Incidental Mutation 'R6785:Prrg2'
ID 531622
Institutional Source Beutler Lab
Gene Symbol Prrg2
Ensembl Gene ENSMUSG00000007837
Gene Name proline-rich Gla (G-carboxyglutamic acid) polypeptide 2
Synonyms N4WBP1, 2510041M06Rik, 1600014G02Rik
MMRRC Submission 044899-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6785 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44703008-44711828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44709649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 83 (F83L)
Ref Sequence ENSEMBL: ENSMUSP00000147977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003513] [ENSMUST00000007981] [ENSMUST00000107829] [ENSMUST00000209219] [ENSMUST00000209920] [ENSMUST00000210088] [ENSMUST00000210101] [ENSMUST00000210493] [ENSMUST00000210500] [ENSMUST00000210520] [ENSMUST00000210690] [ENSMUST00000211014] [ENSMUST00000211337] [ENSMUST00000211465]
AlphaFold Q8R182
Predicted Effect probably benign
Transcript: ENSMUST00000003513
SMART Domains Protein: ENSMUSP00000003513
Gene: ENSMUSG00000003421

DomainStartEndE-ValueType
Pfam:zf-NOSIP 4 78 1.2e-55 PFAM
coiled coil region 83 108 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000007981
AA Change: F83L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000007981
Gene: ENSMUSG00000007837
AA Change: F83L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
GLA 30 97 4.2e-27 SMART
transmembrane domain 112 134 N/A INTRINSIC
low complexity region 156 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107829
SMART Domains Protein: ENSMUSP00000103460
Gene: ENSMUSG00000003421

