Incidental Mutation 'R5451:Calhm2'
ID 434613
Institutional Source Beutler Lab
Gene Symbol Calhm2
Ensembl Gene ENSMUSG00000033033
Gene Name calcium homeostasis modulator family member 2
Synonyms 2810048G17Rik
MMRRC Submission 043016-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5451 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 47120671-47126733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 47121314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 285 (Y285F)
Ref Sequence ENSEMBL: ENSMUSP00000121661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035822] [ENSMUST00000072141] [ENSMUST00000140512]
AlphaFold Q8VEC4
Predicted Effect possibly damaging
Transcript: ENSMUST00000035822
AA Change: Y285F

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047278
Gene: ENSMUSG00000033033
AA Change: Y285F

DomainStartEndE-ValueType
Pfam:Ca_hom_mod 6 256 2.3e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072141
SMART Domains Protein: ENSMUSP00000072008
Gene: ENSMUSG00000025047

DomainStartEndE-ValueType
low complexity region 53 76 N/A INTRINSIC
S1 81 171 1.05e-7 SMART
S1 185 258 2.32e-9 SMART
S1 279 346 1.44e-5 SMART
S1 363 436 8.55e-8 SMART
S1 451 522 3.89e-20 SMART
S1 540 611 1.14e-17 SMART
S1 634 707 2.76e-2 SMART
S1 727 798 2.02e-18 SMART
low complexity region 813 823 N/A INTRINSIC
S1 844 911 6.13e0 SMART
Blast:S1 923 993 8e-39 BLAST
low complexity region 1018 1032 N/A INTRINSIC
S1 1045 1120 1.3e-7 SMART
S1 1158 1233 6.09e-4 SMART
S1 1239 1309 4.14e-6 SMART
S1 1333 1407 1.57e-6 SMART
low complexity region 1433 1473 N/A INTRINSIC
coiled coil region 1557 1588 N/A INTRINSIC
HAT 1591 1622 6.53e2 SMART
HAT 1624 1661 4.12e1 SMART
HAT 1663 1694 3.49e2 SMART
HAT 1696 1728 3.18e-1 SMART
HAT 1730 1764 2.25e2 SMART
HAT 1766 1798 8.52e-2 SMART
HAT 1800 1835 1.33e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000140512
AA Change: Y285F

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121661
Gene: ENSMUSG00000033033
AA Change: Y285F

