Incidental Mutation 'R9491:Prrg2'
ID 716931
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9491 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 44703008-44711828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44706218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 133 (Y133F)
Ref Sequence ENSEMBL: ENSMUSP00000007981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007981] [ENSMUST00000057293] [ENSMUST00000209219] [ENSMUST00000209920] [ENSMUST00000210101] [ENSMUST00000210493] [ENSMUST00000210500] [ENSMUST00000210690] [ENSMUST00000211014] [ENSMUST00000211337]
AlphaFold Q8R182
Predicted Effect probably damaging
Transcript: ENSMUST00000007981
AA Change: Y133F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000007981
Gene: ENSMUSG00000007837
AA Change: Y133F

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: ENSMUST00000057293
SMART Domains Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574

DomainStartEndE-ValueType
low complexity region 135 150 N/A INTRINSIC
low complexity region 208 222 N/A INTRINSIC
low complexity region 225 242 N/A INTRINSIC
low complexity region 249 261 N/A INTRINSIC
low complexity region 330 376 N/A INTRINSIC
low complexity region 388 413 N/A INTRINSIC
low complexity region 418 444 N/A INTRINSIC
low complexity region 450 464 N/A INTRINSIC
low complexity region 469 487 N/A INTRINSIC
low complexity region 535 559 N/A INTRINSIC
low complexity region 598 616 N/A INTRINSIC
low complexity region 665 682 N/A INTRINSIC
low complexity region 760 775 N/A INTRINSIC
low complexity region 785 814 N/A INTRINSIC
low complexity region 830 841 N/A INTRINSIC
low complexity region 858 871 N/A INTRINSIC
low complexity region 883 896 N/A INTRINSIC
low complexity region 949 960 N/A INTRINSIC
low complexity region 964 986 N/A INTRINSIC
low complexity region 1033 1044 N/A INTRINSIC
low complexity region 1059 1070 N/A INTRINSIC
AT_hook 1161 1173 5.74e1 SMART
AT_hook 1193 1205 8.09e0 SMART
low complexity region 1252 1264 N/A INTRINSIC
low complexity region 1308 1328 N/A INTRINSIC
low complexity region 1417 1535 N/A INTRINSIC
low complexity region 1684 1748 N/A INTRINSIC
Pfam:DUF4211 1817 1950 6.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209219
Predicted Effect silent
Transcript: ENSMUST00000209920
Predicted Effect probably damaging
Transcript: ENSMUST00000210101
AA Change: Y133F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000210493
AA Change: Y108F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000210500
AA Change: Y124F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000210690
AA Change: Y133F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211014
AA Change: Y133F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000211337
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 G A 9: 106,312,994 (GRCm39) T142I probably damaging Het
Adcy9 T C 16: 4,236,052 (GRCm39) E453G probably damaging Het
Ank3 A C 10: 69,838,339 (GRCm39) probably null Het
Asmt G A X: 169,108,405 (GRCm39) G103D possibly damaging Het
Cap2 C T 13: 46,791,366 (GRCm39) P290S possibly damaging Het
Cfap43 A T 19: 47,800,505 (GRCm39) probably null Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Clstn1 T C 4: 149,731,929 (GRCm39) S950P probably damaging Het
Cluap1 G A 16: 3,758,732 (GRCm39) R398Q probably benign Het
Cmbl G T 15: 31,582,119 (GRCm39) V39L probably benign Het
Dapk1 A G 13: 60,877,369 (GRCm39) D536G probably benign Het
Ddx3y T A Y: 1,279,465 (GRCm39) D133V probably benign Het
Duox1 T A 2: 122,156,907 (GRCm39) S525T probably benign Het
Eif2s2 T C 2: 154,734,630 (GRCm39) probably benign Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Gadd45a A T 6: 67,012,730 (GRCm39) D137E probably benign Het
Gmppa A G 1: 75,415,602 (GRCm39) D120G probably damaging Het
Gpr156 A T 16: 37,825,704 (GRCm39) R640S probably benign Het
Grik1 A T 16: 87,746,995 (GRCm39) M414K Het
Gtse1 C T 15: 85,755,734 (GRCm39) P466L probably damaging Het
H6pd T A 4: 150,080,366 (GRCm39) N160Y probably benign Het
Hectd4 T G 5: 121,452,981 (GRCm39) L496R probably damaging Het
Hnrnpk G T 13: 58,541,050 (GRCm39) Q441K probably benign Het
Incenp T C 19: 9,854,141 (GRCm39) K637E unknown Het
Irgc C T 7: 24,132,349 (GRCm39) R156H probably benign Het
Kazn C T 4: 141,845,436 (GRCm39) A383T Het
Lmln A G 16: 32,890,358 (GRCm39) E169G possibly damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mdfic T A 6: 15,799,852 (GRCm39) C326* probably null Het
Ncoa1 T A 12: 4,340,912 (GRCm39) D840V probably benign Het
Nkd1 A G 8: 89,300,875 (GRCm39) D81G probably benign Het
Or5an1c T C 19: 12,218,606 (GRCm39) T140A probably benign Het
Or8c10 T C 9: 38,278,971 (GRCm39) V33A possibly damaging Het
Parp4 G A 14: 56,832,828 (GRCm39) E384K probably damaging Het
Pcdhgb4 T A 18: 37,854,895 (GRCm39) L430H probably damaging Het
Pdgfrb A G 18: 61,212,056 (GRCm39) Y861C probably damaging Het
Pheta1 G A 5: 121,991,051 (GRCm39) A138T probably benign Het
Pipox T A 11: 77,772,359 (GRCm39) Y337F probably benign Het
Prcc A G 3: 87,774,671 (GRCm39) V377A probably benign Het
Ptchd3 T C 11: 121,733,813 (GRCm39) V901A probably damaging Het
Rgl1 A G 1: 152,424,869 (GRCm39) L335P probably damaging Het
Setx T A 2: 29,037,835 (GRCm39) M1440K probably benign Het
Smchd1 A G 17: 71,667,020 (GRCm39) probably null Het
Tbpl2 T C 2: 23,986,532 (GRCm39) I6V probably benign Het
Tdrd12 T A 7: 35,188,689 (GRCm39) H516L Het
Tmem8b C T 4: 43,673,938 (GRCm39) R190C probably damaging Het
Tpmt A T 13: 47,180,752 (GRCm39) S196T probably benign Het
Trp63 A G 16: 25,695,472 (GRCm39) N478S unknown Het
Vstm5 T G 9: 15,168,586 (GRCm39) I50S probably damaging Het
Wdhd1 A T 14: 47,505,616 (GRCm39) C285* probably null Het
Zdhhc23 A C 16: 43,794,062 (GRCm39) V204G probably benign Het
Zfp653 T A 9: 21,969,622 (GRCm39) K215* 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
R6785:Prrg2 UTSW 7 44,709,649 (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
Predicted Primers PCR Primer
(F):5'- GAATGGCAGCCTACTCTCCATAG -3'
(R):5'- TTCATTGCCTGAAGCCCCAG -3'

Sequencing Primer
(F):5'- ACTCTCCATAGGCTGTGGC -3'
(R):5'- TAGAAGGGGCCTCAGATCC -3'
Posted On 2022-07-18