Incidental Mutation 'R4399:Prrg3'
ID 325654
Institutional Source Beutler Lab
Gene Symbol Prrg3
Ensembl Gene ENSMUSG00000033361
Gene Name proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)
Synonyms LOC208748
MMRRC Submission 041686-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.031) question?
Stock # R4399 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 71006230-71016328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71010915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 141 (S141C)
Ref Sequence ENSEMBL: ENSMUSP00000128073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048790] [ENSMUST00000126362] [ENSMUST00000170096]
AlphaFold Q6PAQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000048790
AA Change: S141C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038947
Gene: ENSMUSG00000033361
AA Change: S141C

DomainStartEndE-ValueType
GLA 1 64 1.25e-25 SMART
transmembrane domain 79 101 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126362
SMART Domains Protein: ENSMUSP00000118155
Gene: ENSMUSG00000033361

DomainStartEndE-ValueType
GLA 1 52 6.79e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000170096
AA Change: S141C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128073
Gene: ENSMUSG00000033361
AA Change: S141C

DomainStartEndE-ValueType
GLA 1 64 1.25e-25 SMART
transmembrane domain 79 101 N/A INTRINSIC
Meta Mutation Damage Score 0.1059 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (44/46)
MGI Phenotype FUNCTION: This gene encodes proline-rich gamma-carboxyglutamic acid protein 3, a member of vitamin K-dependent membrane proteins containing gamma-carboxyglutamic acid residues. The encoded precursor protein contains an N-terminal propeptide that is required for the carboxylation of glutamate residues in the mature protein. Alternate splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,827,211 (GRCm39) T1466A possibly damaging Het
Abcc6 T C 7: 45,652,031 (GRCm39) N612S probably benign Het
Aga T C 8: 53,964,861 (GRCm39) S8P probably benign Het
Cep152 G A 2: 125,429,900 (GRCm39) A674V possibly damaging Het
Chd6 T C 2: 160,807,238 (GRCm39) H1992R probably benign Het
Cnga1 T C 5: 72,761,724 (GRCm39) K597E probably damaging Het
Col6a5 T A 9: 105,766,164 (GRCm39) M1919L possibly damaging Het
Cramp1 C T 17: 25,198,559 (GRCm39) V788I probably damaging Het
Dnah7a T C 1: 53,557,886 (GRCm39) Y2176C probably damaging Het
Foxred2 A C 15: 77,837,558 (GRCm39) V226G possibly damaging Het
Foxred2 T C 15: 77,839,880 (GRCm39) I137V probably benign Het
G6pd2 T A 5: 61,967,516 (GRCm39) N430K probably benign Het
Gtf2h3 T C 5: 124,740,126 (GRCm39) probably benign Het
Ibsp T A 5: 104,457,148 (GRCm39) S86T probably damaging Het
Igkv6-25 T A 6: 70,192,694 (GRCm39) S34T possibly damaging Het
Mrc2 T A 11: 105,227,484 (GRCm39) Y572* probably null Het
Mup18 C T 4: 61,590,866 (GRCm39) G97D probably damaging Het
Or1j18 A T 2: 36,625,242 (GRCm39) N303I probably benign Het
Or1p1 A G 11: 74,179,682 (GRCm39) D70G probably damaging Het
Or2ag2 G T 7: 106,485,660 (GRCm39) D121E probably damaging Het
Or4k40 T G 2: 111,251,144 (GRCm39) I51L probably benign Het
Prkcz A T 4: 155,353,534 (GRCm39) I454N possibly damaging Het
Ralgapa1 T A 12: 55,842,563 (GRCm39) probably null Het
Ryr3 A T 2: 112,777,189 (GRCm39) S323T probably benign Het
Sbpl A G 17: 24,173,860 (GRCm39) L8P unknown Het
Setd1b C T 5: 123,299,861 (GRCm39) probably benign Het
Sh2d3c G A 2: 32,636,172 (GRCm39) G332D probably damaging Het
Slc2a7 A G 4: 150,243,007 (GRCm39) E276G probably damaging Het
Slc35b3 A G 13: 39,121,791 (GRCm39) F73L possibly damaging Het
Sstr3 T G 15: 78,424,324 (GRCm39) D141A probably damaging Het
St8sia5 T C 18: 77,340,714 (GRCm39) C191R probably damaging Het
Sult1c2 T C 17: 54,269,538 (GRCm39) N230S probably benign Het
Thrap3 A G 4: 126,060,872 (GRCm39) probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tmem151a A G 19: 5,133,099 (GRCm39) S36P probably damaging Het
Vmn1r67 A G 7: 10,181,476 (GRCm39) T247A possibly damaging Het
Vmn2r50 A G 7: 9,781,834 (GRCm39) S304P possibly damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vmn2r72 T C 7: 85,387,708 (GRCm39) N619D probably damaging Het
Xab2 C A 8: 3,664,244 (GRCm39) probably null Het
Other mutations in Prrg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Prrg3 APN X 71,011,123 (GRCm39) missense probably benign 0.02
IGL03201:Prrg3 APN X 71,010,108 (GRCm39) missense probably damaging 0.96
R4421:Prrg3 UTSW X 71,010,915 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTCTACTCAGTTCGAGACCCC -3'
(R):5'- GTGCAGTCACCTCCTCATAG -3'

Sequencing Primer
(F):5'- CAGAGCTCAGATGCTATGTATGTG -3'
(R):5'- TCCTCATAGGAAGGGGGAGG -3'
Posted On 2015-07-06