Incidental Mutation 'R4090:Sypl2'
ID 317549
Institutional Source Beutler Lab
Gene Symbol Sypl2
Ensembl Gene ENSMUSG00000027887
Gene Name synaptophysin like 2
Synonyms Mg29
MMRRC Submission 040983-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4090 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 108119582-108133915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108124992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 123 (I123T)
Ref Sequence ENSEMBL: ENSMUSP00000116756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000141387]
AlphaFold O89104
Predicted Effect possibly damaging
Transcript: ENSMUST00000141387
AA Change: I123T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116756
Gene: ENSMUSG00000027887
AA Change: I123T

DomainStartEndE-ValueType
low complexity region 9 65 N/A INTRINSIC
Pfam:MARVEL 107 309 7.2e-41 PFAM
low complexity region 318 326 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156371
Meta Mutation Damage Score 0.2995 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (53/55)
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile, but exhibit reduced body weight, abnormal skeletal muscle membranes and irregular skeletal muscle contractility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T G 10: 106,889,313 (GRCm39) Y169S probably damaging Het
Apc2 A G 10: 80,141,378 (GRCm39) K268E probably damaging Het
Arhgef2 G C 3: 88,551,185 (GRCm39) R765P probably benign Het
Bptf T C 11: 106,972,349 (GRCm39) K840E probably damaging Het
Carf A G 1: 60,175,506 (GRCm39) R245G possibly damaging Het
Cd36 A G 5: 17,990,718 (GRCm39) probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Cldn34c4 A T X: 126,629,011 (GRCm39) V153E probably damaging Het
Col4a4 T A 1: 82,501,643 (GRCm39) Y370F unknown Het
Cplane1 T A 15: 8,241,842 (GRCm39) probably null Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Exoc6 A G 19: 37,560,360 (GRCm39) T126A probably benign Het
Fam83f A T 15: 80,576,393 (GRCm39) N348I possibly damaging Het
Gja8 A G 3: 96,826,468 (GRCm39) V398A probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm12789 A T 4: 101,845,526 (GRCm39) T72S possibly damaging Het
Gm1988 A G 7: 38,820,292 (GRCm39) noncoding transcript Het
Gm21370 A G 13: 120,488,489 (GRCm39) V20A probably benign Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hsd17b13 T A 5: 104,113,720 (GRCm39) S245C probably benign Het
Htr1f T C 16: 64,746,324 (GRCm39) K323E probably benign Het
Igkc T C 6: 70,703,442 (GRCm39) probably benign Het
Ksr1 T C 11: 78,918,303 (GRCm39) E535G probably damaging Het
Mlxipl A T 5: 135,161,381 (GRCm39) E433D probably benign Het
Npc1 T C 18: 12,331,219 (GRCm39) probably null Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Or1e29 A G 11: 73,667,667 (GRCm39) L162P probably damaging Het
Or6y1 A G 1: 174,276,500 (GRCm39) T104A probably benign Het
Or7g17 T C 9: 18,768,398 (GRCm39) I159T probably benign Het
Pcdha3 A G 18: 37,081,504 (GRCm39) R749G probably benign Het
Ppme1 A T 7: 99,997,044 (GRCm39) N122K possibly damaging Het
Rasal1 G A 5: 120,813,674 (GRCm39) V657M possibly damaging Het
Rbm47 A G 5: 66,180,080 (GRCm39) M409T probably benign Het
Rragd C T 4: 33,007,155 (GRCm39) T161M probably damaging Het
Slurp1 T C 15: 74,598,724 (GRCm39) H89R possibly damaging Het
Snap23 A G 2: 120,416,061 (GRCm39) I42V probably benign Het
Taar8a T A 10: 23,953,062 (GRCm39) V222E probably damaging Het
Tmem171 A T 13: 98,829,096 (GRCm39) V18D probably damaging Het
Topors T C 4: 40,260,794 (GRCm39) D830G unknown Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Tubg1 T A 11: 101,015,364 (GRCm39) M270K possibly damaging Het
Vmn1r188 T C 13: 22,272,772 (GRCm39) V242A probably benign Het
Vmn1r19 T A 6: 57,381,720 (GRCm39) I91N probably damaging Het
Vmn2r12 T A 5: 109,239,412 (GRCm39) M384L probably benign Het
Wdr26 T C 1: 181,030,679 (GRCm39) E205G probably damaging Het
Zfp281 T A 1: 136,553,859 (GRCm39) I279N probably damaging Het
Zfp398 T A 6: 47,843,159 (GRCm39) C272S probably damaging Het
Zfp975 A G 7: 42,312,298 (GRCm39) V105A probably benign Het
Other mutations in Sypl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Sypl2 APN 3 108,133,742 (GRCm39) start gained probably benign
R0147:Sypl2 UTSW 3 108,126,411 (GRCm39) missense possibly damaging 0.91
R0148:Sypl2 UTSW 3 108,126,411 (GRCm39) missense possibly damaging 0.91
R0381:Sypl2 UTSW 3 108,133,473 (GRCm39) missense possibly damaging 0.57
R0512:Sypl2 UTSW 3 108,133,486 (GRCm39) missense possibly damaging 0.51
R0751:Sypl2 UTSW 3 108,124,072 (GRCm39) missense probably damaging 0.98
R1279:Sypl2 UTSW 3 108,124,990 (GRCm39) missense probably damaging 1.00
R3411:Sypl2 UTSW 3 108,124,045 (GRCm39) missense possibly damaging 0.94
R4085:Sypl2 UTSW 3 108,124,992 (GRCm39) missense possibly damaging 0.94
R4086:Sypl2 UTSW 3 108,124,992 (GRCm39) missense possibly damaging 0.94
R4088:Sypl2 UTSW 3 108,124,992 (GRCm39) missense possibly damaging 0.94
R4089:Sypl2 UTSW 3 108,124,992 (GRCm39) missense possibly damaging 0.94
R7063:Sypl2 UTSW 3 108,124,971 (GRCm39) missense probably benign 0.31
R7571:Sypl2 UTSW 3 108,121,854 (GRCm39) makesense probably null
R7980:Sypl2 UTSW 3 108,125,008 (GRCm39) missense probably damaging 1.00
R8364:Sypl2 UTSW 3 108,125,050 (GRCm39) missense possibly damaging 0.62
R8558:Sypl2 UTSW 3 108,125,004 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACATAGGCATCAGGACTCAGG -3'
(R):5'- ACATGACTCCTTTCCCAGGG -3'

Sequencing Primer
(F):5'- GGGAAACTATTACTTTTGATCGCCC -3'
(R):5'- ACTCCTTTCCCAGGGTGAGC -3'
Posted On 2015-05-15