Incidental Mutation 'R5868:Prh1'
ID 454273
Institutional Source Beutler Lab
Gene Symbol Prh1
Ensembl Gene ENSMUSG00000059934
Gene Name proline rich protein HaeIII subfamily 1
Synonyms Prp, MP2, A-type
MMRRC Submission 044076-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5868 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 132546805-132549364 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132549174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 227 (Q227R)
Ref Sequence ENSEMBL: ENSMUSP00000135877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074042] [ENSMUST00000111972] [ENSMUST00000177523]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000074042
AA Change: Q199R
SMART Domains Protein: ENSMUSP00000073689
Gene: ENSMUSG00000059934
AA Change: Q199R

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 20 44 N/A INTRINSIC
low complexity region 49 244 N/A INTRINSIC
low complexity region 250 261 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000111972
AA Change: Q227R
SMART Domains Protein: ENSMUSP00000107603
Gene: ENSMUSG00000059934
AA Change: Q227R

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 20 44 N/A INTRINSIC
low complexity region 49 272 N/A INTRINSIC
low complexity region 278 289 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000177523
AA Change: Q227R
SMART Domains Protein: ENSMUSP00000135877
Gene: ENSMUSG00000059934
AA Change: Q227R

DomainStartEndE-ValueType
Pfam:Pro-rich 1 88 3.7e-9 PFAM
low complexity region 278 289 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.2%
  • 20x: 90.8%
Validation Efficiency 95% (58/61)
MGI Phenotype FUNCTION: This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The expression of this gene is dramatically induced in the parotid and submandibular glands of mice by beta-adrenergic stimulation. The encoded protein serves an important dental function by protecting mice against toxic dietary polyphenols such as tannins and influence the visco-elastic properties of the mucus. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 6. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik C A 11: 69,788,401 (GRCm39) K394N possibly damaging Het
Adamts18 T A 8: 114,504,380 (GRCm39) Q80L possibly damaging Het
Apbb2 T A 5: 66,609,439 (GRCm39) K69N probably damaging Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
BC035947 T A 1: 78,474,960 (GRCm39) N524I probably damaging Het
Bpifa1 A G 2: 153,985,796 (GRCm39) N37S unknown Het
Cfap91 T A 16: 38,152,604 (GRCm39) D202V probably damaging Het
Crnkl1 A T 2: 145,760,473 (GRCm39) D648E probably benign Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Cyfip1 A C 7: 55,576,061 (GRCm39) D1077A probably damaging Het
Dennd4a T C 9: 64,804,011 (GRCm39) S1117P probably benign Het
Dnaaf8 T C 16: 4,791,932 (GRCm39) noncoding transcript Het
Elmo2 A T 2: 165,136,192 (GRCm39) M618K possibly damaging Het
Fggy A G 4: 95,585,225 (GRCm39) T35A probably damaging Het
Gad2 G A 2: 22,575,079 (GRCm39) probably null Het
Gtf3c2 A C 5: 31,325,425 (GRCm39) F455V possibly damaging Het
H4c16 C T 6: 136,781,292 (GRCm39) G29D probably damaging Het
Hacl1 C A 14: 31,341,873 (GRCm39) A311S probably damaging Het
Kat6b G A 14: 21,684,547 (GRCm39) D611N probably damaging Het
Kifap3 T C 1: 163,693,041 (GRCm39) I611T probably damaging Het
Lrba A G 3: 86,226,911 (GRCm39) Y683C probably damaging Het
Mfsd14a T C 3: 116,427,399 (GRCm39) N413S probably benign Het
Mtmr11 T A 3: 96,078,518 (GRCm39) D691E possibly damaging Het
Mzf1 A T 7: 12,787,116 (GRCm39) F64I probably benign Het
Neu2 G T 1: 87,524,478 (GRCm39) Q154H probably damaging Het
Nid1 T C 13: 13,663,742 (GRCm39) probably null Het
Nod1 C A 6: 54,916,312 (GRCm39) K128N probably damaging Het
Noxred1 T A 12: 87,270,976 (GRCm39) Q215L possibly damaging Het
Npat A G 9: 53,481,424 (GRCm39) E1044G probably damaging Het
Npr1 A G 3: 90,366,800 (GRCm39) probably benign Het
Pdcd6 T C 13: 74,452,133 (GRCm39) D169G probably damaging Het
Pld3 G T 7: 27,237,093 (GRCm39) T262N probably benign Het
Plxna1 T C 6: 89,299,704 (GRCm39) probably benign Het
Prtg C A 9: 72,716,999 (GRCm39) Y113* probably null Het
Rbm27 T A 18: 42,433,450 (GRCm39) V242E possibly damaging Het
Ripor1 T C 8: 106,342,636 (GRCm39) L198P probably damaging Het
Rnpc3 T C 3: 113,410,360 (GRCm39) probably null Het
Serpinf2 T C 11: 75,324,065 (GRCm39) T321A probably benign Het
Sh3gl1 T C 17: 56,326,119 (GRCm39) D129G probably damaging Het
Slc12a2 C A 18: 58,077,068 (GRCm39) P1189Q probably damaging Het
Slc16a9 T C 10: 70,118,320 (GRCm39) M213T probably benign Het
Spata31f3 A T 4: 42,871,711 (GRCm39) D221E probably damaging Het
Svil G A 18: 5,056,854 (GRCm39) probably null Het
Synpo A G 18: 60,737,118 (GRCm39) L37P probably damaging Het
Tmprss9 A G 10: 80,718,580 (GRCm39) H87R probably benign Het
Tmtc1 A T 6: 148,139,353 (GRCm39) L885Q probably damaging Het
Ttc41 T C 10: 86,586,128 (GRCm39) S811P possibly damaging Het
Vmn2r23 T C 6: 123,689,901 (GRCm39) V259A probably benign Het
Wwox T A 8: 115,406,586 (GRCm39) H192Q probably benign Het
Other mutations in Prh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02635:Prh1 APN 6 132,549,246 (GRCm39) missense unknown
R0583:Prh1 UTSW 6 132,548,796 (GRCm39) missense unknown
R4434:Prh1 UTSW 6 132,548,841 (GRCm39) missense unknown
R5188:Prh1 UTSW 6 132,548,670 (GRCm39) missense unknown
R6522:Prh1 UTSW 6 132,548,996 (GRCm39) missense unknown
R7293:Prh1 UTSW 6 132,548,721 (GRCm39) missense unknown
R8084:Prh1 UTSW 6 132,548,822 (GRCm39) missense unknown
R8803:Prh1 UTSW 6 132,548,948 (GRCm39) missense unknown
R9329:Prh1 UTSW 6 132,548,573 (GRCm39) missense unknown
R9365:Prh1 UTSW 6 132,549,108 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTGTTAATGGGAGCCAGCAAG -3'
(R):5'- TTGGTTTACCGAGGTCCCTG -3'

Sequencing Primer
(F):5'- CAGGAGGCCCACAGCATAG -3'
(R):5'- TTACCGAGGTCCCTGGGGTC -3'
Posted On 2017-02-10