Incidental Mutation 'R4382:Calr3'
ID 500587
Institutional Source Beutler Lab
Gene Symbol Calr3
Ensembl Gene ENSMUSG00000019732
Gene Name calreticulin 3
Synonyms 6330586I20Rik, calsperin, 1700031L01Rik, Crt2
MMRRC Submission 041679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R4382 (G1)
Quality Score 224
Status Not validated
Chromosome 8
Chromosomal Location 73178020-73197638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73182008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 120 (D120V)
Ref Sequence ENSEMBL: ENSMUSP00000105601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019876] [ENSMUST00000109974]
AlphaFold Q9D9Q6
Predicted Effect probably damaging
Transcript: ENSMUST00000019876
AA Change: D228V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019876
Gene: ENSMUSG00000019732
AA Change: D228V

DomainStartEndE-ValueType
Pfam:Calreticulin 23 256 5.7e-40 PFAM
Pfam:Calreticulin 255 315 6.6e-7 PFAM
low complexity region 345 359 N/A INTRINSIC
low complexity region 365 376 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109974
AA Change: D120V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105601
Gene: ENSMUSG00000019732
AA Change: D120V

DomainStartEndE-ValueType
Pfam:Calreticulin 23 207 7.9e-32 PFAM
low complexity region 237 251 N/A INTRINSIC
low complexity region 257 268 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120752
Meta Mutation Damage Score 0.7187 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with impaired zona pellucida binding and fertilization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T A 4: 144,281,596 (GRCm39) T399S possibly damaging Het
Acp2 T C 2: 91,038,454 (GRCm39) S309P possibly damaging Het
Adam23 T C 1: 63,605,787 (GRCm39) Y624H probably damaging Het
B4galnt4 T C 7: 140,650,449 (GRCm39) V772A probably damaging Het
Boc A T 16: 44,311,545 (GRCm39) L726H probably damaging Het
Ccdc92b G A 11: 74,520,842 (GRCm39) S48N probably damaging Het
Ceacam12 C T 7: 17,799,959 (GRCm39) probably benign Het
Clca3a1 T A 3: 144,466,483 (GRCm39) M1L probably benign Het
Cnot1 T C 8: 96,496,407 (GRCm39) T300A probably damaging Het
Col12a1 A T 9: 79,538,023 (GRCm39) Y2514* probably null Het
Col6a6 G A 9: 105,660,889 (GRCm39) R407W probably damaging Het
Csnk1g1 T C 9: 65,927,190 (GRCm39) V119A probably damaging Het
Cspg4b T C 13: 113,459,288 (GRCm39) I1273T probably benign Het
Ddx60 G A 8: 62,402,012 (GRCm39) probably null Het
Dnajb12 A T 10: 59,733,321 (GRCm39) K372N probably benign Het
Fhl5 A C 4: 25,200,118 (GRCm39) C239G probably benign Het
Gad2 G A 2: 22,575,422 (GRCm39) V509I probably benign Het
Glrb T A 3: 80,786,946 (GRCm39) R72S probably damaging Het
Gm6811 T C 17: 21,314,865 (GRCm39) noncoding transcript Het
Hecw1 C T 13: 14,490,749 (GRCm39) D748N probably damaging Het
Hk2 A T 6: 82,712,322 (GRCm39) L542Q probably null Het
Iglc1 A T 16: 18,880,508 (GRCm39) C104* probably null Het
Kel T A 6: 41,675,334 (GRCm39) T306S probably benign Het
Lpo T C 11: 87,713,027 (GRCm39) D25G probably benign Het
Mboat7 T A 7: 3,691,545 (GRCm39) Y109F possibly damaging Het
Myh15 T G 16: 48,963,306 (GRCm39) N1082K probably benign Het
