Incidental Mutation 'R2260:Hrc'
ID 243728
Institutional Source Beutler Lab
Gene Symbol Hrc
Ensembl Gene ENSMUSG00000038239
Gene Name histidine rich calcium binding protein
Synonyms
MMRRC Submission 040260-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2260 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 44984714-44988398 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44986105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 419 (R419S)
Ref Sequence ENSEMBL: ENSMUSP00000082459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003961] [ENSMUST00000042194] [ENSMUST00000085351] [ENSMUST00000210248] [ENSMUST00000210541] [ENSMUST00000211067] [ENSMUST00000211327] [ENSMUST00000211743] [ENSMUST00000211431]
AlphaFold G5E8J6
Predicted Effect probably benign
Transcript: ENSMUST00000003961
SMART Domains Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863

DomainStartEndE-ValueType
coiled coil region 27 129 N/A INTRINSIC
coiled coil region 167 426 N/A INTRINSIC
coiled coil region 448 500 N/A INTRINSIC
low complexity region 534 550 N/A INTRINSIC
coiled coil region 597 642 N/A INTRINSIC
low complexity region 651 672 N/A INTRINSIC
low complexity region 707 719 N/A INTRINSIC
SAM 835 904 1.46e-10 SMART
SAM 950 1017 8.22e-5 SMART
SAM 1038 1110 3.58e-5 SMART
low complexity region 1156 1169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000042194
SMART Domains Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260

DomainStartEndE-ValueType
low complexity region 118 131 N/A INTRINSIC
SCOP:d1awcb_ 378 465 2e-3 SMART
low complexity region 600 612 N/A INTRINSIC
low complexity region 637 645 N/A INTRINSIC
transmembrane domain 688 710 N/A INTRINSIC
Pfam:Ion_trans 781 1051 1.8e-13 PFAM
low complexity region 1089 1096 N/A INTRINSIC
low complexity region 1191 1208 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000085351
AA Change: R419S

