Incidental Mutation 'R4448:Gpr4'
ID 328831
Institutional Source Beutler Lab
Gene Symbol Gpr4
Ensembl Gene ENSMUSG00000044317
Gene Name G protein-coupled receptor 4
Synonyms
MMRRC Submission 041709-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R4448 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 18946463-18958099 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 18956926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 283 (A283T)
Ref Sequence ENSEMBL: ENSMUSP00000061243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060225]
AlphaFold Q8BUD0
Predicted Effect probably damaging
Transcript: ENSMUST00000060225
AA Change: A283T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000061243
Gene: ENSMUSG00000044317
AA Change: A283T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 27 302 2.8e-6 PFAM
Pfam:7tm_1 36 288 2.9e-39 PFAM
low complexity region 330 341 N/A INTRINSIC
Meta Mutation Damage Score 0.6875 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 94% (49/52)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display partial neonatal and postnatal lethality, hemorrhages, impaired association of vascular smooth muscle cells with capillaries and small arteries and veins, and impaired contact between mesangial cells and renal glomerular capillaries. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik T A 8: 10,976,129 (GRCm39) noncoding transcript Het
A1cf A T 19: 31,923,262 (GRCm39) T513S probably benign Het
Acaca A T 11: 84,153,318 (GRCm39) I909F probably damaging Het
Adgb T C 10: 10,266,569 (GRCm39) I980V probably benign Het
Akap13 T A 7: 75,392,508 (GRCm39) F2450L probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Asb8 A G 15: 98,039,211 (GRCm39) V63A possibly damaging Het
Atp6v1b2 T A 8: 69,554,674 (GRCm39) D126E probably benign Het
BC048562 T A 9: 108,315,723 (GRCm39) L43Q probably damaging Het
Ctcf A T 8: 106,406,925 (GRCm39) probably benign Het
Efs A G 14: 55,157,649 (GRCm39) S128P probably damaging Het
Epg5 T A 18: 78,005,676 (GRCm39) M722K probably damaging Het
Ezr T C 17: 7,020,473 (GRCm39) I203V probably benign Het
F5 A T 1: 164,026,468 (GRCm39) N1680I possibly damaging Het
Fcna A G 2: 25,515,488 (GRCm39) F194L probably damaging Het
Fut7 A G 2: 25,314,951 (GRCm39) T70A probably benign Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Herc2 T C 7: 55,877,640 (GRCm39) L4569P probably damaging Het
Hhip C T 8: 80,770,574 (GRCm39) probably null Het
Hoxc12 A G 15: 102,846,911 (GRCm39) K268E probably damaging Het
Iqcm T C 8: 76,356,394 (GRCm39) S176P probably damaging Het
Kansl1l A G 1: 66,777,318 (GRCm39) S605P probably damaging Het
Kcnh4 A G 11: 100,646,733 (GRCm39) F198L probably benign Het
Kmt2e T C 5: 23,669,788 (GRCm39) F92L possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mycbp2 T C 14: 103,425,938 (GRCm39) I2396V possibly damaging Het
Nckap5 G A 1: 125,953,463 (GRCm39) Q1030* probably null Het
Pag1 T C 3: 9,764,526 (GRCm39) E209G probably benign Het
Pramel30 A C 4: 144,059,255 (GRCm39) H322P probably damaging Het
Pttg1 A T 11: 43,315,517 (GRCm39) probably benign Het
Rab38 T G 7: 88,139,833 (GRCm39) D167E probably benign Het
Rbm26 A T 14: 105,388,986 (GRCm39) F302I probably damaging Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sec23b A G 2: 144,401,171 (GRCm39) N11D probably benign Het
Sipa1l1 G A 12: 82,388,524 (GRCm39) G250D probably benign Het
Sipa1l2 A T 8: 126,219,094 (GRCm39) V81D probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Sqstm1 A G 11: 50,093,866 (GRCm39) probably benign Het
Taf4 A G 2: 179,577,764 (GRCm39) L519P possibly damaging Het
Tdrd6 C T 17: 43,940,626 (GRCm39) G141S probably benign Het
Urb1 C T 16: 90,566,282 (GRCm39) V1502I possibly damaging Het
Vmn1r222 A C 13: 23,416,463 (GRCm39) V250G probably benign Het
Vmn1r222 G A 13: 23,416,830 (GRCm39) L128F probably damaging Het
Wwc2 A G 8: 48,321,702 (GRCm39) Y471H unknown Het
Other mutations in Gpr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1628:Gpr4 UTSW 7 18,957,124 (GRCm39) missense probably benign
R1878:Gpr4 UTSW 7 18,957,049 (GRCm39) missense probably damaging 1.00
R2094:Gpr4 UTSW 7 18,956,503 (GRCm39) missense possibly damaging 0.58
R2117:Gpr4 UTSW 7 18,957,070 (GRCm39) missense probably damaging 0.98
R4705:Gpr4 UTSW 7 18,956,819 (GRCm39) missense probably damaging 1.00
R6815:Gpr4 UTSW 7 18,956,560 (GRCm39) missense probably damaging 0.98
R7191:Gpr4 UTSW 7 18,957,155 (GRCm39) missense probably benign
R7196:Gpr4 UTSW 7 18,957,089 (GRCm39) missense probably benign 0.10
R7733:Gpr4 UTSW 7 18,956,635 (GRCm39) missense probably damaging 1.00
R7752:Gpr4 UTSW 7 18,956,340 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGATCAAACGTCTGGCCCTG -3'
(R):5'- CAGGATGACAGTTGGGCATG -3'

Sequencing Primer
(F):5'- GAGCCTCATCGCCATTGTG -3'
(R):5'- ACCTTCAGTGGCACCTGGTC -3'
Posted On 2015-07-21