Incidental Mutation 'R6889:Prrg2'
ID 537105
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 044983-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6889 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 44703008-44711828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44709413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 97 (T97M)
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 possibly damaging
Transcript: ENSMUST00000007981
AA Change: T97M

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000007981
Gene: ENSMUSG00000007837
AA Change: T97M

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 silent
Transcript: ENSMUST00000209219
Predicted Effect silent
Transcript: ENSMUST00000209920
Predicted Effect probably benign
Transcript: ENSMUST00000210088
Predicted Effect possibly damaging
Transcript: ENSMUST00000210101
AA Change: T97M

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210493
AA Change: T72M

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000210500
AA Change: T88M

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000210520
Predicted Effect possibly damaging
Transcript: ENSMUST00000210690
AA Change: T97M

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211014
AA Change: T97M

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect silent
Transcript: ENSMUST00000211337
Predicted Effect probably benign
Transcript: ENSMUST00000211465
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,861,290 (GRCm39) D103E probably benign Het
Abcc3 A T 11: 94,266,381 (GRCm39) S70T possibly damaging Het
Atp6v0a1 A G 11: 100,920,009 (GRCm39) Y214C possibly damaging Het
Azi2 A G 9: 117,878,963 (GRCm39) probably null Het
Cacnb2 T A 2: 14,990,826 (GRCm39) V636E possibly damaging Het
Cd8a A C 6: 71,351,546 (GRCm39) T169P probably damaging Het
Cfap44 G A 16: 44,224,495 (GRCm39) V68I probably benign Het
Cspg4b C A 13: 113,454,912 (GRCm39) S319R probably damaging Het
Dnaaf10 G A 11: 17,172,309 (GRCm39) V133M probably damaging Het
Eea1 G T 10: 95,873,340 (GRCm39) C1134F probably benign Het
Ehmt2 T G 17: 35,131,748 (GRCm39) F1192V probably damaging Het
Emc1 T C 4: 139,092,661 (GRCm39) F531L probably damaging Het
Eme1 G A 11: 94,541,303 (GRCm39) T173I probably benign Het
Gli2 A T 1: 118,772,146 (GRCm39) C520S probably damaging Het
Gm43302 T C 5: 105,428,004 (GRCm39) K186E probably benign Het
Gpr108 A T 17: 57,543,990 (GRCm39) N405K probably damaging Het
Hmgcl C A 4: 135,682,953 (GRCm39) T135N probably benign Het
Hydin G A 8: 111,259,488 (GRCm39) D2487N possibly damaging Het
Igfl3 G T 7: 17,913,725 (GRCm39) R25L probably benign Het
Igsf10 A C 3: 59,239,354 (GRCm39) S276A probably benign Het
Kctd1 A G 18: 15,107,045 (GRCm39) S211P probably damaging Het
Kctd7 A T 5: 130,181,342 (GRCm39) Q255L probably benign Het
Lrig1 A G 6: 94,602,044 (GRCm39) Y270H probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myh15 A G 16: 48,973,474 (GRCm39) N1248S possibly damaging Het
Nod1 A G 6: 54,921,094 (GRCm39) F408S probably benign Het
Nrp1 T C 8: 129,219,538 (GRCm39) F652S probably damaging Het
Opa1 G T 16: 29,439,686 (GRCm39) R792L probably benign Het
Or10ak14 G A 4: 118,611,504 (GRCm39) T79I probably damaging Het
Or51t4 A T 7: 102,597,975 (GRCm39) H91L possibly damaging Het
Or5p63 A T 7: 107,811,125 (GRCm39) F204I probably benign Het
Or6c74 T C 10: 129,870,401 (GRCm39) M302T probably benign Het
Pcdha6 G T 18: 37,101,396 (GRCm39) L196F probably damaging Het
Pdia2 A T 17: 26,415,944 (GRCm39) Y347* probably null Het
Pdpr G T 8: 111,851,245 (GRCm39) probably null Het
Pigt T A 2: 164,349,251 (GRCm39) L518Q probably damaging Het
Ppfibp2 A C 7: 107,337,188 (GRCm39) D591A possibly damaging Het
Qars1 A G 9: 108,390,382 (GRCm39) T428A probably damaging Het
Rai1 T C 11: 60,076,541 (GRCm39) F202L probably damaging Het
Rars1 A T 11: 35,699,313 (GRCm39) M660K probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc16a6 A C 11: 109,345,866 (GRCm39) F382V probably damaging Het
Slc30a7 T C 3: 115,747,802 (GRCm39) T330A probably damaging Het
Smc1b A T 15: 84,951,960 (GRCm39) L1157Q probably damaging Het
Snx4 G T 16: 33,071,840 (GRCm39) A4S possibly damaging Het
Sv2b A C 7: 74,775,515 (GRCm39) probably null Het
Syt9 A T 7: 107,024,493 (GRCm39) I129L probably damaging Het
Ttbk2 T C 2: 120,603,834 (GRCm39) E198G probably damaging Het
Ubr3 A T 2: 69,774,644 (GRCm39) D488V possibly damaging Het
Ush2a T A 1: 188,530,068 (GRCm39) C3286S probably damaging Het
Vill A G 9: 118,894,950 (GRCm39) D56G possibly damaging Het
Vmn1r41 A T 6: 89,724,352 (GRCm39) I298F probably damaging Het
Vmn2r2 A T 3: 64,024,688 (GRCm39) V631D probably damaging Het
Vmn2r32 A G 7: 7,475,573 (GRCm39) S437P possibly damaging Het
Vmn2r53 A G 7: 12,335,069 (GRCm39) V197A probably benign Het
Wasf1 A T 10: 40,796,365 (GRCm39) I32F probably damaging Het
Wasf2 G T 4: 132,922,041 (GRCm39) A387S unknown Het
Zbtb14 G A 17: 69,694,674 (GRCm39) C124Y probably damaging Het
Zfp462 G T 4: 55,007,671 (GRCm39) A37S probably damaging Het
Zfp532 A G 18: 65,820,061 (GRCm39) E882G possibly damaging 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
R6785:Prrg2 UTSW 7 44,709,649 (GRCm39) missense probably damaging 1.00
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'- ACAAGGGCCATTGTGGAAAC -3'
(R):5'- TTGAGGACAACACACTGACG -3'

Sequencing Primer
(F):5'- TGGAAACAGAGGAGACACCTTGTC -3'
(R):5'- TCAGAGGACCCTGGCATC -3'
Posted On 2018-10-18