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: R419S

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 32 45 N/A INTRINSIC
internal_repeat_1 51 146 8.76e-11 PROSPERO
low complexity region 154 189 N/A INTRINSIC
Pfam:Hist_rich_Ca-bd 213 225 1e-4 PFAM
low complexity region 240 254 N/A INTRINSIC
low complexity region 260 274 N/A INTRINSIC
low complexity region 287 304 N/A INTRINSIC
Pfam:Hist_rich_Ca-bd 308 324 2.2e-8 PFAM
low complexity region 340 353 N/A INTRINSIC
low complexity region 362 382 N/A INTRINSIC
internal_repeat_1 399 490 8.76e-11 PROSPERO
coiled coil region 536 565 N/A INTRINSIC
low complexity region 571 582 N/A INTRINSIC
coiled coil region 594 621 N/A INTRINSIC
low complexity region 632 648 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210479
Predicted Effect probably benign
Transcript: ENSMUST00000210541
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210586
Predicted Effect probably benign
Transcript: ENSMUST00000211067
Predicted Effect probably benign
Transcript: ENSMUST00000211327
Predicted Effect probably benign
Transcript: ENSMUST00000211743
Predicted Effect probably benign
Transcript: ENSMUST00000211431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211411
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in impaired weight gain and weight loss around 1 year of age and increased susceptibility to induced cardiac hypertrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,354,978 (GRCm39) N1252I probably damaging Het
Acot5 A T 12: 84,122,643 (GRCm39) H409L possibly damaging Het
Adgrv1 A T 13: 81,716,493 (GRCm39) V840E probably damaging Het
Adnp2 A T 18: 80,171,664 (GRCm39) M915K probably benign Het
Cd101 G C 3: 100,924,261 (GRCm39) L393V possibly damaging Het
Cd177 A G 7: 24,455,661 (GRCm39) V287A possibly damaging Het
Cdc37l1 A T 19: 28,984,448 (GRCm39) K194N probably benign Het
Cep126 T C 9: 8,101,749 (GRCm39) T262A possibly damaging Het
Chit1 A G 1: 134,078,865 (GRCm39) S392G probably benign Het
Col11a2 A G 17: 34,258,651 (GRCm39) H8R probably benign Het
Dusp12 C T 1: 170,708,580 (GRCm39) R120H probably damaging Het
Eln C A 5: 134,758,508 (GRCm39) A126S unknown Het
Entpd2 C T 2: 25,288,099 (GRCm39) P108S probably damaging Het
Fkbp6 C T 5: 135,366,468 (GRCm39) probably null Het
Ftcd T A 10: 76,423,893 (GRCm39) probably null Het
Gdf10 T C 14: 33,654,234 (GRCm39) L247P probably damaging Het
Gigyf1 C A 5: 137,518,594 (GRCm39) A215E possibly damaging Het
Gja4 C A 4: 127,206,623 (GRCm39) D47Y probably damaging Het
Gsn G A 2: 35,180,349 (GRCm39) G130E probably damaging Het
Itfg1 C T 8: 86,449,306 (GRCm39) C576Y probably damaging Het
Lama1 G T 17: 68,044,502 (GRCm39) A134S probably damaging Het
Larp4 T G 15: 99,895,277 (GRCm39) F283L possibly damaging Het
Marveld2 A G 13: 100,748,978 (GRCm39) S34P probably benign Het
Mettl18 T A 1: 163,824,394 (GRCm39) D238E probably benign Het
Mfn1 G T 3: 32,617,575 (GRCm39) E74* probably null Het
Mfn2 C A 4: 147,979,063 (GRCm39) E90* probably null Het
Mill2 T A 7: 18,590,413 (GRCm39) D164E probably benign Het
Ncapd3 A G 9: 26,967,368 (GRCm39) D568G probably benign Het
Nt5c1b A T 12: 10,424,965 (GRCm39) R170S probably damaging Het
Or10ak11 T C 4: 118,687,359 (GRCm39) I93V probably damaging Het
Or4c100 G A 2: 88,356,730 (GRCm39) V268I possibly damaging Het
Or5bw2 A T 7: 6,573,022 (GRCm39) I11F probably damaging Het
Or8d1b T C 9: 38,887,296 (GRCm39) V108A probably benign Het
Pald1 G A 10: 61,188,750 (GRCm39) R87W probably damaging Het
Paox T A 7: 139,713,967 (GRCm39) Y242* probably null Het
Pde2a A T 7: 101,133,774 (GRCm39) D85V probably damaging Het
Pitrm1 C T 13: 6,610,161 (GRCm39) T411I probably damaging Het
Pkd1l3 A G 8: 110,350,268 (GRCm39) Q371R probably benign Het
Plaat5 C T 19: 7,590,111 (GRCm39) R46C probably damaging Het
Ptprk A G 10: 28,082,145 (GRCm39) D38G possibly damaging Het
Rag2 G A 2: 101,460,583 (GRCm39) E298K probably benign Het
Rbm12b2 G A 4: 12,095,061 (GRCm39) R640H probably benign Het
Rcsd1 C T 1: 165,486,998 (GRCm39) A72T probably benign Het
Rims2 G T 15: 39,341,962 (GRCm39) E604* probably null Het
Rin2 A G 2: 145,720,824 (GRCm39) D719G probably damaging Het
Sash1 G A 10: 8,662,142 (GRCm39) Q155* probably null Het
