Incidental Mutation 'R0783:Grrp1'
ID 76716
Institutional Source Beutler Lab
Gene Symbol Grrp1
Ensembl Gene ENSMUSG00000050105
Gene Name glycine/arginine rich protein 1
Synonyms
MMRRC Submission 038963-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R0783 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 134251110-134254106 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 134252057 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 37 (R37C)
Ref Sequence ENSEMBL: ENSMUSP00000060143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060050] [ENSMUST00000205501]
AlphaFold Q80X91
Predicted Effect probably damaging
Transcript: ENSMUST00000060050
AA Change: R37C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000060143
Gene: ENSMUSG00000050105
AA Change: R37C

DomainStartEndE-ValueType
Pfam:FAM110_N 5 79 1.4e-14 PFAM
Pfam:FAM110_C 141 262 1.2e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138366
Predicted Effect probably benign
Transcript: ENSMUST00000205501
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.2%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 120,294,157 G1277R probably damaging Het
Abi3bp A G 16: 56,595,238 probably null Het
Acsm2 G A 7: 119,573,117 G61D probably damaging Het
Akp3 G A 1: 87,127,871 G547R unknown Het
Bbs9 T C 9: 22,567,714 L151S possibly damaging Het
Camk2g T A 14: 20,744,636 T173S possibly damaging Het
Eif3b T C 5: 140,419,837 probably benign Het
Eif3i A C 4: 129,592,076 F319V possibly damaging Het
Eprs T C 1: 185,398,458 L672P probably damaging Het
Fras1 C T 5: 96,768,430 A3441V probably damaging Het
Gigyf2 T A 1: 87,407,161 M79K probably damaging Het
Hdac1 T C 4: 129,518,109 N331S probably benign Het
Hmcn1 C T 1: 150,650,073 G3300S probably damaging Het
Iars2 T C 1: 185,320,874 E400G probably damaging Het
Irx2 T C 13: 72,632,650 probably null Het
Itih4 G A 14: 30,895,423 E567K possibly damaging Het
Klhl5 T A 5: 65,156,253 probably benign Het
Klk8 G A 7: 43,802,197 G204E probably damaging Het
Loxhd1 T C 18: 77,429,984 F1843L possibly damaging Het
Mllt6 T C 11: 97,665,745 V87A probably damaging Het
Mylk G C 16: 34,879,475 E403Q possibly damaging Het
Nhlrc3 A T 3: 53,462,449 S34T probably benign Het
Olfr1099 A G 2: 86,958,562 C299R probably benign Het
Olfr1224-ps1 A T 2: 89,156,891 C95S probably benign Het
Olfr1494 T C 19: 13,749,676 L190P probably damaging Het
Olfr193 A T 16: 59,110,169 L147* probably null Het
Olfr549 A G 7: 102,554,439 I52V probably benign Het
Olfr593 T C 7: 103,212,670 F259S probably damaging Het
Pcnx4 T C 12: 72,575,478 W1074R probably damaging Het
Pcsk9 T C 4: 106,450,117 T310A probably benign Het
Pfas A G 11: 69,000,521 L250P probably damaging Het
Plk5 T A 10: 80,361,130 D352E probably benign Het
Ryr3 A G 2: 112,756,327 probably benign Het
Serinc3 A G 2: 163,637,003 I68T possibly damaging Het
Sez6l2 A G 7: 126,967,145 T810A possibly damaging Het
Tmprss7 G A 16: 45,667,606 Q487* probably null Het
Tnf A G 17: 35,201,674 I56T probably damaging Het
Ttbk2 A T 2: 120,739,977 S1163T possibly damaging Het
Ttn G A 2: 76,743,530 T23927I probably damaging Het
Urb1 G A 16: 90,810,297 A15V possibly damaging Het
Zfp128 C T 7: 12,890,272 P189L probably damaging Het
Zfr T C 15: 12,162,182 V806A probably damaging Het
Other mutations in Grrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1521:Grrp1 UTSW 4 134251350 makesense probably null
R4679:Grrp1 UTSW 4 134251436 missense probably damaging 1.00
R5061:Grrp1 UTSW 4 134251730 missense probably benign
R7509:Grrp1 UTSW 4 134252113 missense probably damaging 1.00
R7651:Grrp1 UTSW 4 134251648 missense probably damaging 1.00
Z1177:Grrp1 UTSW 4 134251570 missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- GCCGCAGTAGTTGAAGAATCGCTC -3'
(R):5'- TGGCTGATCCTCTACCCAGGAATG -3'

Sequencing Primer
(F):5'- TTTCTCCGACAGTGGCAG -3'
(R):5'- GAGAATTGCTCGCTGCTCC -3'
Posted On 2013-10-16