Nagk A G 6: 83,774,993 (GRCm39) E90G probably benign Het
Nagpa A T 16: 5,021,819 (GRCm39) F10I possibly damaging Het
Or9a4 T A 6: 40,548,998 (GRCm39) L226H probably damaging Het
Otog T A 7: 45,939,122 (GRCm39) C2051S probably damaging Het
Ptpn6 A G 6: 124,704,361 (GRCm39) V315A possibly damaging Het
Rbp3 G C 14: 33,677,253 (GRCm39) E400D probably benign Het
Rnf41 T C 10: 128,272,392 (GRCm39) S140P probably benign Het
Ros1 C T 10: 51,997,055 (GRCm39) V1206I possibly damaging Het
Scgb2b12 T A 7: 32,024,870 (GRCm39) E112D probably benign Het
Serpinb3b T A 1: 107,083,273 (GRCm39) M210L probably damaging Het
Sipa1l1 A G 12: 82,493,596 (GRCm39) R1672G possibly damaging Het
Smc5 A G 19: 23,246,210 (GRCm39) S70P probably benign Het
Spen C T 4: 141,200,450 (GRCm39) G2703S possibly damaging Het
Stard9 C G 2: 120,464,703 (GRCm39) A56G probably damaging Het
Wtap A G 17: 13,194,307 (GRCm39) S87P probably damaging Het
Zzef1 T G 11: 72,765,938 (GRCm39) S1488R probably benign Het
Other mutations in Calr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Calr3 APN 8 73,185,240 (GRCm39) nonsense probably null
IGL01358:Calr3 APN 8 73,181,057 (GRCm39) nonsense probably null
IGL02440:Calr3 APN 8 73,185,276 (GRCm39) missense probably benign 0.30
IGL02646:Calr3 APN 8 73,197,304 (GRCm39) missense possibly damaging 0.89
IGL02882:Calr3 APN 8 73,188,665 (GRCm39) missense probably damaging 0.99
IGL02945:Calr3 APN 8 73,192,401 (GRCm39) missense probably damaging 1.00
IGL03025:Calr3 APN 8 73,188,735 (GRCm39) splice site probably benign
IGL03175:Calr3 APN 8 73,197,449 (GRCm39) missense probably damaging 1.00
R0140:Calr3 UTSW 8 73,188,732 (GRCm39) splice site probably benign
R1518:Calr3 UTSW 8 73,181,044 (GRCm39) missense probably damaging 0.97
R1675:Calr3 UTSW 8 73,185,302 (GRCm39) missense probably damaging 1.00
R2006:Calr3 UTSW 8 73,188,695 (GRCm39) missense probably damaging 1.00
R2111:Calr3 UTSW 8 73,181,112 (GRCm39) missense probably damaging 0.99
R2202:Calr3 UTSW 8 73,188,683 (GRCm39) missense probably damaging 1.00
R2296:Calr3 UTSW 8 73,178,469 (GRCm39) unclassified probably benign
R2432:Calr3 UTSW 8 73,192,270 (GRCm39) unclassified probably benign
R3946:Calr3 UTSW 8 73,197,464 (GRCm39) missense probably damaging 1.00
R4383:Calr3 UTSW 8 73,182,008 (GRCm39) missense probably damaging 1.00
R4384:Calr3 UTSW 8 73,182,008 (GRCm39) missense probably damaging 1.00
R4385:Calr3 UTSW 8 73,182,008 (GRCm39) missense probably damaging 1.00
R4943:Calr3 UTSW 8 73,185,221 (GRCm39) missense probably benign 0.18
R5132:Calr3 UTSW 8 73,185,212 (GRCm39) splice site probably null
R7337:Calr3 UTSW 8 73,185,339 (GRCm39) missense probably damaging 1.00
R7879:Calr3 UTSW 8 73,178,487 (GRCm39) missense unknown
R8132:Calr3 UTSW 8 73,181,023 (GRCm39) missense probably damaging 1.00
R8703:Calr3 UTSW 8 73,192,291 (GRCm39) missense probably damaging 1.00
R9064:Calr3 UTSW 8 73,188,674 (GRCm39) missense possibly damaging 0.72
R9314:Calr3 UTSW 8 73,178,535 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- TTTTCTAAGAGCACAAATGGGGC -3'
(R):5'- ATGTGTGCTCCCTAGGTTTC -3'

Sequencing Primer
(F):5'- GCAGGAGCAAGGGCCAC -3'
(R):5'- GCAATGAGGACCCAAGTTTGATTTC -3'
Posted On 2017-12-01