DomainStartEndE-ValueType
SCOP:d1rmd_2 31 79 2e-4 SMART
Blast:RING 46 226 4e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000209219
Predicted Effect probably benign
Transcript: ENSMUST00000209920
Predicted Effect probably benign
Transcript: ENSMUST00000210088
Predicted Effect probably damaging
Transcript: ENSMUST00000210101
AA Change: F83L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210493
AA Change: F58L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210500
AA Change: F74L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210520
Predicted Effect probably damaging
Transcript: ENSMUST00000210690
AA Change: F83L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211014
AA Change: F83L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211337
Predicted Effect probably benign
Transcript: ENSMUST00000211465
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 A G 2: 22,843,479 (GRCm39) V316A probably benign Het
Acad12 T C 5: 121,747,908 (GRCm39) Y170C probably damaging Het
Acss2 T C 2: 155,402,605 (GRCm39) V587A probably damaging Het
Adamtsl3 A G 7: 82,171,212 (GRCm39) I422V probably damaging Het
Aldh18a1 A G 19: 40,556,788 (GRCm39) L375P probably damaging Het
B020011L13Rik A G 1: 117,728,799 (GRCm39) D102G possibly damaging Het
Cfap74 T A 4: 155,538,481 (GRCm39) probably benign Het
Coa4 G A 7: 100,188,460 (GRCm39) V58M probably damaging Het
Crybg1 T C 10: 43,875,167 (GRCm39) N647S probably benign Het
Dync1h1 G A 12: 110,596,113 (GRCm39) G1547S probably damaging Het
Espnl A G 1: 91,249,943 (GRCm39) D30G probably benign Het
Fasl T A 1: 161,609,404 (GRCm39) Y194F probably benign Het
Fbxw8 T C 5: 118,230,754 (GRCm39) E349G probably damaging Het
Gen1 A G 12: 11,312,531 (GRCm39) V13A possibly damaging Het
Gm4559 A G 7: 141,827,845 (GRCm39) C86R unknown Het
H2-M9 T C 17: 36,953,125 (GRCm39) N61D probably damaging Het
H6pd C T 4: 150,067,247 (GRCm39) E380K possibly damaging Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Hnrnpd C A 5: 100,126,283 (GRCm39) K67N probably benign Het
Hspg2 T C 4: 137,235,709 (GRCm39) S170P probably damaging Het
Igsf10 G T 3: 59,226,665 (GRCm39) P2336Q probably damaging Het
Itih3 C T 14: 30,634,572 (GRCm39) probably null Het
Katnb1 T C 8: 95,822,270 (GRCm39) Y298H probably benign Het
Kif21a A T 15: 90,819,933 (GRCm39) N1610K probably damaging Het
Lce1l A T 3: 92,757,500 (GRCm39) C119* probably null Het
Lcn2 C T 2: 32,277,039 (GRCm39) probably null Het
Lmf2 A T 15: 89,236,236 (GRCm39) S588T probably benign Het
Mboat7 A G 7: 3,688,835 (GRCm39) L231P probably benign Het
Mier2 T C 10: 79,380,547 (GRCm39) R288G probably damaging Het
Mybbp1a T C 11: 72,338,392 (GRCm39) V694A probably benign Het
Ndnf C A 6: 65,680,047 (GRCm39) L109I probably benign Het
Nfkb1 C A 3: 135,321,064 (GRCm39) E230D probably benign Het
Nostrin A G 2: 69,014,271 (GRCm39) K409R probably benign Het
Or1j10 A G 2: 36,266,854 (GRCm39) Q22R probably benign Het
Or1j10 C A 2: 36,266,963 (GRCm39) Y58* probably null Het
Or8k35 T A 2: 86,424,765 (GRCm39) M136L probably damaging Het
Pdpr C A 8: 111,851,243 (GRCm39) T534N probably benign Het
Plekhf1 G A 7: 37,921,488 (GRCm39) Q27* probably null Het
Ppp6c A T 2: 39,087,593 (GRCm39) H204Q probably benign Het
Prrc2c T C 1: 162,536,670 (GRCm39) probably benign Het
Rab11fip3 T G 17: 26,210,692 (GRCm39) D938A probably damaging Het
Rai1 A G 11: 60,079,620 (GRCm39) N1228S probably benign Het
Ryr1 G T 7: 28,764,299 (GRCm39) T3060K probably benign Het
Scube2 A G 7: 109,409,824 (GRCm39) I557T probably benign Het
Setdb1 C A 3: 95,233,712 (GRCm39) R1066L probably benign Het
Shoc1 T C 4: 59,049,066 (GRCm39) M1100V probably benign Het
Slc35f3 T C 8: 127,121,198 (GRCm39) V353A probably benign Het
Slfn3 A T 11: 83,105,427 (GRCm39) T475S possibly damaging Het
Snrnp200 T A 2: 127,071,085 (GRCm39) M1122K possibly damaging Het
Tead4 T A 6: 128,219,444 (GRCm39) K223* probably null Het
Tex2 A C 11: 106,424,776 (GRCm39) I334R probably damaging Het
Tfdp1 C T 8: 13,420,485 (GRCm39) R105W probably damaging Het
Tfdp1 G T 8: 13,427,233 (GRCm39) V393F possibly damaging Het
Thsd7b T C 1: 129,358,644 (GRCm39) L26P probably damaging Het
Trim80 T C 11: 115,332,027 (GRCm39) I73T probably damaging Het
Tssk4 T A 14: 55,887,932 (GRCm39) Y43N probably damaging Het
Ttn T C 2: 76,541,839 (GRCm39) T25389A probably damaging Het
Ttn A T 2: 76,578,288 (GRCm39) F24202I probably damaging Het
Vmn1r177 A G 7: 23,565,562 (GRCm39) S105P probably damaging Het
Vmn2r40 T A 7: 8,911,203 (GRCm39) T697S probably benign Het
Zfp267 T A 3: 36,219,601 (GRCm39) C541* probably null Het
Other mutations in Prrg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02629:Prrg2 APN 7 44,706,166 (GRCm39) critical splice donor site probably null
R6624:Prrg2 UTSW 7 44,709,410 (GRCm39) missense probably damaging 1.00
R6889:Prrg2 UTSW 7 44,709,413 (GRCm39) missense possibly damaging 0.61
R7468:Prrg2 UTSW 7 44,709,687 (GRCm39) missense probably benign 0.00
R9491:Prrg2 UTSW 7 44,706,218 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCGCTCCTAGGGTTAGAG -3'
(R):5'- AGGACTCTGCTTTTGACTCTGATG -3'

Sequencing Primer
(F):5'- CGCTCCTAGGGTTAGAGAAGAG -3'
(R):5'- GACTCTGATGTCCTTAGTTCTTGAC -3'
Posted On 2018-08-29