Incidental Mutation 'R8316:Sri'
ID 641681
Institutional Source Beutler Lab
Gene Symbol Sri
Ensembl Gene ENSMUSG00000003161
Gene Name sorcin
Synonyms 2210417O06Rik, 2900070H08Rik, Sor
MMRRC Submission 067854-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # R8316 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 8096078-8119314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8113317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 103 (N103D)
Ref Sequence ENSEMBL: ENSMUSP00000118221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088786] [ENSMUST00000148633]
AlphaFold Q6P069
Predicted Effect probably damaging
Transcript: ENSMUST00000088786
AA Change: N88D

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000086165
Gene: ENSMUSG00000003161
AA Change: N88D

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
Pfam:EF-hand_5 30 43 8.7e-4 PFAM
EFh 59 87 6.75e0 SMART
EFh 89 117 1.02e-2 SMART
Blast:EFh 153 183 9e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000148633
AA Change: N103D

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118221
Gene: ENSMUSG00000003161
AA Change: N103D

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
Pfam:EF-hand_5 45 58 9.6e-4 PFAM
EFh 74 102 6.75e0 SMART
EFh 104 132 1.02e-2 SMART
Blast:EFh 168 198 1e-8 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A C 10: 78,903,573 (GRCm39) C248G probably damaging Het
4933427D14Rik A T 11: 72,059,612 (GRCm39) V693E possibly damaging Het
Abcc10 G T 17: 46,638,735 (GRCm39) L42I probably damaging Het
Alb A G 5: 90,616,449 (GRCm39) E318G probably benign Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Aox4 T A 1: 58,293,470 (GRCm39) C941S possibly damaging Het
Aqp9 A G 9: 71,045,495 (GRCm39) V38A probably benign Het
AW209491 A G 13: 14,812,349 (GRCm39) T401A probably damaging Het
Ccdc57 C T 11: 120,776,742 (GRCm39) A553T probably damaging Het
Celf2 C T 2: 6,551,914 (GRCm39) D522N probably benign Het
Cfap210 A G 2: 69,612,287 (GRCm39) probably null Het
Cmpk2 A G 12: 26,524,136 (GRCm39) N311S probably damaging Het
Dcn T C 10: 97,330,939 (GRCm39) I91T probably damaging Het
Defa30 G A 8: 21,624,709 (GRCm39) V11I probably benign Het
Dnmt3a T A 12: 3,946,965 (GRCm39) V397E probably benign Het
Ehhadh G A 16: 21,585,053 (GRCm39) A276V probably benign Het
Fibcd1 T C 2: 31,723,791 (GRCm39) probably benign Het
Gpr156 A G 16: 37,818,336 (GRCm39) D344G probably null Het
H2-T5 A G 17: 36,479,154 (GRCm39) S32P unknown Het
Invs G T 4: 48,426,199 (GRCm39) R995S possibly damaging Het
Itpr3 T C 17: 27,325,199 (GRCm39) M1264T possibly damaging Het
Lzic C T 4: 149,572,527 (GRCm39) A39V probably benign Het
Marchf6 A G 15: 31,482,650 (GRCm39) L516P possibly damaging Het
Mecom C T 3: 30,011,529 (GRCm39) E591K probably benign Het
Mical3 T C 6: 120,911,944 (GRCm39) D1916G probably damaging Het
Mms22l T C 4: 24,578,855 (GRCm39) I738T probably damaging Het
Mroh2b G A 15: 4,980,746 (GRCm39) W1438* probably null Het
Mroh8 G T 2: 157,071,879 (GRCm39) T542K possibly damaging Het
Msl1 A T 11: 98,691,074 (GRCm39) K416I probably damaging Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Or51a10 A T 7: 103,698,829 (GRCm39) V244E probably damaging Het
Or5p5 G T 7: 107,414,030 (GRCm39) V82F possibly damaging Het
Or5p58 A G 7: 107,694,450 (GRCm39) F109S probably benign Het
Or6c70 A G 10: 129,709,891 (GRCm39) V245A probably damaging Het
