: 74,342,624 (GRCm39) noncoding transcript Het
Dock4 A T 12: 40,686,227 (GRCm39) N154I probably damaging Het
Dysf T G 6: 84,128,906 (GRCm39) V1422G possibly damaging Het
E2f3 T C 13: 30,104,159 (GRCm39) D140G probably damaging Het
Efcab3 A G 11: 104,611,514 (GRCm39) K452R probably benign Het
Epb41l2 T A 10: 25,317,466 (GRCm39) probably null Het
Epha2 A G 4: 141,035,857 (GRCm39) K98E possibly damaging Het
Esyt1 T C 10: 128,355,487 (GRCm39) D444G probably benign Het
Fam163a T C 1: 155,955,787 (GRCm39) T2A probably damaging Het
Foxp2 A T 6: 15,379,767 (GRCm39) probably benign Het
Gcm2 T C 13: 41,259,367 (GRCm39) H34R probably benign Het
Gipr A G 7: 18,897,996 (GRCm39) S79P probably benign Het
Gli3 T C 13: 15,823,276 (GRCm39) S333P probably damaging Het
Gm10717 T G 9: 3,026,317 (GRCm39) F205C probably damaging Het
Gzmk A G 13: 113,309,427 (GRCm39) S208P probably damaging Het
Htra2 G T 6: 83,028,583 (GRCm39) A318D probably damaging Het
Itpkc T C 7: 26,907,805 (GRCm39) D633G probably damaging Het
Lama1 G A 17: 68,098,218 (GRCm39) R1805H probably benign Het
Lama4 T A 10: 38,909,121 (GRCm39) probably benign Het
Lama4 T C 10: 38,936,182 (GRCm39) V619A probably damaging Het
Notch3 T C 17: 32,362,402 (GRCm39) T1408A probably benign Het
Nwd2 A G 5: 63,962,753 (GRCm39) D779G probably benign Het
Nxpe4 A G 9: 48,304,678 (GRCm39) Y255C possibly damaging Het
Obox6 A T 7: 15,568,770 (GRCm39) H35Q possibly damaging Het
Or2ab1 A G 11: 58,489,133 (GRCm39) I304V probably damaging Het
Or8b41 T A 9: 38,055,025 (GRCm39) I198N possibly damaging Het
Pkig T A 2: 163,563,147 (GRCm39) I26N possibly damaging Het
Plekhm2 C T 4: 141,369,750 (GRCm39) V82M possibly damaging Het
Plppr2 G A 9: 21,859,220 (GRCm39) A446T probably damaging Het
Psme4 T A 11: 30,754,353 (GRCm39) F203L probably benign Het
Sh3bp1 A G 15: 78,787,880 (GRCm39) K137E probably damaging Het
Shisa5 T A 9: 108,885,108 (GRCm39) I126N probably damaging Het
Slc11a1 T C 1: 74,414,931 (GRCm39) L21P probably benign Het
Slc35f1 C T 10: 52,809,291 (GRCm39) P93S probably damaging Het
Slc4a4 A G 5: 89,194,167 (GRCm39) T172A probably damaging Het
Slc9c1 A T 16: 45,393,710 (GRCm39) Y551F probably benign Het
Spata31 T C 13: 65,069,612 (GRCm39) S587P probably benign Het
Syna C A 5: 134,588,006 (GRCm39) M314I probably benign Het
Taf5l A G 8: 124,730,152 (GRCm39) L144P probably damaging Het
Tbccd1 T C 16: 22,641,271 (GRCm39) T369A probably benign Het
Tnfrsf11b A T 15: 54,119,493 (GRCm39) C160* probably null Het
Trim45 A G 3: 100,830,283 (GRCm39) N19S probably benign Het
Uba2 A G 7: 33,850,455 (GRCm39) F364S probably damaging Het
Unc50 T A 1: 37,476,323 (GRCm39) L161Q probably damaging Het
Uso1 A T 5: 92,348,992 (GRCm39) probably null Het
Usp25 A G 16: 76,911,838 (GRCm39) I956V probably benign Het
Utf1 C A 7: 139,524,213 (GRCm39) L143I probably damaging Het
Vmn1r158 C T 7: 22,490,143 (GRCm39) C22Y probably damaging Het
Vmn1r36 T A 6: 66,693,756 (GRCm39) M40L probably benign Het
Vmn2r43 A G 7: 8,258,055 (GRCm39) V386A possibly damaging Het
Vps9d1 C A 8: 123,973,778 (GRCm39) R335L probably damaging Het
Wasf1 T A 10: 40,802,585 (GRCm39) V80D probably damaging Het
Wdr72 G A 9: 74,183,298 (GRCm39) V1077I possibly damaging Het
Wnt8a A G 18: 34,675,422 (GRCm39) M1V probably null Het
Zbtb26 A G 2: 37,326,347 (GRCm39) S230P possibly damaging Het
Zfp335 A G 2: 164,734,525 (GRCm39) V1247A probably damaging Het
Zfp429 T C 13: 67,538,505 (GRCm39) N313S possibly damaging Het
Zfp74 A T 7: 29,634,569 (GRCm39) C380S probably damaging Het
Zfyve21 G A 12: 111,791,328 (GRCm39) E134K probably damaging Het
Zmynd11 T C 13: 9,739,616 (GRCm39) T474A possibly damaging Het
Other mutations in Acvr1c
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7200:Acvr1c UTSW 2 58,205,867 (GRCm39) missense probably damaging 1.00
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'- TGACTGGGGAGGAGCATGAC -3'
(R):5'- TTTCCAGGATACCGTGTGTG -3'

Sequencing Primer
(F):5'- TGACTGGGGAGGAGCATGAC -3'
(R):5'- GTTGGGCGGAAGTCAGTGTTATTAAC -3'
Posted On 2014-06-23