Incidental Mutation 'R2964:Hrh4'
ID 255990
Institutional Source Beutler Lab
Gene Symbol Hrh4
Ensembl Gene ENSMUSG00000037346
Gene Name histamine receptor H4
Synonyms H4R
MMRRC Submission 040520-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R2964 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 13140047-13155939 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13155426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 322 (C322R)
Ref Sequence ENSEMBL: ENSMUSP00000041061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041676]
AlphaFold Q91ZY2
Predicted Effect probably benign
Transcript: ENSMUST00000041676
AA Change: C322R

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041061
Gene: ENSMUSG00000037346
AA Change: C322R

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 26 211 1e-5 PFAM
Pfam:7tm_1 32 360 8.1e-58 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased allergic response to airway inflammation and decreased Th2 responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,829 (GRCm39) R511* probably null Het
Acox3 T C 5: 35,762,611 (GRCm39) I495T possibly damaging Het
Acsl3 A G 1: 78,672,011 (GRCm39) S302G probably benign Het
Ap1s1 T C 5: 137,066,357 (GRCm39) D148G probably damaging Het
Asprv1 T A 6: 86,605,348 (GRCm39) C65S probably damaging Het
Cdkal1 A G 13: 29,628,018 (GRCm39) S39P unknown Het
Chrna2 T C 14: 66,386,817 (GRCm39) V321A possibly damaging Het
Chsy1 G A 7: 65,821,912 (GRCm39) G716R probably damaging Het
Col13a1 G A 10: 61,797,110 (GRCm39) R106W probably damaging Het
Cul9 A G 17: 46,813,154 (GRCm39) V2355A probably damaging Het
Cwh43 T C 5: 73,565,679 (GRCm39) probably benign Het
Dbi C T 1: 120,047,846 (GRCm39) probably benign Het
Dync1h1 G A 12: 110,607,460 (GRCm39) probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbxw21 A G 9: 108,974,578 (GRCm39) I314T probably benign Het
Fstl3 T C 10: 79,617,057 (GRCm39) V200A probably benign Het
Gpr45 G A 1: 43,071,668 (GRCm39) D104N possibly damaging Het
Gsdma2 T C 11: 98,548,085 (GRCm39) S184P probably damaging Het
Gtf2ird1 T C 5: 134,386,538 (GRCm39) probably null Het
H2-T22 A G 17: 36,351,537 (GRCm39) L231S probably damaging Het
Ing1 T A 8: 11,611,641 (GRCm39) S26R probably benign Het
Kif3a A T 11: 53,469,757 (GRCm39) I123F probably damaging Het
Lrp6 T C 6: 134,444,489 (GRCm39) E1127G probably damaging Het
Ltf G T 9: 110,857,540 (GRCm39) C443F possibly damaging Het
Mdc1 A T 17: 36,164,529 (GRCm39) Q1359L possibly damaging Het
Mdga1 A T 17: 30,071,442 (GRCm39) I393N probably damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Myo3a T C 2: 22,345,067 (GRCm39) V509A possibly damaging Het
Nav2 C T 7: 49,206,780 (GRCm39) T1535I probably damaging Het
Nlrp4d G T 7: 10,112,256 (GRCm39) S626* probably null Het
Nup188 T A 2: 30,215,358 (GRCm39) I732K probably damaging Het
Oprm1 T C 10: 6,738,914 (GRCm39) S14P probably damaging Het
Or1j12 T C 2: 36,342,779 (GRCm39) F61L probably damaging Het
Or1l8 G A 2: 36,817,419 (GRCm39) R236C probably benign Het
Or5b101 C T 19: 13,005,412 (GRCm39) A94T probably benign Het
Pigr G A 1: 130,769,272 (GRCm39) V28M probably damaging Het
Pnpla2 C T 7: 141,038,391 (GRCm39) L215F probably damaging Het
Pth T C 7: 112,985,136 (GRCm39) H79R probably benign Het
Rasal1 T A 5: 120,809,685 (GRCm39) L530Q probably damaging Het
Sdccag8 A T 1: 176,775,937 (GRCm39) K616M possibly damaging Het
Slc4a5 C T 6: 83,273,651 (GRCm39) T997I probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Trav7d-4 C T 14: 53,007,584 (GRCm39) Q26* probably null Het
Zcchc8 A G 5: 123,858,930 (GRCm39) S22P probably benign Het
Other mutations in Hrh4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Hrh4 APN 18 13,149,004 (GRCm39) splice site probably benign
IGL01544:Hrh4 APN 18 13,148,950 (GRCm39) missense probably benign 0.22
IGL01765:Hrh4 APN 18 13,140,252 (GRCm39) missense probably damaging 1.00
IGL02117:Hrh4 APN 18 13,155,477 (GRCm39) missense probably benign 0.02
IGL02559:Hrh4 APN 18 13,140,301 (GRCm39) critical splice donor site probably null
IGL03277:Hrh4 APN 18 13,148,940 (GRCm39) missense probably damaging 1.00
IGL03281:Hrh4 APN 18 13,155,526 (GRCm39) missense possibly damaging 0.94
BB009:Hrh4 UTSW 18 13,148,869 (GRCm39) nonsense probably null
BB019:Hrh4 UTSW 18 13,148,869 (GRCm39) nonsense probably null
R0267:Hrh4 UTSW 18 13,155,455 (GRCm39) nonsense probably null
R0329:Hrh4 UTSW 18 13,140,302 (GRCm39) splice site probably benign
R1601:Hrh4 UTSW 18 13,148,955 (GRCm39) missense possibly damaging 0.86
R1827:Hrh4 UTSW 18 13,155,261 (GRCm39) missense probably damaging 0.97
R3843:Hrh4 UTSW 18 13,155,343 (GRCm39) missense possibly damaging 0.77
R5262:Hrh4 UTSW 18 13,148,870 (GRCm39) missense probably damaging 0.99
R5325:Hrh4 UTSW 18 13,155,054 (GRCm39) nonsense probably null
R5473:Hrh4 UTSW 18 13,154,985 (GRCm39) missense probably benign 0.34
R6500:Hrh4 UTSW 18 13,155,525 (GRCm39) missense probably damaging 0.98
R6622:Hrh4 UTSW 18 13,155,454 (GRCm39) missense probably damaging 1.00
R7574:Hrh4 UTSW 18 13,154,970 (GRCm39) missense possibly damaging 0.92
R7877:Hrh4 UTSW 18 13,155,582 (GRCm39) missense possibly damaging 0.50
R7932:Hrh4 UTSW 18 13,148,869 (GRCm39) nonsense probably null
R8197:Hrh4 UTSW 18 13,154,986 (GRCm39) missense probably damaging 1.00
R8278:Hrh4 UTSW 18 13,140,284 (GRCm39) missense probably damaging 0.99
R8549:Hrh4 UTSW 18 13,155,115 (GRCm39) missense possibly damaging 0.62
R8873:Hrh4 UTSW 18 13,140,195 (GRCm39) missense
R9615:Hrh4 UTSW 18 13,154,944 (GRCm39) missense probably benign 0.41
R9738:Hrh4 UTSW 18 13,155,270 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- CTCGAAGAAAGAGCAGCATCCTG -3'
(R):5'- ACTGACTGGTTCTGTGACAGC -3'

Sequencing Primer
(F):5'- CAGCATCCTGGTGTCCTTAAGG -3'
(R):5'- CTGTGACAGCGCTGGTTGC -3'
Posted On 2014-12-29