Pdzk1ip1 T A 4: 114,946,323 (GRCm39) V61D probably benign Het
Plcxd1 A T 5: 110,250,180 (GRCm39) M212L probably benign Het
Pld1 A G 3: 28,078,361 (GRCm39) T7A probably benign Het
Ppm1n T C 7: 19,012,302 (GRCm39) D310G probably damaging Het
Prpf8 A G 11: 75,390,641 (GRCm39) N1264S possibly damaging Het
Pum2 T A 12: 8,763,456 (GRCm39) N204K possibly damaging Het
Recql5 G A 11: 115,784,861 (GRCm39) T822I possibly damaging Het
Rfc1 T C 5: 65,436,077 (GRCm39) T656A probably benign Het
Sacs T C 14: 61,427,068 (GRCm39) Y159H possibly damaging Het
Septin14 A G 5: 129,773,194 (GRCm39) S148P probably damaging Het
Slco1c1 T A 6: 141,492,640 (GRCm39) M341K probably benign Het
Smok2a T C 17: 13,445,160 (GRCm39) S246P probably damaging Het
Spata9 C A 13: 76,125,890 (GRCm39) S124R possibly damaging Het
Sspo G A 6: 48,459,622 (GRCm39) C3327Y probably damaging Het
Trank1 A G 9: 111,178,370 (GRCm39) M353V probably benign Het
Trim80 A T 11: 115,332,006 (GRCm39) E66V probably damaging Het
Txndc16 A G 14: 45,448,641 (GRCm39) L73P probably damaging Het
Ugt2b34 T A 5: 87,039,249 (GRCm39) M471L probably damaging Het
Ush2a G T 1: 188,178,899 (GRCm39) V1357L probably benign Het
Usp15 G T 10: 122,959,848 (GRCm39) P855T Het
Uspl1 C T 5: 149,135,491 (GRCm39) T290I possibly damaging Het
Zbtb2 A C 10: 4,319,084 (GRCm39) M314R probably benign Het
Zcchc2 A G 1: 105,959,844 (GRCm39) Y1151C probably damaging Het
Zmat3 T C 3: 32,395,670 (GRCm39) Y279C probably damaging Het
Other mutations in Sri
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Sri APN 5 8,113,755 (GRCm39) splice site probably null
IGL02442:Sri APN 5 8,112,411 (GRCm39) missense probably damaging 1.00
IGL02661:Sri APN 5 8,113,252 (GRCm39) splice site probably benign
IGL02675:Sri APN 5 8,117,534 (GRCm39) missense probably damaging 1.00
R0847:Sri UTSW 5 8,113,755 (GRCm39) splice site probably null
R0973:Sri UTSW 5 8,109,381 (GRCm39) missense probably damaging 1.00
R0973:Sri UTSW 5 8,109,381 (GRCm39) missense probably damaging 1.00
R0974:Sri UTSW 5 8,109,381 (GRCm39) missense probably damaging 1.00
R1187:Sri UTSW 5 8,109,416 (GRCm39) missense probably damaging 1.00
R2860:Sri UTSW 5 8,117,540 (GRCm39) missense probably benign 0.26
R2861:Sri UTSW 5 8,117,540 (GRCm39) missense probably benign 0.26
R3844:Sri UTSW 5 8,114,576 (GRCm39) missense probably damaging 1.00
R4345:Sri UTSW 5 8,109,427 (GRCm39) splice site probably null
R4575:Sri UTSW 5 8,113,693 (GRCm39) missense probably damaging 1.00
R4704:Sri UTSW 5 8,112,430 (GRCm39) splice site probably null
R5878:Sri UTSW 5 8,109,353 (GRCm39) missense probably damaging 1.00
R6257:Sri UTSW 5 8,109,596 (GRCm39) splice site probably null
R6944:Sri UTSW 5 8,113,365 (GRCm39) missense probably benign 0.09
R7716:Sri UTSW 5 8,106,641 (GRCm39) critical splice donor site probably null
R7917:Sri UTSW 5 8,113,409 (GRCm39) critical splice donor site probably null
R7929:Sri UTSW 5 8,107,652 (GRCm39) intron probably benign
R7960:Sri UTSW 5 8,114,586 (GRCm39) missense probably benign 0.04
R9062:Sri UTSW 5 8,106,625 (GRCm39) missense unknown
R9224:Sri UTSW 5 8,113,323 (GRCm39) missense probably damaging 1.00
X0061:Sri UTSW 5 8,113,368 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AACATGGGGTGTCTTTCTGC -3'
(R):5'- TCCTGAAAGGTAGAAAAGTCACC -3'

Sequencing Primer
(F):5'- CTGCCATTTTAACAGAAAGCATTGAG -3'
(R):5'- TCACCCAGCAAGAAAAGGTTAAAG -3'
Posted On 2020-07-28