DomainStartEndE-ValueType
Pfam:Ca_hom_mod 6 258 2.9e-93 PFAM
Meta Mutation Damage Score 0.0952 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,334,076 (GRCm39) F1142S possibly damaging Het
Abca5 G A 11: 110,210,622 (GRCm39) Q186* probably null Het
Casr T C 16: 36,330,270 (GRCm39) T355A probably damaging Het
Ccnq T A 11: 78,642,115 (GRCm39) Q125L possibly damaging Het
Clca3a1 T C 3: 144,733,747 (GRCm39) Y63C probably damaging Het
Cntnap5a T C 1: 115,612,873 (GRCm39) S3P probably benign Het
Col27a1 G A 4: 63,143,476 (GRCm39) G388D probably damaging Het
Cwh43 T C 5: 73,589,256 (GRCm39) M447T probably benign Het
Dnah7b G A 1: 46,281,179 (GRCm39) G2747S possibly damaging Het
Fbxo7 A G 10: 85,864,901 (GRCm39) S51G probably benign Het
Gabbr2 T A 4: 46,684,294 (GRCm39) Y660F probably benign Het
Galnt15 A G 14: 31,751,868 (GRCm39) E140G probably benign Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gsap T A 5: 21,422,445 (GRCm39) L138Q probably damaging Het
Igflr1 A G 7: 30,265,747 (GRCm39) N57S possibly damaging Het
Ighv13-2 A G 12: 114,321,473 (GRCm39) F89L probably damaging Het
Irf2bpl A G 12: 86,928,846 (GRCm39) V609A probably benign Het
Jkampl A G 6: 73,445,850 (GRCm39) V233A probably benign Het
Lingo1 T G 9: 56,527,711 (GRCm39) I293L probably damaging Het
Lrrc14 A G 15: 76,598,173 (GRCm39) D301G probably benign Het
Lsm2 T C 17: 35,201,185 (GRCm39) probably benign Het
Map4 C T 9: 109,866,851 (GRCm39) probably benign Het
Micall1 T A 15: 79,011,104 (GRCm39) probably null Het
Mpp7 T C 18: 7,442,855 (GRCm39) D156G probably null Het
Mybbp1a A G 11: 72,338,939 (GRCm39) D822G probably damaging Het
Naip2 A G 13: 100,325,368 (GRCm39) V180A probably benign Het
Nol10 T A 12: 17,409,103 (GRCm39) Y159* probably null Het
Nphp3 A G 9: 103,919,221 (GRCm39) T1290A probably benign Het
Or12e1 T A 2: 87,022,796 (GRCm39) V255E probably damaging Het
Or5aq1b T C 2: 86,902,341 (GRCm39) I46V probably damaging Het
Or7g20 T C 9: 18,946,787 (GRCm39) Y123H probably damaging Het
Pcsk5 T A 19: 17,440,720 (GRCm39) Y1290F possibly damaging Het
Rab42 T C 4: 132,029,827 (GRCm39) N132D probably benign Het
Rfx3 T G 19: 27,827,359 (GRCm39) T76P probably damaging Het
Rps13-ps2 G T 7: 88,180,036 (GRCm39) noncoding transcript Het
Slc12a3 A G 8: 95,083,655 (GRCm39) D894G possibly damaging Het
Slc25a15 G A 8: 22,879,983 (GRCm39) T54I probably benign Het
Slco1c1 A T 6: 141,505,604 (GRCm39) Q461L probably benign Het
Slfn5 T G 11: 82,850,912 (GRCm39) I403R probably damaging Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
Tbc1d32 T A 10: 56,071,571 (GRCm39) T318S possibly damaging Het
Tiam2 G T 17: 3,479,271 (GRCm39) R668M probably damaging Het
Tle7 A T 8: 110,836,503 (GRCm39) I160F probably damaging Het
Trgj4 G T 13: 19,526,335 (GRCm39) probably benign Het
Trim9 A G 12: 70,393,603 (GRCm39) S114P probably benign Het
Trp53i11 T C 2: 93,030,200 (GRCm39) L169P possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r190-ps A G 13: 22,328,901 (GRCm39) noncoding transcript Het
Other mutations in Calhm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02551:Calhm2 APN 19 47,121,539 (GRCm39) missense probably damaging 1.00
R0373:Calhm2 UTSW 19 47,121,389 (GRCm39) missense possibly damaging 0.84
R0601:Calhm2 UTSW 19 47,129,469 (GRCm39) splice site probably null
R0729:Calhm2 UTSW 19 47,121,356 (GRCm39) missense possibly damaging 0.51
R5626:Calhm2 UTSW 19 47,121,558 (GRCm39) missense probably damaging 0.96
R6106:Calhm2 UTSW 19 47,121,501 (GRCm39) missense probably damaging 1.00
R7145:Calhm2 UTSW 19 47,124,080 (GRCm39) missense probably benign 0.42
R7919:Calhm2 UTSW 19 47,121,447 (GRCm39) missense possibly damaging 0.89
R8407:Calhm2 UTSW 19 47,098,755 (GRCm39) nonsense probably null
R8422:Calhm2 UTSW 19 47,121,579 (GRCm39) missense probably benign
R9093:Calhm2 UTSW 19 47,121,599 (GRCm39) missense probably benign 0.44
R9215:Calhm2 UTSW 19 47,121,305 (GRCm39) missense possibly damaging 0.62
R9405:Calhm2 UTSW 19 47,124,108 (GRCm39) missense probably benign 0.12
R9736:Calhm2 UTSW 19 47,121,597 (GRCm39) missense probably benign 0.25
X0028:Calhm2 UTSW 19 47,121,458 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCCCAAGACACTGTAGATAG -3'
(R):5'- ACGAGGACCAGTTGTTCCAG -3'

Sequencing Primer
(F):5'- TCACCTGATGCTGAAATGAGC -3'
(R):5'- AGTTGTTCCAGCGCACAG -3'
Posted On 2016-10-06