Tacr1 A T 6: 82,380,756 (GRCm39) I56F probably damaging Het
Tbc1d4 G A 14: 101,731,847 (GRCm39) T455M probably damaging Het
Tex24 C T 8: 27,834,883 (GRCm39) T137I probably damaging Het
Tmem200a A C 10: 25,869,313 (GRCm39) S319A probably benign Het
Tmem242 G T 17: 5,483,745 (GRCm39) A99E probably damaging Het
Tmem30a C T 9: 79,681,446 (GRCm39) R277H probably benign Het
Tmprss11f G A 5: 86,739,269 (GRCm39) A4V probably benign Het
Triobp T G 15: 78,875,640 (GRCm39) probably null Het
Tshz2 A T 2: 169,728,326 (GRCm39) Q505L probably benign Het
Ttyh1 T C 7: 4,131,183 (GRCm39) V218A probably damaging Het
Vmn2r11 A T 5: 109,201,657 (GRCm39) Y282* probably null Het
Vps13c A G 9: 67,861,142 (GRCm39) N2891S probably benign Het
Xpo5 C T 17: 46,551,822 (GRCm39) Q1050* probably null Het
Other mutations in Hrc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03379:Hrc APN 7 44,986,679 (GRCm39) missense probably benign 0.27
BB004:Hrc UTSW 7 44,985,477 (GRCm39) missense possibly damaging 0.53
BB014:Hrc UTSW 7 44,985,477 (GRCm39) missense possibly damaging 0.53
R0017:Hrc UTSW 7 44,985,794 (GRCm39) missense possibly damaging 0.71
R0047:Hrc UTSW 7 44,986,113 (GRCm39) missense probably benign 0.00
R0047:Hrc UTSW 7 44,986,113 (GRCm39) missense probably benign 0.00
R0310:Hrc UTSW 7 44,985,921 (GRCm39) missense probably benign
R0436:Hrc UTSW 7 44,985,557 (GRCm39) missense possibly damaging 0.53
R0534:Hrc UTSW 7 44,986,659 (GRCm39) unclassified probably benign
R1230:Hrc UTSW 7 44,985,887 (GRCm39) missense possibly damaging 0.85
R1808:Hrc UTSW 7 44,986,202 (GRCm39) missense probably damaging 0.99
R1975:Hrc UTSW 7 44,985,638 (GRCm39) missense probably damaging 0.98
R1977:Hrc UTSW 7 44,985,638 (GRCm39) missense probably damaging 0.98
R2258:Hrc UTSW 7 44,986,105 (GRCm39) missense possibly damaging 0.68
R3551:Hrc UTSW 7 44,985,757 (GRCm39) missense possibly damaging 0.72
R3552:Hrc UTSW 7 44,985,757 (GRCm39) missense possibly damaging 0.72
R4169:Hrc UTSW 7 44,986,181 (GRCm39) missense probably benign 0.00
R5085:Hrc UTSW 7 44,986,445 (GRCm39) missense probably damaging 0.99
R5204:Hrc UTSW 7 44,985,128 (GRCm39) missense possibly damaging 0.96
R5215:Hrc UTSW 7 44,985,515 (GRCm39) missense probably damaging 0.99
R5245:Hrc UTSW 7 44,984,855 (GRCm39) missense probably damaging 1.00
R5390:Hrc UTSW 7 44,984,909 (GRCm39) missense probably damaging 0.96
R5432:Hrc UTSW 7 44,986,285 (GRCm39) missense possibly damaging 0.72
R5756:Hrc UTSW 7 44,986,130 (GRCm39) missense possibly damaging 0.85
R5761:Hrc UTSW 7 44,986,025 (GRCm39) splice site probably null
R5905:Hrc UTSW 7 44,985,658 (GRCm39) missense probably damaging 0.99
R6144:Hrc UTSW 7 44,986,157 (GRCm39) missense possibly damaging 0.86
R6684:Hrc UTSW 7 44,985,956 (GRCm39) missense possibly damaging 0.53
R6699:Hrc UTSW 7 44,985,119 (GRCm39) missense possibly damaging 0.85
R6809:Hrc UTSW 7 44,985,803 (GRCm39) missense probably benign
R6887:Hrc UTSW 7 44,985,088 (GRCm39) missense probably benign 0.18
R7178:Hrc UTSW 7 44,985,685 (GRCm39) missense possibly damaging 0.53
R7208:Hrc UTSW 7 44,985,989 (GRCm39) missense possibly damaging 0.53
R7258:Hrc UTSW 7 44,985,720 (GRCm39) missense possibly damaging 0.70
R7310:Hrc UTSW 7 44,985,227 (GRCm39) nonsense probably null
R7456:Hrc UTSW 7 44,986,320 (GRCm39) missense possibly damaging 0.83
R7525:Hrc UTSW 7 44,985,803 (GRCm39) missense probably benign
R7673:Hrc UTSW 7 44,986,658 (GRCm39) missense probably benign 0.00
R7734:Hrc UTSW 7 44,986,100 (GRCm39) missense probably benign 0.06
R7927:Hrc UTSW 7 44,985,477 (GRCm39) missense possibly damaging 0.53
R7952:Hrc UTSW 7 44,985,692 (GRCm39) missense probably damaging 0.98
R8080:Hrc UTSW 7 44,986,262 (GRCm39) missense probably damaging 0.96
R8823:Hrc UTSW 7 44,985,722 (GRCm39) missense possibly damaging 0.85
R9173:Hrc UTSW 7 44,986,799 (GRCm39) critical splice donor site probably null
R9358:Hrc UTSW 7 44,985,984 (GRCm39) missense probably benign 0.33
Z1177:Hrc UTSW 7 44,986,394 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- TGGACGCCAAGGCTATGAAG -3'
(R):5'- GCCAAACTCAGTAGAAATGTCCTC -3'

Sequencing Primer
(F):5'- GATGACTCTACTGAGCATGTGCATC -3'
(R):5'- TCATCATCACCCCTGGAGG -3'
Posted On 2014-10-16